Incidental Mutation 'R2508:Knl1'
| ID |
251450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Knl1
|
| Ensembl Gene |
ENSMUSG00000027326 |
| Gene Name |
kinetochore scaffold 1 |
| Synonyms |
Casc5, 2310043D08Rik, 5730505K17Rik |
| MMRRC Submission |
040414-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
118877600-118935982 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 118888849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 17
(R17*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028799]
[ENSMUST00000028802]
[ENSMUST00000099542]
[ENSMUST00000152380]
[ENSMUST00000153300]
|
| AlphaFold |
Q66JQ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028799
AA Change: R17*
|
| SMART Domains |
Protein: ENSMUSP00000028799
Gene: ENSMUSG00000027326
AA Change: R17*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
58 |
N/A |
INTRINSIC |
|
PDB:4A1G|H
|
126 |
175 |
1e-13 |
PDB |
|
low complexity region
|
426 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000028802
AA Change: R17*
|
| SMART Domains |
Protein: ENSMUSP00000028802
Gene: ENSMUSG00000027326
AA Change: R17*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
58 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
98 |
304 |
1.57e-6 |
PROSPERO |
|
low complexity region
|
426 |
433 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
610 |
824 |
1.57e-6 |
PROSPERO |
|
low complexity region
|
883 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1159 |
N/A |
INTRINSIC |
|
low complexity region
|
1621 |
1644 |
N/A |
INTRINSIC |
|
coiled coil region
|
1724 |
1755 |
N/A |
INTRINSIC |
|
low complexity region
|
1836 |
1850 |
N/A |
INTRINSIC |
|
low complexity region
|
1864 |
1878 |
N/A |
INTRINSIC |
|
PDB:4NF9|B
|
1899 |
2119 |
1e-115 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099542
AA Change: R17*
|
| SMART Domains |
Protein: ENSMUSP00000097140
Gene: ENSMUSG00000027326
AA Change: R17*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
58 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
98 |
304 |
1.57e-6 |
PROSPERO |
|
low complexity region
|
426 |
433 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
610 |
824 |
1.57e-6 |
PROSPERO |
|
low complexity region
|
883 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1159 |
N/A |
INTRINSIC |
|
low complexity region
|
1621 |
1644 |
N/A |
INTRINSIC |
|
coiled coil region
|
1724 |
1755 |
N/A |
INTRINSIC |
|
low complexity region
|
1836 |
1850 |
N/A |
INTRINSIC |
|
low complexity region
|
1864 |
1878 |
N/A |
INTRINSIC |
|
PDB:4NF9|B
|
1899 |
2119 |
1e-115 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152380
AA Change: R17*
|
| SMART Domains |
Protein: ENSMUSP00000118646
Gene: ENSMUSG00000027326
AA Change: R17*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
58 |
N/A |
INTRINSIC |
|
PDB:4A1G|H
|
126 |
175 |
3e-14 |
PDB |
|
low complexity region
|
426 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153300
AA Change: R17*
|
| SMART Domains |
Protein: ENSMUSP00000120905
Gene: ENSMUSG00000027326
AA Change: R17*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
58 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. Mice homozygous for an ENU-induced allele exhibit possible embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
C |
T |
8: 120,872,132 (GRCm39) |
T20I |
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,679,516 (GRCm39) |
T832I |
possibly damaging |
Het |
| Agbl1 |
G |
A |
7: 76,239,298 (GRCm39) |
|
probably null |
Het |
| Ankrd61 |
T |
C |
5: 143,833,894 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
G |
7: 79,488,039 (GRCm39) |
Y506S |
possibly damaging |
Het |
| Aox1 |
T |
A |
1: 58,382,832 (GRCm39) |
H1037Q |
probably benign |
Het |
| Auh |
G |
A |
13: 53,052,755 (GRCm39) |
R47* |
probably null |
Het |
| B4galt5 |
T |
A |
2: 167,148,558 (GRCm39) |
M187L |
probably benign |
Het |
| Bub1 |
A |
T |
2: 127,643,343 (GRCm39) |
D1000E |
probably benign |
Het |
| Cacna1f |
T |
G |
X: 7,492,687 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,279,039 (GRCm39) |
L667P |
probably damaging |
Het |
| Cenpe |
A |
T |
3: 134,946,834 (GRCm39) |
R1116S |
possibly damaging |
Het |
| Ces1b |
T |
A |
8: 93,799,969 (GRCm39) |
M136L |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,833,236 (GRCm39) |
E1130G |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Clu |
T |
C |
14: 66,212,452 (GRCm39) |
V135A |
probably damaging |
Het |
| Cmip |
T |
A |
8: 118,163,432 (GRCm39) |
S388T |
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,400,029 (GRCm39) |
V51E |
possibly damaging |
Het |
| Crym |
T |
C |
7: 119,801,050 (GRCm39) |
N33S |
probably benign |
Het |
| Ctcf |
T |
A |
8: 106,398,016 (GRCm39) |
V434E |
probably damaging |
Het |
| Daam1 |
G |
A |
12: 72,021,997 (GRCm39) |
D732N |
probably damaging |
Het |
| Dcaf13 |
A |
G |
15: 39,008,547 (GRCm39) |
Y383C |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,262,485 (GRCm39) |
T957A |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,163,619 (GRCm39) |
D817G |
probably benign |
Het |
| Eif1ad16 |
T |
C |
12: 87,985,258 (GRCm39) |
Y95C |
probably damaging |
Het |
| Fads3 |
A |
G |
19: 10,033,818 (GRCm39) |
Y401C |
probably damaging |
Het |
| Fam72a |
T |
C |
1: 131,456,592 (GRCm39) |
|
probably null |
Het |
| Fbxw21 |
C |
A |
9: 108,974,553 (GRCm39) |
K322N |
probably benign |
Het |
| Fdxr |
G |
A |
11: 115,162,806 (GRCm39) |
T100I |
probably damaging |
Het |
| Galnt11 |
C |
G |
5: 25,452,610 (GRCm39) |
P41A |
probably damaging |
Het |
| Glb1l |
T |
C |
1: 75,178,473 (GRCm39) |
T322A |
probably damaging |
Het |
| Gm6871 |
T |
A |
7: 41,197,414 (GRCm39) |
T149S |
probably benign |
Het |
| Gpr26 |
C |
T |
7: 131,568,823 (GRCm39) |
T56I |
probably damaging |
Het |
| Grik4 |
C |
A |
9: 42,533,438 (GRCm39) |
G361C |
probably damaging |
Het |
| Gsr |
T |
G |
8: 34,170,316 (GRCm39) |
D200E |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,165,247 (GRCm39) |
D7E |
probably benign |
Het |
| Inpp5e |
T |
A |
2: 26,289,355 (GRCm39) |
I522F |
probably damaging |
Het |
| Insm2 |
C |
A |
12: 55,647,096 (GRCm39) |
T280K |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,617,435 (GRCm39) |
V585A |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,394,515 (GRCm39) |
V197D |
probably benign |
Het |
| Lag3 |
G |
T |
6: 124,888,272 (GRCm39) |
L15I |
possibly damaging |
Het |
| Lepr |
T |
A |
4: 101,648,093 (GRCm39) |
S861T |
probably damaging |
Het |
| Mcur1 |
A |
T |
13: 43,697,941 (GRCm39) |
Y320N |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,736,717 (GRCm39) |
D872V |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 120,134,446 (GRCm39) |
|
probably null |
Het |
| Mpl |
C |
A |
4: 118,312,954 (GRCm39) |
C193F |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,368,681 (GRCm39) |
A4142S |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,104,424 (GRCm39) |
D993E |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,947,404 (GRCm39) |
D11E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,085,533 (GRCm39) |
I1521V |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,355,485 (GRCm39) |
V1744A |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or4p20 |
T |
C |
2: 88,253,800 (GRCm39) |
T190A |
possibly damaging |
Het |
| Or6c66 |
T |
A |
10: 129,461,784 (GRCm39) |
I49L |
probably benign |
Het |
| Or8k23 |
A |
G |
2: 86,186,708 (GRCm39) |
L6P |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,710,361 (GRCm39) |
L576P |
probably damaging |
Het |
| P2ry1 |
C |
T |
3: 60,910,900 (GRCm39) |
T13M |
probably damaging |
Het |
| Pak6 |
A |
T |
2: 118,525,050 (GRCm39) |
R559* |
probably null |
Het |
| Parvb |
A |
T |
15: 84,182,171 (GRCm39) |
M234L |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,145,907 (GRCm39) |
V666A |
possibly damaging |
Het |
| Pde3b |
T |
A |
7: 114,126,092 (GRCm39) |
Y775* |
probably null |
Het |
| Pgam5 |
A |
G |
5: 110,413,869 (GRCm39) |
L98P |
probably damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Pkib |
T |
G |
10: 57,604,205 (GRCm39) |
D4E |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,102,428 (GRCm39) |
I202F |
probably benign |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Prdm1 |
T |
A |
10: 44,322,803 (GRCm39) |
T249S |
probably benign |
Het |
| Prpf39 |
T |
A |
12: 65,104,589 (GRCm39) |
F551L |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,099,986 (GRCm39) |
E1830G |
probably benign |
Het |
| Ralgapa1 |
G |
A |
12: 55,764,986 (GRCm39) |
P889S |
probably damaging |
Het |
| Rassf2 |
A |
T |
2: 131,840,163 (GRCm39) |
|
probably null |
Het |
| Rnf185 |
A |
G |
11: 3,368,067 (GRCm39) |
Y204H |
probably benign |
Het |
| Rpap1 |
A |
G |
2: 119,610,535 (GRCm39) |
|
probably null |
Het |
| Rufy3 |
T |
C |
5: 88,797,757 (GRCm39) |
S645P |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,594,595 (GRCm39) |
Y1266F |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,971,725 (GRCm39) |
H287Q |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,888,073 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
A |
T |
11: 70,536,658 (GRCm39) |
V104E |
possibly damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,117,190 (GRCm39) |
T175I |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,520,902 (GRCm39) |
F702Y |
probably damaging |
Het |
| Smco2 |
T |
A |
6: 146,761,465 (GRCm39) |
L184H |
probably damaging |
Het |
| Ssc4d |
A |
T |
5: 135,994,461 (GRCm39) |
C90S |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,441,298 (GRCm39) |
S1835P |
probably damaging |
Het |
| Stk35 |
A |
G |
2: 129,643,435 (GRCm39) |
T140A |
probably damaging |
Het |
| Syngr1 |
C |
T |
15: 79,995,941 (GRCm39) |
T160M |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,320,726 (GRCm39) |
L109S |
probably damaging |
Het |
| Tgfb1i1 |
A |
G |
7: 127,848,085 (GRCm39) |
|
probably null |
Het |
| Thoc1 |
T |
A |
18: 9,977,947 (GRCm39) |
V296E |
probably damaging |
Het |
| Timp2 |
C |
T |
11: 118,201,412 (GRCm39) |
C75Y |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,639 (GRCm39) |
Y646C |
probably damaging |
Het |
| Tprn |
G |
A |
2: 25,158,940 (GRCm39) |
E655K |
possibly damaging |
Het |
| Trbv14 |
A |
C |
6: 41,112,424 (GRCm39) |
I74L |
probably benign |
Het |
| Trbv5 |
T |
A |
6: 41,039,555 (GRCm39) |
Y53* |
probably null |
Het |
| Trpm5 |
T |
C |
7: 142,642,656 (GRCm39) |
Q97R |
possibly damaging |
Het |
| Tut1 |
A |
G |
19: 8,932,931 (GRCm39) |
D88G |
probably damaging |
Het |
| Ucp2 |
A |
T |
7: 100,147,620 (GRCm39) |
I200F |
probably benign |
Het |
| Unc45a |
G |
A |
7: 79,988,623 (GRCm39) |
S131L |
probably benign |
Het |
| Uty |
A |
T |
Y: 1,158,182 (GRCm39) |
H573Q |
probably damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,855 (GRCm39) |
Y121F |
possibly damaging |
Het |
| Vmn1r53 |
T |
C |
6: 90,200,554 (GRCm39) |
I257V |
probably benign |
Het |
| Vmn2r90 |
C |
T |
17: 17,954,229 (GRCm39) |
L798F |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,477,736 (GRCm39) |
M225K |
probably benign |
Het |
| Wdr24 |
A |
T |
17: 26,043,273 (GRCm39) |
I32F |
possibly damaging |
Het |
| Zc3h11a |
T |
A |
1: 133,552,521 (GRCm39) |
T529S |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,264 (GRCm39) |
H791R |
unknown |
Het |
| Zfp24 |
A |
G |
18: 24,150,927 (GRCm39) |
L73P |
probably damaging |
Het |
| Zfp616 |
T |
C |
11: 73,974,121 (GRCm39) |
I130T |
probably benign |
Het |
| Zim1 |
ACAGCAG |
ACAGCAGCAG |
7: 6,680,429 (GRCm39) |
|
probably benign |
Het |
| Zim1 |
CAG |
CAGAAG |
7: 6,680,430 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Knl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Knl1
|
APN |
2 |
118,894,564 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00582:Knl1
|
APN |
2 |
118,932,980 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL00666:Knl1
|
APN |
2 |
118,900,945 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01062:Knl1
|
APN |
2 |
118,907,461 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01395:Knl1
|
APN |
2 |
118,902,047 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01604:Knl1
|
APN |
2 |
118,900,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01996:Knl1
|
APN |
2 |
118,934,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02086:Knl1
|
APN |
2 |
118,931,255 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02105:Knl1
|
APN |
2 |
118,902,289 (GRCm39) |
missense |
probably benign |
|
|
IGL02106:Knl1
|
APN |
2 |
118,902,489 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02201:Knl1
|
APN |
2 |
118,899,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02252:Knl1
|
APN |
2 |
118,903,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02414:Knl1
|
APN |
2 |
118,900,804 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02655:Knl1
|
APN |
2 |
118,901,473 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02682:Knl1
|
APN |
2 |
118,908,450 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02710:Knl1
|
APN |
2 |
118,901,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02877:Knl1
|
APN |
2 |
118,919,312 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03100:Knl1
|
APN |
2 |
118,931,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03210:Knl1
|
APN |
2 |
118,901,098 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03138:Knl1
|
UTSW |
2 |
118,902,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0023:Knl1
|
UTSW |
2 |
118,933,030 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0064:Knl1
|
UTSW |
2 |
118,906,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0064:Knl1
|
UTSW |
2 |
118,906,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0078:Knl1
|
UTSW |
2 |
118,900,373 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0178:Knl1
|
UTSW |
2 |
118,888,886 (GRCm39) |
splice site |
probably benign |
|
|
R0295:Knl1
|
UTSW |
2 |
118,919,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Knl1
|
UTSW |
2 |
118,934,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0453:Knl1
|
UTSW |
2 |
118,898,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Knl1
|
UTSW |
2 |
118,927,916 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0827:Knl1
|
UTSW |
2 |
118,919,382 (GRCm39) |
splice site |
probably benign |
|
|
R0920:Knl1
|
UTSW |
2 |
118,900,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1120:Knl1
|
UTSW |
2 |
118,892,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1155:Knl1
|
UTSW |
2 |
118,901,635 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1204:Knl1
|
UTSW |
2 |
118,901,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1241:Knl1
|
UTSW |
2 |
118,903,054 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1387:Knl1
|
UTSW |
2 |
118,901,211 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1448:Knl1
|
UTSW |
2 |
118,898,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Knl1
|
UTSW |
2 |
118,901,827 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1469:Knl1
|
UTSW |
2 |
118,901,827 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1719:Knl1
|
UTSW |
2 |
118,902,219 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1721:Knl1
|
UTSW |
2 |
118,906,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Knl1
|
UTSW |
2 |
118,902,300 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2170:Knl1
|
UTSW |
2 |
118,918,075 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2227:Knl1
|
UTSW |
2 |
118,902,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2246:Knl1
|
UTSW |
2 |
118,902,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Knl1
|
UTSW |
2 |
118,902,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3115:Knl1
|
UTSW |
2 |
118,900,872 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3122:Knl1
|
UTSW |
2 |
118,899,425 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3431:Knl1
|
UTSW |
2 |
118,892,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Knl1
|
UTSW |
2 |
118,933,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4461:Knl1
|
UTSW |
2 |
118,890,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4600:Knl1
|
UTSW |
2 |
118,901,025 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4713:Knl1
|
UTSW |
2 |
118,899,618 (GRCm39) |
nonsense |
probably null |
|
|
R4758:Knl1
|
UTSW |
2 |
118,902,213 (GRCm39) |
frame shift |
probably null |
|
|
R4762:Knl1
|
UTSW |
2 |
118,902,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4869:Knl1
|
UTSW |
2 |
118,902,832 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4870:Knl1
|
UTSW |
2 |
118,911,994 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4935:Knl1
|
UTSW |
2 |
118,899,438 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5167:Knl1
|
UTSW |
2 |
118,900,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Knl1
|
UTSW |
2 |
118,899,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5293:Knl1
|
UTSW |
2 |
118,900,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Knl1
|
UTSW |
2 |
118,898,829 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5331:Knl1
|
UTSW |
2 |
118,900,736 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5353:Knl1
|
UTSW |
2 |
118,901,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5493:Knl1
|
UTSW |
2 |
118,899,211 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5542:Knl1
|
UTSW |
2 |
118,898,829 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5632:Knl1
|
UTSW |
2 |
118,900,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Knl1
|
UTSW |
2 |
118,912,031 (GRCm39) |
nonsense |
probably null |
|
|
R5854:Knl1
|
UTSW |
2 |
118,900,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5979:Knl1
|
UTSW |
2 |
118,899,841 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6086:Knl1
|
UTSW |
2 |
118,924,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Knl1
|
UTSW |
2 |
118,900,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Knl1
|
UTSW |
2 |
118,902,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Knl1
|
UTSW |
2 |
118,899,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Knl1
|
UTSW |
2 |
118,899,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6608:Knl1
|
UTSW |
2 |
118,917,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6881:Knl1
|
UTSW |
2 |
118,925,665 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7161:Knl1
|
UTSW |
2 |
118,901,266 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7206:Knl1
|
UTSW |
2 |
118,899,780 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7270:Knl1
|
UTSW |
2 |
118,933,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7276:Knl1
|
UTSW |
2 |
118,902,167 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7358:Knl1
|
UTSW |
2 |
118,901,040 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7402:Knl1
|
UTSW |
2 |
118,925,707 (GRCm39) |
nonsense |
probably null |
|
|
R7408:Knl1
|
UTSW |
2 |
118,901,073 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7475:Knl1
|
UTSW |
2 |
118,918,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Knl1
|
UTSW |
2 |
118,901,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7524:Knl1
|
UTSW |
2 |
118,896,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Knl1
|
UTSW |
2 |
118,924,487 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7607:Knl1
|
UTSW |
2 |
118,925,614 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7745:Knl1
|
UTSW |
2 |
118,902,037 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7847:Knl1
|
UTSW |
2 |
118,901,457 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8423:Knl1
|
UTSW |
2 |
118,900,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Knl1
|
UTSW |
2 |
118,899,524 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8727:Knl1
|
UTSW |
2 |
118,899,524 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8995:Knl1
|
UTSW |
2 |
118,902,990 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9023:Knl1
|
UTSW |
2 |
118,900,761 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9100:Knl1
|
UTSW |
2 |
118,899,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9102:Knl1
|
UTSW |
2 |
118,917,973 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9303:Knl1
|
UTSW |
2 |
118,898,829 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9400:Knl1
|
UTSW |
2 |
118,931,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9426:Knl1
|
UTSW |
2 |
118,899,979 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9583:Knl1
|
UTSW |
2 |
118,887,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Knl1
|
UTSW |
2 |
118,907,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Knl1
|
UTSW |
2 |
118,899,994 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9671:Knl1
|
UTSW |
2 |
118,901,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Knl1
|
UTSW |
2 |
118,900,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Knl1
|
UTSW |
2 |
118,899,910 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTATACTCTCAACTTCTTCTAGGC -3'
(R):5'- TCTTTACACAGAAAGCAGTAAGAAG -3'
Sequencing Primer
(F):5'- AGCTGATTACAGGCTGTACC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation