Incidental Mutation 'R0606:Ift172'
| ID |
54135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift172
|
| Ensembl Gene |
ENSMUSG00000038564 |
| Gene Name |
intraflagellar transport 172 |
| Synonyms |
4930553F24Rik, wim, avc1 |
| MMRRC Submission |
038795-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0606 (G1)
|
| Quality Score |
189 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31410623-31448458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31411657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1607
(I1607T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000041565]
[ENSMUST00000054829]
[ENSMUST00000201937]
[ENSMUST00000201625]
[ENSMUST00000202576]
|
| AlphaFold |
Q6VH22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031034
|
| SMART Domains |
Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
60 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
80 |
324 |
5.8e-26 |
PFAM |
|
Pfam:Pkinase
|
80 |
327 |
1e-26 |
PFAM |
|
low complexity region
|
412 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041565
AA Change: I1607T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: I1607T
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
44 |
6e-3 |
SMART |
|
WD40
|
55 |
94 |
2.22e0 |
SMART |
|
WD40
|
102 |
139 |
1.23e2 |
SMART |
|
WD40
|
141 |
180 |
4.6e0 |
SMART |
|
WD40
|
186 |
223 |
3.3e1 |
SMART |
|
WD40
|
225 |
267 |
4.42e1 |
SMART |
|
WD40
|
279 |
314 |
1.03e1 |
SMART |
|
Blast:WD40
|
516 |
550 |
5e-13 |
BLAST |
|
low complexity region
|
573 |
588 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
625 |
1026 |
1.7e-10 |
PROSPERO |
|
Blast:TPR
|
1029 |
1062 |
2e-13 |
BLAST |
|
low complexity region
|
1077 |
1091 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1101 |
1498 |
1.7e-10 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054829
|
| SMART Domains |
Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
211 |
8.6e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201697
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201937
|
| SMART Domains |
Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201625
|
| SMART Domains |
Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202576
|
| SMART Domains |
Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
60 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
79 |
335 |
1e-24 |
PFAM |
|
Pfam:Pkinase_Tyr
|
81 |
332 |
6.5e-25 |
PFAM |
|
low complexity region
|
420 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
484 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6116 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.2%
|
| Validation Efficiency |
98% (99/101) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. Mice homozygous for a conditional allele activated in the early limb bud exhibit polydactyly and short limbs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
T |
C |
17: 33,652,572 (GRCm39) |
Y211H |
probably damaging |
Het |
| Actn1 |
A |
T |
12: 80,221,421 (GRCm39) |
|
probably benign |
Het |
| Adtrp |
A |
G |
13: 41,920,881 (GRCm39) |
F197L |
probably damaging |
Het |
| Ankrd11 |
G |
A |
8: 123,619,571 (GRCm39) |
T1406I |
probably benign |
Het |
| Arhgap24 |
A |
T |
5: 103,045,086 (GRCm39) |
R620W |
probably damaging |
Het |
| Atg13 |
A |
G |
2: 91,512,418 (GRCm39) |
Y284H |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,748,776 (GRCm39) |
E99G |
possibly damaging |
Het |
| Cage1 |
A |
T |
13: 38,200,470 (GRCm39) |
|
probably benign |
Het |
| Cblif |
A |
T |
19: 11,729,658 (GRCm39) |
I206F |
possibly damaging |
Het |
| Ccr3 |
T |
A |
9: 123,828,839 (GRCm39) |
M58K |
probably benign |
Het |
| Cdk18 |
G |
T |
1: 132,045,355 (GRCm39) |
|
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,617,551 (GRCm39) |
V23A |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,650,307 (GRCm39) |
|
probably benign |
Het |
| Col4a6 |
A |
G |
X: 139,975,219 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,321,058 (GRCm39) |
I251V |
probably benign |
Het |
| Csnk1g3 |
G |
A |
18: 54,050,100 (GRCm39) |
V115M |
probably damaging |
Het |
| Cst7 |
A |
T |
2: 150,412,439 (GRCm39) |
M1L |
probably benign |
Het |
| Cyp4f17 |
A |
T |
17: 32,746,817 (GRCm39) |
D373V |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,813,311 (GRCm39) |
R212W |
probably damaging |
Het |
| Dhrs7b |
T |
G |
11: 60,721,572 (GRCm39) |
|
probably benign |
Het |
| Dhx58 |
T |
A |
11: 100,593,077 (GRCm39) |
H210L |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,732,159 (GRCm39) |
Y4249C |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,087,974 (GRCm39) |
L990H |
probably damaging |
Het |
| Faap24 |
T |
C |
7: 35,094,388 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
A |
5: 73,282,077 (GRCm39) |
H174L |
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,132,696 (GRCm39) |
W15R |
probably benign |
Het |
| Gm15446 |
T |
C |
5: 110,091,347 (GRCm39) |
V533A |
probably benign |
Het |
| Gm6760 |
T |
A |
X: 63,195,259 (GRCm39) |
K63* |
probably null |
Het |
| Gne |
C |
T |
4: 44,042,244 (GRCm39) |
E444K |
possibly damaging |
Het |
| Gpr173 |
T |
A |
X: 151,130,036 (GRCm39) |
M146L |
possibly damaging |
Het |
| Hira |
C |
T |
16: 18,753,797 (GRCm39) |
S547L |
probably benign |
Het |
| Hnf1b |
A |
G |
11: 83,754,810 (GRCm39) |
H161R |
probably benign |
Het |
| Hnrnpm |
T |
A |
17: 33,877,364 (GRCm39) |
N53I |
probably damaging |
Het |
| Hs3st5 |
A |
T |
10: 36,708,584 (GRCm39) |
I40F |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,276,430 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,887,639 (GRCm39) |
Q2475R |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,640,806 (GRCm39) |
S800P |
possibly damaging |
Het |
| Iqub |
G |
A |
6: 24,501,260 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
A |
T |
8: 129,448,853 (GRCm39) |
|
probably benign |
Het |
| Kctd21 |
G |
A |
7: 96,996,808 (GRCm39) |
E94K |
probably benign |
Het |
| Kir3dl2 |
A |
G |
X: 135,354,260 (GRCm39) |
V233A |
possibly damaging |
Het |
| Klra2 |
A |
T |
6: 131,197,187 (GRCm39) |
C271S |
probably damaging |
Het |
| Lacc1 |
A |
T |
14: 77,267,061 (GRCm39) |
C401S |
probably damaging |
Het |
| Lmna |
T |
C |
3: 88,389,885 (GRCm39) |
E580G |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,345,296 (GRCm39) |
Y101C |
probably damaging |
Het |
| Mrps16 |
G |
A |
14: 20,441,457 (GRCm39) |
R116* |
probably null |
Het |
| Ndrg2 |
G |
T |
14: 52,143,674 (GRCm39) |
R333S |
probably damaging |
Het |
| Nf2 |
A |
G |
11: 4,732,194 (GRCm39) |
I507T |
possibly damaging |
Het |
| Nktr |
A |
G |
9: 121,578,356 (GRCm39) |
|
probably benign |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,455 (GRCm39) |
|
probably benign |
Het |
| Npat |
T |
C |
9: 53,467,781 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
T |
C |
17: 90,872,801 (GRCm39) |
N1047S |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 91,003,911 (GRCm39) |
I1402N |
possibly damaging |
Het |
| Or5d40 |
G |
T |
2: 88,015,624 (GRCm39) |
M134I |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdcl2 |
C |
T |
5: 76,460,328 (GRCm39) |
S182N |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,716,455 (GRCm39) |
F669L |
probably benign |
Het |
| Plekha8 |
A |
G |
6: 54,606,805 (GRCm39) |
K367E |
probably damaging |
Het |
| Pola1 |
A |
G |
X: 92,531,693 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
C |
T |
11: 85,236,703 (GRCm39) |
T494I |
probably benign |
Het |
| Pramel16 |
T |
A |
4: 143,676,453 (GRCm39) |
Y217F |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,498,177 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,154,131 (GRCm38) |
S617R |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,280,313 (GRCm39) |
G45D |
probably damaging |
Het |
| Rev1 |
T |
A |
1: 38,098,204 (GRCm39) |
R780W |
probably null |
Het |
| Rnf139 |
T |
A |
15: 58,771,676 (GRCm39) |
F567Y |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,405,174 (GRCm39) |
V71A |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 58,988,372 (GRCm39) |
S438P |
probably damaging |
Het |
| Slc30a3 |
T |
A |
5: 31,246,067 (GRCm39) |
H221L |
probably benign |
Het |
| Smo |
A |
C |
6: 29,753,603 (GRCm39) |
I160L |
possibly damaging |
Het |
| Snapc5 |
A |
T |
9: 64,086,582 (GRCm39) |
|
probably benign |
Het |
| Snf8 |
G |
T |
11: 95,925,799 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,850,245 (GRCm39) |
S628G |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,258,145 (GRCm39) |
D199E |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,154 (GRCm39) |
Y128H |
probably damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,024,883 (GRCm39) |
T572A |
possibly damaging |
Het |
| Thada |
C |
A |
17: 84,723,731 (GRCm39) |
V1108L |
possibly damaging |
Het |
| Tln1 |
T |
C |
4: 43,547,756 (GRCm39) |
Q735R |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,848,169 (GRCm39) |
E42K |
probably benign |
Het |
| Trnt1 |
T |
A |
6: 106,754,869 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
A |
T |
2: 120,604,353 (GRCm39) |
M215K |
probably damaging |
Het |
| Ttc8 |
C |
T |
12: 98,909,718 (GRCm39) |
|
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,795,926 (GRCm39) |
Y105C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,438,265 (GRCm39) |
|
probably benign |
Het |
| Usp36 |
A |
G |
11: 118,153,854 (GRCm39) |
|
probably benign |
Het |
| Vcf2 |
C |
T |
X: 149,181,360 (GRCm39) |
A144T |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,899,106 (GRCm39) |
S483P |
possibly damaging |
Het |
| Wdr95 |
A |
G |
5: 149,511,595 (GRCm39) |
T432A |
probably damaging |
Het |
| Wnk1 |
G |
T |
6: 119,903,644 (GRCm39) |
P2523H |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,875,665 (GRCm39) |
|
probably benign |
Het |
| Zar1 |
G |
T |
5: 72,737,886 (GRCm39) |
P71Q |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,351,348 (GRCm39) |
Y154H |
probably benign |
Het |
| Zer1 |
G |
T |
2: 29,994,809 (GRCm39) |
|
probably benign |
Het |
| Zfp454 |
A |
G |
11: 50,765,012 (GRCm39) |
F140S |
probably benign |
Het |
|
| Other mutations in Ift172 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Ift172
|
APN |
5 |
31,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Ift172
|
APN |
5 |
31,423,592 (GRCm39) |
missense |
probably benign |
|
|
IGL01405:Ift172
|
APN |
5 |
31,419,196 (GRCm39) |
nonsense |
probably null |
|
|
IGL01562:Ift172
|
APN |
5 |
31,424,591 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01758:Ift172
|
APN |
5 |
31,438,058 (GRCm39) |
missense |
probably benign |
|
|
IGL01792:Ift172
|
APN |
5 |
31,434,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01830:Ift172
|
APN |
5 |
31,442,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01839:Ift172
|
APN |
5 |
31,423,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02007:Ift172
|
APN |
5 |
31,443,948 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02172:Ift172
|
APN |
5 |
31,438,681 (GRCm39) |
splice site |
probably benign |
|
|
IGL02190:Ift172
|
APN |
5 |
31,411,802 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02334:Ift172
|
APN |
5 |
31,440,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02486:Ift172
|
APN |
5 |
31,414,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02517:Ift172
|
APN |
5 |
31,410,992 (GRCm39) |
splice site |
probably null |
|
|
IGL02571:Ift172
|
APN |
5 |
31,415,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Ift172
|
APN |
5 |
31,421,840 (GRCm39) |
missense |
probably benign |
|
|
IGL03183:Ift172
|
APN |
5 |
31,429,348 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03277:Ift172
|
APN |
5 |
31,424,642 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03349:Ift172
|
APN |
5 |
31,441,474 (GRCm39) |
missense |
probably benign |
0.05 |
|
ostinato
|
UTSW |
5 |
31,434,284 (GRCm39) |
missense |
probably benign |
0.10 |
|
pushback
|
UTSW |
5 |
31,444,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0042:Ift172
|
UTSW |
5 |
31,418,799 (GRCm39) |
missense |
probably benign |
0.35 |
|
PIT4802001:Ift172
|
UTSW |
5 |
31,442,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0153:Ift172
|
UTSW |
5 |
31,417,968 (GRCm39) |
missense |
probably benign |
|
|
R0328:Ift172
|
UTSW |
5 |
31,421,195 (GRCm39) |
nonsense |
probably null |
|
|
R0357:Ift172
|
UTSW |
5 |
31,415,244 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0369:Ift172
|
UTSW |
5 |
31,410,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Ift172
|
UTSW |
5 |
31,444,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Ift172
|
UTSW |
5 |
31,442,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0546:Ift172
|
UTSW |
5 |
31,414,945 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0553:Ift172
|
UTSW |
5 |
31,433,186 (GRCm39) |
splice site |
probably benign |
|
|
R0834:Ift172
|
UTSW |
5 |
31,414,715 (GRCm39) |
missense |
probably benign |
|
|
R0973:Ift172
|
UTSW |
5 |
31,415,262 (GRCm39) |
unclassified |
probably benign |
|
|
R0973:Ift172
|
UTSW |
5 |
31,422,699 (GRCm39) |
missense |
probably benign |
|
|
R1189:Ift172
|
UTSW |
5 |
31,443,174 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1205:Ift172
|
UTSW |
5 |
31,443,136 (GRCm39) |
missense |
probably benign |
|
|
R1289:Ift172
|
UTSW |
5 |
31,438,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1342:Ift172
|
UTSW |
5 |
31,419,210 (GRCm39) |
missense |
probably benign |
|
|
R1395:Ift172
|
UTSW |
5 |
31,442,582 (GRCm39) |
unclassified |
probably benign |
|
|
R1417:Ift172
|
UTSW |
5 |
31,413,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Ift172
|
UTSW |
5 |
31,424,585 (GRCm39) |
nonsense |
probably null |
|
|
R2111:Ift172
|
UTSW |
5 |
31,443,423 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2175:Ift172
|
UTSW |
5 |
31,424,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Ift172
|
UTSW |
5 |
31,420,312 (GRCm39) |
missense |
probably benign |
|
|
R2870:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3705:Ift172
|
UTSW |
5 |
31,418,781 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3793:Ift172
|
UTSW |
5 |
31,414,925 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4385:Ift172
|
UTSW |
5 |
31,444,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:Ift172
|
UTSW |
5 |
31,422,781 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4590:Ift172
|
UTSW |
5 |
31,411,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Ift172
|
UTSW |
5 |
31,441,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4665:Ift172
|
UTSW |
5 |
31,442,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4977:Ift172
|
UTSW |
5 |
31,429,460 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5109:Ift172
|
UTSW |
5 |
31,423,330 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5182:Ift172
|
UTSW |
5 |
31,424,958 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5343:Ift172
|
UTSW |
5 |
31,421,156 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5465:Ift172
|
UTSW |
5 |
31,418,862 (GRCm39) |
splice site |
probably null |
|
|
R5622:Ift172
|
UTSW |
5 |
31,440,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Ift172
|
UTSW |
5 |
31,412,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5793:Ift172
|
UTSW |
5 |
31,434,292 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5870:Ift172
|
UTSW |
5 |
31,434,284 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5919:Ift172
|
UTSW |
5 |
31,418,006 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5968:Ift172
|
UTSW |
5 |
31,418,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Ift172
|
UTSW |
5 |
31,414,241 (GRCm39) |
missense |
probably benign |
|
|
R6339:Ift172
|
UTSW |
5 |
31,444,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Ift172
|
UTSW |
5 |
31,413,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6355:Ift172
|
UTSW |
5 |
31,441,501 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6565:Ift172
|
UTSW |
5 |
31,433,227 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6668:Ift172
|
UTSW |
5 |
31,412,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6755:Ift172
|
UTSW |
5 |
31,418,342 (GRCm39) |
nonsense |
probably null |
|
|
R6818:Ift172
|
UTSW |
5 |
31,423,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6939:Ift172
|
UTSW |
5 |
31,414,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Ift172
|
UTSW |
5 |
31,414,730 (GRCm39) |
missense |
probably benign |
|
|
R7047:Ift172
|
UTSW |
5 |
31,433,238 (GRCm39) |
nonsense |
probably null |
|
|
R7156:Ift172
|
UTSW |
5 |
31,429,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Ift172
|
UTSW |
5 |
31,411,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Ift172
|
UTSW |
5 |
31,442,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Ift172
|
UTSW |
5 |
31,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Ift172
|
UTSW |
5 |
31,423,723 (GRCm39) |
nonsense |
probably null |
|
|
R7890:Ift172
|
UTSW |
5 |
31,440,425 (GRCm39) |
nonsense |
probably null |
|
|
R7980:Ift172
|
UTSW |
5 |
31,417,988 (GRCm39) |
missense |
probably benign |
|
|
R8263:Ift172
|
UTSW |
5 |
31,422,681 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8559:Ift172
|
UTSW |
5 |
31,413,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8717:Ift172
|
UTSW |
5 |
31,412,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774:Ift172
|
UTSW |
5 |
31,415,207 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8774-TAIL:Ift172
|
UTSW |
5 |
31,415,207 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9037:Ift172
|
UTSW |
5 |
31,420,400 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9038:Ift172
|
UTSW |
5 |
31,441,399 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9133:Ift172
|
UTSW |
5 |
31,442,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9607:Ift172
|
UTSW |
5 |
31,410,913 (GRCm39) |
missense |
|
|
|
X0022:Ift172
|
UTSW |
5 |
31,442,664 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Ift172
|
UTSW |
5 |
31,434,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACTGAAGAATAGCAACCCGGAG -3'
(R):5'- CTTGAGCAAAGCTGAGTATGGGACC -3'
Sequencing Primer
(F):5'- GGAGCCATCCTTCTCAGTG -3'
(R):5'- GAAGGACACAGTCTCTGTCTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation