Incidental Mutation 'R0016:Kif27'
| ID |
32716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif27
|
| Ensembl Gene |
ENSMUSG00000060176 |
| Gene Name |
kinesin family member 27 |
| Synonyms |
4930517I18Rik |
| MMRRC Submission |
038311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R0016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
58435316-58506936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58502528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 50
(V50A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043605]
[ENSMUST00000224694]
[ENSMUST00000225388]
|
| AlphaFold |
Q7M6Z4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043605
AA Change: V50A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043304
Gene: ENSMUSG00000060176
AA Change: V50A
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
349 |
9.18e-160 |
SMART |
|
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
|
coiled coil region
|
386 |
418 |
N/A |
INTRINSIC |
|
Blast:KISc
|
486 |
566 |
5e-29 |
BLAST |
|
coiled coil region
|
710 |
790 |
N/A |
INTRINSIC |
|
coiled coil region
|
835 |
891 |
N/A |
INTRINSIC |
|
coiled coil region
|
916 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1008 |
N/A |
INTRINSIC |
|
coiled coil region
|
1010 |
1078 |
N/A |
INTRINSIC |
|
coiled coil region
|
1186 |
1226 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224694
AA Change: V50A
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225388
AA Change: V50A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.0996 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mice are small and die by 8 weeks and exhibit hydrocephalus, rhinitis and otitis media. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted(2) Gene trapped(7)
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
| Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
| C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
| Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
| Cdh16 |
T |
A |
8: 105,344,264 (GRCm39) |
T92S |
probably benign |
Het |
| Chrd |
G |
C |
16: 20,553,058 (GRCm39) |
V162L |
possibly damaging |
Het |
| Cpne8 |
A |
G |
15: 90,385,608 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
| Cyp4a10 |
A |
T |
4: 115,378,304 (GRCm39) |
Q130L |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,845,674 (GRCm39) |
S294P |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,882,290 (GRCm39) |
I621V |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
| Elovl3 |
T |
A |
19: 46,120,597 (GRCm39) |
F30Y |
probably damaging |
Het |
| Fa2h |
T |
C |
8: 112,120,146 (GRCm39) |
Y80C |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
| Gm17067 |
A |
T |
7: 42,358,046 (GRCm39) |
I152K |
probably benign |
Het |
| Gvin3 |
G |
A |
7: 106,202,453 (GRCm39) |
L264F |
probably benign |
Het |
| Kpna2 |
T |
C |
11: 106,881,912 (GRCm39) |
T305A |
probably benign |
Het |
| Krtap22-2 |
A |
G |
16: 88,807,407 (GRCm39) |
|
probably benign |
Het |
| Lrp2bp |
T |
A |
8: 46,465,068 (GRCm39) |
F62L |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
| Mob3b |
A |
G |
4: 35,083,947 (GRCm39) |
F81L |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,871,451 (GRCm39) |
V389M |
probably damaging |
Het |
| Myef2l |
A |
T |
3: 10,154,379 (GRCm39) |
M383L |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,341,707 (GRCm39) |
|
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,832,924 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
T |
2: 156,109,114 (GRCm39) |
K154* |
probably null |
Het |
| Pip4p1 |
C |
T |
14: 51,166,351 (GRCm39) |
R213Q |
probably damaging |
Het |
| Plekhj1 |
T |
C |
10: 80,632,250 (GRCm39) |
D74G |
possibly damaging |
Het |
| Plpp4 |
T |
C |
7: 128,925,148 (GRCm39) |
C128R |
probably damaging |
Het |
| Rcan3 |
A |
T |
4: 135,145,689 (GRCm39) |
|
probably null |
Het |
| Sh3rf1 |
T |
A |
8: 61,827,172 (GRCm39) |
M642K |
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,271,393 (GRCm39) |
V522A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
| Spry2 |
C |
T |
14: 106,130,731 (GRCm39) |
V152M |
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
| Stag3 |
A |
G |
5: 138,289,643 (GRCm39) |
H271R |
possibly damaging |
Het |
| Stat4 |
T |
C |
1: 52,107,939 (GRCm39) |
V136A |
probably benign |
Het |
| Stc2 |
A |
T |
11: 31,310,177 (GRCm39) |
D286E |
probably benign |
Het |
| Stk31 |
T |
C |
6: 49,414,311 (GRCm39) |
Y482H |
probably damaging |
Het |
| Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
| Ticrr |
C |
T |
7: 79,343,540 (GRCm39) |
P1135L |
probably benign |
Het |
| Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
| Vmn1r78 |
A |
C |
7: 11,887,279 (GRCm39) |
S297R |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,676,810 (GRCm39) |
M2620T |
probably benign |
Het |
| Zkscan2 |
C |
A |
7: 123,099,219 (GRCm39) |
|
probably benign |
Het |
| Zwint |
T |
C |
10: 72,493,030 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kif27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Kif27
|
APN |
13 |
58,485,418 (GRCm39) |
missense |
probably benign |
|
|
IGL00421:Kif27
|
APN |
13 |
58,491,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00903:Kif27
|
APN |
13 |
58,492,486 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01024:Kif27
|
APN |
13 |
58,436,015 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01070:Kif27
|
APN |
13 |
58,491,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01761:Kif27
|
APN |
13 |
58,485,459 (GRCm39) |
missense |
probably benign |
|
|
IGL02160:Kif27
|
APN |
13 |
58,473,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Kif27
|
APN |
13 |
58,459,021 (GRCm39) |
missense |
probably benign |
0.03 |
|
P0016:Kif27
|
UTSW |
13 |
58,451,266 (GRCm39) |
nonsense |
probably null |
|
|
R0016:Kif27
|
UTSW |
13 |
58,502,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Kif27
|
UTSW |
13 |
58,435,867 (GRCm39) |
missense |
probably benign |
|
|
R0018:Kif27
|
UTSW |
13 |
58,435,867 (GRCm39) |
missense |
probably benign |
|
|
R0049:Kif27
|
UTSW |
13 |
58,451,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Kif27
|
UTSW |
13 |
58,451,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Kif27
|
UTSW |
13 |
58,459,078 (GRCm39) |
splice site |
probably benign |
|
|
R0960:Kif27
|
UTSW |
13 |
58,471,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1015:Kif27
|
UTSW |
13 |
58,468,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1205:Kif27
|
UTSW |
13 |
58,492,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1478:Kif27
|
UTSW |
13 |
58,451,359 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1789:Kif27
|
UTSW |
13 |
58,491,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Kif27
|
UTSW |
13 |
58,440,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1961:Kif27
|
UTSW |
13 |
58,440,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3508:Kif27
|
UTSW |
13 |
58,461,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4168:Kif27
|
UTSW |
13 |
58,493,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4247:Kif27
|
UTSW |
13 |
58,435,731 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4307:Kif27
|
UTSW |
13 |
58,491,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4621:Kif27
|
UTSW |
13 |
58,478,827 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4660:Kif27
|
UTSW |
13 |
58,471,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4661:Kif27
|
UTSW |
13 |
58,471,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4736:Kif27
|
UTSW |
13 |
58,476,785 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4770:Kif27
|
UTSW |
13 |
58,492,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4853:Kif27
|
UTSW |
13 |
58,459,072 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4963:Kif27
|
UTSW |
13 |
58,476,808 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4998:Kif27
|
UTSW |
13 |
58,440,957 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5134:Kif27
|
UTSW |
13 |
58,438,904 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5225:Kif27
|
UTSW |
13 |
58,440,915 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5835:Kif27
|
UTSW |
13 |
58,460,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5875:Kif27
|
UTSW |
13 |
58,458,918 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5929:Kif27
|
UTSW |
13 |
58,491,784 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6175:Kif27
|
UTSW |
13 |
58,459,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6446:Kif27
|
UTSW |
13 |
58,493,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6628:Kif27
|
UTSW |
13 |
58,502,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Kif27
|
UTSW |
13 |
58,436,025 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8381:Kif27
|
UTSW |
13 |
58,438,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8815:Kif27
|
UTSW |
13 |
58,476,818 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8993:Kif27
|
UTSW |
13 |
58,473,912 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9181:Kif27
|
UTSW |
13 |
58,492,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Kif27
|
UTSW |
13 |
58,492,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Kif27
|
UTSW |
13 |
58,435,847 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCAACATGGCCTCCTCCGATG -3'
(R):5'- CCAGTCCCCGCAACTATTTTGAAGC -3'
Sequencing Primer
(F):5'- ATGGTGTATGTTTTCCCAGATCCAG -3'
(R):5'- TATGCAGGAGTCCAGAGCTTAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation