Incidental Mutation 'R0053:Kif7'
ID |
16039 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif7
|
Ensembl Gene |
ENSMUSG00000050382 |
Gene Name |
kinesin family member 7 |
Synonyms |
|
MMRRC Submission |
038347-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0053 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79347846-79365468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79351927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 945
(V945A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035977]
[ENSMUST00000059836]
[ENSMUST00000178048]
[ENSMUST00000183846]
[ENSMUST00000184137]
[ENSMUST00000206622]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035977
|
SMART Domains |
Protein: ENSMUSP00000041377 Gene: ENSMUSG00000046591
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
Pfam:Treslin_N
|
211 |
1005 |
N/A |
PFAM |
low complexity region
|
1186 |
1197 |
N/A |
INTRINSIC |
low complexity region
|
1220 |
1235 |
N/A |
INTRINSIC |
low complexity region
|
1339 |
1359 |
N/A |
INTRINSIC |
low complexity region
|
1472 |
1480 |
N/A |
INTRINSIC |
low complexity region
|
1496 |
1514 |
N/A |
INTRINSIC |
low complexity region
|
1630 |
1643 |
N/A |
INTRINSIC |
low complexity region
|
1694 |
1707 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000059836
AA Change: V945A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000061806 Gene: ENSMUSG00000050382 AA Change: V945A
Domain | Start | End | E-Value | Type |
KISc
|
13 |
357 |
2.88e-143 |
SMART |
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
Blast:KISc
|
413 |
481 |
1e-19 |
BLAST |
Blast:KISc
|
482 |
518 |
3e-11 |
BLAST |
low complexity region
|
523 |
540 |
N/A |
INTRINSIC |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
low complexity region
|
621 |
636 |
N/A |
INTRINSIC |
low complexity region
|
669 |
685 |
N/A |
INTRINSIC |
Blast:KISc
|
780 |
879 |
2e-15 |
BLAST |
low complexity region
|
927 |
944 |
N/A |
INTRINSIC |
low complexity region
|
979 |
993 |
N/A |
INTRINSIC |
low complexity region
|
1049 |
1061 |
N/A |
INTRINSIC |
coiled coil region
|
1113 |
1139 |
N/A |
INTRINSIC |
coiled coil region
|
1186 |
1205 |
N/A |
INTRINSIC |
low complexity region
|
1293 |
1304 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178048
AA Change: V946A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136993 Gene: ENSMUSG00000050382 AA Change: V946A
Domain | Start | End | E-Value | Type |
KISc
|
13 |
357 |
2.88e-143 |
SMART |
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
Blast:KISc
|
413 |
481 |
1e-19 |
BLAST |
Blast:KISc
|
482 |
518 |
3e-11 |
BLAST |
low complexity region
|
523 |
540 |
N/A |
INTRINSIC |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
low complexity region
|
621 |
636 |
N/A |
INTRINSIC |
low complexity region
|
669 |
685 |
N/A |
INTRINSIC |
Blast:KISc
|
780 |
879 |
2e-15 |
BLAST |
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
low complexity region
|
928 |
945 |
N/A |
INTRINSIC |
low complexity region
|
980 |
994 |
N/A |
INTRINSIC |
low complexity region
|
1050 |
1062 |
N/A |
INTRINSIC |
coiled coil region
|
1114 |
1140 |
N/A |
INTRINSIC |
coiled coil region
|
1187 |
1206 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1305 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183846
AA Change: V946A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139359 Gene: ENSMUSG00000050382 AA Change: V946A
Domain | Start | End | E-Value | Type |
KISc
|
13 |
357 |
2.88e-143 |
SMART |
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
Blast:KISc
|
413 |
481 |
1e-19 |
BLAST |
Blast:KISc
|
482 |
518 |
3e-11 |
BLAST |
low complexity region
|
523 |
540 |
N/A |
INTRINSIC |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
low complexity region
|
621 |
636 |
N/A |
INTRINSIC |
low complexity region
|
669 |
685 |
N/A |
INTRINSIC |
Blast:KISc
|
780 |
879 |
2e-15 |
BLAST |
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
low complexity region
|
928 |
945 |
N/A |
INTRINSIC |
low complexity region
|
980 |
994 |
N/A |
INTRINSIC |
low complexity region
|
1050 |
1062 |
N/A |
INTRINSIC |
coiled coil region
|
1114 |
1140 |
N/A |
INTRINSIC |
coiled coil region
|
1187 |
1206 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1305 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184137
AA Change: V945A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139224 Gene: ENSMUSG00000050382 AA Change: V945A
Domain | Start | End | E-Value | Type |
KISc
|
13 |
357 |
2.88e-143 |
SMART |
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
Blast:KISc
|
413 |
481 |
1e-19 |
BLAST |
Blast:KISc
|
482 |
518 |
3e-11 |
BLAST |
low complexity region
|
523 |
540 |
N/A |
INTRINSIC |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
low complexity region
|
621 |
636 |
N/A |
INTRINSIC |
low complexity region
|
669 |
685 |
N/A |
INTRINSIC |
Blast:KISc
|
780 |
879 |
2e-15 |
BLAST |
low complexity region
|
927 |
944 |
N/A |
INTRINSIC |
low complexity region
|
979 |
993 |
N/A |
INTRINSIC |
low complexity region
|
1049 |
1061 |
N/A |
INTRINSIC |
coiled coil region
|
1113 |
1139 |
N/A |
INTRINSIC |
coiled coil region
|
1186 |
1205 |
N/A |
INTRINSIC |
low complexity region
|
1293 |
1304 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206622
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 89.7%
- 3x: 87.2%
- 10x: 81.1%
- 20x: 72.5%
|
Validation Efficiency |
94% (72/77) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp10b |
A |
G |
11: 43,107,391 (GRCm39) |
|
probably benign |
Het |
AY761185 |
A |
T |
8: 21,434,546 (GRCm39) |
|
probably benign |
Het |
BC048671 |
G |
A |
6: 90,282,076 (GRCm39) |
V78I |
probably benign |
Het |
Cadm1 |
C |
T |
9: 47,710,712 (GRCm39) |
T205I |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,322,318 (GRCm39) |
I413V |
possibly damaging |
Het |
Cblb |
C |
T |
16: 51,963,164 (GRCm39) |
T369I |
probably damaging |
Het |
Ccdc54 |
T |
A |
16: 50,410,597 (GRCm39) |
N223I |
probably benign |
Het |
Cdc25c |
A |
G |
18: 34,868,488 (GRCm39) |
V294A |
probably benign |
Het |
Cep170 |
A |
T |
1: 176,609,946 (GRCm39) |
S122T |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,967,451 (GRCm39) |
N849D |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,505,023 (GRCm39) |
W2051R |
probably benign |
Het |
Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
Fbxw9 |
T |
A |
8: 85,791,083 (GRCm39) |
L250Q |
probably damaging |
Het |
Fry |
C |
A |
5: 150,384,842 (GRCm39) |
|
probably benign |
Het |
Gm19993 |
A |
G |
1: 19,905,272 (GRCm39) |
|
|
Het |
Gpr75 |
A |
T |
11: 30,842,571 (GRCm39) |
Q492L |
possibly damaging |
Het |
Hc |
C |
T |
2: 34,947,287 (GRCm39) |
E76K |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,007,865 (GRCm39) |
C1488R |
probably damaging |
Het |
Inava |
C |
T |
1: 136,155,288 (GRCm39) |
V106I |
probably benign |
Het |
Insr |
A |
G |
8: 3,205,683 (GRCm39) |
S1369P |
probably damaging |
Het |
Insrr |
A |
C |
3: 87,707,759 (GRCm39) |
D67A |
probably damaging |
Het |
Irf2 |
T |
A |
8: 47,271,886 (GRCm39) |
Y158N |
probably benign |
Het |
Izumo3 |
A |
T |
4: 92,033,267 (GRCm39) |
Y110N |
probably damaging |
Het |
Katnbl1 |
A |
G |
2: 112,234,586 (GRCm39) |
R23G |
probably benign |
Het |
Lamb2 |
T |
A |
9: 108,363,936 (GRCm39) |
C987* |
probably null |
Het |
Mmp14 |
T |
A |
14: 54,676,109 (GRCm39) |
|
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,402,562 (GRCm39) |
Y258H |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,602,778 (GRCm39) |
|
probably benign |
Het |
Nr5a1 |
C |
T |
2: 38,584,178 (GRCm39) |
G414R |
probably damaging |
Het |
Parp10 |
T |
A |
15: 76,126,446 (GRCm39) |
L247F |
probably damaging |
Het |
Pcsk6 |
C |
T |
7: 65,633,451 (GRCm39) |
|
probably benign |
Het |
Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
Plcb1 |
A |
G |
2: 135,136,835 (GRCm39) |
E310G |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,586,892 (GRCm39) |
D385G |
probably damaging |
Het |
Pole |
A |
T |
5: 110,441,206 (GRCm39) |
D220V |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,229,088 (GRCm39) |
D711E |
probably benign |
Het |
Rufy1 |
A |
T |
11: 50,292,292 (GRCm39) |
M499K |
probably benign |
Het |
Scn1a |
T |
G |
2: 66,130,119 (GRCm39) |
D1232A |
probably benign |
Het |
Sf3b1 |
G |
A |
1: 55,039,532 (GRCm39) |
Q698* |
probably null |
Het |
Shprh |
A |
T |
10: 11,070,116 (GRCm39) |
|
probably null |
Het |
Snd1 |
C |
A |
6: 28,745,334 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,862,644 (GRCm39) |
A2260T |
possibly damaging |
Het |
Strn |
T |
C |
17: 78,964,363 (GRCm39) |
H687R |
possibly damaging |
Het |
Tgfb3 |
A |
T |
12: 86,124,603 (GRCm39) |
I35N |
probably damaging |
Het |
Tnks2 |
T |
C |
19: 36,852,765 (GRCm39) |
S166P |
probably damaging |
Het |
Ttll9 |
A |
T |
2: 152,804,426 (GRCm39) |
|
probably benign |
Het |
Tyw5 |
G |
A |
1: 57,440,597 (GRCm39) |
T55M |
probably damaging |
Het |
Usp19 |
A |
G |
9: 108,374,369 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
T |
5: 101,992,480 (GRCm39) |
M3384K |
probably damaging |
Het |
Zfp13 |
A |
T |
17: 23,795,122 (GRCm39) |
I483N |
probably damaging |
Het |
|
Other mutations in Kif7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01545:Kif7
|
APN |
7 |
79,352,026 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01551:Kif7
|
APN |
7 |
79,360,314 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01897:Kif7
|
APN |
7 |
79,350,800 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02541:Kif7
|
APN |
7 |
79,360,628 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02873:Kif7
|
APN |
7 |
79,356,507 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03409:Kif7
|
APN |
7 |
79,357,301 (GRCm39) |
missense |
probably benign |
0.04 |
PIT4131001:Kif7
|
UTSW |
7 |
79,360,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R0243:Kif7
|
UTSW |
7 |
79,349,308 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0280:Kif7
|
UTSW |
7 |
79,348,571 (GRCm39) |
missense |
probably benign |
|
R0492:Kif7
|
UTSW |
7 |
79,363,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R0563:Kif7
|
UTSW |
7 |
79,352,020 (GRCm39) |
missense |
probably benign |
0.00 |
R1557:Kif7
|
UTSW |
7 |
79,363,905 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R1637:Kif7
|
UTSW |
7 |
79,352,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Kif7
|
UTSW |
7 |
79,360,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R1934:Kif7
|
UTSW |
7 |
79,361,286 (GRCm39) |
missense |
probably benign |
0.03 |
R1988:Kif7
|
UTSW |
7 |
79,348,989 (GRCm39) |
missense |
probably benign |
|
R2259:Kif7
|
UTSW |
7 |
79,361,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R2418:Kif7
|
UTSW |
7 |
79,348,441 (GRCm39) |
missense |
probably benign |
0.05 |
R2419:Kif7
|
UTSW |
7 |
79,348,441 (GRCm39) |
missense |
probably benign |
0.05 |
R2511:Kif7
|
UTSW |
7 |
79,352,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R2975:Kif7
|
UTSW |
7 |
79,360,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R3711:Kif7
|
UTSW |
7 |
79,360,640 (GRCm39) |
missense |
probably benign |
0.40 |
R3813:Kif7
|
UTSW |
7 |
79,363,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R4258:Kif7
|
UTSW |
7 |
79,360,261 (GRCm39) |
nonsense |
probably null |
|
R4543:Kif7
|
UTSW |
7 |
79,357,296 (GRCm39) |
missense |
probably benign |
0.03 |
R4648:Kif7
|
UTSW |
7 |
79,358,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R5650:Kif7
|
UTSW |
7 |
79,360,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Kif7
|
UTSW |
7 |
79,360,880 (GRCm39) |
intron |
probably benign |
|
R6025:Kif7
|
UTSW |
7 |
79,354,388 (GRCm39) |
missense |
probably benign |
0.34 |
R6056:Kif7
|
UTSW |
7 |
79,363,842 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6245:Kif7
|
UTSW |
7 |
79,351,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R6392:Kif7
|
UTSW |
7 |
79,351,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R6464:Kif7
|
UTSW |
7 |
79,363,842 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7513:Kif7
|
UTSW |
7 |
79,360,776 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7728:Kif7
|
UTSW |
7 |
79,360,478 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8158:Kif7
|
UTSW |
7 |
79,354,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R8494:Kif7
|
UTSW |
7 |
79,360,145 (GRCm39) |
missense |
probably benign |
0.17 |
R8844:Kif7
|
UTSW |
7 |
79,357,280 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8880:Kif7
|
UTSW |
7 |
79,348,650 (GRCm39) |
missense |
probably benign |
0.05 |
R8944:Kif7
|
UTSW |
7 |
79,360,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R9142:Kif7
|
UTSW |
7 |
79,356,585 (GRCm39) |
missense |
probably benign |
0.00 |
R9203:Kif7
|
UTSW |
7 |
79,354,472 (GRCm39) |
missense |
probably damaging |
1.00 |
X0063:Kif7
|
UTSW |
7 |
79,352,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-01-08 |