Incidental Mutation 'R8158:Kif7'
| ID |
633364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif7
|
| Ensembl Gene |
ENSMUSG00000050382 |
| Gene Name |
kinesin family member 7 |
| Synonyms |
|
| MMRRC Submission |
067584-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79347846-79365468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79354442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 781
(D781G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059836]
[ENSMUST00000178048]
[ENSMUST00000183846]
[ENSMUST00000184137]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059836
AA Change: D781G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382
AA Change: D781G
| 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 damaging
Transcript: ENSMUST00000178048
AA Change: D781G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382
AA Change: D781G
| 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 damaging
Transcript: ENSMUST00000183846
AA Change: D781G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382
AA Change: D781G
| 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 damaging
Transcript: ENSMUST00000184137
AA Change: D781G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382
AA Change: D781G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
A |
1: 156,469,639 (GRCm39) |
S968T |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,655,655 (GRCm39) |
D608G |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,254,478 (GRCm39) |
V1162M |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,258,346 (GRCm39) |
V1040A |
probably benign |
Het |
| Amer3 |
A |
T |
1: 34,626,741 (GRCm39) |
T327S |
possibly damaging |
Het |
| Apaf1 |
C |
T |
10: 90,895,520 (GRCm39) |
C426Y |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,987,232 (GRCm39) |
D2840G |
unknown |
Het |
| Camsap1 |
A |
T |
2: 25,834,440 (GRCm39) |
C406* |
probably null |
Het |
| Cbr2 |
A |
T |
11: 120,621,123 (GRCm39) |
M158K |
probably damaging |
Het |
| Cgrrf1 |
T |
C |
14: 47,091,192 (GRCm39) |
S239P |
probably benign |
Het |
| Clnk |
C |
A |
5: 38,952,254 (GRCm39) |
|
probably null |
Het |
| Csad |
T |
C |
15: 102,086,197 (GRCm39) |
M445V |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,291,600 (GRCm39) |
N246Y |
probably damaging |
Het |
| Dok6 |
T |
C |
18: 89,492,071 (GRCm39) |
I169V |
probably benign |
Het |
| H2bc14 |
T |
C |
13: 21,906,631 (GRCm39) |
Y122H |
probably benign |
Het |
| Il1f10 |
T |
G |
2: 24,181,267 (GRCm39) |
I11R |
possibly damaging |
Het |
| Irs1 |
C |
T |
1: 82,267,254 (GRCm39) |
V321M |
probably damaging |
Het |
| Itga9 |
T |
C |
9: 118,706,211 (GRCm39) |
F938L |
probably damaging |
Het |
| Klhl41 |
A |
T |
2: 69,501,505 (GRCm39) |
N322I |
probably damaging |
Het |
| Krtap31-1 |
T |
G |
11: 99,798,901 (GRCm39) |
C35G |
possibly damaging |
Het |
| Lsm11 |
A |
T |
11: 45,824,824 (GRCm39) |
D234E |
probably benign |
Het |
| Med6 |
T |
C |
12: 81,620,677 (GRCm39) |
K223R |
probably benign |
Het |
| Mfsd4b2 |
G |
A |
10: 39,798,064 (GRCm39) |
T97I |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,204 (GRCm39) |
C158* |
probably null |
Het |
| Nr2e1 |
T |
C |
10: 42,458,881 (GRCm39) |
T8A |
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,887,838 (GRCm39) |
M1V |
probably null |
Het |
| Or13a27 |
T |
C |
7: 139,925,162 (GRCm39) |
I247V |
probably benign |
Het |
| Or14a260 |
T |
A |
7: 85,984,885 (GRCm39) |
I240F |
probably benign |
Het |
| Or1e33 |
T |
A |
11: 73,738,697 (GRCm39) |
M85L |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,066,504 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or8w1 |
T |
A |
2: 87,465,233 (GRCm39) |
N286I |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,537,538 (GRCm39) |
G1257D |
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,971,236 (GRCm39) |
T479A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,942,232 (GRCm39) |
N1516S |
probably benign |
Het |
| Qrich1 |
C |
A |
9: 108,433,236 (GRCm39) |
T622K |
probably damaging |
Het |
| Rasip1 |
A |
G |
7: 45,281,943 (GRCm39) |
K482R |
probably damaging |
Het |
| Rgl2 |
T |
C |
17: 34,155,918 (GRCm39) |
F698L |
probably benign |
Het |
| Scarb1 |
T |
C |
5: 125,380,201 (GRCm39) |
D124G |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,625,917 (GRCm39) |
I350T |
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,369,364 (GRCm39) |
V696G |
probably damaging |
Het |
| Serpina1e |
G |
T |
12: 103,917,354 (GRCm39) |
T105K |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,020,828 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,218,182 (GRCm39) |
T154A |
probably damaging |
Het |
| Slc9a3 |
T |
C |
13: 74,303,241 (GRCm39) |
L178P |
probably damaging |
Het |
| Smarca2 |
A |
C |
19: 26,659,448 (GRCm39) |
I913L |
probably benign |
Het |
| Spaca7b |
T |
A |
8: 11,715,056 (GRCm39) |
D46V |
probably damaging |
Het |
| Tcea3 |
G |
A |
4: 136,001,027 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
C |
10: 78,584,509 (GRCm39) |
Q338E |
probably benign |
Het |
| Tmcc1 |
T |
A |
6: 116,020,435 (GRCm39) |
H339L |
|
Het |
| Trpm2 |
G |
T |
10: 77,783,731 (GRCm39) |
H247Q |
probably damaging |
Het |
| Tyr |
T |
A |
7: 87,121,724 (GRCm39) |
D356V |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,888 (GRCm39) |
C565S |
probably damaging |
Het |
| Vmn2r82 |
A |
C |
10: 79,213,636 (GRCm39) |
N74T |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,973,260 (GRCm39) |
Y375H |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,675,353 (GRCm39) |
D2134E |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,464,010 (GRCm39) |
Y1414* |
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,867,626 (GRCm39) |
E267D |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,096 (GRCm39) |
C269S |
possibly damaging |
Het |
| Zp3 |
T |
A |
5: 136,014,418 (GRCm39) |
S246T |
probably benign |
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 |
|
R0053:Kif7
|
UTSW |
7 |
79,351,927 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCAGCTGACTCTAGCAC -3'
(R):5'- ATTCGGGTCACTCCTATGGG -3'
Sequencing Primer
(F):5'- GCTGACTCTAGCACCCCACG -3'
(R):5'- TTGAGTTCAAAGCCAGCCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation