Incidental Mutation 'R9203:Kif7'
| ID |
698318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif7
|
| Ensembl Gene |
ENSMUSG00000050382 |
| Gene Name |
kinesin family member 7 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9203 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79347846-79365468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79354472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 771
(L771R)
|
| 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: L771R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382
AA Change: L771R
| 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: L771R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382
AA Change: L771R
| 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: L771R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382
AA Change: L771R
| 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: L771R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382
AA Change: L771R
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
T |
C |
2: 128,465,422 (GRCm39) |
H1686R |
possibly damaging |
Het |
| Ankrd33b |
A |
G |
15: 31,298,028 (GRCm39) |
M243T |
probably benign |
Het |
| Appl1 |
G |
T |
14: 26,682,970 (GRCm39) |
S104* |
probably null |
Het |
| Appl2 |
A |
T |
10: 83,476,879 (GRCm39) |
Y48* |
probably null |
Het |
| Cacna1d |
T |
C |
14: 29,773,669 (GRCm39) |
N1694S |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,891,179 (GRCm39) |
D1372Y |
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,422,196 (GRCm39) |
R107C |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cfap54 |
T |
G |
10: 92,880,990 (GRCm39) |
M358L |
probably benign |
Het |
| Csnka2ip |
T |
A |
16: 64,298,630 (GRCm39) |
D578V |
unknown |
Het |
| Ctns |
T |
C |
11: 73,082,563 (GRCm39) |
I56V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,746,113 (GRCm39) |
I4000T |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,622,366 (GRCm39) |
V91A |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,885 (GRCm39) |
H335R |
probably damaging |
Het |
| Eno1 |
C |
T |
4: 150,332,539 (GRCm39) |
R400* |
probably null |
Het |
| Fam114a1 |
C |
A |
5: 65,137,300 (GRCm39) |
P81H |
probably damaging |
Het |
| Gemin6 |
A |
G |
17: 80,535,237 (GRCm39) |
T66A |
probably benign |
Het |
| Grm4 |
T |
C |
17: 27,653,980 (GRCm39) |
I657V |
probably benign |
Het |
| H2ac22 |
T |
C |
13: 21,971,057 (GRCm39) |
N111S |
probably benign |
Het |
| Has3 |
T |
C |
8: 107,600,852 (GRCm39) |
C105R |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,243 (GRCm39) |
E170G |
probably benign |
Het |
| Hoxd3 |
T |
C |
2: 74,576,744 (GRCm39) |
V208A |
probably damaging |
Het |
| Hypk |
C |
T |
2: 121,288,163 (GRCm39) |
Q75* |
probably null |
Het |
| Itpkb |
T |
A |
1: 180,161,004 (GRCm39) |
W377R |
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,755,987 (GRCm39) |
V583E |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 940,981 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Krt9 |
C |
G |
11: 100,079,734 (GRCm39) |
G553R |
unknown |
Het |
| Lama3 |
G |
A |
18: 12,595,869 (GRCm39) |
A933T |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,462,984 (GRCm39) |
I7406T |
unknown |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Ntng2 |
G |
T |
2: 29,084,998 (GRCm39) |
C535* |
probably null |
Het |
| Omg |
A |
G |
11: 79,393,051 (GRCm39) |
M269T |
probably benign |
Het |
| Or1x6 |
A |
T |
11: 50,939,161 (GRCm39) |
T76S |
possibly damaging |
Het |
| Or52e3 |
A |
T |
7: 102,869,862 (GRCm39) |
*312C |
probably null |
Het |
| Parp2 |
T |
C |
14: 51,056,850 (GRCm39) |
S325P |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,728,528 (GRCm39) |
T2462M |
unknown |
Het |
| Pi4ka |
G |
T |
16: 17,100,165 (GRCm39) |
H1912N |
|
Het |
| Piezo2 |
T |
C |
18: 63,290,302 (GRCm39) |
I152M |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,990 (GRCm39) |
L60Q |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,953,481 (GRCm39) |
K379* |
probably null |
Het |
| Poll |
T |
C |
19: 45,542,091 (GRCm39) |
N405S |
probably benign |
Het |
| Pou6f2 |
T |
A |
13: 18,303,615 (GRCm39) |
I467F |
|
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,382 (GRCm39) |
I324M |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,574,970 (GRCm39) |
I350F |
probably damaging |
Het |
| Slpi |
C |
T |
2: 164,196,817 (GRCm39) |
V126I |
probably benign |
Het |
| Smarca5 |
C |
T |
8: 81,431,258 (GRCm39) |
W986* |
probably null |
Het |
| Sorcs1 |
A |
G |
19: 50,250,733 (GRCm39) |
I366T |
probably damaging |
Het |
| Sv2c |
G |
T |
13: 96,224,745 (GRCm39) |
S188* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 177,996,906 (GRCm39) |
K1099R |
probably damaging |
Het |
| Tdp2 |
C |
A |
13: 25,020,916 (GRCm39) |
Y178* |
probably null |
Het |
| Trabd2b |
A |
G |
4: 114,460,122 (GRCm39) |
E420G |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,294,975 (GRCm39) |
H550Q |
probably benign |
Het |
| Vmn2r66 |
T |
C |
7: 84,654,950 (GRCm39) |
K453R |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,112,657 (GRCm39) |
M1V |
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,902,684 (GRCm39) |
S646L |
probably benign |
Het |
| Zfp219 |
A |
T |
14: 52,246,405 (GRCm39) |
S241T |
probably damaging |
Het |
| Zfp24 |
G |
A |
18: 24,147,326 (GRCm39) |
H329Y |
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 |
|
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 |
|
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 |
|
X0063:Kif7
|
UTSW |
7 |
79,352,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAAGCCGGCCTAGATAGAG -3'
(R):5'- CAGTGCTCCAGACTGACAG -3'
Sequencing Primer
(F):5'- GGTTAGAAGGAGTGACTGCCCTC -3'
(R):5'- CTGACAGGGCCTGGGAAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation