Incidental Mutation 'R2419:Kif7'
ID |
249140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif7
|
Ensembl Gene |
ENSMUSG00000050382 |
Gene Name |
kinesin family member 7 |
Synonyms |
|
MMRRC Submission |
040381-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2419 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79347846-79365468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 79348441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 1300
(R1300L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035977]
[ENSMUST00000059836]
[ENSMUST00000178048]
[ENSMUST00000183846]
[ENSMUST00000184137]
[ENSMUST00000206591]
[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: R1300L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000061806 Gene: ENSMUSG00000050382 AA Change: R1300L
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: R1301L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000136993 Gene: ENSMUSG00000050382 AA Change: R1301L
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: R1301L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000139359 Gene: ENSMUSG00000050382 AA Change: R1301L
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: R1300L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000139224 Gene: ENSMUSG00000050382 AA Change: R1300L
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: ENSMUST00000206591
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206622
|
Meta Mutation Damage Score |
0.0701 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (57/58) |
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 |
Abca2 |
G |
A |
2: 25,328,001 (GRCm39) |
A768T |
probably benign |
Het |
Acyp2 |
T |
C |
11: 30,582,316 (GRCm39) |
Y33C |
probably benign |
Het |
Ampd3 |
A |
G |
7: 110,367,576 (GRCm39) |
|
probably benign |
Het |
Arap3 |
T |
C |
18: 38,122,997 (GRCm39) |
D501G |
probably damaging |
Het |
Arl4d |
A |
T |
11: 101,557,714 (GRCm39) |
Q80L |
probably damaging |
Het |
Bcorl1 |
A |
G |
X: 47,459,418 (GRCm39) |
T425A |
probably damaging |
Het |
Ccdc38 |
T |
A |
10: 93,384,837 (GRCm39) |
V35D |
probably benign |
Het |
Cd6 |
G |
A |
19: 10,770,216 (GRCm39) |
P492S |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 104,902,740 (GRCm39) |
S477N |
possibly damaging |
Het |
Cnmd |
G |
A |
14: 79,875,488 (GRCm39) |
P311S |
probably damaging |
Het |
Cnot8 |
G |
A |
11: 58,006,136 (GRCm39) |
G222R |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,986,241 (GRCm39) |
L1131* |
probably null |
Het |
Dscc1 |
G |
A |
15: 54,946,820 (GRCm39) |
R302* |
probably null |
Het |
Dusp18 |
T |
C |
11: 3,847,018 (GRCm39) |
S3P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,910,620 (GRCm39) |
|
probably benign |
Het |
Foxb2 |
G |
C |
19: 16,850,325 (GRCm39) |
A227G |
probably damaging |
Het |
Hey1 |
A |
G |
3: 8,731,003 (GRCm39) |
|
probably null |
Het |
Itk |
A |
G |
11: 46,229,044 (GRCm39) |
F379L |
probably damaging |
Het |
Kcna2 |
G |
A |
3: 107,011,469 (GRCm39) |
G17R |
probably benign |
Het |
Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
Leng9 |
A |
G |
7: 4,151,626 (GRCm39) |
V350A |
probably benign |
Het |
Lmbr1l |
A |
C |
15: 98,805,418 (GRCm39) |
F361C |
possibly damaging |
Het |
Lrat |
A |
G |
3: 82,810,992 (GRCm39) |
S10P |
probably damaging |
Het |
Lrrk2 |
C |
A |
15: 91,681,729 (GRCm39) |
|
probably benign |
Het |
Mcur1 |
C |
T |
13: 43,703,013 (GRCm39) |
V241M |
possibly damaging |
Het |
Met |
T |
C |
6: 17,535,829 (GRCm39) |
|
probably benign |
Het |
Mical3 |
A |
G |
6: 120,936,884 (GRCm39) |
V342A |
probably benign |
Het |
Nup210 |
G |
A |
6: 90,994,538 (GRCm39) |
|
probably benign |
Het |
Or1i2 |
T |
A |
10: 78,448,221 (GRCm39) |
I85F |
probably benign |
Het |
Or1j12 |
T |
A |
2: 36,343,338 (GRCm39) |
V247E |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,380 (GRCm39) |
N190S |
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,224,381 (GRCm39) |
L398P |
probably benign |
Het |
Phc3 |
T |
C |
3: 31,005,027 (GRCm39) |
M189V |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,104,020 (GRCm39) |
|
probably benign |
Het |
Plcxd3 |
G |
T |
15: 4,604,245 (GRCm39) |
K284N |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,045,272 (GRCm39) |
V1058A |
possibly damaging |
Het |
Rbbp5 |
T |
C |
1: 132,421,564 (GRCm39) |
I88T |
possibly damaging |
Het |
Rfpl4b |
T |
C |
10: 38,697,368 (GRCm39) |
R78G |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Samt2 |
A |
T |
X: 153,358,223 (GRCm39) |
|
probably null |
Het |
Sdad1 |
T |
C |
5: 92,453,677 (GRCm39) |
H37R |
possibly damaging |
Het |
Setd2 |
T |
A |
9: 110,378,065 (GRCm39) |
F627I |
possibly damaging |
Het |
Ski |
A |
G |
4: 155,245,350 (GRCm39) |
S293P |
probably benign |
Het |
Slc27a1 |
A |
G |
8: 72,032,560 (GRCm39) |
E191G |
possibly damaging |
Het |
Snx18 |
T |
C |
13: 113,753,755 (GRCm39) |
M393V |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,974,146 (GRCm39) |
T1160A |
possibly damaging |
Het |
Tacc1 |
A |
G |
8: 25,672,829 (GRCm39) |
V42A |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,415,983 (GRCm39) |
F897L |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,729,693 (GRCm39) |
D1438N |
possibly damaging |
Het |
Tmem62 |
G |
A |
2: 120,837,586 (GRCm39) |
G501E |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,687,641 (GRCm39) |
K1167E |
probably damaging |
Het |
Trap1 |
A |
G |
16: 3,886,194 (GRCm39) |
S88P |
probably benign |
Het |
Ugt2b38 |
T |
C |
5: 87,571,591 (GRCm39) |
D147G |
probably damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,824 (GRCm39) |
N227I |
probably benign |
Het |
Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
Vmn1r204 |
T |
G |
13: 22,740,420 (GRCm39) |
L17R |
probably damaging |
Het |
Zcchc14 |
T |
A |
8: 122,330,675 (GRCm39) |
Q896L |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,185,307 (GRCm39) |
K446E |
possibly damaging |
Het |
Zpr1 |
T |
C |
9: 46,187,490 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAGGCAGTCTCTCCTCTC -3'
(R):5'- TGGAAAACAGACAATGCCTTG -3'
Sequencing Primer
(F):5'- AGTCTCTCCTCTCAGCAGGAC -3'
(R):5'- CCTTGGAAATGAAGATGGGCTCC -3'
|
Posted On |
2014-11-12 |