Incidental Mutation 'R4258:Kif7'
| ID |
321902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif7
|
| Ensembl Gene |
ENSMUSG00000050382 |
| Gene Name |
kinesin family member 7 |
| Synonyms |
|
| MMRRC Submission |
041071-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4258 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79347846-79365468 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 79360261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 325
(C325*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059836]
[ENSMUST00000178048]
[ENSMUST00000183846]
[ENSMUST00000184137]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000035939
|
| SMART Domains |
Protein: ENSMUSP00000039696
Gene: ENSMUSG00000039133
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
101 |
123 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000059836
AA Change: C325*
|
| SMART Domains |
Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382
AA Change: C325*
| 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 null
Transcript: ENSMUST00000178048
AA Change: C325*
|
| SMART Domains |
Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382
AA Change: C325*
| 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 null
Transcript: ENSMUST00000183846
AA Change: C325*
|
| SMART Domains |
Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382
AA Change: C325*
| 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 null
Transcript: ENSMUST00000184137
AA Change: C325*
|
| SMART Domains |
Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382
AA Change: C325*
| 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 |
noncoding transcript
Transcript: ENSMUST00000197011
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (60/63) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
T |
A |
17: 54,031,441 (GRCm39) |
|
noncoding transcript |
Het |
| Ank3 |
T |
C |
10: 69,840,592 (GRCm39) |
I984T |
probably benign |
Het |
| Arnt2 |
T |
C |
7: 83,960,163 (GRCm39) |
T204A |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
| Aspg |
A |
T |
12: 112,087,687 (GRCm39) |
N346I |
probably benign |
Het |
| Brdt |
A |
G |
5: 107,507,775 (GRCm39) |
S668G |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,150,392 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
A |
T |
19: 47,937,923 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
C |
A |
17: 56,363,474 (GRCm39) |
H319Q |
unknown |
Het |
| Colec12 |
T |
C |
18: 9,720,950 (GRCm39) |
S13P |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cyp2c65 |
A |
C |
19: 39,081,872 (GRCm39) |
D466A |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,248 (GRCm39) |
K266E |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 138,990,678 (GRCm39) |
R214L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,818,854 (GRCm39) |
I1533V |
probably benign |
Het |
| Dynlt1a |
C |
T |
17: 6,361,184 (GRCm39) |
M102I |
probably benign |
Het |
| Edil3 |
G |
T |
13: 89,325,272 (GRCm39) |
L220F |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,831,693 (GRCm39) |
Y383H |
probably benign |
Het |
| Epc1 |
T |
A |
18: 6,450,130 (GRCm39) |
T393S |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,041,076 (GRCm39) |
D164V |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,284,841 (GRCm39) |
N16I |
probably damaging |
Het |
| Gdf6 |
G |
A |
4: 9,844,877 (GRCm39) |
V134I |
probably damaging |
Het |
| Gm5475 |
A |
G |
15: 100,322,117 (GRCm39) |
|
probably benign |
Het |
| Gm6430 |
T |
G |
1: 96,952,561 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv9-4 |
A |
T |
12: 114,263,765 (GRCm39) |
V56E |
probably damaging |
Het |
| Il3ra |
A |
T |
14: 14,347,961 (GRCm38) |
N36Y |
probably damaging |
Het |
| Lipo2 |
A |
T |
19: 33,708,328 (GRCm39) |
F229I |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,352,656 (GRCm39) |
K1935E |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,017 (GRCm39) |
D2672E |
possibly damaging |
Het |
| Mtf1 |
A |
G |
4: 124,732,576 (GRCm39) |
T545A |
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,004,812 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,409 (GRCm39) |
V1672A |
probably damaging |
Het |
| Nudt16l2 |
T |
C |
9: 105,020,767 (GRCm39) |
I165V |
probably damaging |
Het |
| Or10al6 |
C |
A |
17: 38,082,949 (GRCm39) |
P135Q |
probably damaging |
Het |
| Or10j5 |
C |
T |
1: 172,785,205 (GRCm39) |
T281I |
possibly damaging |
Het |
| Or4k36 |
A |
T |
2: 111,145,983 (GRCm39) |
H53L |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 87,923,362 (GRCm39) |
N306I |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,825,102 (GRCm39) |
I698F |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,978,572 (GRCm39) |
H665Y |
probably damaging |
Het |
| Ppil6 |
T |
A |
10: 41,383,531 (GRCm39) |
L99* |
probably null |
Het |
| Psg22 |
T |
A |
7: 18,458,554 (GRCm39) |
V376E |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,439,433 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
T |
A |
3: 68,525,963 (GRCm39) |
M379K |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,395,398 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,864,322 (GRCm39) |
A622T |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,156,076 (GRCm39) |
I292N |
probably damaging |
Het |
| Ssxb17 |
C |
T |
X: 21,041,167 (GRCm39) |
S45N |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,876,629 (GRCm39) |
R862C |
possibly damaging |
Het |
| Tdrd5 |
T |
A |
1: 156,087,312 (GRCm39) |
H870L |
probably benign |
Het |
| Tnfaip8 |
A |
G |
18: 50,223,443 (GRCm39) |
R60G |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,880,254 (GRCm39) |
R25Q |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,601,150 (GRCm39) |
Y892C |
probably damaging |
Het |
| Vmn2r2 |
T |
G |
3: 64,042,118 (GRCm39) |
D199A |
probably damaging |
Het |
| Washc2 |
C |
A |
6: 116,185,202 (GRCm39) |
P12Q |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,896 (GRCm39) |
I121V |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,267 (GRCm39) |
|
probably null |
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 |
|
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'- ATGGATGATGCGCGTTTCCG -3'
(R):5'- CCCTTACCGTGATTCCAAGATC -3'
Sequencing Primer
(F):5'- CGTTTCCGAGCGGTGTC -3'
(R):5'- TGATTCCAAGATCACCCGGTGAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation