Incidental Mutation 'R4543:Kif7'
| ID |
333624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif7
|
| Ensembl Gene |
ENSMUSG00000050382 |
| Gene Name |
kinesin family member 7 |
| Synonyms |
|
| MMRRC Submission |
041778-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4543 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79347846-79365468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79357296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 637
(P637S)
|
| 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 benign
Transcript: ENSMUST00000059836
AA Change: P637S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382
AA Change: P637S
| 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: P637S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382
AA Change: P637S
| 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: P637S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382
AA Change: P637S
| 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: P637S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382
AA Change: P637S
| 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 |
0.0596 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
94% (44/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,789,749 (GRCm39) |
S500T |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,706,672 (GRCm39) |
D2G |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,065,874 (GRCm39) |
R366H |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,713,874 (GRCm39) |
H186Q |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,812,572 (GRCm39) |
A579E |
probably damaging |
Het |
| Ap2b1 |
C |
A |
11: 83,215,476 (GRCm39) |
T140K |
probably damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,508 (GRCm39) |
E158D |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,199,986 (GRCm39) |
F885L |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,758,092 (GRCm39) |
L282S |
unknown |
Het |
| Catsper2 |
C |
T |
2: 121,237,890 (GRCm39) |
W163* |
probably null |
Het |
| Cep295 |
T |
C |
9: 15,246,549 (GRCm39) |
T588A |
possibly damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,452,749 (GRCm39) |
Q578L |
probably damaging |
Het |
| Crp |
A |
C |
1: 172,526,304 (GRCm39) |
I130L |
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,857,175 (GRCm39) |
|
probably null |
Het |
| Fads3 |
T |
C |
19: 10,019,175 (GRCm39) |
F27S |
possibly damaging |
Het |
| Gm3604 |
T |
C |
13: 62,517,970 (GRCm39) |
D109G |
probably benign |
Het |
| Gtf2ird1 |
A |
G |
5: 134,392,754 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
C |
T |
17: 34,218,532 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,104,770 (GRCm39) |
|
probably benign |
Het |
| Il6st |
G |
A |
13: 112,617,993 (GRCm39) |
V136M |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,828,762 (GRCm39) |
S106P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,960,168 (GRCm39) |
I492T |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,715 (GRCm39) |
F97S |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,248,997 (GRCm39) |
I84V |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,604,851 (GRCm39) |
I109K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,998,929 (GRCm39) |
C619S |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,317,531 (GRCm39) |
M101K |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,841 (GRCm39) |
S274P |
possibly damaging |
Het |
| Polq |
T |
C |
16: 36,881,147 (GRCm39) |
C1104R |
probably benign |
Het |
| Rbfox2 |
A |
T |
15: 77,190,568 (GRCm39) |
M59K |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,383,290 (GRCm39) |
V110A |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,685 (GRCm39) |
V180D |
probably damaging |
Het |
| Sox21 |
CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC |
CCAGCGGCGGCGGCGGCAGCGGC |
14: 118,472,548 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
C |
T |
17: 56,304,604 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,582,041 (GRCm39) |
T419A |
probably benign |
Het |
| Tmprss11a |
G |
A |
5: 86,559,668 (GRCm39) |
Q375* |
probably null |
Het |
| Trav12-3 |
CTCTG |
CTCTGTCTG |
14: 53,859,693 (GRCm39) |
|
probably null |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,907 (GRCm39) |
S88T |
possibly damaging |
Het |
| Zfp622 |
T |
A |
15: 25,991,623 (GRCm39) |
D143E |
possibly 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 |
|
|
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'- CTGAAACCTTCCCATCTGGACG -3'
(R):5'- CACACTTCAGGCTCAGAGGATG -3'
Sequencing Primer
(F):5'- ATCTGGACGGAGCTCACAGAC -3'
(R):5'- GATGCCCTGCGTGCATTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation