Incidental Mutation 'R8796:Kif5b'
| ID |
671286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif5b
|
| Ensembl Gene |
ENSMUSG00000006740 |
| Gene Name |
kinesin family member 5B |
| Synonyms |
kinesin heavy chain, Khc |
| MMRRC Submission |
068637-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
6201005-6241524 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6226965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 98
(K98E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025083]
[ENSMUST00000163210]
|
| AlphaFold |
Q61768 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025083
AA Change: K98E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000025083
Gene: ENSMUSG00000006740
AA Change: K98E
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
6 |
333 |
4.48e-172 |
SMART |
|
low complexity region
|
341 |
352 |
N/A |
INTRINSIC |
|
coiled coil region
|
412 |
564 |
N/A |
INTRINSIC |
|
coiled coil region
|
596 |
802 |
N/A |
INTRINSIC |
|
coiled coil region
|
825 |
914 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163210
AA Change: K98E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000130750
Gene: ENSMUSG00000006740
AA Change: K98E
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
6 |
333 |
4.48e-172 |
SMART |
|
low complexity region
|
341 |
352 |
N/A |
INTRINSIC |
|
coiled coil region
|
412 |
564 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos during organogenesis, exhibit growth retardation and fail to turn during gastrulation. [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 |
|---|
| 4921524L21Rik |
A |
T |
18: 6,629,482 (GRCm39) |
T182S |
possibly damaging |
Het |
| Abca12 |
A |
C |
1: 71,297,248 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
A |
4: 40,179,037 (GRCm39) |
D345E |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,066,509 (GRCm39) |
V9A |
probably benign |
Het |
| Akap1 |
A |
C |
11: 88,730,498 (GRCm39) |
I597S |
probably damaging |
Het |
| B4galnt4 |
C |
T |
7: 140,647,488 (GRCm39) |
T385I |
probably damaging |
Het |
| Bbof1 |
A |
T |
12: 84,460,068 (GRCm39) |
T112S |
possibly damaging |
Het |
| Chd7 |
C |
A |
4: 8,838,691 (GRCm39) |
H1297N |
probably damaging |
Het |
| Cldn15 |
T |
C |
5: 137,003,351 (GRCm39) |
F147L |
probably damaging |
Het |
| Coq7 |
C |
T |
7: 118,126,640 (GRCm39) |
E143K |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,498 (GRCm39) |
N430S |
probably damaging |
Het |
| Cxcl12 |
G |
T |
6: 117,155,553 (GRCm39) |
K92N |
possibly damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,359,026 (GRCm39) |
F95S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,255,850 (GRCm39) |
H480L |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,165,320 (GRCm39) |
C14Y |
probably damaging |
Het |
| Gja5 |
A |
G |
3: 96,958,419 (GRCm39) |
I159V |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 55,785,123 (GRCm39) |
Q1487L |
probably benign |
Het |
| Hipk2 |
T |
A |
6: 38,675,158 (GRCm39) |
Q1168L |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,054,020 (GRCm39) |
Y214F |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,117,146 (GRCm39) |
N2480K |
|
Het |
| Lrp1b |
A |
G |
2: 40,793,426 (GRCm39) |
C2610R |
|
Het |
| Mast4 |
T |
C |
13: 102,919,899 (GRCm39) |
Y536C |
probably benign |
Het |
| Ntrk1 |
A |
G |
3: 87,690,422 (GRCm39) |
S407P |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,297,129 (GRCm39) |
M527K |
possibly damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,201 (GRCm39) |
V182A |
|
Het |
| Or5m9b |
G |
A |
2: 85,905,518 (GRCm39) |
V145M |
possibly damaging |
Het |
| Plxdc1 |
A |
G |
11: 97,847,407 (GRCm39) |
S89P |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,860,017 (GRCm39) |
I1091T |
probably benign |
Het |
| Psg16 |
C |
A |
7: 16,827,814 (GRCm39) |
H166N |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,234,345 (GRCm39) |
Y332F |
probably damaging |
Het |
| Rab31 |
A |
T |
17: 66,079,529 (GRCm39) |
I4K |
possibly damaging |
Het |
| Ranbp10 |
C |
A |
8: 106,499,665 (GRCm39) |
|
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,038,685 (GRCm39) |
S453G |
|
Het |
| Rxfp2 |
C |
T |
5: 149,942,262 (GRCm39) |
|
probably benign |
Het |
| S100a8 |
A |
G |
3: 90,576,865 (GRCm39) |
E6G |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,438,376 (GRCm39) |
K94E |
probably damaging |
Het |
| Sema4d |
A |
T |
13: 51,865,546 (GRCm39) |
F297I |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,848,723 (GRCm39) |
K287E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,411,123 (GRCm39) |
T868S |
probably benign |
Het |
| Skint6 |
G |
T |
4: 112,661,891 (GRCm39) |
T1231K |
possibly damaging |
Het |
| Slc35b3 |
C |
T |
13: 39,121,722 (GRCm39) |
|
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,784 (GRCm39) |
M634K |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,460,190 (GRCm39) |
D1424G |
probably benign |
Het |
| Snx21 |
G |
A |
2: 164,628,749 (GRCm39) |
V131I |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,945,848 (GRCm39) |
V516A |
probably benign |
Het |
| Tas2r120 |
A |
T |
6: 132,634,081 (GRCm39) |
R54S |
probably damaging |
Het |
| Tmem109 |
A |
T |
19: 10,849,995 (GRCm39) |
L99Q |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,946,485 (GRCm39) |
S309P |
possibly damaging |
Het |
| Trav11 |
C |
T |
14: 53,757,227 (GRCm39) |
A85V |
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,480,434 (GRCm39) |
R267H |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,653,314 (GRCm39) |
R12631C |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,917 (GRCm39) |
T678S |
possibly damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,282,933 (GRCm39) |
M209T |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,757,500 (GRCm39) |
M123L |
probably benign |
Het |
| Wdr41 |
T |
G |
13: 95,151,575 (GRCm39) |
L245R |
possibly damaging |
Het |
| Wwp2 |
G |
T |
8: 108,283,189 (GRCm39) |
G814W |
probably null |
Het |
|
| Other mutations in Kif5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00787:Kif5b
|
APN |
18 |
6,226,973 (GRCm39) |
splice site |
probably benign |
|
|
IGL01697:Kif5b
|
APN |
18 |
6,226,871 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01759:Kif5b
|
APN |
18 |
6,211,019 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01759:Kif5b
|
APN |
18 |
6,225,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02027:Kif5b
|
APN |
18 |
6,209,089 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02553:Kif5b
|
APN |
18 |
6,220,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03327:Kif5b
|
APN |
18 |
6,222,767 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03346:Kif5b
|
APN |
18 |
6,222,767 (GRCm39) |
missense |
probably damaging |
0.96 |
|
e-enhancer
|
UTSW |
18 |
6,213,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0440:Kif5b
|
UTSW |
18 |
6,226,980 (GRCm39) |
splice site |
probably benign |
|
|
R0743:Kif5b
|
UTSW |
18 |
6,209,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Kif5b
|
UTSW |
18 |
6,214,044 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1386:Kif5b
|
UTSW |
18 |
6,226,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1720:Kif5b
|
UTSW |
18 |
6,213,427 (GRCm39) |
missense |
probably benign |
|
|
R1964:Kif5b
|
UTSW |
18 |
6,209,059 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2061:Kif5b
|
UTSW |
18 |
6,226,377 (GRCm39) |
splice site |
probably null |
|
|
R2091:Kif5b
|
UTSW |
18 |
6,213,248 (GRCm39) |
nonsense |
probably null |
|
|
R4510:Kif5b
|
UTSW |
18 |
6,214,011 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4511:Kif5b
|
UTSW |
18 |
6,214,011 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4515:Kif5b
|
UTSW |
18 |
6,208,257 (GRCm39) |
missense |
probably benign |
|
|
R4517:Kif5b
|
UTSW |
18 |
6,213,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4690:Kif5b
|
UTSW |
18 |
6,216,759 (GRCm39) |
missense |
probably benign |
|
|
R4838:Kif5b
|
UTSW |
18 |
6,216,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Kif5b
|
UTSW |
18 |
6,222,912 (GRCm39) |
intron |
probably benign |
|
|
R4906:Kif5b
|
UTSW |
18 |
6,220,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5260:Kif5b
|
UTSW |
18 |
6,211,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5290:Kif5b
|
UTSW |
18 |
6,234,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5517:Kif5b
|
UTSW |
18 |
6,220,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5588:Kif5b
|
UTSW |
18 |
6,225,787 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5621:Kif5b
|
UTSW |
18 |
6,226,883 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6269:Kif5b
|
UTSW |
18 |
6,223,558 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6377:Kif5b
|
UTSW |
18 |
6,212,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6955:Kif5b
|
UTSW |
18 |
6,211,070 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7256:Kif5b
|
UTSW |
18 |
6,225,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7536:Kif5b
|
UTSW |
18 |
6,216,235 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7892:Kif5b
|
UTSW |
18 |
6,212,517 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7962:Kif5b
|
UTSW |
18 |
6,241,040 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8238:Kif5b
|
UTSW |
18 |
6,227,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Kif5b
|
UTSW |
18 |
6,213,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8464:Kif5b
|
UTSW |
18 |
6,225,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8670:Kif5b
|
UTSW |
18 |
6,214,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8691:Kif5b
|
UTSW |
18 |
6,225,787 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8897:Kif5b
|
UTSW |
18 |
6,225,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Kif5b
|
UTSW |
18 |
6,209,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9003:Kif5b
|
UTSW |
18 |
6,224,047 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9015:Kif5b
|
UTSW |
18 |
6,216,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9047:Kif5b
|
UTSW |
18 |
6,208,261 (GRCm39) |
missense |
probably benign |
|
|
R9369:Kif5b
|
UTSW |
18 |
6,223,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9622:Kif5b
|
UTSW |
18 |
6,225,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGAAGCAGCTATTTTGG -3'
(R):5'- AGTGATTGTCTCCTGAATATCTGC -3'
Sequencing Primer
(F):5'- GCAGCTATTTTGGAAAATAAGTATCC -3'
(R):5'- AGATTGTCTATATCAGCCAGGGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation