Incidental Mutation 'R5152:Kit'
| ID |
452793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kit
|
| Ensembl Gene |
ENSMUSG00000005672 |
| Gene Name |
KIT proto-oncogene receptor tyrosine kinase |
| Synonyms |
Gsfsco1, CD117, SCO1, Gsfsow3, belly-spot, SCO5, SOW3, Tr-kit, c-KIT, Steel Factor Receptor, Gsfsco5, Dominant white spotting |
| MMRRC Submission |
042734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R5152 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
75735647-75817382 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75781507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 312
(E312G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005815]
[ENSMUST00000144270]
|
| AlphaFold |
P05532 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005815
AA Change: E312G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: E312G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
IG
|
43 |
113 |
3.02e0 |
SMART |
|
IG_like
|
122 |
206 |
1.09e2 |
SMART |
|
IGc2
|
225 |
300 |
3.79e-4 |
SMART |
|
IG
|
323 |
413 |
1.21e-2 |
SMART |
|
IG_like
|
429 |
501 |
1.88e0 |
SMART |
|
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
TyrKc
|
592 |
926 |
2.5e-138 |
SMART |
|
low complexity region
|
945 |
963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144270
AA Change: E312G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: E312G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
IG
|
55 |
125 |
3.02e0 |
SMART |
|
IG_like
|
134 |
218 |
1.09e2 |
SMART |
|
IGc2
|
237 |
312 |
3.79e-4 |
SMART |
|
IG
|
335 |
425 |
1.21e-2 |
SMART |
|
IG_like
|
441 |
513 |
1.88e0 |
SMART |
|
transmembrane domain
|
532 |
554 |
N/A |
INTRINSIC |
|
TyrKc
|
600 |
934 |
2.5e-138 |
SMART |
|
low complexity region
|
953 |
971 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
99% (83/84) |
| MGI Phenotype |
FUNCTION: The c-Kit proto-oncogene is the cellular homolog of the transforming gene of a feline retrovirus (v-Kit). The c-kit protein includes characteristics of a protein kinase transmembrane receptor. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hematopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,139,846 (GRCm39) |
S1503P |
probably benign |
Het |
| Actn3 |
C |
A |
19: 4,913,572 (GRCm39) |
V620F |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,223,752 (GRCm39) |
K252E |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,736,373 (GRCm39) |
Y509C |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,536,875 (GRCm39) |
|
probably null |
Het |
| Bod1l |
T |
C |
5: 41,973,886 (GRCm39) |
E2476G |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,331,811 (GRCm39) |
|
probably benign |
Het |
| Catsperz |
T |
C |
19: 6,900,705 (GRCm39) |
T147A |
probably benign |
Het |
| Cc2d1b |
C |
A |
4: 108,483,283 (GRCm39) |
A289E |
probably benign |
Het |
| Ccdc170 |
A |
C |
10: 4,511,107 (GRCm39) |
H722P |
probably damaging |
Het |
| Cdk13 |
C |
A |
13: 17,893,110 (GRCm39) |
A1358S |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,546,074 (GRCm39) |
|
probably benign |
Het |
| Coch |
A |
G |
12: 51,642,225 (GRCm39) |
N66D |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,564,030 (GRCm39) |
S1732P |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,945,628 (GRCm39) |
V917E |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,445,828 (GRCm39) |
N3299K |
probably benign |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,132 (GRCm39) |
F233I |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,434 (GRCm39) |
H126L |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,806,843 (GRCm39) |
L492P |
probably damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
| Enpp5 |
C |
T |
17: 44,392,024 (GRCm39) |
P151L |
probably damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,397,327 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Flg2 |
C |
A |
3: 93,122,284 (GRCm39) |
P1485T |
unknown |
Het |
| Fmo5 |
A |
G |
3: 97,549,078 (GRCm39) |
Y242C |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,808,916 (GRCm39) |
T1745N |
probably benign |
Het |
| Gata4 |
T |
A |
14: 63,478,570 (GRCm39) |
N10Y |
probably damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm4787 |
A |
C |
12: 81,425,451 (GRCm39) |
S236A |
probably benign |
Het |
| Golga7 |
A |
C |
8: 23,735,965 (GRCm39) |
S94A |
probably benign |
Het |
| Gpbp1 |
A |
G |
13: 111,589,815 (GRCm39) |
|
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,619 (GRCm39) |
Y222H |
probably benign |
Het |
| Gstcd |
A |
G |
3: 132,790,717 (GRCm39) |
Y17H |
possibly damaging |
Het |
| Hephl1 |
C |
A |
9: 14,991,481 (GRCm39) |
D586Y |
probably damaging |
Het |
| Hpn |
C |
A |
7: 30,799,261 (GRCm39) |
V35L |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,400,725 (GRCm39) |
N535I |
probably damaging |
Het |
| Inpp4a |
T |
C |
1: 37,397,616 (GRCm39) |
I45T |
possibly damaging |
Het |
| Itgae |
G |
C |
11: 73,021,821 (GRCm39) |
G901R |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,530,103 (GRCm39) |
D686G |
probably damaging |
Het |
| Lamb2 |
C |
A |
9: 108,364,937 (GRCm39) |
S1230R |
probably benign |
Het |
| Lars1 |
A |
T |
18: 42,361,842 (GRCm39) |
D588E |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,830,948 (GRCm39) |
F292I |
probably damaging |
Het |
| Lmf1 |
C |
T |
17: 25,874,493 (GRCm39) |
S458L |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,552,154 (GRCm39) |
C787S |
probably damaging |
Het |
| Ms4a4a |
A |
C |
19: 11,365,676 (GRCm39) |
I138L |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,940,984 (GRCm39) |
F295I |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,577,432 (GRCm39) |
K241* |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,419,268 (GRCm39) |
F4017S |
possibly damaging |
Het |
| Nfkbil1 |
T |
C |
17: 35,440,384 (GRCm39) |
|
probably benign |
Het |
| Or10d5j |
T |
C |
9: 39,868,202 (GRCm39) |
T22A |
probably benign |
Het |
| Or4x6 |
A |
G |
2: 89,949,465 (GRCm39) |
L159P |
probably damaging |
Het |
| Or8g21 |
A |
T |
9: 38,906,473 (GRCm39) |
V86E |
possibly damaging |
Het |
| Osgep |
T |
C |
14: 51,155,315 (GRCm39) |
D81G |
probably damaging |
Het |
| Otos |
A |
G |
1: 92,572,116 (GRCm39) |
F70S |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,179 (GRCm39) |
V384D |
probably damaging |
Het |
| Ppp1r10 |
C |
T |
17: 36,240,144 (GRCm39) |
P514S |
probably damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,830 (GRCm39) |
P37L |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,430,559 (GRCm39) |
Y309H |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,661,962 (GRCm39) |
D382E |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,153,627 (GRCm39) |
F2226L |
probably damaging |
Het |
| Rmi2 |
C |
T |
16: 10,657,765 (GRCm39) |
T125M |
probably damaging |
Het |
| Setd1a |
C |
T |
7: 127,383,197 (GRCm39) |
T231I |
probably benign |
Het |
| Sftpa1 |
G |
A |
14: 40,856,309 (GRCm39) |
G218D |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,786,138 (GRCm39) |
F655I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,585,861 (GRCm39) |
I319V |
possibly damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,239,581 (GRCm39) |
P19S |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,183,409 (GRCm39) |
T317I |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,404,742 (GRCm39) |
P2845S |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 123,029,550 (GRCm39) |
|
probably null |
Het |
| Tdpoz9 |
T |
C |
3: 93,957,451 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,013,191 (GRCm39) |
S644T |
probably damaging |
Het |
| Tmem182 |
T |
A |
1: 40,877,460 (GRCm39) |
Y112N |
probably damaging |
Het |
| Usp45 |
T |
A |
4: 21,824,815 (GRCm39) |
N522K |
probably benign |
Het |
| Vnn3 |
A |
T |
10: 23,740,237 (GRCm39) |
Y180F |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
| Xrn1 |
A |
T |
9: 95,846,118 (GRCm39) |
D57V |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,486,357 (GRCm39) |
V344A |
probably benign |
Het |
|
| Other mutations in Kit |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00466:Kit
|
APN |
5 |
75,771,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00834:Kit
|
APN |
5 |
75,806,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00846:Kit
|
APN |
5 |
75,801,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01149:Kit
|
APN |
5 |
75,771,536 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01341:Kit
|
APN |
5 |
75,767,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02004:Kit
|
APN |
5 |
75,781,674 (GRCm39) |
missense |
probably benign |
|
|
IGL02281:Kit
|
APN |
5 |
75,815,194 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02424:Kit
|
APN |
5 |
75,799,766 (GRCm39) |
missense |
probably benign |
|
|
IGL02697:Kit
|
APN |
5 |
75,767,919 (GRCm39) |
missense |
probably benign |
|
|
IGL02929:Kit
|
APN |
5 |
75,801,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:Kit
|
APN |
5 |
75,771,574 (GRCm39) |
missense |
probably benign |
|
|
IGL03127:Kit
|
APN |
5 |
75,801,848 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03174:Kit
|
APN |
5 |
75,767,773 (GRCm39) |
missense |
probably benign |
|
|
IGL03381:Kit
|
APN |
5 |
75,767,788 (GRCm39) |
missense |
probably benign |
0.04 |
|
casper
|
UTSW |
5 |
75,806,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Mooyah2
|
UTSW |
5 |
75,813,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pretty2
|
UTSW |
5 |
75,810,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
slimmer
|
UTSW |
5 |
75,801,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02837:Kit
|
UTSW |
5 |
75,799,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0022:Kit
|
UTSW |
5 |
75,783,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0022:Kit
|
UTSW |
5 |
75,783,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0092:Kit
|
UTSW |
5 |
75,808,414 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0254:Kit
|
UTSW |
5 |
75,781,581 (GRCm39) |
missense |
probably benign |
|
|
R0329:Kit
|
UTSW |
5 |
75,813,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Kit
|
UTSW |
5 |
75,771,539 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1068:Kit
|
UTSW |
5 |
75,770,178 (GRCm39) |
missense |
probably benign |
|
|
R1115:Kit
|
UTSW |
5 |
75,810,192 (GRCm39) |
splice site |
probably benign |
|
|
R1480:Kit
|
UTSW |
5 |
75,797,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1639:Kit
|
UTSW |
5 |
75,813,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Kit
|
UTSW |
5 |
75,809,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1973:Kit
|
UTSW |
5 |
75,776,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Kit
|
UTSW |
5 |
75,797,977 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3125:Kit
|
UTSW |
5 |
75,808,488 (GRCm39) |
missense |
probably null |
0.00 |
|
R3125:Kit
|
UTSW |
5 |
75,808,487 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3437:Kit
|
UTSW |
5 |
75,806,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3791:Kit
|
UTSW |
5 |
75,799,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3939:Kit
|
UTSW |
5 |
75,769,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3940:Kit
|
UTSW |
5 |
75,769,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3941:Kit
|
UTSW |
5 |
75,769,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3942:Kit
|
UTSW |
5 |
75,769,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4092:Kit
|
UTSW |
5 |
75,771,470 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4376:Kit
|
UTSW |
5 |
75,801,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4377:Kit
|
UTSW |
5 |
75,801,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4668:Kit
|
UTSW |
5 |
75,801,880 (GRCm39) |
splice site |
probably null |
|
|
R5104:Kit
|
UTSW |
5 |
75,776,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5154:Kit
|
UTSW |
5 |
75,801,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5508:Kit
|
UTSW |
5 |
75,810,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Kit
|
UTSW |
5 |
75,770,054 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5731:Kit
|
UTSW |
5 |
75,815,075 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6270:Kit
|
UTSW |
5 |
75,770,169 (GRCm39) |
missense |
probably benign |
|
|
R6565:Kit
|
UTSW |
5 |
75,806,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6694:Kit
|
UTSW |
5 |
75,801,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6805:Kit
|
UTSW |
5 |
75,813,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Kit
|
UTSW |
5 |
75,813,309 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6848:Kit
|
UTSW |
5 |
75,767,872 (GRCm39) |
missense |
probably benign |
|
|
R7021:Kit
|
UTSW |
5 |
75,781,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7080:Kit
|
UTSW |
5 |
75,767,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7117:Kit
|
UTSW |
5 |
75,767,758 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7156:Kit
|
UTSW |
5 |
75,776,034 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7379:Kit
|
UTSW |
5 |
75,808,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7427:Kit
|
UTSW |
5 |
75,806,507 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7438:Kit
|
UTSW |
5 |
75,799,660 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7531:Kit
|
UTSW |
5 |
75,767,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7711:Kit
|
UTSW |
5 |
75,798,019 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7810:Kit
|
UTSW |
5 |
75,769,982 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7819:Kit
|
UTSW |
5 |
75,806,592 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8021:Kit
|
UTSW |
5 |
75,776,151 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8139:Kit
|
UTSW |
5 |
75,813,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8165:Kit
|
UTSW |
5 |
75,781,540 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8249:Kit
|
UTSW |
5 |
75,802,068 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8288:Kit
|
UTSW |
5 |
75,815,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Kit
|
UTSW |
5 |
75,801,829 (GRCm39) |
missense |
probably benign |
|
|
R8829:Kit
|
UTSW |
5 |
75,799,791 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8832:Kit
|
UTSW |
5 |
75,799,791 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8969:Kit
|
UTSW |
5 |
75,799,722 (GRCm39) |
missense |
|
|
|
R9081:Kit
|
UTSW |
5 |
75,801,218 (GRCm39) |
missense |
probably benign |
|
|
R9146:Kit
|
UTSW |
5 |
75,810,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9232:Kit
|
UTSW |
5 |
75,799,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9631:Kit
|
UTSW |
5 |
75,767,689 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
U24488:Kit
|
UTSW |
5 |
75,783,674 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATACATCCGGGGCTCAGTG -3'
(R):5'- GATGTCCTTCCTCAATGTGGCATC -3'
Sequencing Primer
(F):5'- AGTGTGTGCCCTGCCTCAC -3'
(R):5'- GGGCACAGGTCCCCTTCTTAC -3'
|
| Posted On |
2017-01-06 |
Incidental Mutation