Incidental Mutation 'R4392:Gm21738'
| ID |
371115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm21738
|
| Ensembl Gene |
ENSMUSG00000095280 |
| Gene Name |
predicted gene, 21738 |
| Synonyms |
|
| MMRRC Submission |
041127-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
R4392 (G1)
|
| Quality Score |
30 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
(GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 19417178 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 117
(L117V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177817]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177817
AA Change: L117V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137127
Gene: ENSMUSG00000095280
AA Change: L117V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
19 |
1.11e-9 |
PROSPERO |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
135 |
1.11e-9 |
PROSPERO |
|
transmembrane domain
|
152 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
195 |
N/A |
INTRINSIC |
|
transmembrane domain
|
198 |
220 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
95% (69/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
C |
T |
14: 54,822,435 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
C |
11: 9,259,034 (GRCm39) |
K2920T |
possibly damaging |
Het |
| Amy2b |
T |
G |
3: 113,056,724 (GRCm39) |
|
noncoding transcript |
Het |
| Anapc1 |
T |
C |
2: 128,518,169 (GRCm39) |
|
probably null |
Het |
| Bmp7 |
T |
G |
2: 172,758,335 (GRCm39) |
D178A |
probably benign |
Het |
| Brsk1 |
T |
A |
7: 4,701,749 (GRCm39) |
I170N |
probably damaging |
Het |
| Bub3 |
C |
T |
7: 131,168,064 (GRCm39) |
A187V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,277,479 (GRCm39) |
H71R |
possibly damaging |
Het |
| Cdrt4 |
A |
T |
11: 62,842,179 (GRCm39) |
K20N |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,330,427 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,569,770 (GRCm39) |
Y1600F |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,700 (GRCm39) |
I57N |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,059,917 (GRCm39) |
L223P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,289,375 (GRCm39) |
R1188H |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,385,196 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
| Eif4b |
T |
A |
15: 101,995,076 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
A |
G |
11: 30,893,697 (GRCm39) |
|
probably null |
Het |
| Esp24 |
T |
C |
17: 39,350,968 (GRCm39) |
|
probably benign |
Het |
| Esp34 |
T |
C |
17: 38,870,382 (GRCm39) |
V24A |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
| Foxc2 |
T |
C |
8: 121,844,191 (GRCm39) |
S280P |
probably damaging |
Het |
| Grk3 |
A |
G |
5: 113,068,002 (GRCm39) |
F467S |
probably damaging |
Het |
| Grwd1 |
C |
T |
7: 45,477,204 (GRCm39) |
G228S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,289,483 (GRCm39) |
E399G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Ift56 |
A |
G |
6: 38,358,492 (GRCm39) |
|
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,585,880 (GRCm39) |
Y83H |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,069,630 (GRCm39) |
T413A |
probably damaging |
Het |
| Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
| Mmrn2 |
T |
A |
14: 34,119,573 (GRCm39) |
L184H |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,187,311 (GRCm39) |
R133C |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,707 (GRCm39) |
|
probably null |
Het |
| Nkain3 |
C |
A |
4: 20,282,985 (GRCm39) |
R116L |
possibly damaging |
Het |
| Nxph2 |
A |
C |
2: 23,290,284 (GRCm39) |
Q212P |
probably damaging |
Het |
| Or4f7d-ps1 |
T |
C |
2: 111,674,690 (GRCm39) |
|
noncoding transcript |
Het |
| Or4k15c |
A |
G |
14: 50,322,060 (GRCm39) |
F26S |
probably benign |
Het |
| Otog |
T |
C |
7: 45,934,548 (GRCm39) |
Y1369H |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,248,334 (GRCm39) |
I131V |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,142,467 (GRCm38) |
I373F |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,670,490 (GRCm39) |
C25S |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,189,655 (GRCm39) |
T678A |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,765,399 (GRCm39) |
E557V |
probably damaging |
Het |
| Scube3 |
C |
T |
17: 28,383,762 (GRCm39) |
P511L |
probably null |
Het |
| Sgpl1 |
A |
G |
10: 60,940,231 (GRCm39) |
|
probably benign |
Het |
| Slc10a1 |
C |
A |
12: 81,014,578 (GRCm39) |
E47D |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,117,896 (GRCm39) |
N369S |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,710,198 (GRCm39) |
T344A |
probably benign |
Het |
| Tgm4 |
C |
T |
9: 122,895,817 (GRCm39) |
T631I |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,821,326 (GRCm39) |
Y457H |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,637,429 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,690,458 (GRCm39) |
W207R |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Usp2 |
A |
T |
9: 44,002,556 (GRCm39) |
H384L |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,207,135 (GRCm39) |
V169I |
probably benign |
Het |
| Vopp1 |
A |
C |
6: 57,739,461 (GRCm39) |
F29C |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,741,860 (GRCm39) |
D953G |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,707 (GRCm39) |
C419* |
probably null |
Het |
|
| Other mutations in Gm21738 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Gm21738
|
APN |
14 |
19,418,885 (GRCm38) |
missense |
probably benign |
|
|
IGL01010:Gm21738
|
APN |
14 |
19,417,361 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01018:Gm21738
|
APN |
14 |
19,418,856 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL01865:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01869:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01873:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01877:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01878:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01879:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01880:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01882:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01883:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01884:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01885:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01886:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01888:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01891:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01892:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01893:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01894:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01895:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01896:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01898:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01899:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01900:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01901:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01902:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01903:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01904:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01905:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01906:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01908:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01909:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01910:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01911:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01912:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01913:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01914:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01915:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01916:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01917:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01918:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01919:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01922:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01923:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01924:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01925:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01926:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01932:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01940:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01949:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4131001:Gm21738
|
UTSW |
14 |
19,417,330 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4142001:Gm21738
|
UTSW |
14 |
19,417,330 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0831:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R0831:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0976:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R1029:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1146:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R1231:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R1231:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1402:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R1402:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1638:Gm21738
|
UTSW |
14 |
19,418,908 (GRCm38) |
missense |
probably benign |
|
|
R1874:Gm21738
|
UTSW |
14 |
19,418,824 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R4393:Gm21738
|
UTSW |
14 |
19,417,178 (GRCm38) |
missense |
probably benign |
|
|
R5049:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5257:Gm21738
|
UTSW |
14 |
19,415,942 (GRCm38) |
missense |
probably benign |
|
|
R6756:Gm21738
|
UTSW |
14 |
19,418,824 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6915:Gm21738
|
UTSW |
14 |
19,415,933 (GRCm38) |
missense |
probably benign |
|
|
V5622:Gm21738
|
UTSW |
14 |
19,417,180 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTTCCACTGTAGGACATGGAA -3'
(R):5'- CCTACAGTGTGCATTTCTCATTT -3'
Sequencing Primer
(F):5'- TCCACTGTAGGACATGGAATATAGC -3'
(R):5'- GCCATATTCCAGGTCCTACAGTGTG -3'
|
| Posted On |
2016-02-19 |
Incidental Mutation