Incidental Mutation 'R8242:Gm5591'
| ID |
637605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5591
|
| Ensembl Gene |
ENSMUSG00000060565 |
| Gene Name |
predicted gene 5591 |
| Synonyms |
|
| MMRRC Submission |
067647-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
R8242 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
38217563-38227617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38219746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 376
(T376S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079759]
|
| AlphaFold |
Q8CDK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079759
AA Change: T376S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: T376S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
Pfam:DUF4629
|
437 |
582 |
1.2e-59 |
PFAM |
|
low complexity region
|
648 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
723 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.2%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,374,118 (GRCm39) |
Y736H |
possibly damaging |
Het |
| Akr1c12 |
G |
A |
13: 4,322,269 (GRCm39) |
R258* |
probably null |
Het |
| Ankfn1 |
C |
G |
11: 89,417,271 (GRCm39) |
|
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,505,824 (GRCm39) |
K947E |
probably benign |
Het |
| Barx2 |
C |
A |
9: 31,824,227 (GRCm39) |
R54L |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcl11a |
T |
A |
11: 24,113,208 (GRCm39) |
F184I |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,411,914 (GRCm39) |
D515E |
possibly damaging |
Het |
| Cfap43 |
A |
G |
19: 47,885,808 (GRCm39) |
L269P |
probably damaging |
Het |
| Col8a1 |
G |
T |
16: 57,452,721 (GRCm39) |
P94Q |
possibly damaging |
Het |
| Coq5 |
T |
C |
5: 115,417,806 (GRCm39) |
V12A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,760,670 (GRCm39) |
V155A |
probably benign |
Het |
| Defb22 |
A |
C |
2: 152,328,007 (GRCm39) |
C59W |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,669,980 (GRCm39) |
T665A |
possibly damaging |
Het |
| Gm10542 |
A |
G |
18: 44,337,708 (GRCm39) |
D62G |
possibly damaging |
Het |
| Gm45861 |
G |
A |
8: 28,038,821 (GRCm39) |
S987N |
unknown |
Het |
| Hps3 |
C |
T |
3: 20,068,290 (GRCm39) |
R588H |
possibly damaging |
Het |
| Itpr1 |
A |
T |
6: 108,363,658 (GRCm39) |
D760V |
probably benign |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,938,522 (GRCm39) |
R270S |
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,488,157 (GRCm39) |
H350N |
possibly damaging |
Het |
| Nsd3 |
G |
T |
8: 26,196,567 (GRCm39) |
E1183* |
probably null |
Het |
| Or13a19 |
T |
A |
7: 139,902,696 (GRCm39) |
L28* |
probably null |
Het |
| Or4p7 |
A |
G |
2: 88,222,418 (GRCm39) |
I276V |
possibly damaging |
Het |
| Or51f23b |
T |
C |
7: 102,402,306 (GRCm39) |
M277V |
probably benign |
Het |
| Or8k53 |
A |
T |
2: 86,177,426 (GRCm39) |
M228K |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,060,184 (GRCm39) |
T196S |
probably benign |
Het |
| Phlpp2 |
T |
C |
8: 110,666,834 (GRCm39) |
V1121A |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,954,050 (GRCm39) |
S41T |
probably benign |
Het |
| Rad51c |
A |
T |
11: 87,280,712 (GRCm39) |
N293K |
probably damaging |
Het |
| Rgs3 |
C |
A |
4: 62,538,022 (GRCm39) |
Q18K |
probably benign |
Het |
| Ripk2 |
C |
T |
4: 16,124,430 (GRCm39) |
G426D |
probably benign |
Het |
| Rpl22l1 |
T |
C |
3: 28,860,914 (GRCm39) |
V44A |
possibly damaging |
Het |
| Sntb1 |
C |
T |
15: 55,655,629 (GRCm39) |
A196T |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,821 (GRCm39) |
E409G |
probably damaging |
Het |
| Timm50 |
A |
T |
7: 28,007,836 (GRCm39) |
D105E |
probably benign |
Het |
| Tsga10 |
A |
T |
1: 37,846,182 (GRCm39) |
S315T |
probably benign |
Het |
| Ttpa |
G |
A |
4: 20,028,511 (GRCm39) |
C256Y |
probably damaging |
Het |
| Vinac1 |
G |
T |
2: 128,881,313 (GRCm39) |
C204* |
probably null |
Het |
| Vmn2r13 |
T |
C |
5: 109,322,872 (GRCm39) |
Y139C |
possibly damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,971 (GRCm39) |
S803P |
probably damaging |
Het |
| Zfp985 |
A |
C |
4: 147,668,639 (GRCm39) |
K502N |
possibly damaging |
Het |
|
| Other mutations in Gm5591 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Gm5591
|
APN |
7 |
38,219,838 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02277:Gm5591
|
APN |
7 |
38,218,462 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02277:Gm5591
|
APN |
7 |
38,219,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02503:Gm5591
|
APN |
7 |
38,219,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Gm5591
|
APN |
7 |
38,219,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02899:Gm5591
|
APN |
7 |
38,218,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Gm5591
|
UTSW |
7 |
38,219,794 (GRCm39) |
missense |
probably benign |
|
|
R2365:Gm5591
|
UTSW |
7 |
38,218,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3054:Gm5591
|
UTSW |
7 |
38,220,058 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4619:Gm5591
|
UTSW |
7 |
38,220,072 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4722:Gm5591
|
UTSW |
7 |
38,218,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Gm5591
|
UTSW |
7 |
38,221,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5079:Gm5591
|
UTSW |
7 |
38,221,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5237:Gm5591
|
UTSW |
7 |
38,221,631 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5267:Gm5591
|
UTSW |
7 |
38,218,338 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6337:Gm5591
|
UTSW |
7 |
38,221,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6458:Gm5591
|
UTSW |
7 |
38,218,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6671:Gm5591
|
UTSW |
7 |
38,219,523 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6709:Gm5591
|
UTSW |
7 |
38,221,499 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6874:Gm5591
|
UTSW |
7 |
38,219,715 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6917:Gm5591
|
UTSW |
7 |
38,221,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6993:Gm5591
|
UTSW |
7 |
38,218,647 (GRCm39) |
missense |
probably benign |
|
|
R7446:Gm5591
|
UTSW |
7 |
38,218,933 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7519:Gm5591
|
UTSW |
7 |
38,220,094 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7596:Gm5591
|
UTSW |
7 |
38,219,608 (GRCm39) |
missense |
probably benign |
|
|
R7923:Gm5591
|
UTSW |
7 |
38,221,338 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8003:Gm5591
|
UTSW |
7 |
38,219,183 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8027:Gm5591
|
UTSW |
7 |
38,221,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8058:Gm5591
|
UTSW |
7 |
38,218,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8719:Gm5591
|
UTSW |
7 |
38,221,614 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8943:Gm5591
|
UTSW |
7 |
38,219,727 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9314:Gm5591
|
UTSW |
7 |
38,221,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9403:Gm5591
|
UTSW |
7 |
38,221,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9403:Gm5591
|
UTSW |
7 |
38,219,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9424:Gm5591
|
UTSW |
7 |
38,219,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF052:Gm5591
|
UTSW |
7 |
38,221,999 (GRCm39) |
frame shift |
probably null |
|
|
RF062:Gm5591
|
UTSW |
7 |
38,221,759 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTCTCCAGCTCTGAAGG -3'
(R):5'- GGACAGGTTATTAACAGCCCC -3'
Sequencing Primer
(F):5'- TCTCCAGCTCTGAAGGGGAGG -3'
(R):5'- GTTATTAACAGCCCCCGTGTACAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation