Incidental Mutation 'R2365:Gm5591'
| ID |
318095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5591
|
| Ensembl Gene |
ENSMUSG00000060565 |
| Gene Name |
predicted gene 5591 |
| Synonyms |
|
| MMRRC Submission |
040346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R2365 (G1)
|
| Quality Score |
39 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
38217563-38227617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38218825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 683
(R683W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079759]
|
| AlphaFold |
Q8CDK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079759
AA Change: R683W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: R683W
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186462
|
| Meta Mutation Damage Score |
0.1471 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
94% (34/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
T |
A |
16: 29,070,008 (GRCm39) |
K959N |
probably benign |
Het |
| C4b |
G |
A |
17: 34,955,032 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
T |
G |
13: 54,865,901 (GRCm39) |
S268R |
probably benign |
Het |
| Erc1 |
A |
G |
6: 119,552,656 (GRCm39) |
L1094P |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,034,568 (GRCm39) |
H2740R |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,744,709 (GRCm39) |
Y136C |
possibly damaging |
Het |
| Gipc2 |
A |
G |
3: 151,833,831 (GRCm39) |
I150T |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm21957 |
T |
C |
7: 124,818,629 (GRCm39) |
|
noncoding transcript |
Het |
| Gm826 |
A |
G |
2: 160,169,130 (GRCm39) |
S60P |
unknown |
Het |
| Hsd17b7 |
T |
C |
1: 169,792,009 (GRCm39) |
D133G |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,444,805 (GRCm39) |
T55A |
probably benign |
Het |
| Mff |
T |
C |
1: 82,713,192 (GRCm39) |
V129A |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,147,384 (GRCm39) |
L53P |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,863,286 (GRCm39) |
V427A |
probably benign |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or52e19 |
A |
T |
7: 102,959,380 (GRCm39) |
I151L |
probably benign |
Het |
| Pfkfb3 |
C |
T |
2: 11,498,713 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,167,954 (GRCm39) |
T742A |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,171,746 (GRCm39) |
S302P |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Sall3 |
G |
C |
18: 81,015,007 (GRCm39) |
P974A |
probably benign |
Het |
| Slc1a2 |
T |
A |
2: 102,578,798 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
A |
G |
19: 8,596,761 (GRCm39) |
T180A |
probably benign |
Het |
| Slc40a1 |
T |
C |
1: 45,963,873 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
C |
7: 49,596,284 (GRCm39) |
S585P |
possibly damaging |
Het |
| Tbpl1 |
A |
G |
10: 22,581,785 (GRCm39) |
V164A |
possibly damaging |
Het |
| Tmem98 |
A |
T |
11: 80,706,511 (GRCm39) |
I95F |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,111,188 (GRCm39) |
P571T |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,234,428 (GRCm39) |
N1125D |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,813,894 (GRCm39) |
|
probably benign |
Het |
| Zbtb18 |
A |
T |
1: 177,275,723 (GRCm39) |
E361V |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,317,168 (GRCm39) |
F144S |
probably 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 |
|
|
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 |
|
R8242:Gm5591
|
UTSW |
7 |
38,219,746 (GRCm39) |
missense |
probably benign |
|
|
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'- GTAGGGTACAAGCCTCATGTG -3'
(R):5'- GCTAGATATGCCACCTGAGG -3'
Sequencing Primer
(F):5'- TCATGTGGGCCAACTGAGG -3'
(R):5'- GTCCTGACAGAATCCCAGGTAAAG -3'
|
| Posted On |
2015-05-20 |
Incidental Mutation