Incidental Mutation 'R1352:Gm5422'
| ID |
156709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5422
|
| Ensembl Gene |
ENSMUSG00000039684 |
| Gene Name |
predicted pseudogene 5422 |
| Synonyms |
|
| MMRRC Submission |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
31124133-31127039 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to C
at 31126731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000050717
|
| SMART Domains |
Protein: ENSMUSP00000135967
Gene: ENSMUSG00000039684
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
61 |
N/A |
INTRINSIC |
|
Pfam:PC_rep
|
438 |
474 |
6.8e-9 |
PFAM |
|
Pfam:PC_rep
|
475 |
509 |
1.1e-8 |
PFAM |
|
SCOP:d1gw5a_
|
603 |
760 |
4e-4 |
SMART |
|
PDB:4CR4|Z
|
648 |
901 |
1e-50 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216161
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
| Acbd3 |
T |
A |
1: 180,566,095 (GRCm39) |
Y263N |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,362,830 (GRCm39) |
V142A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,258,415 (GRCm39) |
S138P |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,298 (GRCm39) |
Y79C |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
| Gmppa |
T |
A |
1: 75,417,178 (GRCm39) |
D204E |
probably benign |
Het |
| Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
| Kng1 |
G |
T |
16: 22,886,444 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,080,764 (GRCm39) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,207,185 (GRCm39) |
S856P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
probably damaging |
Het |
|
| Other mutations in Gm5422 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Gm5422
|
APN |
10 |
31,125,432 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01569:Gm5422
|
APN |
10 |
31,125,897 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01645:Gm5422
|
APN |
10 |
31,126,069 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02273:Gm5422
|
APN |
10 |
31,126,003 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02603:Gm5422
|
APN |
10 |
31,125,436 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02928:Gm5422
|
APN |
10 |
31,126,250 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL03003:Gm5422
|
APN |
10 |
31,126,840 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL03274:Gm5422
|
APN |
10 |
31,126,348 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL03297:Gm5422
|
APN |
10 |
31,125,727 (GRCm39) |
exon |
noncoding transcript |
|
|
ANU23:Gm5422
|
UTSW |
10 |
31,125,432 (GRCm39) |
exon |
noncoding transcript |
|
|
R0010:Gm5422
|
UTSW |
10 |
31,125,750 (GRCm39) |
exon |
noncoding transcript |
|
|
R0506:Gm5422
|
UTSW |
10 |
31,126,318 (GRCm39) |
exon |
noncoding transcript |
|
|
R0560:Gm5422
|
UTSW |
10 |
31,125,240 (GRCm39) |
exon |
noncoding transcript |
|
|
R0573:Gm5422
|
UTSW |
10 |
31,126,156 (GRCm39) |
exon |
noncoding transcript |
|
|
R0652:Gm5422
|
UTSW |
10 |
31,125,277 (GRCm39) |
exon |
noncoding transcript |
|
|
R1210:Gm5422
|
UTSW |
10 |
31,126,719 (GRCm39) |
intron |
noncoding transcript |
|
|
R1259:Gm5422
|
UTSW |
10 |
31,125,111 (GRCm39) |
exon |
noncoding transcript |
|
|
R1631:Gm5422
|
UTSW |
10 |
31,125,802 (GRCm39) |
exon |
noncoding transcript |
|
|
R1707:Gm5422
|
UTSW |
10 |
31,124,458 (GRCm39) |
exon |
noncoding transcript |
|
|
R1893:Gm5422
|
UTSW |
10 |
31,125,609 (GRCm39) |
exon |
noncoding transcript |
|
|
R2011:Gm5422
|
UTSW |
10 |
31,124,764 (GRCm39) |
exon |
noncoding transcript |
|
|
R2132:Gm5422
|
UTSW |
10 |
31,124,929 (GRCm39) |
exon |
noncoding transcript |
|
|
R3427:Gm5422
|
UTSW |
10 |
31,124,842 (GRCm39) |
exon |
noncoding transcript |
|
|
R3772:Gm5422
|
UTSW |
10 |
31,124,510 (GRCm39) |
exon |
noncoding transcript |
|
|
R4703:Gm5422
|
UTSW |
10 |
31,125,608 (GRCm39) |
exon |
noncoding transcript |
|
|
R5539:Gm5422
|
UTSW |
10 |
31,124,646 (GRCm39) |
exon |
noncoding transcript |
|
|
R5603:Gm5422
|
UTSW |
10 |
31,126,840 (GRCm39) |
exon |
noncoding transcript |
|
|
R5660:Gm5422
|
UTSW |
10 |
31,126,048 (GRCm39) |
exon |
noncoding transcript |
|
|
R6124:Gm5422
|
UTSW |
10 |
31,125,396 (GRCm39) |
exon |
noncoding transcript |
|
|
R6178:Gm5422
|
UTSW |
10 |
31,125,688 (GRCm39) |
exon |
noncoding transcript |
|
|
R8263:Gm5422
|
UTSW |
10 |
31,125,099 (GRCm39) |
missense |
noncoding transcript |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACACATTTAGGGAAGGGCACAC -3'
(R):5'- TCATAGCAGGCACAACAGCGTG -3'
Sequencing Primer
(F):5'- TTTAGGGAAGGGCACACTTACC -3'
(R):5'- GTGCTAAAGACAAAAAATTCCGCTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation