Incidental Mutation 'R1259:Gm5422'
| ID |
151551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5422
|
| Ensembl Gene |
ENSMUSG00000039684 |
| Gene Name |
predicted pseudogene 5422 |
| Synonyms |
|
| MMRRC Submission |
039326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R1259 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
31124133-31127039 bp(+) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
T to C
at 31125111 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
A |
8: 44,021,684 (GRCm39) |
D602V |
probably benign |
Het |
| Adam26a |
T |
C |
8: 44,021,750 (GRCm39) |
D580G |
possibly damaging |
Het |
| B4galt6 |
T |
G |
18: 20,839,559 (GRCm39) |
E125A |
possibly damaging |
Het |
| Dnm1l |
A |
G |
16: 16,141,870 (GRCm39) |
I292T |
possibly damaging |
Het |
| Elp3 |
A |
T |
14: 65,785,388 (GRCm39) |
I471K |
probably damaging |
Het |
| Fbxw13 |
A |
T |
9: 109,014,439 (GRCm39) |
V83E |
probably damaging |
Het |
| Krtap6-5 |
C |
T |
16: 88,844,607 (GRCm39) |
R42H |
unknown |
Het |
| Lpcat2b |
C |
T |
5: 107,581,763 (GRCm39) |
A364V |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Lypd9 |
A |
G |
11: 58,338,296 (GRCm39) |
I32T |
probably benign |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,464 (GRCm39) |
|
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,169 (GRCm39) |
L197Q |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,519,875 (GRCm39) |
I34N |
probably damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,796,771 (GRCm39) |
F871L |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,097,324 (GRCm39) |
D493V |
probably damaging |
Het |
| Pik3cd |
G |
A |
4: 149,735,105 (GRCm39) |
R1046* |
probably null |
Het |
| Pom121l2 |
G |
A |
13: 22,166,297 (GRCm39) |
W189* |
probably null |
Het |
| Prex2 |
C |
A |
1: 11,359,494 (GRCm39) |
N1567K |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,245,472 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
C |
6: 137,369,739 (GRCm39) |
V517A |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,239,763 (GRCm39) |
I267F |
probably damaging |
Het |
| Wasf3 |
T |
C |
5: 146,388,786 (GRCm39) |
V80A |
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 |
|
|
R1352:Gm5422
|
UTSW |
10 |
31,126,731 (GRCm39) |
intron |
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'- TGTTCCGAAAGTTTAGCCGTTTCCC -3'
(R):5'- GCCATTTGTTGCCATCATCAGTCAG -3'
Sequencing Primer
(F):5'- CCTGAATCTCTGAGATTGGCAC -3'
(R):5'- TTATCTTGACCAAAGGCGGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation