Incidental Mutation 'R1210:Gm5422'
| ID |
100654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5422
|
| Ensembl Gene |
ENSMUSG00000039684 |
| Gene Name |
predicted pseudogene 5422 |
| Synonyms |
|
| MMRRC Submission |
039279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R1210 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
31124133-31127039 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 31126719 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: 99.1%
- 3x: 97.8%
- 10x: 93.9%
- 20x: 83.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Clec7a |
T |
C |
6: 129,442,488 (GRCm39) |
I180V |
probably damaging |
Het |
| Csf3 |
A |
G |
11: 98,593,303 (GRCm39) |
D140G |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,430,810 (GRCm39) |
S381P |
probably benign |
Het |
| Eef1b2 |
A |
G |
1: 63,216,432 (GRCm39) |
D21G |
probably damaging |
Het |
| Fam83a |
A |
T |
15: 57,858,644 (GRCm39) |
Y228F |
possibly damaging |
Het |
| Itga5 |
A |
G |
15: 103,265,900 (GRCm39) |
V149A |
possibly damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,042,915 (GRCm39) |
H440R |
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mindy4 |
T |
A |
6: 55,261,798 (GRCm39) |
L569H |
possibly damaging |
Het |
| Mme |
A |
G |
3: 63,251,027 (GRCm39) |
K356R |
probably benign |
Het |
| Nfkb1 |
A |
G |
3: 135,300,688 (GRCm39) |
I626T |
probably benign |
Het |
| Or2f1b |
T |
C |
6: 42,739,601 (GRCm39) |
V205A |
possibly damaging |
Het |
| Or2t6 |
T |
C |
14: 14,176,029 (GRCm38) |
T18A |
probably benign |
Het |
| Or4c100 |
G |
C |
2: 88,356,620 (GRCm39) |
R231P |
possibly damaging |
Het |
| Or5k1b |
T |
C |
16: 58,581,413 (GRCm39) |
N42S |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,015,470 (GRCm39) |
V789D |
probably damaging |
Het |
| Sav1 |
A |
G |
12: 70,015,953 (GRCm39) |
Y282H |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r89 |
T |
C |
14: 51,692,427 (GRCm39) |
F77L |
probably benign |
Het |
| Vps50 |
G |
A |
6: 3,594,884 (GRCm39) |
V816I |
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 |
|
|
R1259:Gm5422
|
UTSW |
10 |
31,125,111 (GRCm39) |
exon |
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'- TGACACATTTAGGGAAGGGCACAC -3'
(R):5'- TCATAGCAGGCACAACAGCGTG -3'
Sequencing Primer
(F):5'- TTTAGGGAAGGGCACACTTACC -3'
(R):5'- AGCCAGGGTCTCTAGAAGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation