Incidental Mutation 'R6120:Gm5431'
ID |
485725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5431
|
Ensembl Gene |
ENSMUSG00000058163 |
Gene Name |
predicted gene 5431 |
Synonyms |
|
MMRRC Submission |
044268-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6120 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48778249-48792979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48785608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 256
(Y256H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109209]
[ENSMUST00000109210]
[ENSMUST00000109212]
|
AlphaFold |
Q5NCB3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109209
|
SMART Domains |
Protein: ENSMUSP00000104832 Gene: ENSMUSG00000058163
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
1 |
120 |
1.6e-22 |
PFAM |
low complexity region
|
153 |
166 |
N/A |
INTRINSIC |
Pfam:IIGP
|
169 |
542 |
9.4e-154 |
PFAM |
Pfam:MMR_HSR1
|
205 |
359 |
1.5e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109210
|
SMART Domains |
Protein: ENSMUSP00000104833 Gene: ENSMUSG00000058163
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
1 |
120 |
1.6e-22 |
PFAM |
low complexity region
|
153 |
166 |
N/A |
INTRINSIC |
Pfam:IIGP
|
169 |
542 |
9.4e-154 |
PFAM |
Pfam:MMR_HSR1
|
205 |
359 |
1.5e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109212
AA Change: Y256H
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104835 Gene: ENSMUSG00000058163 AA Change: Y256H
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
36 |
398 |
2.5e-125 |
PFAM |
Pfam:DLIC
|
54 |
107 |
3.4e-5 |
PFAM |
Pfam:MMR_HSR1
|
72 |
235 |
1.7e-11 |
PFAM |
low complexity region
|
431 |
444 |
N/A |
INTRINSIC |
Pfam:IIGP
|
447 |
820 |
6.3e-153 |
PFAM |
Pfam:MMR_HSR1
|
483 |
606 |
2.4e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.6%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,638,795 (GRCm39) |
V398E |
possibly damaging |
Het |
Ankef1 |
A |
G |
2: 136,392,296 (GRCm39) |
N495S |
probably benign |
Het |
Bpifb3 |
G |
T |
2: 153,773,363 (GRCm39) |
V428L |
probably benign |
Het |
Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
A |
G |
18: 22,230,785 (GRCm39) |
L362S |
probably benign |
Het |
Ccdc33 |
G |
A |
9: 57,993,883 (GRCm39) |
P88S |
probably damaging |
Het |
Cdk14 |
A |
T |
5: 4,944,029 (GRCm39) |
D385E |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,666,599 (GRCm39) |
L613P |
probably damaging |
Het |
Cnot3 |
T |
A |
7: 3,648,335 (GRCm39) |
|
probably null |
Het |
Csf1 |
T |
A |
3: 107,661,170 (GRCm39) |
I116L |
probably damaging |
Het |
Csrp2 |
G |
T |
10: 110,775,140 (GRCm39) |
A192S |
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,038,225 (GRCm39) |
T104A |
probably benign |
Het |
Eml1 |
C |
T |
12: 108,493,983 (GRCm39) |
P593S |
probably damaging |
Het |
Entpd2 |
T |
A |
2: 25,289,478 (GRCm39) |
I320N |
probably benign |
Het |
Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,838,244 (GRCm39) |
T2667A |
probably benign |
Het |
Fes |
T |
C |
7: 80,030,615 (GRCm39) |
D558G |
probably damaging |
Het |
Fgfr2 |
G |
T |
7: 129,830,420 (GRCm39) |
T186K |
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,267,760 (GRCm39) |
I1203V |
possibly damaging |
Het |
Gja1 |
T |
A |
10: 56,264,601 (GRCm39) |
M320K |
probably benign |
Het |
Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
Greb1 |
T |
G |
12: 16,758,622 (GRCm39) |
D698A |
probably damaging |
Het |
Hook2 |
A |
G |
8: 85,724,754 (GRCm39) |
E500G |
probably damaging |
Het |
Kif13b |
A |
T |
14: 64,989,007 (GRCm39) |
N796I |
probably damaging |
Het |
Kif1a |
C |
T |
1: 92,952,296 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
C |
17: 68,087,612 (GRCm39) |
|
probably null |
Het |
Mfsd1 |
C |
T |
3: 67,501,718 (GRCm39) |
Q246* |
probably null |
Het |
Mkrn3 |
A |
G |
7: 62,069,282 (GRCm39) |
S170P |
probably benign |
Het |
Ms4a6b |
A |
G |
19: 11,499,059 (GRCm39) |
M58V |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,577,169 (GRCm39) |
V2223A |
unknown |
Het |
Mycbp2 |
A |
T |
14: 103,513,323 (GRCm39) |
V811D |
probably benign |
Het |
Or5p59 |
A |
T |
7: 107,703,340 (GRCm39) |
N275Y |
probably damaging |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Or9g4b |
T |
C |
2: 85,616,685 (GRCm39) |
F277L |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,643,031 (GRCm39) |
E436G |
probably damaging |
Het |
Pet100 |
T |
G |
8: 3,671,764 (GRCm39) |
|
probably null |
Het |
Pira2 |
A |
G |
7: 3,844,553 (GRCm39) |
Y493H |
probably damaging |
Het |
Prkdc |
C |
A |
16: 15,557,335 (GRCm39) |
R2213S |
probably benign |
Het |
Prmt2 |
A |
G |
10: 76,045,280 (GRCm39) |
I342T |
possibly damaging |
Het |
Psmc6 |
A |
G |
14: 45,586,130 (GRCm39) |
E381G |
possibly damaging |
Het |
Rrm1 |
G |
A |
7: 102,110,063 (GRCm39) |
|
probably null |
Het |
Sema3c |
A |
G |
5: 17,932,630 (GRCm39) |
D711G |
probably benign |
Het |
Sgcb |
T |
C |
5: 73,798,153 (GRCm39) |
E103G |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,255,848 (GRCm39) |
S957P |
probably damaging |
Het |
Slc26a2 |
A |
G |
18: 61,332,489 (GRCm39) |
V314A |
possibly damaging |
Het |
Smarca5 |
G |
T |
8: 81,438,372 (GRCm39) |
H655N |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,442,510 (GRCm39) |
S2002T |
probably damaging |
Het |
Sync |
T |
C |
4: 129,187,544 (GRCm39) |
L192P |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,090,800 (GRCm39) |
M477T |
probably benign |
Het |
Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
Vcam1 |
A |
G |
3: 115,918,049 (GRCm39) |
V304A |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,003 (GRCm39) |
W297R |
probably damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,832,973 (GRCm39) |
M69L |
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,226,515 (GRCm39) |
D771G |
probably damaging |
Het |
|
Other mutations in Gm5431 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00479:Gm5431
|
APN |
11 |
48,786,241 (GRCm39) |
missense |
probably benign |
0.09 |
IGL00964:Gm5431
|
APN |
11 |
48,780,094 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01571:Gm5431
|
APN |
11 |
48,785,540 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02006:Gm5431
|
APN |
11 |
48,779,330 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02084:Gm5431
|
APN |
11 |
48,779,912 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02255:Gm5431
|
APN |
11 |
48,779,785 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02291:Gm5431
|
APN |
11 |
48,779,791 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03194:Gm5431
|
APN |
11 |
48,786,364 (GRCm39) |
intron |
probably benign |
|
IGL03251:Gm5431
|
APN |
11 |
48,785,548 (GRCm39) |
missense |
probably benign |
0.00 |
R1168:Gm5431
|
UTSW |
11 |
48,786,191 (GRCm39) |
missense |
probably benign |
0.36 |
R1387:Gm5431
|
UTSW |
11 |
48,785,842 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1396:Gm5431
|
UTSW |
11 |
48,786,261 (GRCm39) |
intron |
probably benign |
|
R1711:Gm5431
|
UTSW |
11 |
48,785,853 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1750:Gm5431
|
UTSW |
11 |
48,785,658 (GRCm39) |
missense |
probably benign |
0.01 |
R1927:Gm5431
|
UTSW |
11 |
48,780,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Gm5431
|
UTSW |
11 |
48,779,224 (GRCm39) |
nonsense |
probably null |
|
R2196:Gm5431
|
UTSW |
11 |
48,780,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Gm5431
|
UTSW |
11 |
48,779,536 (GRCm39) |
missense |
probably benign |
0.16 |
R2511:Gm5431
|
UTSW |
11 |
48,779,536 (GRCm39) |
missense |
probably benign |
0.16 |
R4018:Gm5431
|
UTSW |
11 |
48,779,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Gm5431
|
UTSW |
11 |
48,780,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R4895:Gm5431
|
UTSW |
11 |
48,779,855 (GRCm39) |
missense |
probably damaging |
0.98 |
R5124:Gm5431
|
UTSW |
11 |
48,779,866 (GRCm39) |
missense |
probably benign |
0.31 |
R5311:Gm5431
|
UTSW |
11 |
48,779,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R5600:Gm5431
|
UTSW |
11 |
48,785,583 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5728:Gm5431
|
UTSW |
11 |
48,779,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R5731:Gm5431
|
UTSW |
11 |
48,785,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R6129:Gm5431
|
UTSW |
11 |
48,780,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Gm5431
|
UTSW |
11 |
48,779,402 (GRCm39) |
missense |
probably benign |
0.29 |
R6192:Gm5431
|
UTSW |
11 |
48,785,220 (GRCm39) |
missense |
probably benign |
0.01 |
R6253:Gm5431
|
UTSW |
11 |
48,785,826 (GRCm39) |
missense |
probably benign |
0.00 |
R6326:Gm5431
|
UTSW |
11 |
48,780,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R6401:Gm5431
|
UTSW |
11 |
48,779,536 (GRCm39) |
missense |
probably benign |
0.16 |
R6654:Gm5431
|
UTSW |
11 |
48,785,427 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6810:Gm5431
|
UTSW |
11 |
48,779,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R6965:Gm5431
|
UTSW |
11 |
48,786,027 (GRCm39) |
missense |
probably benign |
0.19 |
R6970:Gm5431
|
UTSW |
11 |
48,779,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R7269:Gm5431
|
UTSW |
11 |
48,779,237 (GRCm39) |
missense |
probably benign |
|
R7770:Gm5431
|
UTSW |
11 |
48,779,285 (GRCm39) |
missense |
probably benign |
0.02 |
R8260:Gm5431
|
UTSW |
11 |
48,785,556 (GRCm39) |
missense |
probably benign |
0.01 |
R8385:Gm5431
|
UTSW |
11 |
48,780,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R9058:Gm5431
|
UTSW |
11 |
48,786,049 (GRCm39) |
missense |
probably benign |
0.09 |
R9127:Gm5431
|
UTSW |
11 |
48,779,600 (GRCm39) |
nonsense |
probably null |
|
R9138:Gm5431
|
UTSW |
11 |
48,780,498 (GRCm39) |
missense |
probably benign |
0.05 |
R9355:Gm5431
|
UTSW |
11 |
48,785,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R9655:Gm5431
|
UTSW |
11 |
48,785,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCATTCAAAGTCTGTTGCAACATC -3'
(R):5'- TCGAACCCACACAGATCTTG -3'
Sequencing Primer
(F):5'- CAAAGTCTGTTGCAACATCTCCATG -3'
(R):5'- CCCACACAGATCTTGATTTAATGG -3'
|
Posted On |
2017-08-16 |