Incidental Mutation 'R6810:Gm5431'
ID |
533769 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5431
|
Ensembl Gene |
ENSMUSG00000058163 |
Gene Name |
predicted gene 5431 |
Synonyms |
|
MMRRC Submission |
044923-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6810 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48778249-48792979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48779803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 651
(D651G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109209]
[ENSMUST00000109210]
[ENSMUST00000109212]
|
AlphaFold |
Q5NCB3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109209
AA Change: D373G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104832 Gene: ENSMUSG00000058163 AA Change: D373G
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 damaging
Transcript: ENSMUST00000109210
AA Change: D373G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104833 Gene: ENSMUSG00000058163 AA Change: D373G
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 damaging
Transcript: ENSMUST00000109212
AA Change: D651G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104835 Gene: ENSMUSG00000058163 AA Change: D651G
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg5 |
A |
T |
8: 95,660,570 (GRCm39) |
T70S |
probably damaging |
Het |
Adora1 |
T |
C |
1: 134,161,777 (GRCm39) |
Y106C |
probably damaging |
Het |
Aox3 |
T |
A |
1: 58,180,590 (GRCm39) |
N250K |
probably benign |
Het |
Ap2b1 |
A |
T |
11: 83,226,317 (GRCm39) |
Y238F |
possibly damaging |
Het |
Birc6 |
G |
A |
17: 74,919,215 (GRCm39) |
S2015N |
possibly damaging |
Het |
C7 |
A |
G |
15: 5,037,136 (GRCm39) |
F581L |
probably damaging |
Het |
Cd27 |
A |
T |
6: 125,210,627 (GRCm39) |
H203Q |
probably damaging |
Het |
Cdk2 |
A |
G |
10: 128,535,456 (GRCm39) |
V274A |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,949,583 (GRCm39) |
T1351A |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,839,523 (GRCm39) |
L1353P |
probably damaging |
Het |
Dcc |
C |
T |
18: 71,503,764 (GRCm39) |
V945M |
probably damaging |
Het |
Dio1 |
A |
G |
4: 107,154,922 (GRCm39) |
V118A |
probably damaging |
Het |
Dst |
C |
T |
1: 34,251,379 (GRCm39) |
T1818M |
probably damaging |
Het |
Dthd1 |
T |
A |
5: 62,971,672 (GRCm39) |
M165K |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,085,741 (GRCm39) |
I929V |
probably benign |
Het |
F5 |
T |
A |
1: 164,014,471 (GRCm39) |
S581T |
probably damaging |
Het |
Fanca |
A |
C |
8: 124,013,216 (GRCm39) |
I761S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,173,067 (GRCm39) |
T2549A |
possibly damaging |
Het |
Fut2 |
A |
G |
7: 45,299,929 (GRCm39) |
L281P |
probably damaging |
Het |
Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
Hook3 |
A |
C |
8: 26,522,450 (GRCm39) |
|
probably null |
Het |
Ivd |
G |
T |
2: 118,700,242 (GRCm39) |
V90L |
probably benign |
Het |
Klhdc7b |
A |
G |
15: 89,272,559 (GRCm39) |
Y1147C |
possibly damaging |
Het |
Mlh1 |
G |
A |
9: 111,070,626 (GRCm39) |
T363M |
possibly damaging |
Het |
Ndufa3 |
A |
T |
7: 3,622,476 (GRCm39) |
I45F |
probably damaging |
Het |
Nell2 |
T |
C |
15: 95,139,468 (GRCm39) |
D588G |
probably damaging |
Het |
Nhlrc3 |
T |
C |
3: 53,360,996 (GRCm39) |
N253S |
probably benign |
Het |
Nlrp4c |
T |
A |
7: 6,069,754 (GRCm39) |
F552I |
probably damaging |
Het |
Or51g1 |
A |
C |
7: 102,634,042 (GRCm39) |
S110A |
probably damaging |
Het |
Or5j3 |
G |
A |
2: 86,128,267 (GRCm39) |
A36T |
probably benign |
Het |
Pcdhga12 |
T |
C |
18: 37,900,232 (GRCm39) |
S355P |
probably benign |
Het |
Pcdhga7 |
A |
T |
18: 37,848,926 (GRCm39) |
Y311F |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,569,088 (GRCm39) |
|
probably null |
Het |
Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,287,457 (GRCm39) |
V480A |
probably benign |
Het |
Psrc1 |
A |
T |
3: 108,292,664 (GRCm39) |
K152N |
possibly damaging |
Het |
Ptcd3 |
A |
C |
6: 71,862,516 (GRCm39) |
V473G |
probably damaging |
Het |
Rab11fip1 |
ACTCT |
ACT |
8: 27,642,760 (GRCm39) |
|
probably null |
Het |
Semp2l2b |
C |
T |
10: 21,942,616 (GRCm39) |
G455R |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,805,577 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
A |
G |
9: 64,855,605 (GRCm39) |
V434A |
probably benign |
Het |
Snd1 |
T |
A |
6: 28,668,609 (GRCm39) |
V432E |
probably benign |
Het |
Syne2 |
C |
T |
12: 75,989,659 (GRCm39) |
T1847M |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Tes |
C |
A |
6: 17,104,651 (GRCm39) |
N377K |
probably benign |
Het |
Tfip11 |
T |
A |
5: 112,481,463 (GRCm39) |
I452N |
probably benign |
Het |
Tgfbi |
T |
C |
13: 56,785,016 (GRCm39) |
S658P |
probably benign |
Het |
Tmx4 |
A |
C |
2: 134,462,594 (GRCm39) |
D112E |
probably damaging |
Het |
Tnn |
G |
T |
1: 159,932,412 (GRCm39) |
D1367E |
probably damaging |
Het |
Triobp |
A |
G |
15: 78,850,815 (GRCm39) |
N323S |
possibly damaging |
Het |
Usp40 |
T |
C |
1: 87,908,755 (GRCm39) |
D582G |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,600,296 (GRCm39) |
K440R |
probably benign |
Het |
Zfp707 |
T |
A |
15: 75,846,748 (GRCm39) |
L193Q |
probably damaging |
Het |
Zfp748 |
T |
C |
13: 67,689,844 (GRCm39) |
Y472C |
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 |
R6120:Gm5431
|
UTSW |
11 |
48,785,608 (GRCm39) |
missense |
probably benign |
0.36 |
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 |
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'- AGTCAAGGTCTCTTCCAACTTCTG -3'
(R):5'- GATGCACATCTGGCCAAAGC -3'
Sequencing Primer
(F):5'- TGACTAAGCCCCCAAGTGGAATG -3'
(R):5'- AGTTCTACTTTGTCCGAACCAAG -3'
|
Posted On |
2018-09-12 |