Incidental Mutation 'R6129:Gm5431'
ID |
487581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5431
|
Ensembl Gene |
ENSMUSG00000058163 |
Gene Name |
predicted gene 5431 |
Synonyms |
|
MMRRC Submission |
044276-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R6129 (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 48780418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 168
(L168P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109209]
[ENSMUST00000109210]
[ENSMUST00000109212]
|
AlphaFold |
Q5NCB3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109209
AA Change: L168P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104832 Gene: ENSMUSG00000058163 AA Change: L168P
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: L168P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104833 Gene: ENSMUSG00000058163 AA Change: L168P
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: L446P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104835 Gene: ENSMUSG00000058163 AA Change: L446P
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: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810408A11Rik |
T |
A |
11: 69,789,137 (GRCm39) |
Y354F |
probably damaging |
Het |
Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
Acsm2 |
G |
A |
7: 119,190,470 (GRCm39) |
|
probably null |
Het |
Adgrl1 |
A |
G |
8: 84,645,616 (GRCm39) |
N80D |
probably damaging |
Het |
Ankrd34a |
T |
A |
3: 96,505,274 (GRCm39) |
Y159* |
probably null |
Het |
Bcl2l2 |
G |
A |
14: 55,122,202 (GRCm39) |
V122M |
possibly damaging |
Het |
Brms1l |
A |
G |
12: 55,914,970 (GRCm39) |
H293R |
probably benign |
Het |
Ccn1 |
T |
C |
3: 145,354,986 (GRCm39) |
I90V |
possibly damaging |
Het |
Clec4b1 |
A |
G |
6: 123,045,461 (GRCm39) |
T94A |
possibly damaging |
Het |
Crim1 |
A |
G |
17: 78,588,738 (GRCm39) |
D271G |
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,387,127 (GRCm39) |
G2141S |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,505,340 (GRCm39) |
Y2156* |
probably null |
Het |
Ctnnal1 |
C |
A |
4: 56,829,573 (GRCm39) |
A419S |
possibly damaging |
Het |
Cyp27a1 |
G |
A |
1: 74,774,851 (GRCm39) |
R264H |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dsc2 |
T |
A |
18: 20,178,487 (GRCm39) |
T306S |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ermp1 |
A |
T |
19: 29,600,609 (GRCm39) |
Y586N |
possibly damaging |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm5114 |
C |
T |
7: 39,058,024 (GRCm39) |
A532T |
possibly damaging |
Het |
Hao2 |
T |
C |
3: 98,787,842 (GRCm39) |
T196A |
probably benign |
Het |
Hdac9 |
A |
C |
12: 34,337,474 (GRCm39) |
L669R |
probably damaging |
Het |
Hps5 |
A |
G |
7: 46,421,198 (GRCm39) |
V755A |
probably benign |
Het |
Jag2 |
G |
T |
12: 112,883,969 (GRCm39) |
Y203* |
probably null |
Het |
Lrrn3 |
G |
A |
12: 41,503,787 (GRCm39) |
Q177* |
probably null |
Het |
Me1 |
A |
T |
9: 86,533,009 (GRCm39) |
V151E |
probably damaging |
Het |
Mkx |
A |
G |
18: 6,992,888 (GRCm39) |
V132A |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,522,836 (GRCm39) |
S643P |
probably benign |
Het |
Mysm1 |
C |
A |
4: 94,856,192 (GRCm39) |
R135L |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,011,483 (GRCm39) |
F4L |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,542,567 (GRCm39) |
C1773* |
probably null |
Het |
Pcbp3 |
T |
C |
10: 76,599,182 (GRCm39) |
E318G |
probably damaging |
Het |
Pcdh12 |
T |
C |
18: 38,410,912 (GRCm39) |
K984E |
probably damaging |
Het |
Pcna-ps2 |
A |
G |
19: 9,261,379 (GRCm39) |
N213D |
possibly damaging |
Het |
Pde8b |
G |
A |
13: 95,178,467 (GRCm39) |
A509V |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Phf7 |
A |
G |
14: 30,962,820 (GRCm39) |
Y137H |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,818,543 (GRCm39) |
V1315A |
probably benign |
Het |
Plxnd1 |
A |
G |
6: 115,955,135 (GRCm39) |
C571R |
probably damaging |
Het |
Ppp1r12b |
C |
T |
1: 134,819,990 (GRCm39) |
W251* |
probably null |
Het |
Prps1l1 |
A |
G |
12: 35,035,329 (GRCm39) |
E148G |
probably damaging |
Het |
Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
Robo3 |
A |
G |
9: 37,334,589 (GRCm39) |
Y592H |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Rufy1 |
A |
T |
11: 50,308,075 (GRCm39) |
L259Q |
probably damaging |
Het |
Rusc2 |
T |
C |
4: 43,424,271 (GRCm39) |
F1112S |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,815,144 (GRCm39) |
V622A |
possibly damaging |
Het |
Sptbn4 |
C |
A |
7: 27,059,513 (GRCm39) |
C1124F |
probably damaging |
Het |
Stk10 |
T |
A |
11: 32,565,871 (GRCm39) |
C872S |
probably damaging |
Het |
Tex15 |
A |
T |
8: 34,064,158 (GRCm39) |
N1196I |
possibly damaging |
Het |
Tnxa |
A |
G |
17: 35,019,262 (GRCm39) |
|
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zscan4b |
T |
A |
7: 10,635,815 (GRCm39) |
T171S |
probably benign |
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 |
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'- CTCAAGGCATTGATGAAGCTGG -3'
(R):5'- TAGTAATGGTATCAGCAGCTGAGC -3'
Sequencing Primer
(F):5'- CATTGATGAAGCTGGATTTCCC -3'
(R):5'- GAACAAATTCCTAGGCCTTGC -3'
|
Posted On |
2017-10-10 |