Incidental Mutation 'R5731:Gm5431'
ID |
452771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5431
|
Ensembl Gene |
ENSMUSG00000058163 |
Gene Name |
predicted gene 5431 |
Synonyms |
|
MMRRC Submission |
043192-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R5731 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
48778249-48792979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48785275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 89
(Y89H)
|
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: Y89H
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104832 Gene: ENSMUSG00000058163 AA Change: Y89H
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: Y89H
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104833 Gene: ENSMUSG00000058163 AA Change: Y89H
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: Y367H
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104835 Gene: ENSMUSG00000058163 AA Change: Y367H
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5930422O12Rik |
A |
G |
8: 33,919,353 (GRCm39) |
I58V |
unknown |
Het |
Abca4 |
G |
T |
3: 121,926,242 (GRCm39) |
G18V |
probably damaging |
Het |
Arl9 |
T |
C |
5: 77,154,374 (GRCm39) |
V34A |
possibly damaging |
Het |
Bpifb9a |
A |
T |
2: 154,104,163 (GRCm39) |
N202I |
possibly damaging |
Het |
C1qtnf6 |
A |
T |
15: 78,411,514 (GRCm39) |
M54K |
probably benign |
Het |
Ccdc62 |
T |
C |
5: 124,089,352 (GRCm39) |
|
probably null |
Het |
Cd177 |
A |
G |
7: 24,443,846 (GRCm39) |
C751R |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,375,923 (GRCm39) |
I657V |
possibly damaging |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Dag1 |
T |
C |
9: 108,095,310 (GRCm39) |
T61A |
probably benign |
Het |
Fam184b |
C |
T |
5: 45,710,471 (GRCm39) |
G553E |
probably benign |
Het |
Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
Flt1 |
T |
C |
5: 147,614,962 (GRCm39) |
H328R |
probably benign |
Het |
Fmnl2 |
T |
A |
2: 53,008,149 (GRCm39) |
|
probably null |
Het |
Gprin2 |
C |
A |
14: 33,917,397 (GRCm39) |
L124F |
probably damaging |
Het |
Hacd2 |
T |
A |
16: 34,922,374 (GRCm39) |
Y188N |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,797,726 (GRCm39) |
T950A |
probably benign |
Het |
Kit |
T |
A |
5: 75,815,075 (GRCm39) |
I933N |
possibly damaging |
Het |
Klhl11 |
A |
T |
11: 100,354,589 (GRCm39) |
Y411N |
probably damaging |
Het |
N4bp2 |
T |
C |
5: 65,966,500 (GRCm39) |
S1313P |
probably damaging |
Het |
Neurog1 |
T |
C |
13: 56,399,354 (GRCm39) |
K131R |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,248 (GRCm39) |
L170P |
probably damaging |
Het |
Or5d16 |
T |
A |
2: 87,773,771 (GRCm39) |
H67L |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,717,325 (GRCm39) |
D382G |
probably damaging |
Het |
Pcdh1 |
A |
C |
18: 38,331,651 (GRCm39) |
F590V |
probably damaging |
Het |
Pcdha5 |
G |
A |
18: 37,093,820 (GRCm39) |
V110M |
probably damaging |
Het |
Pdlim3 |
A |
G |
8: 46,368,284 (GRCm39) |
N261D |
probably benign |
Het |
Pou4f1 |
T |
C |
14: 104,703,347 (GRCm39) |
T362A |
unknown |
Het |
Prlr |
A |
G |
15: 10,314,221 (GRCm39) |
T9A |
probably benign |
Het |
Psmb7 |
T |
C |
2: 38,478,289 (GRCm39) |
Y245C |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,471,917 (GRCm39) |
D4515V |
probably damaging |
Het |
Svop |
T |
C |
5: 114,198,124 (GRCm39) |
K149E |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,851,157 (GRCm39) |
V56A |
probably benign |
Het |
Tm4sf20 |
T |
G |
1: 82,738,013 (GRCm39) |
I93L |
probably benign |
Het |
Ugt2b5 |
T |
A |
5: 87,288,111 (GRCm39) |
R19* |
probably null |
Het |
Vmn2r28 |
G |
T |
7: 5,491,668 (GRCm39) |
T193K |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,802,661 (GRCm39) |
D654G |
probably damaging |
Het |
Zfyve16 |
T |
A |
13: 92,644,701 (GRCm39) |
Q1167L |
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 |
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 |
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'- GACCAACTGGAAACACTTTGCC -3'
(R):5'- AGGAATCCATAATGCCAAGAGC -3'
Sequencing Primer
(F):5'- TGGAAACACTTTGCCCACGG -3'
(R):5'- CATGGAGATGTTGCAACAGACTTTG -3'
|
Posted On |
2017-01-03 |