Incidental Mutation 'R6654:Gm5431'
| ID |
526565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5431
|
| Ensembl Gene |
ENSMUSG00000058163 |
| Gene Name |
predicted gene 5431 |
| Synonyms |
|
| MMRRC Submission |
044775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6654 (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 48785427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 316
(D316G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109209]
[ENSMUST00000109210]
[ENSMUST00000109212]
|
| AlphaFold |
Q5NCB3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109209
AA Change: D38G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104832
Gene: ENSMUSG00000058163
AA Change: D38G
| 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 |
possibly damaging
Transcript: ENSMUST00000109210
AA Change: D38G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104833
Gene: ENSMUSG00000058163
AA Change: D38G
| 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 |
possibly damaging
Transcript: ENSMUST00000109212
AA Change: D316G
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104835
Gene: ENSMUSG00000058163
AA Change: D316G
| 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: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Armc6 |
T |
C |
8: 70,684,025 (GRCm39) |
E9G |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ddc |
A |
T |
11: 11,830,452 (GRCm39) |
I64N |
probably damaging |
Het |
| Exd1 |
T |
A |
2: 119,355,198 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
C |
A |
1: 166,457,956 (GRCm39) |
G466C |
probably damaging |
Het |
| Gsta4 |
T |
C |
9: 78,116,381 (GRCm39) |
F197L |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,056,486 (GRCm39) |
Y649H |
probably damaging |
Het |
| Kif16b |
T |
C |
2: 142,543,197 (GRCm39) |
|
probably benign |
Het |
| Krtap12-1 |
T |
C |
10: 77,556,537 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,927,457 (GRCm39) |
S537N |
probably damaging |
Het |
| Med12l |
G |
T |
3: 59,169,713 (GRCm39) |
G1626W |
probably damaging |
Het |
| Mfng |
T |
A |
15: 78,643,539 (GRCm39) |
T223S |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,550 (GRCm39) |
T321A |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,123,322 (GRCm39) |
I672V |
possibly damaging |
Het |
| Nbas |
C |
T |
12: 13,533,875 (GRCm39) |
Q1837* |
probably null |
Het |
| Nlrc4 |
G |
A |
17: 74,752,523 (GRCm39) |
A620V |
possibly damaging |
Het |
| Nubpl |
T |
A |
12: 52,357,516 (GRCm39) |
V310E |
probably damaging |
Het |
| Or4p21 |
T |
G |
2: 88,277,016 (GRCm39) |
T89P |
possibly damaging |
Het |
| Or5aq6 |
A |
G |
2: 86,923,394 (GRCm39) |
S116P |
probably benign |
Het |
| P2ry12 |
A |
G |
3: 59,125,441 (GRCm39) |
L78P |
probably damaging |
Het |
| Pira1 |
A |
T |
7: 3,738,928 (GRCm39) |
S560T |
probably benign |
Het |
| Pkd1l3 |
T |
G |
8: 110,350,915 (GRCm39) |
S587A |
probably benign |
Het |
| Potefam1 |
T |
A |
2: 111,002,229 (GRCm39) |
M154L |
unknown |
Het |
| Prkacb |
A |
G |
3: 146,456,298 (GRCm39) |
V145A |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,946,833 (GRCm39) |
E1256G |
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,788,988 (GRCm39) |
Q611R |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,891,941 (GRCm39) |
D1903G |
possibly damaging |
Het |
| Tmem39b |
A |
T |
4: 129,580,619 (GRCm39) |
V291D |
probably damaging |
Het |
| Unc79 |
A |
C |
12: 103,045,307 (GRCm39) |
K685Q |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,045,308 (GRCm39) |
K685I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r112 |
G |
T |
17: 22,822,450 (GRCm39) |
S376I |
possibly damaging |
Het |
| Zfp850 |
A |
T |
7: 27,684,640 (GRCm39) |
C35* |
probably null |
Het |
| Zfp974 |
A |
G |
7: 27,625,828 (GRCm39) |
V14A |
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 |
|
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'- ATTTTAACATCGCTTGCAACCG -3'
(R):5'- ATGTTCATGCTCACGTTGCC -3'
Sequencing Primer
(F):5'- GCTTGCAACCGTGTCAATG -3'
(R):5'- GCCTATTGTTACAGATTCCACCATAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation