Incidental Mutation 'R5124:Gm5431'
ID |
393456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5431
|
Ensembl Gene |
ENSMUSG00000058163 |
Gene Name |
predicted gene 5431 |
Synonyms |
|
MMRRC Submission |
042712-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R5124 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48778249-48792979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48779866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 630
(Q630L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109209]
[ENSMUST00000109210]
[ENSMUST00000109212]
|
AlphaFold |
Q5NCB3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109209
AA Change: Q352L
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104832 Gene: ENSMUSG00000058163 AA Change: Q352L
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
AA Change: Q352L
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104833 Gene: ENSMUSG00000058163 AA Change: Q352L
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: Q630L
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104835 Gene: ENSMUSG00000058163 AA Change: Q630L
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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
T |
4: 144,401,289 (GRCm39) |
I65N |
probably damaging |
Het |
Adpgk |
A |
G |
9: 59,222,561 (GRCm39) |
D496G |
possibly damaging |
Het |
Agbl4 |
A |
G |
4: 111,513,525 (GRCm39) |
M424V |
probably benign |
Het |
Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
Bpifa3 |
C |
T |
2: 153,980,057 (GRCm39) |
Q230* |
probably null |
Het |
Cog4 |
G |
T |
8: 111,573,825 (GRCm39) |
R48L |
probably damaging |
Het |
Cop1 |
A |
G |
1: 159,105,682 (GRCm39) |
Y33C |
probably damaging |
Het |
Cyp26a1 |
A |
T |
19: 37,689,665 (GRCm39) |
I454L |
probably benign |
Het |
Ddr1 |
T |
C |
17: 35,994,489 (GRCm39) |
H762R |
probably damaging |
Het |
Dnajc2 |
A |
T |
5: 21,968,482 (GRCm39) |
S328T |
probably benign |
Het |
Dppa2 |
G |
T |
16: 48,131,986 (GRCm39) |
V28F |
probably damaging |
Het |
Dusp15 |
T |
A |
2: 152,793,275 (GRCm39) |
M1L |
possibly damaging |
Het |
Eml5 |
G |
A |
12: 98,758,301 (GRCm39) |
T1875M |
probably damaging |
Het |
Fam186a |
A |
G |
15: 99,840,977 (GRCm39) |
S1756P |
possibly damaging |
Het |
H6pd |
A |
G |
4: 150,066,512 (GRCm39) |
S625P |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kcnj6 |
G |
T |
16: 94,633,518 (GRCm39) |
P180T |
probably damaging |
Het |
Lpin3 |
T |
A |
2: 160,738,981 (GRCm39) |
M263K |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,331,834 (GRCm39) |
D1640E |
probably damaging |
Het |
Lypd2 |
C |
T |
15: 74,604,347 (GRCm39) |
A74T |
probably benign |
Het |
Map4k1 |
T |
C |
7: 28,688,257 (GRCm39) |
L223P |
probably damaging |
Het |
Myh7 |
A |
T |
14: 55,223,199 (GRCm39) |
Y715* |
probably null |
Het |
Myo9b |
T |
C |
8: 71,808,483 (GRCm39) |
S1697P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,171,510 (GRCm39) |
E1661G |
probably damaging |
Het |
Nek8 |
A |
T |
11: 78,063,765 (GRCm39) |
M80K |
probably damaging |
Het |
Nup188 |
T |
A |
2: 30,220,947 (GRCm39) |
L979Q |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,431 (GRCm39) |
V113D |
probably damaging |
Het |
P4htm |
T |
A |
9: 108,459,141 (GRCm39) |
S264C |
possibly damaging |
Het |
Pcdha8 |
A |
G |
18: 37,126,768 (GRCm39) |
T417A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,727,406 (GRCm39) |
|
probably benign |
Het |
Prox1 |
T |
A |
1: 189,893,476 (GRCm39) |
N323I |
possibly damaging |
Het |
Prune2 |
A |
T |
19: 17,177,274 (GRCm39) |
R222S |
probably damaging |
Het |
Psmd2 |
C |
A |
16: 20,471,448 (GRCm39) |
R100S |
possibly damaging |
Het |
Qrich2 |
A |
T |
11: 116,337,599 (GRCm39) |
M1963K |
probably damaging |
Het |
Rbm39 |
C |
T |
2: 156,001,082 (GRCm39) |
G324D |
probably damaging |
Het |
Rhobtb1 |
A |
T |
10: 69,105,731 (GRCm39) |
|
probably null |
Het |
Rhov |
G |
T |
2: 119,101,568 (GRCm39) |
P13T |
unknown |
Het |
Sec14l3 |
A |
G |
11: 4,025,209 (GRCm39) |
D273G |
possibly damaging |
Het |
Sirpd |
T |
A |
3: 15,385,639 (GRCm39) |
R88* |
probably null |
Het |
Slco2a1 |
T |
A |
9: 102,927,365 (GRCm39) |
I86N |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,812,235 (GRCm39) |
S19T |
probably benign |
Het |
Stk32a |
T |
C |
18: 43,438,082 (GRCm39) |
S194P |
probably benign |
Het |
Syna |
G |
A |
5: 134,588,424 (GRCm39) |
S175L |
possibly damaging |
Het |
Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
Tmem151b |
T |
C |
17: 45,858,045 (GRCm39) |
Y67C |
probably damaging |
Het |
Tshz1 |
C |
T |
18: 84,033,592 (GRCm39) |
R272Q |
probably damaging |
Het |
Tti1 |
A |
G |
2: 157,850,115 (GRCm39) |
S375P |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,873,636 (GRCm39) |
K73E |
probably damaging |
Het |
Vmn1r202 |
C |
T |
13: 22,685,920 (GRCm39) |
V166I |
probably benign |
Het |
Vmn2r10 |
A |
G |
5: 109,154,286 (GRCm39) |
V6A |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,307,107 (GRCm39) |
D111G |
probably damaging |
Het |
Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
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 |
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 |
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'- AATCCCTCTTCCGGTCAATGG -3'
(R):5'- ATGAAGTTCGGTGAGTATGACTTC -3'
Sequencing Primer
(F):5'- CAATGGCAGTCTCAGTAACACTGTG -3'
(R):5'- TCGGCTACACGCTTCAAAGAAATTG -3'
|
Posted On |
2016-06-15 |