Incidental Mutation 'R4642:Gm973'
| ID |
351667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm973
|
| Ensembl Gene |
ENSMUSG00000047361 |
| Gene Name |
predicted gene 973 |
| Synonyms |
LOC381260 |
| MMRRC Submission |
041904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R4642 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59555423-59675576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59597273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 434
(E434D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114243]
|
| AlphaFold |
E9Q295 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114243
AA Change: E434D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361
AA Change: E434D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
Pfam:DUF4670
|
583 |
1045 |
7.3e-160 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187979
|
| Meta Mutation Damage Score |
0.1009 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
T |
C |
8: 80,415,982 (GRCm39) |
T387A |
probably damaging |
Het |
| Acaca |
A |
T |
11: 84,171,287 (GRCm39) |
T3S |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,308,920 (GRCm39) |
I1631T |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,424,654 (GRCm39) |
|
probably benign |
Het |
| Ccdc184 |
T |
G |
15: 98,066,537 (GRCm39) |
V114G |
probably benign |
Het |
| Cpxm2 |
C |
T |
7: 131,672,610 (GRCm39) |
R313H |
probably benign |
Het |
| Crebrf |
G |
T |
17: 26,962,035 (GRCm39) |
E377D |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,618,118 (GRCm39) |
F176L |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,387,385 (GRCm39) |
D947G |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,289,791 (GRCm39) |
I750T |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm16391 |
T |
G |
17: 76,591,826 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac7 |
T |
C |
15: 97,704,397 (GRCm39) |
E491G |
probably damaging |
Het |
| Hyal5 |
A |
G |
6: 24,876,621 (GRCm39) |
N165D |
probably benign |
Het |
| Ly86 |
A |
T |
13: 37,560,877 (GRCm39) |
R79S |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,381,727 (GRCm39) |
I13T |
probably damaging |
Het |
| Medag |
T |
A |
5: 149,335,444 (GRCm39) |
M1K |
probably null |
Het |
| Myh9 |
T |
C |
15: 77,646,151 (GRCm39) |
D1944G |
probably benign |
Het |
| Nadk2 |
T |
C |
15: 9,092,810 (GRCm39) |
W206R |
possibly damaging |
Het |
| Or7g18 |
T |
A |
9: 18,787,463 (GRCm39) |
M280K |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,021 (GRCm39) |
F117Y |
probably benign |
Het |
| Pdzd8 |
C |
T |
19: 59,293,662 (GRCm39) |
E396K |
probably damaging |
Het |
| Piezo1 |
T |
A |
8: 123,222,193 (GRCm39) |
Y541F |
probably damaging |
Het |
| Polr3h |
T |
C |
15: 81,806,667 (GRCm39) |
I51V |
probably benign |
Het |
| Prune2 |
T |
C |
19: 16,998,019 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rars2 |
T |
G |
4: 34,656,229 (GRCm39) |
V461G |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,805,443 (GRCm39) |
C145R |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,785,463 (GRCm39) |
T1743A |
possibly damaging |
Het |
| Sac3d1 |
G |
A |
19: 6,166,434 (GRCm39) |
A325V |
possibly damaging |
Het |
| Shank1 |
A |
T |
7: 43,962,565 (GRCm39) |
D93V |
unknown |
Het |
| Smg1 |
T |
C |
7: 117,753,487 (GRCm39) |
|
probably benign |
Het |
| Tbl1xr1 |
A |
T |
3: 22,242,584 (GRCm39) |
N38I |
probably damaging |
Het |
| Ufc1 |
A |
G |
1: 171,117,467 (GRCm39) |
I82T |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,272,347 (GRCm39) |
M434K |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,710,873 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,462,450 (GRCm39) |
T910S |
unknown |
Het |
| Zfp64 |
A |
G |
2: 168,776,851 (GRCm39) |
C256R |
probably benign |
Het |
|
| Other mutations in Gm973 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Gm973
|
APN |
1 |
59,669,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01732:Gm973
|
APN |
1 |
59,669,396 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02124:Gm973
|
APN |
1 |
59,621,632 (GRCm39) |
nonsense |
probably null |
|
|
IGL02251:Gm973
|
APN |
1 |
59,621,582 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02818:Gm973
|
APN |
1 |
59,580,634 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03385:Gm973
|
APN |
1 |
59,621,629 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0105:Gm973
|
UTSW |
1 |
59,621,633 (GRCm39) |
missense |
probably null |
0.60 |
|
R0105:Gm973
|
UTSW |
1 |
59,621,633 (GRCm39) |
missense |
probably null |
0.60 |
|
R0280:Gm973
|
UTSW |
1 |
59,583,839 (GRCm39) |
frame shift |
probably null |
|
|
R0490:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
|
R0491:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Gm973
|
UTSW |
1 |
59,621,649 (GRCm39) |
splice site |
probably benign |
|
|
R0636:Gm973
|
UTSW |
1 |
59,590,303 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0709:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
|
R0900:Gm973
|
UTSW |
1 |
59,605,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1758:Gm973
|
UTSW |
1 |
59,673,169 (GRCm39) |
missense |
unknown |
|
|
R1816:Gm973
|
UTSW |
1 |
59,621,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1975:Gm973
|
UTSW |
1 |
59,601,930 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2166:Gm973
|
UTSW |
1 |
59,565,898 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3052:Gm973
|
UTSW |
1 |
59,672,299 (GRCm39) |
splice site |
probably benign |
|
|
R3899:Gm973
|
UTSW |
1 |
59,664,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4181:Gm973
|
UTSW |
1 |
59,590,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4302:Gm973
|
UTSW |
1 |
59,590,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4623:Gm973
|
UTSW |
1 |
59,595,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Gm973
|
UTSW |
1 |
59,591,713 (GRCm39) |
nonsense |
probably null |
|
|
R4920:Gm973
|
UTSW |
1 |
59,666,725 (GRCm39) |
missense |
probably benign |
|
|
R4951:Gm973
|
UTSW |
1 |
59,580,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5214:Gm973
|
UTSW |
1 |
59,565,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Gm973
|
UTSW |
1 |
59,601,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5472:Gm973
|
UTSW |
1 |
59,667,446 (GRCm39) |
splice site |
probably null |
|
|
R5554:Gm973
|
UTSW |
1 |
59,566,131 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5709:Gm973
|
UTSW |
1 |
59,591,714 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5886:Gm973
|
UTSW |
1 |
59,597,409 (GRCm39) |
intron |
probably benign |
|
|
R6044:Gm973
|
UTSW |
1 |
59,667,393 (GRCm39) |
missense |
probably benign |
|
|
R6046:Gm973
|
UTSW |
1 |
59,671,509 (GRCm39) |
missense |
unknown |
|
|
R6818:Gm973
|
UTSW |
1 |
59,669,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6920:Gm973
|
UTSW |
1 |
59,591,620 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6999:Gm973
|
UTSW |
1 |
59,673,251 (GRCm39) |
missense |
unknown |
|
|
R7214:Gm973
|
UTSW |
1 |
59,601,888 (GRCm39) |
nonsense |
probably null |
|
|
R7418:Gm973
|
UTSW |
1 |
59,565,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Gm973
|
UTSW |
1 |
59,597,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8834:Gm973
|
UTSW |
1 |
59,563,820 (GRCm39) |
missense |
|
|
|
R9083:Gm973
|
UTSW |
1 |
59,675,317 (GRCm39) |
missense |
|
|
|
R9206:Gm973
|
UTSW |
1 |
59,591,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9297:Gm973
|
UTSW |
1 |
59,583,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9519:Gm973
|
UTSW |
1 |
59,580,611 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9701:Gm973
|
UTSW |
1 |
59,566,032 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1176:Gm973
|
UTSW |
1 |
59,563,761 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Gm973
|
UTSW |
1 |
59,580,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCTGTTTGGAATTCTTGCAAG -3'
(R):5'- AGCTGCTGCCTGAATAACAG -3'
Sequencing Primer
(F):5'- TGCCCTGGAACTAATCGCTATGG -3'
(R):5'- ATGGACTAACCTCCCTGGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation