Incidental Mutation 'R5028:Gm4787'
| ID |
391527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
042619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5028 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 81377830 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 518
(T518S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
| AlphaFold |
B2RUD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062182
AA Change: T518S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: T518S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
46 |
163 |
1.5e-19 |
PFAM |
|
Pfam:Reprolysin
|
213 |
406 |
4.6e-18 |
PFAM |
|
DISIN
|
425 |
500 |
2e-33 |
SMART |
|
ACR
|
501 |
644 |
2.83e-53 |
SMART |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000087222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110340
|
| SMART Domains |
Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
74 |
6.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164386
|
| SMART Domains |
Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
21 |
100 |
6.16e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166723
|
| SMART Domains |
Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
73 |
6.9e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,274,012 (GRCm38) |
S777C |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,537,710 (GRCm38) |
|
probably null |
Het |
| Arhgap17 |
T |
A |
7: 123,294,673 (GRCm38) |
H508L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 122,010,060 (GRCm38) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,386,978 (GRCm38) |
F961S |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 141,068,062 (GRCm38) |
P497Q |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,944,556 (GRCm38) |
S364P |
probably damaging |
Het |
| Ccdc150 |
C |
A |
1: 54,263,477 (GRCm38) |
D85E |
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,795,180 (GRCm38) |
Y291H |
probably benign |
Het |
| Comp |
A |
C |
8: 70,376,640 (GRCm38) |
N289T |
probably damaging |
Het |
| Cops3 |
T |
A |
11: 59,818,030 (GRCm38) |
|
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,998,212 (GRCm38) |
H967Y |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 15,989,090 (GRCm38) |
F2423I |
probably damaging |
Het |
| Dact1 |
C |
A |
12: 71,318,573 (GRCm38) |
C709* |
probably null |
Het |
| Dcxr |
T |
G |
11: 120,726,447 (GRCm38) |
Q90P |
probably damaging |
Het |
| Ell |
A |
G |
8: 70,590,699 (GRCm38) |
Y494C |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,274,732 (GRCm38) |
E333G |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 19,179,447 (GRCm38) |
|
probably null |
Het |
| Fam186b |
T |
A |
15: 99,280,801 (GRCm38) |
M215L |
probably damaging |
Het |
| Gm17078 |
T |
A |
14: 51,611,242 (GRCm38) |
R13W |
probably null |
Het |
| Hspa14 |
A |
G |
2: 3,498,169 (GRCm38) |
F196S |
possibly damaging |
Het |
| Ier5 |
A |
G |
1: 155,099,103 (GRCm38) |
S110P |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 93,054,327 (GRCm38) |
I793F |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,508,113 (GRCm38) |
I643T |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,823,232 (GRCm38) |
L794Q |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,108,936 (GRCm38) |
M36L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,985,029 (GRCm38) |
L693Q |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,958,124 (GRCm38) |
E148V |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,703,137 (GRCm38) |
N162S |
possibly damaging |
Het |
| Nlgn2 |
T |
C |
11: 69,827,737 (GRCm38) |
D339G |
probably benign |
Het |
| Nucks1 |
C |
T |
1: 131,928,102 (GRCm38) |
R90C |
possibly damaging |
Het |
| Olfr1431 |
T |
A |
19: 12,210,154 (GRCm38) |
V196E |
possibly damaging |
Het |
| Olfr740 |
T |
C |
14: 50,453,739 (GRCm38) |
V229A |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,692,949 (GRCm38) |
D24V |
probably damaging |
Het |
| Prpf4b |
C |
T |
13: 34,899,975 (GRCm38) |
P909L |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,302,004 (GRCm38) |
K116* |
probably null |
Het |
| Ror1 |
A |
G |
4: 100,411,936 (GRCm38) |
T324A |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,264,370 (GRCm38) |
G505R |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,649,273 (GRCm38) |
I112T |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,461,445 (GRCm38) |
S69G |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,458,447 (GRCm38) |
E429D |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,663,312 (GRCm38) |
D116G |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 136,257,935 (GRCm38) |
V154E |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,211,220 (GRCm38) |
W357* |
probably null |
Het |
| Tmem177 |
T |
A |
1: 119,910,689 (GRCm38) |
T87S |
probably benign |
Het |
| Treh |
A |
T |
9: 44,682,889 (GRCm38) |
E144V |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,786,760 (GRCm38) |
D243E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,778,050 (GRCm38) |
D17843G |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,659,473 (GRCm38) |
|
probably null |
Het |
| Vmn1r201 |
G |
A |
13: 22,475,360 (GRCm38) |
W248* |
probably null |
Het |
| Yap1 |
T |
C |
9: 8,001,689 (GRCm38) |
T99A |
probably benign |
Het |
| Zbtb8b |
C |
A |
4: 129,433,000 (GRCm38) |
C91F |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 71,914,654 (GRCm38) |
T442A |
possibly damaging |
Het |
| Zxdc |
G |
T |
6: 90,382,338 (GRCm38) |
G651C |
probably benign |
Het |
|
| Other mutations in Gm4787 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01719:Gm4787
|
APN |
12 |
81,377,174 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01916:Gm4787
|
APN |
12 |
81,377,444 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL02193:Gm4787
|
APN |
12 |
81,378,528 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02623:Gm4787
|
APN |
12 |
81,378,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02681:Gm4787
|
APN |
12 |
81,378,769 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03257:Gm4787
|
APN |
12 |
81,378,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03410:Gm4787
|
APN |
12 |
81,379,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
F5770:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
PIT4362001:Gm4787
|
UTSW |
12 |
81,377,175 (GRCm38) |
missense |
probably benign |
|
|
R0070:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0128:Gm4787
|
UTSW |
12 |
81,377,747 (GRCm38) |
nonsense |
probably null |
|
|
R0220:Gm4787
|
UTSW |
12 |
81,378,648 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0304:Gm4787
|
UTSW |
12 |
81,378,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0513:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1761:Gm4787
|
UTSW |
12 |
81,377,176 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1809:Gm4787
|
UTSW |
12 |
81,378,529 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1853:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1854:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2030:Gm4787
|
UTSW |
12 |
81,378,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2063:Gm4787
|
UTSW |
12 |
81,378,920 (GRCm38) |
missense |
probably benign |
0.39 |
|
R2112:Gm4787
|
UTSW |
12 |
81,377,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2140:Gm4787
|
UTSW |
12 |
81,378,562 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2151:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2152:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2342:Gm4787
|
UTSW |
12 |
81,378,758 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2504:Gm4787
|
UTSW |
12 |
81,379,137 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4038:Gm4787
|
UTSW |
12 |
81,378,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4604:Gm4787
|
UTSW |
12 |
81,379,213 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4748:Gm4787
|
UTSW |
12 |
81,378,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4750:Gm4787
|
UTSW |
12 |
81,378,367 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4928:Gm4787
|
UTSW |
12 |
81,378,838 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4960:Gm4787
|
UTSW |
12 |
81,379,316 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4974:Gm4787
|
UTSW |
12 |
81,377,629 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5029:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5031:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5098:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5099:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5100:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5101:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5135:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5152:Gm4787
|
UTSW |
12 |
81,378,677 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5180:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5220:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5257:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5258:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5297:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5324:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5325:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5355:Gm4787
|
UTSW |
12 |
81,377,465 (GRCm38) |
nonsense |
probably null |
|
|
R5364:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5396:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5397:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5398:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5514:Gm4787
|
UTSW |
12 |
81,378,328 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5634:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5666:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5670:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5787:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5788:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6354:Gm4787
|
UTSW |
12 |
81,377,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6932:Gm4787
|
UTSW |
12 |
81,379,200 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7120:Gm4787
|
UTSW |
12 |
81,378,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7237:Gm4787
|
UTSW |
12 |
81,377,668 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7937:Gm4787
|
UTSW |
12 |
81,377,905 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8022:Gm4787
|
UTSW |
12 |
81,377,720 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8140:Gm4787
|
UTSW |
12 |
81,378,151 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8314:Gm4787
|
UTSW |
12 |
81,379,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8480:Gm4787
|
UTSW |
12 |
81,377,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8498:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8515:Gm4787
|
UTSW |
12 |
81,377,269 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9103:Gm4787
|
UTSW |
12 |
81,378,715 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9457:Gm4787
|
UTSW |
12 |
81,379,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9557:Gm4787
|
UTSW |
12 |
81,379,300 (GRCm38) |
nonsense |
probably null |
|
|
R9608:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
|
V7580:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
V7581:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
V7582:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACGCTTGACACCATCACAGTG -3'
(R):5'- CAGGGCAGCTCTTGTAATAAAGG -3'
Sequencing Primer
(F):5'- CCATCACAGTGGAGCATTCC -3'
(R):5'- CAGCTCTTGTAATAAAGGAGGTTGC -3'
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| Posted On |
2016-06-06 |
Incidental Mutation