Incidental Mutation 'R6932:Gm4787'
| ID |
540116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
045047-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6932 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81379200 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 61
(D61E)
|
| 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: D61E
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: D61E
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
98% (80/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932443I19Rik |
CA |
CAA |
8: 13,734,865 (GRCm38) |
|
probably null |
Het |
| Acads |
A |
T |
5: 115,112,272 (GRCm38) |
F198I |
probably damaging |
Het |
| Acy1 |
A |
G |
9: 106,437,627 (GRCm38) |
|
probably null |
Het |
| Adk |
A |
G |
14: 21,076,308 (GRCm38) |
M1V |
probably null |
Het |
| Ahi1 |
A |
G |
10: 20,963,691 (GRCm38) |
D167G |
probably benign |
Het |
| Ankrd16 |
T |
C |
2: 11,786,243 (GRCm38) |
V290A |
possibly damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,274,417 (GRCm38) |
S701T |
possibly damaging |
Het |
| Atp13a5 |
C |
A |
16: 29,281,951 (GRCm38) |
M673I |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,978,928 (GRCm38) |
D78G |
possibly damaging |
Het |
| Bcat2 |
C |
T |
7: 45,589,321 (GRCm38) |
H347Y |
probably damaging |
Het |
| Bpifb4 |
A |
G |
2: 153,942,627 (GRCm38) |
Y85C |
possibly damaging |
Het |
| Cdc42 |
T |
A |
4: 137,322,621 (GRCm38) |
|
probably null |
Het |
| Cep170 |
G |
A |
1: 176,761,437 (GRCm38) |
L541F |
possibly damaging |
Het |
| Cgrrf1 |
T |
A |
14: 46,853,722 (GRCm38) |
N234K |
probably benign |
Het |
| Ctrc |
C |
T |
4: 141,841,568 (GRCm38) |
C108Y |
probably damaging |
Het |
| Cyp2u1 |
C |
T |
3: 131,298,296 (GRCm38) |
V192M |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 109,552,675 (GRCm38) |
L1013Q |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,287,776 (GRCm38) |
N1945I |
probably damaging |
Het |
| Dnah10 |
C |
G |
5: 124,821,450 (GRCm38) |
N3765K |
possibly damaging |
Het |
| Dnah17 |
C |
A |
11: 118,060,079 (GRCm38) |
R2906L |
possibly damaging |
Het |
| Dnajc10 |
C |
T |
2: 80,331,336 (GRCm38) |
T306I |
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,480,245 (GRCm38) |
C287S |
probably damaging |
Het |
| Efna1 |
T |
C |
3: 89,272,784 (GRCm38) |
R143G |
probably benign |
Het |
| Emilin1 |
A |
C |
5: 30,917,077 (GRCm38) |
N221H |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 77,948,609 (GRCm38) |
T174A |
probably benign |
Het |
| Fam184b |
T |
A |
5: 45,532,901 (GRCm38) |
|
probably null |
Het |
| Fchsd2 |
T |
A |
7: 101,277,414 (GRCm38) |
C570* |
probably null |
Het |
| Gm7356 |
C |
T |
17: 14,001,663 (GRCm38) |
G35R |
probably damaging |
Het |
| Gm8220 |
A |
G |
14: 44,288,188 (GRCm38) |
T20A |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,128,501 (GRCm38) |
T281M |
probably damaging |
Het |
| Ighv2-9-1 |
A |
G |
12: 113,770,072 (GRCm38) |
V43A |
probably damaging |
Het |
| Klhl33 |
A |
T |
14: 50,891,916 (GRCm38) |
C619S |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,829,261 (GRCm38) |
|
probably benign |
Het |
| Lax1 |
A |
G |
1: 133,680,158 (GRCm38) |
C282R |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,851,395 (GRCm38) |
K567E |
probably benign |
Het |
| Luzp1 |
C |
T |
4: 136,540,813 (GRCm38) |
R116* |
probably null |
Het |
| Lypd3 |
G |
C |
7: 24,638,433 (GRCm38) |
G75R |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,419,913 (GRCm38) |
N38I |
probably damaging |
Het |
| Map3k14 |
A |
T |
11: 103,242,132 (GRCm38) |
I80N |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,620,203 (GRCm38) |
S368P |
probably benign |
Het |
| Mfge8 |
T |
C |
7: 79,143,301 (GRCm38) |
D139G |
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,791,654 (GRCm38) |
I54F |
probably benign |
Het |
| Myo15 |
G |
T |
11: 60,499,494 (GRCm38) |
W2114L |
probably damaging |
Het |
| Myo1a |
G |
T |
10: 127,710,458 (GRCm38) |
V277L |
probably benign |
Het |
| Myoc |
A |
G |
1: 162,639,346 (GRCm38) |
D28G |
probably damaging |
Het |
| Myrf |
G |
T |
19: 10,219,560 (GRCm38) |
N487K |
probably damaging |
Het |
| Olfr1093 |
C |
G |
2: 86,786,155 (GRCm38) |
L142V |
probably damaging |
Het |
| Olfr429 |
G |
A |
1: 174,089,750 (GRCm38) |
A237T |
probably damaging |
Het |
| Olfr703 |
G |
T |
7: 106,844,802 (GRCm38) |
G64* |
probably null |
Het |
| Omd |
T |
A |
13: 49,590,234 (GRCm38) |
F253L |
probably damaging |
Het |
| Papss1 |
T |
G |
3: 131,599,971 (GRCm38) |
I238S |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,562,451 (GRCm38) |
F580Y |
probably benign |
Het |
| Polk |
T |
A |
13: 96,516,681 (GRCm38) |
K70N |
probably damaging |
Het |
| Ppig |
T |
A |
2: 69,732,411 (GRCm38) |
D31E |
probably benign |
Het |
| Ppp6r1 |
G |
T |
7: 4,633,292 (GRCm38) |
S766R |
possibly damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,341,558 (GRCm38) |
D783G |
probably benign |
Het |
| Reln |
T |
C |
5: 21,985,857 (GRCm38) |
I1511V |
probably benign |
Het |
| Rnh1 |
T |
C |
7: 141,163,183 (GRCm38) |
N268S |
probably damaging |
Het |
| Rpia |
A |
G |
6: 70,773,440 (GRCm38) |
V236A |
probably benign |
Het |
| Rpl10a |
G |
T |
17: 28,329,450 (GRCm38) |
V80L |
probably benign |
Het |
| Sap130 |
T |
G |
18: 31,666,354 (GRCm38) |
S295A |
possibly damaging |
Het |
| Sgms1 |
C |
T |
19: 32,142,793 (GRCm38) |
V238I |
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,707,434 (GRCm38) |
S470P |
probably benign |
Het |
| Slc25a32 |
A |
G |
15: 39,097,589 (GRCm38) |
V233A |
possibly damaging |
Het |
| Slc2a2 |
T |
C |
3: 28,717,519 (GRCm38) |
S158P |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 92,996,025 (GRCm38) |
Y550C |
probably benign |
Het |
| Slc7a9 |
C |
A |
7: 35,452,511 (GRCm38) |
T77K |
probably benign |
Het |
| Snd1 |
A |
T |
6: 28,626,101 (GRCm38) |
D385V |
probably benign |
Het |
| Ssh3 |
A |
T |
19: 4,264,420 (GRCm38) |
F369I |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,612,459 (GRCm38) |
|
probably null |
Het |
| Tbc1d16 |
A |
G |
11: 119,208,916 (GRCm38) |
S211P |
probably damaging |
Het |
| Ttc3 |
A |
G |
16: 94,443,453 (GRCm38) |
T1439A |
probably benign |
Het |
| Usp18 |
A |
G |
6: 121,252,514 (GRCm38) |
M31V |
probably benign |
Het |
| Vav1 |
G |
T |
17: 57,302,330 (GRCm38) |
E415D |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,678,075 (GRCm38) |
V1863D |
probably benign |
Het |
| Xdh |
T |
A |
17: 73,922,562 (GRCm38) |
I299F |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,771,077 (GRCm38) |
|
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,473,411 (GRCm38) |
H69Y |
probably damaging |
Het |
| Zfp652 |
G |
T |
11: 95,763,841 (GRCm38) |
V357L |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,040,827 (GRCm38) |
Y545* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,559,632 (GRCm38) |
|
probably null |
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 |
|
R5028:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- ATCATGCCTTTCAGACCTCCAG -3'
(R):5'- GACCACCTACCTGGACTTTG -3'
Sequencing Primer
(F):5'- ACTCCTTCCAGGTAGCTGTAGAAG -3'
(R):5'- ACTTTGGCCCTCCTGAGAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation