Incidental Mutation 'R7120:Gm4787'
| ID |
551953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
045209-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 81378486 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 299
(M299I)
|
| 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: M299I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: M299I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
A |
T |
3: 36,481,867 (GRCm38) |
Q94L |
unknown |
Het |
| 4933411K16Rik |
C |
T |
19: 42,052,673 (GRCm38) |
A81V |
probably benign |
Het |
| Actr3 |
A |
C |
1: 125,403,432 (GRCm38) |
Y273* |
probably null |
Het |
| Aoc1 |
T |
A |
6: 48,906,597 (GRCm38) |
I469N |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 97,944,539 (GRCm38) |
L1270Q |
probably damaging |
Het |
| Atp2c1 |
G |
A |
9: 105,420,186 (GRCm38) |
Q780* |
probably null |
Het |
| Bbs10 |
T |
C |
10: 111,299,449 (GRCm38) |
V141A |
possibly damaging |
Het |
| Bivm |
A |
T |
1: 44,126,446 (GRCm38) |
T19S |
probably benign |
Het |
| Cacna1h |
T |
G |
17: 25,391,507 (GRCm38) |
H675P |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,439,919 (GRCm38) |
L1204F |
probably damaging |
Het |
| Cald1 |
T |
C |
6: 34,686,076 (GRCm38) |
|
probably null |
Het |
| Calr |
A |
G |
8: 84,842,828 (GRCm38) |
M357T |
probably damaging |
Het |
| Ccni |
A |
T |
5: 93,183,331 (GRCm38) |
Y260* |
probably null |
Het |
| Csrnp3 |
C |
A |
2: 66,023,010 (GRCm38) |
T594K |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,100,183 (GRCm38) |
M152K |
unknown |
Het |
| Depdc1b |
T |
C |
13: 108,362,247 (GRCm38) |
W155R |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,297,561 (GRCm38) |
K315R |
probably benign |
Het |
| Epn3 |
C |
A |
11: 94,492,428 (GRCm38) |
R323S |
probably benign |
Het |
| Fam57b |
T |
C |
7: 126,829,333 (GRCm38) |
L221P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,372,486 (GRCm38) |
N340Y |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,040,533 (GRCm38) |
K891* |
probably null |
Het |
| Fras1 |
G |
T |
5: 96,752,960 (GRCm38) |
G3013* |
probably null |
Het |
| Gbp2b |
A |
G |
3: 142,606,746 (GRCm38) |
T297A |
probably benign |
Het |
| Gbp7 |
T |
C |
3: 142,543,973 (GRCm38) |
S402P |
probably damaging |
Het |
| Gclc |
T |
C |
9: 77,786,750 (GRCm38) |
Y329H |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,087,393 (GRCm38) |
H655R |
probably benign |
Het |
| Grb7 |
C |
A |
11: 98,454,991 (GRCm38) |
R532S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,700,541 (GRCm38) |
I2066N |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,034,057 (GRCm38) |
T518A |
probably benign |
Het |
| Hps3 |
G |
A |
3: 20,011,541 (GRCm38) |
R712W |
probably damaging |
Het |
| Hspd1 |
A |
G |
1: 55,079,229 (GRCm38) |
V406A |
probably benign |
Het |
| Igkv2-112 |
T |
C |
6: 68,220,526 (GRCm38) |
F61L |
probably benign |
Het |
| Iqcf5 |
G |
A |
9: 106,515,796 (GRCm38) |
R84H |
probably damaging |
Het |
| Itgad |
T |
A |
7: 128,173,974 (GRCm38) |
M1K |
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,861,065 (GRCm38) |
S1292P |
unknown |
Het |
| Macc1 |
C |
A |
12: 119,445,745 (GRCm38) |
Q83K |
possibly damaging |
Het |
| Map3k4 |
G |
T |
17: 12,271,467 (GRCm38) |
A359E |
probably damaging |
Het |
| Mfap3 |
T |
A |
11: 57,528,217 (GRCm38) |
C68S |
probably damaging |
Het |
| Mipep |
C |
T |
14: 60,875,247 (GRCm38) |
R660C |
possibly damaging |
Het |
| Morc2b |
A |
T |
17: 33,135,813 (GRCm38) |
L995Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,308,697 (GRCm38) |
N913S |
probably damaging |
Het |
| N4bp1 |
C |
A |
8: 86,860,867 (GRCm38) |
C481F |
probably benign |
Het |
| Nae1 |
A |
G |
8: 104,526,278 (GRCm38) |
|
probably null |
Het |
| Nup214 |
T |
A |
2: 32,051,042 (GRCm38) |
V29E |
probably benign |
Het |
| Olfr251 |
T |
C |
9: 38,378,649 (GRCm38) |
L250P |
probably damaging |
Het |
| Olfr390 |
A |
T |
11: 73,787,114 (GRCm38) |
M59L |
probably damaging |
Het |
| Orai1 |
A |
G |
5: 123,029,472 (GRCm38) |
E236G |
possibly damaging |
Het |
| P2rx7 |
A |
G |
5: 122,681,294 (GRCm38) |
Y593C |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,474,678 (GRCm38) |
D77G |
possibly damaging |
Het |
| Pcdha8 |
G |
A |
18: 36,993,787 (GRCm38) |
V441M |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm38) |
|
probably benign |
Het |
| Plaa |
A |
G |
4: 94,582,682 (GRCm38) |
S406P |
possibly damaging |
Het |
| Plekhh1 |
C |
A |
12: 79,070,939 (GRCm38) |
P903Q |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,168,238 (GRCm38) |
E92G |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 57,059,882 (GRCm38) |
F463S |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,872,056 (GRCm38) |
E337A |
probably benign |
Het |
| Rubcn |
C |
T |
16: 32,836,469 (GRCm38) |
R527Q |
probably damaging |
Het |
| Samd3 |
C |
T |
10: 26,230,966 (GRCm38) |
T73M |
possibly damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,852,039 (GRCm38) |
K173* |
probably null |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,656,691 (GRCm38) |
|
probably benign |
Het |
| Son |
T |
G |
16: 91,670,526 (GRCm38) |
N2258K |
unknown |
Het |
| Sspo |
A |
T |
6: 48,465,571 (GRCm38) |
H2000L |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,293,971 (GRCm38) |
S2731N |
probably benign |
Het |
| Syt6 |
T |
C |
3: 103,587,357 (GRCm38) |
Y213H |
probably damaging |
Het |
| Tkt |
A |
G |
14: 30,559,822 (GRCm38) |
N99S |
probably benign |
Het |
| Tmem258 |
G |
A |
19: 10,204,238 (GRCm38) |
|
probably benign |
Het |
| Tnks1bp1 |
T |
C |
2: 85,072,097 (GRCm38) |
S1702P |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,327,673 (GRCm38) |
D225G |
probably damaging |
Het |
| Trak1 |
T |
A |
9: 121,460,498 (GRCm38) |
F625L |
probably benign |
Het |
| Ttc33 |
G |
T |
15: 5,212,007 (GRCm38) |
C77F |
probably benign |
Het |
| Ugt1a2 |
A |
G |
1: 88,200,800 (GRCm38) |
H55R |
probably damaging |
Het |
| Vmn1r169 |
G |
T |
7: 23,578,019 (GRCm38) |
V279L |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,828,435 (GRCm38) |
K488E |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,808,638 (GRCm38) |
D39E |
possibly damaging |
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 |
|
R6932:Gm4787
|
UTSW |
12 |
81,379,200 (GRCm38) |
missense |
probably benign |
0.04 |
|
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'- TGTATCATGCCTCACATTCAGAAG -3'
(R):5'- TGGGAGCAATTCAACTGCCTC -3'
Sequencing Primer
(F):5'- TTCAGAAGGTGACCCACTGCATG -3'
(R):5'- GGAGCAATTCAACTGCCTCAATTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation