Incidental Mutation 'R5396:Gm4787'
ID |
429698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4787
|
Ensembl Gene |
ENSMUSG00000072974 |
Gene Name |
predicted gene 4787 |
Synonyms |
|
MMRRC Submission |
044394-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R5396 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81423765-81426238 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 81424604 bp (GRCm39)
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
T |
C |
2: 127,028,873 (GRCm39) |
T109A |
probably damaging |
Het |
A430005L14Rik |
GCC |
G |
4: 154,045,410 (GRCm39) |
|
probably null |
Het |
Actr1a |
T |
C |
19: 46,384,103 (GRCm39) |
D5G |
possibly damaging |
Het |
Adra2c |
A |
G |
5: 35,438,217 (GRCm39) |
T330A |
probably benign |
Het |
Ahcyl2 |
C |
T |
6: 29,859,697 (GRCm39) |
|
probably benign |
Het |
Ahnak |
T |
C |
19: 8,984,539 (GRCm39) |
V1941A |
probably damaging |
Het |
Akr1b7 |
G |
A |
6: 34,389,411 (GRCm39) |
|
probably null |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,746,875 (GRCm39) |
V570A |
probably damaging |
Het |
Ano4 |
T |
C |
10: 88,948,702 (GRCm39) |
E302G |
probably damaging |
Het |
Bop1 |
A |
T |
15: 76,339,489 (GRCm39) |
H285Q |
probably damaging |
Het |
Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,560,543 (GRCm39) |
I845L |
possibly damaging |
Het |
Ccdc28b |
G |
T |
4: 129,513,238 (GRCm39) |
Q184K |
probably damaging |
Het |
Cd101 |
A |
G |
3: 100,926,126 (GRCm39) |
S198P |
probably damaging |
Het |
Cdc7 |
A |
T |
5: 107,117,163 (GRCm39) |
|
probably null |
Het |
Cdhr2 |
A |
G |
13: 54,884,269 (GRCm39) |
D1268G |
probably benign |
Het |
Celsr3 |
C |
T |
9: 108,705,781 (GRCm39) |
R755W |
probably damaging |
Het |
Chrnb1 |
T |
A |
11: 69,684,979 (GRCm39) |
N117I |
probably damaging |
Het |
Chst11 |
C |
A |
10: 83,027,083 (GRCm39) |
P170Q |
probably damaging |
Het |
Clca3b |
A |
G |
3: 144,552,932 (GRCm39) |
Y98H |
probably damaging |
Het |
Crnkl1 |
A |
G |
2: 145,770,132 (GRCm39) |
V237A |
possibly damaging |
Het |
Ctnnbl1 |
G |
A |
2: 157,659,752 (GRCm39) |
|
probably null |
Het |
Dbndd1 |
C |
A |
8: 124,236,582 (GRCm39) |
R95S |
probably damaging |
Het |
Ddx3y |
A |
G |
Y: 1,265,965 (GRCm39) |
V344A |
probably damaging |
Het |
Defb30 |
A |
T |
14: 63,273,559 (GRCm39) |
|
probably null |
Het |
Dennd10 |
T |
C |
19: 60,823,274 (GRCm39) |
L303P |
probably benign |
Het |
Dnah17 |
C |
T |
11: 118,018,108 (GRCm39) |
R129Q |
probably benign |
Het |
Dnhd1 |
A |
T |
7: 105,362,891 (GRCm39) |
M3818L |
probably benign |
Het |
Dusp4 |
G |
T |
8: 35,284,458 (GRCm39) |
D258Y |
probably damaging |
Het |
E2f1 |
A |
T |
2: 154,406,368 (GRCm39) |
F103I |
probably benign |
Het |
Elavl2 |
T |
C |
4: 91,149,055 (GRCm39) |
Y248C |
probably damaging |
Het |
Ephb3 |
T |
C |
16: 21,037,855 (GRCm39) |
V310A |
possibly damaging |
Het |
Erbin |
A |
G |
13: 103,993,917 (GRCm39) |
|
probably null |
Het |
Etv4 |
A |
T |
11: 101,666,167 (GRCm39) |
H120Q |
probably damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,839,608 (GRCm39) |
F474L |
probably benign |
Het |
Flot2 |
T |
A |
11: 77,940,314 (GRCm39) |
C20* |
probably null |
Het |
Fsip2 |
G |
A |
2: 82,821,262 (GRCm39) |
G5665D |
probably benign |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Glrp1 |
TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG |
TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG |
1: 88,431,066 (GRCm39) |
|
probably benign |
Het |
Gm43302 |
A |
T |
5: 105,427,955 (GRCm39) |
L202* |
probably null |
Het |
Hnf1b |
A |
T |
11: 83,746,863 (GRCm39) |
M160L |
probably damaging |
Het |
Inhbe |
T |
C |
10: 127,186,470 (GRCm39) |
T237A |
possibly damaging |
Het |
Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
Kmt2c |
A |
T |
5: 25,499,732 (GRCm39) |
|
probably null |
Het |
Kyat3 |
A |
G |
3: 142,440,367 (GRCm39) |
K364E |
probably benign |
Het |
Lars1 |
T |
A |
18: 42,350,024 (GRCm39) |
T927S |
probably benign |
Het |
Mfap1b |
A |
T |
2: 121,304,371 (GRCm39) |
M8K |
probably benign |
Het |
Mroh8 |
G |
A |
2: 157,070,576 (GRCm39) |
P592S |
possibly damaging |
Het |
Myo3b |
A |
T |
2: 69,957,329 (GRCm39) |
I185L |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or1x6 |
C |
T |
11: 50,939,297 (GRCm39) |
A121V |
probably damaging |
Het |
Or4c110 |
A |
T |
2: 88,832,540 (GRCm39) |
L31M |
probably benign |
Het |
Or51a24 |
T |
C |
7: 103,734,098 (GRCm39) |
Y63C |
probably benign |
Het |
Pcdha8 |
T |
A |
18: 37,126,787 (GRCm39) |
V423E |
probably damaging |
Het |
Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
Pde8a |
T |
C |
7: 80,983,170 (GRCm39) |
V791A |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,795,920 (GRCm39) |
S657P |
probably benign |
Het |
Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
Rad51d |
A |
G |
11: 82,781,196 (GRCm39) |
V17A |
possibly damaging |
Het |
Sdc1 |
A |
T |
12: 8,841,743 (GRCm39) |
|
probably null |
Het |
Sdcbp2 |
T |
A |
2: 151,429,057 (GRCm39) |
I152N |
probably damaging |
Het |
Slc4a4 |
G |
T |
5: 89,194,076 (GRCm39) |
M141I |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Spata6 |
T |
C |
4: 111,656,315 (GRCm39) |
C320R |
probably damaging |
Het |
Spata6l |
T |
C |
19: 28,905,089 (GRCm39) |
H325R |
possibly damaging |
Het |
Ssu2 |
T |
A |
6: 112,357,957 (GRCm39) |
T129S |
probably damaging |
Het |
Stat5a |
T |
A |
11: 100,771,409 (GRCm39) |
W631R |
probably damaging |
Het |
Sult1c2 |
T |
A |
17: 54,143,939 (GRCm39) |
N122I |
possibly damaging |
Het |
Synpo2 |
G |
A |
3: 122,911,331 (GRCm39) |
Q105* |
probably null |
Het |
Tert |
G |
A |
13: 73,787,362 (GRCm39) |
V783I |
probably damaging |
Het |
Ticam1 |
G |
T |
17: 56,578,117 (GRCm39) |
T326K |
probably benign |
Het |
Tmem63b |
T |
C |
17: 45,980,888 (GRCm39) |
M269V |
possibly damaging |
Het |
Tmem86a |
T |
A |
7: 46,702,794 (GRCm39) |
V73E |
possibly damaging |
Het |
Trpv4 |
G |
A |
5: 114,761,675 (GRCm39) |
R818C |
possibly damaging |
Het |
Tstd2 |
A |
G |
4: 46,135,542 (GRCm39) |
S4P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,644,715 (GRCm39) |
V4686E |
probably damaging |
Het |
Ubash3b |
A |
G |
9: 40,954,769 (GRCm39) |
|
probably null |
Het |
Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
Usp33 |
A |
G |
3: 152,089,824 (GRCm39) |
E780G |
possibly damaging |
Het |
Vapb |
T |
A |
2: 173,613,336 (GRCm39) |
Y78* |
probably null |
Het |
Vps13b |
G |
A |
15: 35,887,094 (GRCm39) |
R3227Q |
probably damaging |
Het |
Vps33a |
A |
T |
5: 123,696,693 (GRCm39) |
I320N |
probably damaging |
Het |
Wnt5a |
T |
C |
14: 28,244,727 (GRCm39) |
C305R |
probably damaging |
Het |
Zbtb38 |
A |
G |
9: 96,569,696 (GRCm39) |
C463R |
probably damaging |
Het |
Zc3h12d |
G |
A |
10: 7,742,090 (GRCm39) |
C263Y |
probably damaging |
Het |
Zfp971 |
G |
A |
2: 177,675,526 (GRCm39) |
R375Q |
probably damaging |
Het |
Znrf1 |
T |
A |
8: 112,345,826 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Gm4787 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01719:Gm4787
|
APN |
12 |
81,423,948 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01916:Gm4787
|
APN |
12 |
81,424,218 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02193:Gm4787
|
APN |
12 |
81,425,302 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02623:Gm4787
|
APN |
12 |
81,425,502 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02681:Gm4787
|
APN |
12 |
81,425,543 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03257:Gm4787
|
APN |
12 |
81,424,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03410:Gm4787
|
APN |
12 |
81,425,948 (GRCm39) |
missense |
probably damaging |
1.00 |
F5770:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
PIT4362001:Gm4787
|
UTSW |
12 |
81,423,949 (GRCm39) |
missense |
probably benign |
|
R0070:Gm4787
|
UTSW |
12 |
81,425,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R0128:Gm4787
|
UTSW |
12 |
81,424,521 (GRCm39) |
nonsense |
probably null |
|
R0220:Gm4787
|
UTSW |
12 |
81,425,422 (GRCm39) |
missense |
probably damaging |
0.98 |
R0304:Gm4787
|
UTSW |
12 |
81,425,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R0513:Gm4787
|
UTSW |
12 |
81,425,086 (GRCm39) |
missense |
probably benign |
0.03 |
R1761:Gm4787
|
UTSW |
12 |
81,423,950 (GRCm39) |
missense |
probably benign |
0.02 |
R1809:Gm4787
|
UTSW |
12 |
81,425,303 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1853:Gm4787
|
UTSW |
12 |
81,425,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Gm4787
|
UTSW |
12 |
81,425,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R2030:Gm4787
|
UTSW |
12 |
81,425,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R2063:Gm4787
|
UTSW |
12 |
81,425,694 (GRCm39) |
missense |
probably benign |
0.39 |
R2112:Gm4787
|
UTSW |
12 |
81,424,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R2140:Gm4787
|
UTSW |
12 |
81,425,336 (GRCm39) |
missense |
probably benign |
0.03 |
R2151:Gm4787
|
UTSW |
12 |
81,423,993 (GRCm39) |
missense |
probably benign |
0.00 |
R2152:Gm4787
|
UTSW |
12 |
81,423,993 (GRCm39) |
missense |
probably benign |
0.00 |
R2342:Gm4787
|
UTSW |
12 |
81,425,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2504:Gm4787
|
UTSW |
12 |
81,425,911 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4038:Gm4787
|
UTSW |
12 |
81,425,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R4604:Gm4787
|
UTSW |
12 |
81,425,987 (GRCm39) |
missense |
probably benign |
0.17 |
R4748:Gm4787
|
UTSW |
12 |
81,424,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Gm4787
|
UTSW |
12 |
81,425,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4928:Gm4787
|
UTSW |
12 |
81,425,612 (GRCm39) |
missense |
probably benign |
0.03 |
R4960:Gm4787
|
UTSW |
12 |
81,426,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R4974:Gm4787
|
UTSW |
12 |
81,424,403 (GRCm39) |
missense |
probably damaging |
0.99 |
R5028:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5029:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5031:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5098:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5099:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5100:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5101:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5135:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5152:Gm4787
|
UTSW |
12 |
81,425,451 (GRCm39) |
missense |
probably benign |
0.02 |
R5180:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5220:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5257:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5258:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5297:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5324:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5325:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5355:Gm4787
|
UTSW |
12 |
81,424,239 (GRCm39) |
nonsense |
probably null |
|
R5364:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5397:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5398:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5514:Gm4787
|
UTSW |
12 |
81,425,102 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5634:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5666:Gm4787
|
UTSW |
12 |
81,424,805 (GRCm39) |
missense |
probably benign |
0.23 |
R5670:Gm4787
|
UTSW |
12 |
81,424,805 (GRCm39) |
missense |
probably benign |
0.23 |
R5787:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5788:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
R6354:Gm4787
|
UTSW |
12 |
81,424,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R6932:Gm4787
|
UTSW |
12 |
81,425,974 (GRCm39) |
missense |
probably benign |
0.04 |
R7120:Gm4787
|
UTSW |
12 |
81,425,260 (GRCm39) |
missense |
probably benign |
0.00 |
R7237:Gm4787
|
UTSW |
12 |
81,424,442 (GRCm39) |
missense |
probably damaging |
0.99 |
R7937:Gm4787
|
UTSW |
12 |
81,424,679 (GRCm39) |
missense |
probably benign |
0.01 |
R8022:Gm4787
|
UTSW |
12 |
81,424,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8140:Gm4787
|
UTSW |
12 |
81,424,925 (GRCm39) |
missense |
probably benign |
0.00 |
R8314:Gm4787
|
UTSW |
12 |
81,425,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R8480:Gm4787
|
UTSW |
12 |
81,424,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R8498:Gm4787
|
UTSW |
12 |
81,425,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R8515:Gm4787
|
UTSW |
12 |
81,424,043 (GRCm39) |
missense |
probably benign |
0.00 |
R9103:Gm4787
|
UTSW |
12 |
81,425,489 (GRCm39) |
missense |
probably benign |
0.06 |
R9457:Gm4787
|
UTSW |
12 |
81,426,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R9557:Gm4787
|
UTSW |
12 |
81,426,074 (GRCm39) |
nonsense |
probably null |
|
R9608:Gm4787
|
UTSW |
12 |
81,425,086 (GRCm39) |
missense |
probably benign |
0.03 |
V7580:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
V7581:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
V7582:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTTGACACCATCACAGTGG -3'
(R):5'- ACTCAGGGCAGCTCTTGTAATAAAG -3'
Sequencing Primer
(F):5'- CCATCACAGTGGAGCATTCC -3'
(R):5'- CAGCTCTTGTAATAAAGGAGGTTGC -3'
|
Posted On |
2016-09-06 |