Incidental Mutation 'R5634:Gm4787'
ID |
440049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4787
|
Ensembl Gene |
ENSMUSG00000072974 |
Gene Name |
predicted gene 4787 |
Synonyms |
|
MMRRC Submission |
043285-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5634 (G1)
|
Quality Score |
225 |
Status
|
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: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
T |
C |
9: 53,494,921 (GRCm39) |
|
probably benign |
Het |
Aen |
A |
T |
7: 78,552,255 (GRCm39) |
T34S |
probably benign |
Het |
Apoh |
T |
A |
11: 108,302,875 (GRCm39) |
V280E |
probably damaging |
Het |
Ccdc87 |
A |
G |
19: 4,890,693 (GRCm39) |
H395R |
probably benign |
Het |
Ccrl2 |
T |
A |
9: 110,885,055 (GRCm39) |
|
probably null |
Het |
Cdh20 |
T |
C |
1: 104,902,800 (GRCm39) |
F497S |
probably damaging |
Het |
Cfap54 |
C |
A |
10: 92,740,125 (GRCm39) |
|
probably benign |
Het |
Cimap1b |
T |
A |
15: 89,262,410 (GRCm39) |
T70S |
probably benign |
Het |
Cipc |
T |
A |
12: 86,999,749 (GRCm39) |
|
probably null |
Het |
Col14a1 |
T |
A |
15: 55,381,694 (GRCm39) |
Y1756N |
probably damaging |
Het |
Cyp2c54 |
G |
A |
19: 40,060,858 (GRCm39) |
A95V |
possibly damaging |
Het |
Dcdc5 |
A |
G |
2: 106,234,325 (GRCm39) |
|
noncoding transcript |
Het |
Dnah17 |
T |
C |
11: 117,943,752 (GRCm39) |
|
probably null |
Het |
Eepd1 |
A |
T |
9: 25,514,849 (GRCm39) |
N552I |
probably benign |
Het |
Eif2ak4 |
A |
T |
2: 118,292,792 (GRCm39) |
R1218W |
probably damaging |
Het |
Fbxw18 |
T |
A |
9: 109,505,871 (GRCm39) |
I467F |
possibly damaging |
Het |
Ffar4 |
GCTTCTT |
GCTT |
19: 38,102,373 (GRCm39) |
|
probably benign |
Het |
Gpha2 |
A |
G |
19: 6,276,890 (GRCm39) |
T25A |
probably benign |
Het |
Grin3a |
T |
A |
4: 49,792,843 (GRCm39) |
I297F |
probably damaging |
Het |
Herc2 |
G |
A |
7: 55,856,531 (GRCm39) |
G3924R |
probably damaging |
Het |
Hmcn2 |
G |
T |
2: 31,223,893 (GRCm39) |
D97Y |
probably damaging |
Het |
Igdcc4 |
G |
A |
9: 65,041,828 (GRCm39) |
G1131D |
probably benign |
Het |
Il18rap |
T |
C |
1: 40,578,536 (GRCm39) |
|
probably benign |
Het |
Ino80d |
C |
A |
1: 63,101,442 (GRCm39) |
|
probably benign |
Het |
Klhl1 |
T |
C |
14: 96,477,707 (GRCm39) |
T454A |
probably damaging |
Het |
Krt84 |
C |
A |
15: 101,437,084 (GRCm39) |
V360L |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,432,840 (GRCm39) |
N1267S |
possibly damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,803,576 (GRCm39) |
N15S |
probably damaging |
Het |
Med13l |
T |
C |
5: 118,698,915 (GRCm39) |
F22S |
possibly damaging |
Het |
Mrc2 |
T |
A |
11: 105,227,040 (GRCm39) |
C548* |
probably null |
Het |
Nacad |
T |
C |
11: 6,552,387 (GRCm39) |
E268G |
possibly damaging |
Het |
Nfxl1 |
A |
G |
5: 72,686,833 (GRCm39) |
C527R |
probably damaging |
Het |
Nphp1 |
A |
T |
2: 127,601,570 (GRCm39) |
C412S |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4g16 |
A |
G |
2: 111,137,437 (GRCm39) |
I296V |
probably benign |
Het |
Per2 |
C |
T |
1: 91,372,429 (GRCm39) |
C215Y |
probably benign |
Het |
Pias1 |
T |
C |
9: 62,803,255 (GRCm39) |
T343A |
probably benign |
Het |
Pja2 |
C |
T |
17: 64,599,862 (GRCm39) |
V541M |
probably damaging |
Het |
Plxna4 |
G |
A |
6: 32,214,658 (GRCm39) |
Q608* |
probably null |
Het |
Ppil4 |
T |
A |
10: 7,690,542 (GRCm39) |
D398E |
probably benign |
Het |
Ppp4r3a |
T |
A |
12: 101,009,780 (GRCm39) |
D8V |
probably damaging |
Het |
Pstk |
A |
C |
7: 130,973,072 (GRCm39) |
D57A |
probably damaging |
Het |
Ptprd |
T |
C |
4: 75,990,255 (GRCm39) |
I53V |
probably benign |
Het |
Pyroxd2 |
A |
G |
19: 42,728,924 (GRCm39) |
F159L |
probably benign |
Het |
Rnf103 |
A |
G |
6: 71,486,601 (GRCm39) |
M411V |
probably benign |
Het |
Scn4a |
T |
C |
11: 106,220,830 (GRCm39) |
D943G |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,742,540 (GRCm39) |
T790A |
probably damaging |
Het |
Sfr1 |
T |
C |
19: 47,722,310 (GRCm39) |
L242P |
probably damaging |
Het |
Snx25 |
T |
C |
8: 46,494,428 (GRCm39) |
D819G |
possibly damaging |
Het |
Sult2b1 |
A |
G |
7: 45,383,506 (GRCm39) |
V183A |
probably damaging |
Het |
Tcf4 |
C |
A |
18: 69,769,918 (GRCm39) |
S8R |
possibly damaging |
Het |
Ttc7 |
A |
G |
17: 87,649,515 (GRCm39) |
D531G |
probably benign |
Het |
Uap1l1 |
A |
C |
2: 25,254,145 (GRCm39) |
C271G |
probably damaging |
Het |
Ubtf |
T |
C |
11: 102,201,150 (GRCm39) |
Y268C |
probably damaging |
Het |
Vinac1 |
A |
T |
2: 128,881,406 (GRCm39) |
D173E |
probably benign |
Het |
Zfp951 |
A |
T |
5: 104,963,155 (GRCm39) |
M137K |
probably benign |
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 |
R5396: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 |
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'- AAGGTAGTGTGCTCACCTCC -3'
(R):5'- GCTGTCTATCTTGTAAGTTTGCAC -3'
Sequencing Primer
(F):5'- GCTTGACACCATCACAGTGGAG -3'
(R):5'- TGTAAGTTTGCACCCACTGGAAC -3'
|
Posted On |
2016-11-08 |