Incidental Mutation 'R4750:Gm4787'
ID |
357522 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4787
|
Ensembl Gene |
ENSMUSG00000072974 |
Gene Name |
predicted gene 4787 |
Synonyms |
|
MMRRC Submission |
042031-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R4750 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81423765-81426238 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81425141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 339
(N339S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
AlphaFold |
B2RUD9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062182
AA Change: N339S
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000077390 Gene: ENSMUSG00000072974 AA Change: N339S
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
97% (89/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
A |
4: 148,025,945 (GRCm39) |
L155Q |
probably damaging |
Het |
Aadac |
T |
C |
3: 59,943,238 (GRCm39) |
F48L |
probably benign |
Het |
Aadat |
T |
A |
8: 60,979,634 (GRCm39) |
N165K |
probably benign |
Het |
Acan |
C |
A |
7: 78,742,466 (GRCm39) |
D557E |
probably damaging |
Het |
Adamts4 |
T |
A |
1: 171,078,635 (GRCm39) |
V85D |
probably benign |
Het |
Agt |
A |
G |
8: 125,283,676 (GRCm39) |
V481A |
probably benign |
Het |
Angpt1 |
T |
C |
15: 42,539,797 (GRCm39) |
N21D |
probably benign |
Het |
Ankrd52 |
A |
C |
10: 128,213,958 (GRCm39) |
D38A |
probably damaging |
Het |
Ap1g2 |
G |
T |
14: 55,341,822 (GRCm39) |
Q247K |
probably damaging |
Het |
Apaf1 |
T |
C |
10: 90,896,050 (GRCm39) |
R341G |
probably damaging |
Het |
Arf2 |
T |
C |
11: 103,870,585 (GRCm39) |
|
probably null |
Het |
Arhgef1 |
A |
G |
7: 24,618,001 (GRCm39) |
|
probably benign |
Het |
Bbln |
C |
T |
2: 32,269,425 (GRCm39) |
|
probably null |
Het |
Bbox1 |
T |
A |
2: 110,095,866 (GRCm39) |
Y366F |
possibly damaging |
Het |
Bmp3 |
A |
G |
5: 99,020,417 (GRCm39) |
E280G |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdh12 |
T |
A |
15: 21,583,894 (GRCm39) |
V578D |
possibly damaging |
Het |
Cdk19 |
T |
C |
10: 40,352,195 (GRCm39) |
S282P |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,259,239 (GRCm39) |
|
probably null |
Het |
Cfhr3 |
T |
A |
1: 139,512,566 (GRCm39) |
|
noncoding transcript |
Het |
Ctrc |
T |
A |
4: 141,568,834 (GRCm39) |
Y123F |
probably benign |
Het |
Dync2i2 |
T |
C |
2: 29,923,932 (GRCm39) |
T198A |
probably benign |
Het |
Enpp4 |
A |
G |
17: 44,413,246 (GRCm39) |
M96T |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,646,851 (GRCm39) |
S154T |
possibly damaging |
Het |
Fbxo21 |
G |
A |
5: 118,138,533 (GRCm39) |
R486H |
probably benign |
Het |
Foxj3 |
C |
A |
4: 119,473,787 (GRCm39) |
A204E |
probably damaging |
Het |
Gas6 |
T |
G |
8: 13,526,227 (GRCm39) |
D237A |
probably benign |
Het |
Gimap8 |
A |
G |
6: 48,627,361 (GRCm39) |
S112G |
probably benign |
Het |
Gm6185 |
T |
C |
1: 161,009,933 (GRCm39) |
|
noncoding transcript |
Het |
Gramd2b |
A |
G |
18: 56,565,372 (GRCm39) |
E9G |
probably benign |
Het |
Hmgxb3 |
A |
T |
18: 61,300,568 (GRCm39) |
D169E |
probably benign |
Het |
Isl2 |
T |
A |
9: 55,451,596 (GRCm39) |
V162D |
probably benign |
Het |
Kcns3 |
T |
A |
12: 11,141,655 (GRCm39) |
D348V |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,484,625 (GRCm39) |
P1318S |
probably benign |
Het |
Kif12 |
T |
A |
4: 63,086,020 (GRCm39) |
Q415L |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,637,416 (GRCm39) |
H45Q |
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,358,130 (GRCm39) |
K117M |
probably benign |
Het |
Loxl4 |
T |
A |
19: 42,593,443 (GRCm39) |
N243Y |
probably damaging |
Het |
Lrif1 |
C |
A |
3: 106,642,880 (GRCm39) |
Q662K |
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,346,306 (GRCm39) |
I3187L |
probably benign |
Het |
Lsg1 |
A |
G |
16: 30,384,267 (GRCm39) |
I521T |
probably damaging |
Het |
Mecom |
T |
G |
3: 30,011,679 (GRCm39) |
K865Q |
probably damaging |
Het |
Myh10 |
T |
C |
11: 68,676,140 (GRCm39) |
I790T |
probably damaging |
Het |
Nek7 |
C |
T |
1: 138,426,411 (GRCm39) |
S234N |
probably damaging |
Het |
Nepro |
T |
C |
16: 44,550,545 (GRCm39) |
L179P |
probably damaging |
Het |
Nexn |
A |
G |
3: 151,943,359 (GRCm39) |
C649R |
probably damaging |
Het |
Nsmf |
T |
C |
2: 24,945,038 (GRCm39) |
S34P |
probably damaging |
Het |
Or10x1 |
A |
G |
1: 174,196,488 (GRCm39) |
I2V |
probably benign |
Het |
Or13n4 |
A |
G |
7: 106,423,514 (GRCm39) |
F73S |
probably damaging |
Het |
Or13p5 |
T |
A |
4: 118,591,930 (GRCm39) |
V68D |
possibly damaging |
Het |
Or1n2 |
T |
A |
2: 36,797,728 (GRCm39) |
S257T |
probably benign |
Het |
Or1p1c |
T |
A |
11: 74,160,246 (GRCm39) |
F10L |
probably benign |
Het |
Or2w2 |
A |
G |
13: 21,757,913 (GRCm39) |
S238P |
possibly damaging |
Het |
Or52l1 |
A |
T |
7: 104,830,133 (GRCm39) |
I144N |
probably damaging |
Het |
Or5bw2 |
A |
G |
7: 6,573,850 (GRCm39) |
I287V |
probably benign |
Het |
Or5w16 |
C |
T |
2: 87,576,852 (GRCm39) |
T104I |
probably benign |
Het |
P2rx5 |
G |
T |
11: 73,055,703 (GRCm39) |
K53N |
probably damaging |
Het |
Pcdhb20 |
C |
A |
18: 37,639,184 (GRCm39) |
A570E |
possibly damaging |
Het |
Pip4k2c |
T |
C |
10: 127,047,286 (GRCm39) |
H32R |
unknown |
Het |
Pkhd1 |
T |
A |
1: 20,594,336 (GRCm39) |
D1259V |
possibly damaging |
Het |
Plekha7 |
A |
T |
7: 115,736,546 (GRCm39) |
V889E |
probably damaging |
Het |
Polr2b |
A |
C |
5: 77,479,886 (GRCm39) |
E546D |
possibly damaging |
Het |
Ppm1l |
A |
G |
3: 69,456,661 (GRCm39) |
T193A |
probably damaging |
Het |
Ppp1r37 |
G |
T |
7: 19,265,445 (GRCm39) |
D710E |
probably benign |
Het |
Prdm4 |
A |
G |
10: 85,735,085 (GRCm39) |
F679L |
probably damaging |
Het |
Prkcd |
A |
G |
14: 30,332,258 (GRCm39) |
M1T |
probably null |
Het |
Prss59 |
A |
G |
6: 40,897,955 (GRCm39) |
W243R |
probably damaging |
Het |
Rcor3 |
A |
G |
1: 191,814,749 (GRCm39) |
Y77H |
unknown |
Het |
Rdh5 |
T |
C |
10: 128,754,235 (GRCm39) |
E66G |
possibly damaging |
Het |
Slc12a5 |
A |
G |
2: 164,824,851 (GRCm39) |
M396V |
probably benign |
Het |
Slco5a1 |
T |
G |
1: 12,949,504 (GRCm39) |
T629P |
probably damaging |
Het |
Smarca5 |
A |
C |
8: 81,460,336 (GRCm39) |
N133K |
probably benign |
Het |
Spag5 |
T |
C |
11: 78,210,878 (GRCm39) |
M927T |
probably benign |
Het |
Spint4 |
A |
T |
2: 164,542,066 (GRCm39) |
D39V |
probably damaging |
Het |
Syt6 |
T |
A |
3: 103,538,233 (GRCm39) |
*512R |
probably null |
Het |
Tmem247 |
T |
C |
17: 87,229,770 (GRCm39) |
C204R |
probably damaging |
Het |
Tmem72 |
A |
G |
6: 116,672,395 (GRCm39) |
Y149H |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,853,428 (GRCm39) |
V1816A |
probably damaging |
Het |
Usp35 |
A |
G |
7: 96,959,546 (GRCm39) |
V1008A |
possibly damaging |
Het |
Washc4 |
T |
C |
10: 83,426,916 (GRCm39) |
S1075P |
probably damaging |
Het |
Xylb |
G |
T |
9: 119,188,379 (GRCm39) |
G62* |
probably null |
Het |
Zfp142 |
T |
C |
1: 74,611,617 (GRCm39) |
E623G |
probably damaging |
Het |
Zfp239 |
A |
G |
6: 117,848,700 (GRCm39) |
Y146C |
probably damaging |
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 |
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 |
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'- ATGCAAGGATCCCAACCATG -3'
(R):5'- TTGGAATGACAAGGACCACTACTC -3'
Sequencing Primer
(F):5'- GGATCCTCATATGTAGCACATCATGG -3'
(R):5'- TGACAAGGACCACTACTCAATTTC -3'
|
Posted On |
2015-11-11 |