Incidental Mutation 'R0599:Sgsm1'
| ID |
55205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm1
|
| Ensembl Gene |
ENSMUSG00000042216 |
| Gene Name |
small G protein signaling modulator 1 |
| Synonyms |
Rutbc2, D5Bwg1524e, 2410098H20Rik |
| MMRRC Submission |
038788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0599 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
113391086-113458652 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 113392894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1087
(Q1087K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048112]
[ENSMUST00000057209]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048112
AA Change: Q1087K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: Q1087K
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
127 |
187 |
6.52e-18 |
SMART |
|
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
469 |
N/A |
INTRINSIC |
|
TBC
|
559 |
1053 |
2.88e-29 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057209
AA Change: Q800K
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: Q800K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
|
TBC
|
272 |
766 |
2.88e-29 |
SMART |
|
| Meta Mutation Damage Score |
0.2577 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
98% (80/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,529,208 (GRCm39) |
L978P |
probably damaging |
Het |
| Abcb1a |
C |
T |
5: 8,748,539 (GRCm39) |
T290M |
probably benign |
Het |
| Abcd3 |
A |
T |
3: 121,558,742 (GRCm39) |
F585I |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,494,200 (GRCm39) |
G1106D |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,761,038 (GRCm39) |
|
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,870,292 (GRCm39) |
D667G |
possibly damaging |
Het |
| Ap3m2 |
G |
T |
8: 23,283,128 (GRCm39) |
A208D |
possibly damaging |
Het |
| Arhgap17 |
A |
T |
7: 122,903,013 (GRCm39) |
|
probably benign |
Het |
| Bptf |
A |
G |
11: 106,959,208 (GRCm39) |
V1838A |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 86,043,563 (GRCm39) |
M334L |
probably benign |
Het |
| Btbd10 |
C |
T |
7: 112,934,516 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
A |
1: 109,980,696 (GRCm39) |
T208K |
probably damaging |
Het |
| Cnga4 |
A |
G |
7: 105,055,025 (GRCm39) |
Y100C |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,878,017 (GRCm39) |
V2644M |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,856,515 (GRCm39) |
D2882G |
probably damaging |
Het |
| Eapp |
T |
A |
12: 54,732,747 (GRCm39) |
K117M |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,916,427 (GRCm39) |
V673A |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,368,117 (GRCm39) |
C754Y |
probably damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,480,956 (GRCm39) |
D33G |
possibly damaging |
Het |
| Farsa |
A |
G |
8: 85,594,212 (GRCm39) |
K321E |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,360,624 (GRCm39) |
R2090Q |
probably damaging |
Het |
| Gm10283 |
A |
G |
8: 60,954,258 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,650,464 (GRCm39) |
I844T |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,726,691 (GRCm39) |
D124G |
probably benign |
Het |
| Gulo |
A |
T |
14: 66,227,890 (GRCm39) |
D347E |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,485,552 (GRCm39) |
F4350S |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,239,712 (GRCm39) |
D473G |
probably damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,466 (GRCm39) |
I539N |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,720,440 (GRCm39) |
E1026G |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 114,993,186 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
A |
T |
13: 47,212,286 (GRCm39) |
D190V |
possibly damaging |
Het |
| Lima1 |
A |
T |
15: 99,700,040 (GRCm39) |
N146K |
probably damaging |
Het |
| Mnt |
G |
T |
11: 74,733,122 (GRCm39) |
V85L |
probably benign |
Het |
| Mon2 |
T |
A |
10: 122,861,970 (GRCm39) |
|
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,713,994 (GRCm39) |
|
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,896,737 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
C |
5: 113,013,616 (GRCm39) |
L780R |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,283,942 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,964,522 (GRCm39) |
S705P |
probably damaging |
Het |
| Ocrl |
A |
T |
X: 47,024,963 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
T |
11: 73,778,730 (GRCm39) |
M156K |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,545 (GRCm39) |
F141S |
probably benign |
Het |
| Or51k1 |
A |
T |
7: 103,661,395 (GRCm39) |
C171* |
probably null |
Het |
| Or52ab4 |
A |
G |
7: 102,987,393 (GRCm39) |
N44S |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,528,049 (GRCm39) |
K1931N |
probably damaging |
Het |
| Plcxd3 |
A |
G |
15: 4,546,349 (GRCm39) |
S118G |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,974,268 (GRCm39) |
Q58L |
probably benign |
Het |
| Proser1 |
C |
A |
3: 53,386,485 (GRCm39) |
P789Q |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,622,897 (GRCm39) |
E38G |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,999,396 (GRCm39) |
Y1164N |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 92,031,628 (GRCm39) |
I83T |
probably damaging |
Het |
| Scn9a |
T |
G |
2: 66,357,143 (GRCm39) |
K1053Q |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 40,017,914 (GRCm39) |
D40G |
probably benign |
Het |
| Slc27a6 |
A |
G |
18: 58,689,885 (GRCm39) |
D117G |
probably damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,637,487 (GRCm39) |
|
probably benign |
Het |
| Slc4a1 |
A |
G |
11: 102,248,741 (GRCm39) |
|
probably benign |
Het |
| Smarca1 |
T |
A |
X: 46,912,303 (GRCm39) |
Q982L |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,608,831 (GRCm39) |
I320N |
possibly damaging |
Het |
| Stx8 |
A |
T |
11: 68,000,188 (GRCm39) |
R209S |
probably null |
Het |
| Sulf2 |
T |
C |
2: 165,925,799 (GRCm39) |
T453A |
possibly damaging |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
A |
11: 35,915,607 (GRCm39) |
I1976F |
possibly damaging |
Het |
| Tenm3 |
G |
A |
8: 48,730,745 (GRCm39) |
S1341L |
probably damaging |
Het |
| Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
| Tmem200c |
A |
G |
17: 69,147,506 (GRCm39) |
K30E |
probably damaging |
Het |
| Tmem225 |
A |
G |
9: 40,061,043 (GRCm39) |
I117V |
possibly damaging |
Het |
| Tmt1a3 |
A |
T |
15: 100,233,264 (GRCm39) |
N152Y |
possibly damaging |
Het |
| Top2a |
A |
G |
11: 98,892,243 (GRCm39) |
I1073T |
probably damaging |
Het |
| Trps1 |
A |
C |
15: 50,695,256 (GRCm39) |
Y296* |
probably null |
Het |
| Tubg1 |
T |
C |
11: 101,016,162 (GRCm39) |
M377T |
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,957,301 (GRCm39) |
V7A |
probably damaging |
Het |
| Vmn1r35 |
G |
A |
6: 66,656,497 (GRCm39) |
H58Y |
probably benign |
Het |
| Vmn1r56 |
G |
A |
7: 5,199,429 (GRCm39) |
H63Y |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,615,189 (GRCm39) |
|
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,603 (GRCm39) |
S303P |
possibly damaging |
Het |
| Wdr49 |
C |
T |
3: 75,338,383 (GRCm39) |
|
probably null |
Het |
| Wdr49 |
T |
C |
3: 75,357,197 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,804,004 (GRCm39) |
L2582P |
probably damaging |
Het |
|
| Other mutations in Sgsm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Sgsm1
|
APN |
5 |
113,392,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00503:Sgsm1
|
APN |
5 |
113,424,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01377:Sgsm1
|
APN |
5 |
113,424,048 (GRCm39) |
splice site |
probably benign |
|
|
IGL01602:Sgsm1
|
APN |
5 |
113,433,531 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01605:Sgsm1
|
APN |
5 |
113,433,531 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01669:Sgsm1
|
APN |
5 |
113,411,356 (GRCm39) |
missense |
probably benign |
|
|
IGL01920:Sgsm1
|
APN |
5 |
113,421,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Sgsm1
|
APN |
5 |
113,434,633 (GRCm39) |
splice site |
probably benign |
|
|
IGL02387:Sgsm1
|
APN |
5 |
113,400,929 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02690:Sgsm1
|
APN |
5 |
113,434,633 (GRCm39) |
splice site |
probably benign |
|
|
IGL03177:Sgsm1
|
APN |
5 |
113,398,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03186:Sgsm1
|
APN |
5 |
113,432,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03398:Sgsm1
|
APN |
5 |
113,403,182 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
caliente
|
UTSW |
5 |
113,428,328 (GRCm39) |
intron |
probably benign |
|
|
Chili
|
UTSW |
5 |
113,405,989 (GRCm39) |
intron |
probably benign |
|
|
pimiento
|
UTSW |
5 |
113,411,123 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0048:Sgsm1
|
UTSW |
5 |
113,416,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Sgsm1
|
UTSW |
5 |
113,432,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Sgsm1
|
UTSW |
5 |
113,432,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:Sgsm1
|
UTSW |
5 |
113,436,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0085:Sgsm1
|
UTSW |
5 |
113,427,136 (GRCm39) |
splice site |
probably benign |
|
|
R0099:Sgsm1
|
UTSW |
5 |
113,422,226 (GRCm39) |
splice site |
probably benign |
|
|
R0269:Sgsm1
|
UTSW |
5 |
113,434,795 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0310:Sgsm1
|
UTSW |
5 |
113,411,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0325:Sgsm1
|
UTSW |
5 |
113,436,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0420:Sgsm1
|
UTSW |
5 |
113,411,625 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0594:Sgsm1
|
UTSW |
5 |
113,458,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0631:Sgsm1
|
UTSW |
5 |
113,432,989 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Sgsm1
|
UTSW |
5 |
113,427,050 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0833:Sgsm1
|
UTSW |
5 |
113,427,050 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0919:Sgsm1
|
UTSW |
5 |
113,406,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0944:Sgsm1
|
UTSW |
5 |
113,413,740 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1169:Sgsm1
|
UTSW |
5 |
113,427,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1232:Sgsm1
|
UTSW |
5 |
113,421,577 (GRCm39) |
nonsense |
probably null |
|
|
R1473:Sgsm1
|
UTSW |
5 |
113,411,123 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1535:Sgsm1
|
UTSW |
5 |
113,411,135 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1796:Sgsm1
|
UTSW |
5 |
113,421,483 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1878:Sgsm1
|
UTSW |
5 |
113,411,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2084:Sgsm1
|
UTSW |
5 |
113,433,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Sgsm1
|
UTSW |
5 |
113,411,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3856:Sgsm1
|
UTSW |
5 |
113,411,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4294:Sgsm1
|
UTSW |
5 |
113,433,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Sgsm1
|
UTSW |
5 |
113,405,989 (GRCm39) |
intron |
probably benign |
|
|
R4558:Sgsm1
|
UTSW |
5 |
113,405,977 (GRCm39) |
intron |
probably benign |
|
|
R4610:Sgsm1
|
UTSW |
5 |
113,403,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Sgsm1
|
UTSW |
5 |
113,407,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4838:Sgsm1
|
UTSW |
5 |
113,430,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Sgsm1
|
UTSW |
5 |
113,428,328 (GRCm39) |
intron |
probably benign |
|
|
R4992:Sgsm1
|
UTSW |
5 |
113,430,486 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5366:Sgsm1
|
UTSW |
5 |
113,398,905 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5776:Sgsm1
|
UTSW |
5 |
113,398,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Sgsm1
|
UTSW |
5 |
113,398,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Sgsm1
|
UTSW |
5 |
113,434,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Sgsm1
|
UTSW |
5 |
113,430,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6440:Sgsm1
|
UTSW |
5 |
113,426,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6831:Sgsm1
|
UTSW |
5 |
113,428,246 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7307:Sgsm1
|
UTSW |
5 |
113,421,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7309:Sgsm1
|
UTSW |
5 |
113,416,712 (GRCm39) |
splice site |
probably null |
|
|
R7387:Sgsm1
|
UTSW |
5 |
113,411,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Sgsm1
|
UTSW |
5 |
113,422,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7485:Sgsm1
|
UTSW |
5 |
113,427,501 (GRCm39) |
splice site |
probably null |
|
|
R7624:Sgsm1
|
UTSW |
5 |
113,422,201 (GRCm39) |
nonsense |
probably null |
|
|
R7632:Sgsm1
|
UTSW |
5 |
113,423,948 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7669:Sgsm1
|
UTSW |
5 |
113,400,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Sgsm1
|
UTSW |
5 |
113,422,193 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7732:Sgsm1
|
UTSW |
5 |
113,414,196 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7961:Sgsm1
|
UTSW |
5 |
113,430,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8088:Sgsm1
|
UTSW |
5 |
113,403,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Sgsm1
|
UTSW |
5 |
113,398,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8278:Sgsm1
|
UTSW |
5 |
113,407,958 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8480:Sgsm1
|
UTSW |
5 |
113,411,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8796:Sgsm1
|
UTSW |
5 |
113,411,123 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8816:Sgsm1
|
UTSW |
5 |
113,435,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8904:Sgsm1
|
UTSW |
5 |
113,421,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8905:Sgsm1
|
UTSW |
5 |
113,421,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8952:Sgsm1
|
UTSW |
5 |
113,432,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Sgsm1
|
UTSW |
5 |
113,436,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9162:Sgsm1
|
UTSW |
5 |
113,430,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Sgsm1
|
UTSW |
5 |
113,428,201 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9375:Sgsm1
|
UTSW |
5 |
113,422,139 (GRCm39) |
missense |
unknown |
|
|
R9377:Sgsm1
|
UTSW |
5 |
113,436,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Sgsm1
|
UTSW |
5 |
113,423,898 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9662:Sgsm1
|
UTSW |
5 |
113,427,097 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9722:Sgsm1
|
UTSW |
5 |
113,428,207 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9726:Sgsm1
|
UTSW |
5 |
113,458,418 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Sgsm1
|
UTSW |
5 |
113,430,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTTGCTGGGTGCAGAGGAAAC -3'
(R):5'- TCAGAGTCACTTTGTGGCACCAAC -3'
Sequencing Primer
(F):5'- GATATCCCAGACTTGGGCAATC -3'
(R):5'- AGGCAAAGATGCTCACCAGT -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation