Incidental Mutation 'R7632:Sgsm1'
ID |
589683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsm1
|
Ensembl Gene |
ENSMUSG00000042216 |
Gene Name |
small G protein signaling modulator 1 |
Synonyms |
Rutbc2, D5Bwg1524e, 2410098H20Rik |
MMRRC Submission |
045720-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7632 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
113391086-113458652 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113423948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 461
(Q461L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048112]
[ENSMUST00000057209]
[ENSMUST00000112324]
[ENSMUST00000112325]
[ENSMUST00000154248]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048112
AA Change: Q461L
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000046544 Gene: ENSMUSG00000042216 AA Change: Q461L
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: Q174L
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000084106 Gene: ENSMUSG00000042216 AA Change: Q174L
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112324
AA Change: Q174L
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107943 Gene: ENSMUSG00000042216 AA Change: Q174L
Domain | Start | End | E-Value | Type |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112325
AA Change: Q461L
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000107944 Gene: ENSMUSG00000042216 AA Change: Q461L
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 |
SCOP:d1fkma1
|
539 |
615 |
1e-6 |
SMART |
Blast:TBC
|
559 |
675 |
1e-71 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154248
AA Change: Q516L
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114932 Gene: ENSMUSG00000042216 AA Change: Q516L
Domain | Start | End | E-Value | Type |
RUN
|
127 |
187 |
6.52e-18 |
SMART |
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
low complexity region
|
509 |
524 |
N/A |
INTRINSIC |
SCOP:d1fkma1
|
594 |
670 |
9e-7 |
SMART |
Blast:TBC
|
614 |
706 |
3e-55 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
95% (63/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2a2 |
A |
G |
7: 141,211,236 (GRCm39) |
D924G |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,618,738 (GRCm39) |
D152G |
probably damaging |
Het |
B3gnt8 |
A |
G |
7: 25,327,860 (GRCm39) |
I97V |
possibly damaging |
Het |
Bach1 |
A |
G |
16: 87,517,031 (GRCm39) |
D524G |
probably benign |
Het |
Caprin2 |
T |
C |
6: 148,784,954 (GRCm39) |
S107G |
probably damaging |
Het |
Ccnb1 |
A |
G |
13: 100,918,209 (GRCm39) |
I207T |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,400,515 (GRCm39) |
D151G |
probably damaging |
Het |
Cdh9 |
A |
G |
15: 16,851,115 (GRCm39) |
|
probably null |
Het |
Cep83 |
A |
T |
10: 94,586,502 (GRCm39) |
R433W |
probably damaging |
Het |
Cspg4b |
C |
A |
13: 113,457,420 (GRCm39) |
S1155R |
|
Het |
D3Ertd751e |
A |
G |
3: 41,708,163 (GRCm39) |
E100G |
probably benign |
Het |
Dchs2 |
C |
T |
3: 83,255,357 (GRCm39) |
A2351V |
probably benign |
Het |
Dhx40 |
T |
C |
11: 86,690,263 (GRCm39) |
T253A |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,036,680 (GRCm39) |
D228G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,627,327 (GRCm39) |
M4002T |
probably benign |
Het |
Flcn |
C |
T |
11: 59,686,625 (GRCm39) |
W376* |
probably null |
Het |
Flnc |
A |
T |
6: 29,446,984 (GRCm39) |
Y1037F |
probably damaging |
Het |
Fut11 |
T |
A |
14: 20,745,096 (GRCm39) |
V9E |
probably benign |
Het |
Fv1 |
T |
A |
4: 147,954,392 (GRCm39) |
N319K |
possibly damaging |
Het |
Ghrhr |
G |
T |
6: 55,361,727 (GRCm39) |
G298V |
probably benign |
Het |
Gm5800 |
T |
A |
14: 51,953,905 (GRCm39) |
|
probably null |
Het |
Grin2b |
A |
G |
6: 135,709,553 (GRCm39) |
M1331T |
probably benign |
Het |
Hyou1 |
A |
G |
9: 44,292,433 (GRCm39) |
|
probably null |
Het |
Igkv1-117 |
C |
A |
6: 68,098,792 (GRCm39) |
Q114K |
probably damaging |
Het |
Igkv4-68 |
A |
G |
6: 69,282,048 (GRCm39) |
V41A |
possibly damaging |
Het |
Inpp4b |
A |
G |
8: 82,772,968 (GRCm39) |
N754S |
probably damaging |
Het |
Isl2 |
G |
A |
9: 55,448,440 (GRCm39) |
|
probably null |
Het |
Kat2a |
G |
A |
11: 100,599,422 (GRCm39) |
Q523* |
probably null |
Het |
Lypd3 |
T |
C |
7: 24,337,865 (GRCm39) |
F77S |
possibly damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,084 (GRCm39) |
L297P |
probably benign |
Het |
Naca |
T |
C |
10: 127,876,375 (GRCm39) |
V469A |
unknown |
Het |
Notch3 |
C |
T |
17: 32,377,480 (GRCm39) |
V199I |
probably benign |
Het |
Or4k44 |
T |
C |
2: 111,368,521 (GRCm39) |
I38V |
possibly damaging |
Het |
Or5b119 |
T |
C |
19: 13,456,795 (GRCm39) |
M256V |
possibly damaging |
Het |
Pabpc1 |
TGTACCTGTTGCATGGTA |
TGTA |
15: 36,598,212 (GRCm39) |
|
probably null |
Het |
Pcdhb8 |
A |
T |
18: 37,488,648 (GRCm39) |
I109L |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,133,801 (GRCm39) |
D104G |
possibly damaging |
Het |
Phip |
A |
G |
9: 82,785,243 (GRCm39) |
V824A |
probably benign |
Het |
Plekhg4 |
T |
C |
8: 106,106,782 (GRCm39) |
Y853H |
probably damaging |
Het |
Plod1 |
T |
C |
4: 148,011,481 (GRCm39) |
K248R |
probably damaging |
Het |
Plxnd1 |
A |
T |
6: 115,953,600 (GRCm39) |
Y656N |
probably benign |
Het |
Pogz |
G |
A |
3: 94,763,517 (GRCm39) |
|
probably null |
Het |
Ppp1r3e |
T |
A |
14: 55,114,526 (GRCm39) |
S79C |
probably damaging |
Het |
Pprc1 |
T |
A |
19: 46,060,721 (GRCm39) |
D1595E |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,547,783 (GRCm39) |
V205A |
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,507,116 (GRCm39) |
V346A |
possibly damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,934 (GRCm39) |
L239H |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,385,727 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scaf1 |
A |
T |
7: 44,656,503 (GRCm39) |
V792D |
unknown |
Het |
Scrn2 |
G |
T |
11: 96,923,968 (GRCm39) |
R284L |
possibly damaging |
Het |
Slc18b1 |
A |
G |
10: 23,702,080 (GRCm39) |
T434A |
probably benign |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
Snx33 |
A |
T |
9: 56,833,702 (GRCm39) |
D122E |
probably damaging |
Het |
Srebf2 |
G |
T |
15: 82,069,497 (GRCm39) |
V680L |
probably benign |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Tecpr1 |
C |
T |
5: 144,155,544 (GRCm39) |
V5M |
probably benign |
Het |
Tfg |
A |
G |
16: 56,532,997 (GRCm39) |
V54A |
possibly damaging |
Het |
Tmem237 |
C |
T |
1: 59,156,060 (GRCm39) |
C30Y |
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,916,787 (GRCm39) |
K444R |
probably benign |
Het |
Trim25 |
T |
G |
11: 88,906,602 (GRCm39) |
L446R |
probably null |
Het |
Usp37 |
T |
C |
1: 74,507,533 (GRCm39) |
T495A |
probably benign |
Het |
Vmn1r94 |
T |
G |
7: 19,901,696 (GRCm39) |
T203P |
probably damaging |
Het |
Ywhah |
T |
A |
5: 33,184,010 (GRCm39) |
M71K |
probably benign |
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 |
R0599:Sgsm1
|
UTSW |
5 |
113,392,894 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- GCCATGATTTAACCCTAGCTCC -3'
(R):5'- TTTGGGACTGTCACACTCCG -3'
Sequencing Primer
(F):5'- ATGATTTAACCCTAGCTCCATTTG -3'
(R):5'- CAGCTTTGGGAGAGCTGC -3'
|
Posted On |
2019-10-24 |