Incidental Mutation 'R7439:Sgsm1'
ID |
576811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsm1
|
Ensembl Gene |
ENSMUSG00000042216 |
Gene Name |
small G protein signaling modulator 1 |
Synonyms |
Rutbc2, D5Bwg1524e, 2410098H20Rik |
MMRRC Submission |
045515-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7439 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
113391086-113458652 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113422187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 489
(Y489C)
|
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 |
probably damaging
Transcript: ENSMUST00000048112
AA Change: Y489C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000046544 Gene: ENSMUSG00000042216 AA Change: Y489C
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 |
probably damaging
Transcript: ENSMUST00000057209
AA Change: Y202C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084106 Gene: ENSMUSG00000042216 AA Change: Y202C
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 |
probably damaging
Transcript: ENSMUST00000112324
AA Change: Y202C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107943 Gene: ENSMUSG00000042216 AA Change: Y202C
Domain | Start | End | E-Value | Type |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112325
AA Change: Y489C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107944 Gene: ENSMUSG00000042216 AA Change: Y489C
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 |
possibly damaging
Transcript: ENSMUST00000154248
AA Change: Y544C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000114932 Gene: ENSMUSG00000042216 AA Change: Y544C
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: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
C |
4: 144,504,332 (GRCm39) |
D273G |
probably damaging |
Het |
Acacb |
T |
C |
5: 114,333,703 (GRCm39) |
V542A |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,273,069 (GRCm39) |
V1230I |
probably benign |
Het |
Agpat1 |
T |
A |
17: 34,829,883 (GRCm39) |
Y77N |
probably damaging |
Het |
Apc |
T |
A |
18: 34,445,126 (GRCm39) |
I674K |
probably damaging |
Het |
Arpc5 |
T |
C |
1: 152,647,187 (GRCm39) |
S97P |
probably damaging |
Het |
Arrdc5 |
A |
G |
17: 56,604,931 (GRCm39) |
F119L |
probably benign |
Het |
Asap1 |
A |
G |
15: 64,002,105 (GRCm39) |
V402A |
probably damaging |
Het |
Aspg |
T |
C |
12: 112,091,255 (GRCm39) |
V479A |
possibly damaging |
Het |
B3galnt2 |
G |
A |
13: 14,169,070 (GRCm39) |
V368M |
probably benign |
Het |
Bcl3 |
T |
C |
7: 19,556,536 (GRCm39) |
T23A |
probably benign |
Het |
Bpifb5 |
A |
G |
2: 154,070,853 (GRCm39) |
K215E |
possibly damaging |
Het |
Coa4 |
T |
A |
7: 100,188,478 (GRCm39) |
C64S |
probably damaging |
Het |
Dcun1d4 |
T |
C |
5: 73,648,879 (GRCm39) |
|
probably null |
Het |
Dnaaf5 |
T |
G |
5: 139,151,868 (GRCm39) |
C506W |
probably damaging |
Het |
Dock3 |
A |
G |
9: 106,900,931 (GRCm39) |
Y345H |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,621,624 (GRCm39) |
N1024S |
possibly damaging |
Het |
Dsp |
T |
C |
13: 38,360,478 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,379,425 (GRCm39) |
T2057A |
probably benign |
Het |
Dync1h1 |
T |
G |
12: 110,602,887 (GRCm39) |
L2176R |
probably damaging |
Het |
Eif5b |
A |
C |
1: 38,090,718 (GRCm39) |
D1192A |
probably benign |
Het |
Epn2 |
A |
T |
11: 61,437,674 (GRCm39) |
|
probably benign |
Het |
Exoc1 |
T |
A |
5: 76,693,195 (GRCm39) |
N360K |
probably benign |
Het |
Fam135b |
A |
T |
15: 71,335,529 (GRCm39) |
V555E |
probably damaging |
Het |
Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
Gcc2 |
A |
G |
10: 58,092,723 (GRCm39) |
T48A |
probably benign |
Het |
Gm6619 |
T |
G |
6: 131,467,354 (GRCm39) |
I73S |
possibly damaging |
Het |
Gm8267 |
T |
A |
14: 44,960,397 (GRCm39) |
D116V |
probably damaging |
Het |
Hapln3 |
T |
A |
7: 78,767,017 (GRCm39) |
T341S |
probably benign |
Het |
Lamb3 |
C |
A |
1: 193,014,474 (GRCm39) |
D544E |
possibly damaging |
Het |
Lhx5 |
T |
A |
5: 120,578,349 (GRCm39) |
S390T |
probably benign |
Het |
Lrrc63 |
A |
G |
14: 75,363,697 (GRCm39) |
S145P |
possibly damaging |
Het |
Lrriq1 |
T |
C |
10: 103,050,380 (GRCm39) |
M791V |
probably benign |
Het |
Lyg2 |
A |
G |
1: 37,950,218 (GRCm39) |
Y37H |
possibly damaging |
Het |
Lyz3 |
G |
A |
10: 117,074,602 (GRCm39) |
|
probably benign |
Het |
Nrbp1 |
T |
A |
5: 31,402,300 (GRCm39) |
M172K |
probably damaging |
Het |
Or2l13b |
T |
G |
16: 19,349,650 (GRCm39) |
S7R |
probably benign |
Het |
Or4c126 |
A |
G |
2: 89,824,183 (GRCm39) |
I149V |
probably benign |
Het |
Or8u9 |
T |
A |
2: 86,001,354 (GRCm39) |
D269V |
probably damaging |
Het |
Pcyt2 |
A |
T |
11: 120,502,209 (GRCm39) |
Y308N |
possibly damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Phf21b |
A |
G |
15: 84,689,104 (GRCm39) |
S141P |
probably damaging |
Het |
Pigh |
G |
A |
12: 79,136,324 (GRCm39) |
P24S |
probably benign |
Het |
Plekhg3 |
A |
G |
12: 76,623,259 (GRCm39) |
D834G |
probably damaging |
Het |
Plekhg5 |
T |
A |
4: 152,198,392 (GRCm39) |
V860D |
probably benign |
Het |
Pon1 |
A |
G |
6: 5,177,399 (GRCm39) |
I170T |
probably damaging |
Het |
Ptpn9 |
T |
A |
9: 56,934,717 (GRCm39) |
Y160* |
probably null |
Het |
Ptprj |
T |
C |
2: 90,280,163 (GRCm39) |
K1045R |
possibly damaging |
Het |
Rilpl2 |
T |
A |
5: 124,601,851 (GRCm39) |
H196L |
probably benign |
Het |
Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
Rundc3a |
G |
T |
11: 102,290,872 (GRCm39) |
|
probably null |
Het |
Sis |
G |
A |
3: 72,816,374 (GRCm39) |
H1531Y |
possibly damaging |
Het |
Slc26a9 |
A |
G |
1: 131,690,556 (GRCm39) |
Y520C |
probably damaging |
Het |
Smc5 |
A |
G |
19: 23,220,064 (GRCm39) |
V467A |
probably damaging |
Het |
Spata20 |
G |
A |
11: 94,374,867 (GRCm39) |
A245V |
probably benign |
Het |
Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
Sucnr1 |
A |
G |
3: 59,994,117 (GRCm39) |
Q215R |
probably benign |
Het |
Supv3l1 |
G |
A |
10: 62,266,394 (GRCm39) |
A594V |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,286,815 (GRCm39) |
F226I |
probably benign |
Het |
Taar7f |
A |
G |
10: 23,925,885 (GRCm39) |
T160A |
possibly damaging |
Het |
Tada2a |
A |
T |
11: 84,017,812 (GRCm39) |
|
probably null |
Het |
Taok3 |
C |
A |
5: 117,388,974 (GRCm39) |
Q460K |
probably damaging |
Het |
Tasor |
T |
A |
14: 27,193,602 (GRCm39) |
V934E |
probably damaging |
Het |
Twf2 |
A |
G |
9: 106,091,597 (GRCm39) |
E268G |
probably damaging |
Het |
Upf2 |
A |
T |
2: 6,023,743 (GRCm39) |
I698F |
unknown |
Het |
Vmn2r35 |
T |
A |
7: 7,820,013 (GRCm39) |
N86Y |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,227,982 (GRCm39) |
T85A |
possibly damaging |
Het |
Vps13d |
A |
G |
4: 144,832,426 (GRCm39) |
S2833P |
|
Het |
Xrn1 |
T |
C |
9: 95,933,682 (GRCm39) |
S1584P |
probably benign |
Het |
Zfp354b |
T |
C |
11: 50,813,224 (GRCm39) |
Y567C |
probably damaging |
Het |
Zfp52 |
A |
T |
17: 21,781,132 (GRCm39) |
R327* |
probably null |
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 |
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'- CTGAGAGATACCAAGTACTCTGC -3'
(R):5'- AAACCTGGGCTGTGACAGAG -3'
Sequencing Primer
(F):5'- AGATACCAAGTACTCTGCTTGCTTTC -3'
(R):5'- CTGTGACAGAGAAGGGGCATG -3'
|
Posted On |
2019-10-07 |