Incidental Mutation 'R3747:Sgms1'
| ID |
309903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgms1
|
| Ensembl Gene |
ENSMUSG00000040451 |
| Gene Name |
sphingomyelin synthase 1 |
| Synonyms |
SMS1beta, SMS1gamma, SMS1alpha2, 9530058O11Rik, SMS1, Tmem23, SMS1alpha1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R3747 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
32100127-32367114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32136994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 191
(S191T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099514]
[ENSMUST00000134415]
[ENSMUST00000142618]
[ENSMUST00000151289]
[ENSMUST00000152340]
[ENSMUST00000151822]
|
| AlphaFold |
Q8VCQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099514
AA Change: S191T
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097114
Gene: ENSMUSG00000040451
AA Change: S191T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
1.3e-6 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
Pfam:PAP2
|
216 |
362 |
4.5e-10 |
PFAM |
|
Pfam:PAP2_C
|
282 |
355 |
4.9e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131768
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134415
AA Change: S191T
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115785
Gene: ENSMUSG00000040451
AA Change: S191T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
4.3e-7 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141655
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142618
AA Change: S191T
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117336
Gene: ENSMUSG00000040451
AA Change: S191T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
1.3e-6 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
Pfam:PAP2
|
216 |
362 |
4.5e-10 |
PFAM |
|
Pfam:PAP2_C
|
282 |
355 |
4.9e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151289
AA Change: S191T
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123395
Gene: ENSMUSG00000040451
AA Change: S191T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
1.5e-6 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
Pfam:PAP2_C
|
282 |
355 |
1.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152340
AA Change: S191T
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119869
Gene: ENSMUSG00000040451
AA Change: S191T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
4.7e-7 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151822
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, impaired insulin tolerance, increased insulin sensitivity, decreased insulin secretion, and abnormal pancreatic islet cell mitochondria morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abhd18 |
A |
G |
3: 40,888,008 (GRCm39) |
N284S |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
| Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
| Aga |
T |
A |
8: 53,970,856 (GRCm39) |
I192N |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
| Alk |
A |
G |
17: 72,218,560 (GRCm39) |
S762P |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cby3 |
T |
C |
11: 50,250,501 (GRCm39) |
*236R |
probably null |
Het |
| Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
| Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,378,881 (GRCm39) |
K380M |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
| Dazap1 |
C |
T |
10: 80,123,498 (GRCm39) |
R391C |
possibly damaging |
Het |
| Dgkh |
T |
A |
14: 78,821,885 (GRCm39) |
E876V |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
| Fam43a |
C |
T |
16: 30,420,664 (GRCm39) |
T416I |
probably benign |
Het |
| Fam90a1a |
C |
A |
8: 22,453,221 (GRCm39) |
S192* |
probably null |
Het |
| Foxd1 |
G |
C |
13: 98,492,424 (GRCm39) |
A433P |
unknown |
Het |
| Garin4 |
T |
G |
1: 190,896,207 (GRCm39) |
Q145H |
probably damaging |
Het |
| Gm10152 |
G |
A |
7: 144,316,937 (GRCm39) |
|
probably null |
Het |
| Hipk3 |
T |
A |
2: 104,271,628 (GRCm39) |
R435* |
probably null |
Het |
| Hnrnpab |
T |
A |
11: 51,493,473 (GRCm39) |
Y245F |
probably benign |
Het |
| Islr2 |
A |
T |
9: 58,106,925 (GRCm39) |
S112T |
probably benign |
Het |
| Itgb7 |
A |
T |
15: 102,131,212 (GRCm39) |
V280D |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,507,817 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,234,182 (GRCm39) |
D51G |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,253,561 (GRCm39) |
P939L |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,465,201 (GRCm39) |
I257T |
probably benign |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,795 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,785,041 (GRCm39) |
I2064T |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,810,435 (GRCm39) |
R90G |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
| Ppil4 |
A |
T |
10: 7,690,457 (GRCm39) |
Q370L |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
| Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
| Rb1cc1 |
T |
G |
1: 6,318,966 (GRCm39) |
V778G |
possibly damaging |
Het |
| Sned1 |
T |
A |
1: 93,189,473 (GRCm39) |
F303Y |
probably damaging |
Het |
| Sp9 |
T |
A |
2: 73,104,652 (GRCm39) |
M402K |
probably damaging |
Het |
| Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,004 (GRCm39) |
I436T |
probably benign |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,066,871 (GRCm39) |
Y226H |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
| Yipf4 |
G |
A |
17: 74,803,667 (GRCm39) |
|
probably null |
Het |
| Zdhhc17 |
T |
C |
10: 110,780,281 (GRCm39) |
I624M |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
possibly damaging |
Het |
|
| Other mutations in Sgms1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Sgms1
|
APN |
19 |
32,137,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01585:Sgms1
|
APN |
19 |
32,120,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Sgms1
|
APN |
19 |
32,137,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02970:Sgms1
|
APN |
19 |
32,137,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1051:Sgms1
|
UTSW |
19 |
32,137,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Sgms1
|
UTSW |
19 |
32,137,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1971:Sgms1
|
UTSW |
19 |
32,137,357 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2001:Sgms1
|
UTSW |
19 |
32,137,083 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2404:Sgms1
|
UTSW |
19 |
32,137,072 (GRCm39) |
nonsense |
probably null |
|
|
R2405:Sgms1
|
UTSW |
19 |
32,137,072 (GRCm39) |
nonsense |
probably null |
|
|
R2408:Sgms1
|
UTSW |
19 |
32,137,072 (GRCm39) |
nonsense |
probably null |
|
|
R2410:Sgms1
|
UTSW |
19 |
32,137,072 (GRCm39) |
nonsense |
probably null |
|
|
R4016:Sgms1
|
UTSW |
19 |
32,120,192 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4710:Sgms1
|
UTSW |
19 |
32,137,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Sgms1
|
UTSW |
19 |
32,137,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Sgms1
|
UTSW |
19 |
32,137,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6023:Sgms1
|
UTSW |
19 |
32,101,773 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6106:Sgms1
|
UTSW |
19 |
32,101,825 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6932:Sgms1
|
UTSW |
19 |
32,120,193 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7207:Sgms1
|
UTSW |
19 |
32,120,147 (GRCm39) |
missense |
probably null |
1.00 |
|
R7382:Sgms1
|
UTSW |
19 |
32,137,182 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7494:Sgms1
|
UTSW |
19 |
32,107,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7712:Sgms1
|
UTSW |
19 |
32,120,169 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7759:Sgms1
|
UTSW |
19 |
32,137,276 (GRCm39) |
missense |
probably benign |
|
|
R7872:Sgms1
|
UTSW |
19 |
32,102,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8283:Sgms1
|
UTSW |
19 |
32,137,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Sgms1
|
UTSW |
19 |
32,101,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8487:Sgms1
|
UTSW |
19 |
32,102,697 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8507:Sgms1
|
UTSW |
19 |
32,137,109 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9007:Sgms1
|
UTSW |
19 |
32,137,227 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9182:Sgms1
|
UTSW |
19 |
32,101,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTTCAATTAGTTCCATGGGTG -3'
(R):5'- TCCCAGTATCCCATGGAGTG -3'
Sequencing Primer
(F):5'- GGGAATTCCTAAGCTTTGATTTCAAC -3'
(R):5'- GAGTGGGGCAAGACTTTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation