Incidental Mutation 'R7207:Sidt2'
| ID |
560706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sidt2
|
| Ensembl Gene |
ENSMUSG00000034908 |
| Gene Name |
SID1 transmembrane family, member 2 |
| Synonyms |
CGI-40 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R7207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45856449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 492
(Y492C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038488]
[ENSMUST00000114573]
[ENSMUST00000160138]
[ENSMUST00000160618]
[ENSMUST00000162072]
[ENSMUST00000162379]
[ENSMUST00000162529]
|
| AlphaFold |
Q8CIF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038488
AA Change: Y471C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044290
Gene: ENSMUSG00000034908
AA Change: Y471C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:SID-1_RNA_chan
|
169 |
832 |
8.5e-214 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114573
AA Change: Y492C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110220
Gene: ENSMUSG00000034908
AA Change: Y492C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:SID-1_RNA_chan
|
169 |
853 |
9e-290 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159033
|
| SMART Domains |
Protein: ENSMUSP00000125273
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
29 |
N/A |
INTRINSIC |
|
Pfam:SID-1_RNA_chan
|
30 |
74 |
1e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160138
|
| SMART Domains |
Protein: ENSMUSP00000124945
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160618
|
| SMART Domains |
Protein: ENSMUSP00000125037
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161042
|
| SMART Domains |
Protein: ENSMUSP00000124577
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161606
|
| SMART Domains |
Protein: ENSMUSP00000125660
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SID-1_RNA_chan
|
1 |
221 |
4.7e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162072
|
| SMART Domains |
Protein: ENSMUSP00000124750
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:SID-1_RNA_chan
|
169 |
338 |
2.3e-34 |
PFAM |
|
low complexity region
|
452 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162379
|
| SMART Domains |
Protein: ENSMUSP00000124503
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SID-1_RNA_chan
|
1 |
135 |
3.3e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162529
|
| SMART Domains |
Protein: ENSMUSP00000125060
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SID-1_RNA_chan
|
1 |
135 |
9.2e-20 |
PFAM |
|
low complexity region
|
202 |
213 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,527,734 (GRCm39) |
Y1019H |
probably benign |
Het |
| Adam11 |
C |
A |
11: 102,662,883 (GRCm39) |
A212D |
probably benign |
Het |
| Adamts13 |
C |
A |
2: 26,868,707 (GRCm39) |
H230Q |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,457,874 (GRCm39) |
M1I |
probably null |
Het |
| Agap1 |
A |
T |
1: 89,770,821 (GRCm39) |
H657L |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,611,768 (GRCm39) |
D238G |
probably damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,357,018 (GRCm39) |
I589F |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,717,000 (GRCm39) |
A859T |
possibly damaging |
Het |
| Cdh20 |
C |
A |
1: 104,921,702 (GRCm39) |
D666E |
probably damaging |
Het |
| Cep135 |
T |
G |
5: 76,780,090 (GRCm39) |
D807E |
probably benign |
Het |
| Cldn13 |
G |
A |
5: 134,943,766 (GRCm39) |
H140Y |
probably benign |
Het |
| Cnksr1 |
G |
T |
4: 133,962,434 (GRCm39) |
Q155K |
possibly damaging |
Het |
| Col1a1 |
G |
A |
11: 94,829,352 (GRCm39) |
R121Q |
unknown |
Het |
| Coro6 |
G |
A |
11: 77,358,089 (GRCm39) |
A225T |
possibly damaging |
Het |
| Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
| Dhrs7b |
C |
A |
11: 60,746,623 (GRCm39) |
Y237* |
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,570,312 (GRCm39) |
F2303L |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,516 (GRCm39) |
D831E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,202,418 (GRCm39) |
S575P |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,992,170 (GRCm39) |
L289P |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,714,387 (GRCm39) |
N162S |
probably damaging |
Het |
| Fbf1 |
A |
T |
11: 116,040,300 (GRCm39) |
Y602N |
probably benign |
Het |
| Fgd4 |
A |
T |
16: 16,302,420 (GRCm39) |
M45K |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,222,438 (GRCm39) |
V2048I |
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,805,292 (GRCm39) |
V127A |
possibly damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,490 (GRCm39) |
I203N |
probably damaging |
Het |
| Harbi1 |
T |
C |
2: 91,542,790 (GRCm39) |
S84P |
probably damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,266 (GRCm39) |
S81P |
possibly damaging |
Het |
| Iars1 |
T |
C |
13: 49,841,791 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,359,083 (GRCm39) |
*1087W |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,848,877 (GRCm39) |
N241I |
probably damaging |
Het |
| Lig4 |
T |
A |
8: 10,022,101 (GRCm39) |
K560* |
probably null |
Het |
| Lpin3 |
G |
T |
2: 160,735,923 (GRCm39) |
E68* |
probably null |
Het |
| Mrtfb |
A |
T |
16: 13,144,300 (GRCm39) |
I7L |
probably benign |
Het |
| Msrb3 |
A |
T |
10: 120,627,305 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,416,602 (GRCm39) |
T3183A |
probably benign |
Het |
| Mx1 |
T |
A |
16: 97,253,398 (GRCm39) |
D342V |
probably benign |
Het |
| Nrap |
G |
T |
19: 56,333,953 (GRCm39) |
T1003K |
probably damaging |
Het |
| Or8u10 |
A |
G |
2: 85,915,159 (GRCm39) |
S321P |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,327 (GRCm39) |
P87L |
probably damaging |
Het |
| Pms2 |
C |
T |
5: 143,850,452 (GRCm39) |
T89I |
probably damaging |
Het |
| Ppp1r12c |
C |
A |
7: 4,492,867 (GRCm39) |
R203L |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,088,473 (GRCm39) |
T90A |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,357,013 (GRCm39) |
Q48* |
probably null |
Het |
| Rgs14 |
T |
C |
13: 55,531,047 (GRCm39) |
V417A |
probably benign |
Het |
| Sgms1 |
T |
A |
19: 32,120,147 (GRCm39) |
K253M |
probably null |
Het |
| Slco1a5 |
G |
T |
6: 142,194,475 (GRCm39) |
Y389* |
probably null |
Het |
| Slfn14 |
G |
A |
11: 83,170,214 (GRCm39) |
Q477* |
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,438,934 (GRCm39) |
K142R |
probably damaging |
Het |
| Sphk1 |
A |
T |
11: 116,426,590 (GRCm39) |
D182V |
probably damaging |
Het |
| Srsf9 |
C |
G |
5: 115,465,481 (GRCm39) |
Y38* |
probably null |
Het |
| Stk40 |
A |
C |
4: 126,019,547 (GRCm39) |
E107A |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,538,101 (GRCm39) |
Y89C |
possibly damaging |
Het |
| Tead1 |
G |
A |
7: 112,441,287 (GRCm39) |
R109H |
possibly damaging |
Het |
| Thra |
A |
G |
11: 98,651,802 (GRCm39) |
Q108R |
probably damaging |
Het |
| Tnni3k |
G |
A |
3: 154,580,782 (GRCm39) |
T621I |
probably damaging |
Het |
| Trim3 |
A |
C |
7: 105,262,583 (GRCm39) |
V525G |
possibly damaging |
Het |
| Usp49 |
T |
C |
17: 47,989,802 (GRCm39) |
V529A |
probably benign |
Het |
| Vill |
A |
T |
9: 118,900,281 (GRCm39) |
Q849L |
possibly damaging |
Het |
| Vps36 |
T |
A |
8: 22,701,623 (GRCm39) |
S237T |
probably benign |
Het |
| Zar1l |
A |
T |
5: 150,430,558 (GRCm39) |
C284* |
probably null |
Het |
| Zfp948 |
T |
C |
17: 21,808,602 (GRCm39) |
V598A |
possibly damaging |
Het |
| Zfp952 |
T |
C |
17: 33,222,489 (GRCm39) |
Y323H |
possibly damaging |
Het |
|
| Other mutations in Sidt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Sidt2
|
APN |
9 |
45,853,534 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL00586:Sidt2
|
APN |
9 |
45,854,350 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00786:Sidt2
|
APN |
9 |
45,861,101 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01069:Sidt2
|
APN |
9 |
45,854,375 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01160:Sidt2
|
APN |
9 |
45,854,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01474:Sidt2
|
APN |
9 |
45,858,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02068:Sidt2
|
APN |
9 |
45,856,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02171:Sidt2
|
APN |
9 |
45,864,068 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02312:Sidt2
|
APN |
9 |
45,858,299 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02344:Sidt2
|
APN |
9 |
45,856,590 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03030:Sidt2
|
APN |
9 |
45,850,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Sidt2
|
APN |
9 |
45,853,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0157:Sidt2
|
UTSW |
9 |
45,850,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Sidt2
|
UTSW |
9 |
45,866,200 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0549:Sidt2
|
UTSW |
9 |
45,864,417 (GRCm39) |
splice site |
probably null |
|
|
R0714:Sidt2
|
UTSW |
9 |
45,858,358 (GRCm39) |
splice site |
probably benign |
|
|
R1241:Sidt2
|
UTSW |
9 |
45,857,002 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1511:Sidt2
|
UTSW |
9 |
45,861,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1558:Sidt2
|
UTSW |
9 |
45,863,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Sidt2
|
UTSW |
9 |
45,864,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2152:Sidt2
|
UTSW |
9 |
45,856,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Sidt2
|
UTSW |
9 |
45,856,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Sidt2
|
UTSW |
9 |
45,856,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Sidt2
|
UTSW |
9 |
45,854,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4349:Sidt2
|
UTSW |
9 |
45,857,011 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4855:Sidt2
|
UTSW |
9 |
45,863,327 (GRCm39) |
missense |
probably benign |
|
|
R5069:Sidt2
|
UTSW |
9 |
45,850,759 (GRCm39) |
splice site |
probably null |
|
|
R5175:Sidt2
|
UTSW |
9 |
45,863,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Sidt2
|
UTSW |
9 |
45,866,075 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5544:Sidt2
|
UTSW |
9 |
45,855,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5805:Sidt2
|
UTSW |
9 |
45,853,497 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5927:Sidt2
|
UTSW |
9 |
45,855,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6954:Sidt2
|
UTSW |
9 |
45,864,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7060:Sidt2
|
UTSW |
9 |
45,864,544 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7117:Sidt2
|
UTSW |
9 |
45,864,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7317:Sidt2
|
UTSW |
9 |
45,854,988 (GRCm39) |
nonsense |
probably null |
|
|
R7765:Sidt2
|
UTSW |
9 |
45,852,873 (GRCm39) |
splice site |
probably null |
|
|
R8098:Sidt2
|
UTSW |
9 |
45,857,028 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9039:Sidt2
|
UTSW |
9 |
45,856,648 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9157:Sidt2
|
UTSW |
9 |
45,852,658 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9160:Sidt2
|
UTSW |
9 |
45,858,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9261:Sidt2
|
UTSW |
9 |
45,861,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9313:Sidt2
|
UTSW |
9 |
45,852,658 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9641:Sidt2
|
UTSW |
9 |
45,864,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Sidt2
|
UTSW |
9 |
45,850,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9793:Sidt2
|
UTSW |
9 |
45,850,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9803:Sidt2
|
UTSW |
9 |
45,854,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Sidt2
|
UTSW |
9 |
45,850,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCATAGGTCCCACCCAG -3'
(R):5'- ATACCTCTGTGTGGCTGATCTG -3'
Sequencing Primer
(F):5'- ATAGGTCCCACCCAGCTTCATG -3'
(R):5'- TGGCTGATCTGGCACGAAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation