Incidental Mutation 'R8496:Schip1'
| ID |
658261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Schip1
|
| Ensembl Gene |
ENSMUSG00000027777 |
| Gene Name |
schwannomin interacting protein 1 |
| Synonyms |
SCHIP-1 |
| MMRRC Submission |
067938-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.604)
|
| Stock # |
R8496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
67972135-68533814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 68401946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 36
(G36C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029346]
[ENSMUST00000169909]
[ENSMUST00000182006]
[ENSMUST00000182532]
[ENSMUST00000182719]
[ENSMUST00000192555]
|
| AlphaFold |
P0DPB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029346
AA Change: G36C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: G36C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
198 |
N/A |
INTRINSIC |
|
Pfam:SCHIP-1
|
252 |
481 |
3.1e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169909
|
| SMART Domains |
Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCHIP-1
|
20 |
256 |
4.3e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182006
AA Change: G111C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: G111C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IQ-like
|
1 |
97 |
1e-54 |
PFAM |
|
low complexity region
|
108 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
273 |
N/A |
INTRINSIC |
|
Pfam:SCHIP-1
|
323 |
559 |
9.8e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182532
AA Change: G8C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: G8C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
170 |
N/A |
INTRINSIC |
|
Pfam:SCHIP-1
|
220 |
456 |
6.6e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182719
AA Change: G8C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: G8C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
170 |
N/A |
INTRINSIC |
|
Pfam:SCHIP-1
|
220 |
456 |
6.6e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192555
AA Change: G8C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: G8C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
170 |
N/A |
INTRINSIC |
|
Pfam:SCHIP-1
|
220 |
388 |
1.1e-103 |
PFAM |
|
| Meta Mutation Damage Score |
0.0860 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality, skeletal and craniofacial defects and defective cell mirgration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,645,120 (GRCm39) |
E335G |
probably benign |
Het |
| Afp |
C |
T |
5: 90,639,572 (GRCm39) |
S34F |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,847,807 (GRCm39) |
I639N |
probably damaging |
Het |
| Atp13a1 |
T |
G |
8: 70,250,618 (GRCm39) |
V411G |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,309 (GRCm39) |
C383S |
probably damaging |
Het |
| Capn2 |
T |
C |
1: 182,304,840 (GRCm39) |
I556V |
probably benign |
Het |
| Cd34 |
A |
G |
1: 194,642,089 (GRCm39) |
E322G |
probably benign |
Het |
| Cel |
T |
C |
2: 28,446,200 (GRCm39) |
D557G |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,600,634 (GRCm39) |
I996V |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,453,182 (GRCm39) |
*514R |
probably null |
Het |
| Cry2 |
C |
G |
2: 92,257,284 (GRCm39) |
R95P |
probably damaging |
Het |
| Ctse |
T |
A |
1: 131,592,118 (GRCm39) |
I148N |
probably damaging |
Het |
| Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
| Dsn1 |
C |
T |
2: 156,839,640 (GRCm39) |
V254M |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,377 (GRCm39) |
D755G |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,761 (GRCm39) |
H104L |
possibly damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,117 (GRCm39) |
T65A |
possibly damaging |
Het |
| Gtse1 |
A |
G |
15: 85,746,283 (GRCm39) |
D33G |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,943,325 (GRCm39) |
Y455H |
probably benign |
Het |
| Kctd1 |
A |
T |
18: 15,107,228 (GRCm39) |
C150S |
probably damaging |
Het |
| Kctd11 |
T |
G |
11: 69,770,877 (GRCm39) |
T54P |
probably damaging |
Het |
| Kif1b |
C |
A |
4: 149,277,068 (GRCm39) |
G56* |
probably null |
Het |
| Kifap3 |
T |
A |
1: 163,656,866 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
T |
13: 100,349,247 (GRCm39) |
H1360Q |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,147,127 (GRCm39) |
E1198G |
probably damaging |
Het |
| Nova1 |
T |
A |
12: 46,760,325 (GRCm39) |
K90* |
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,396 (GRCm39) |
L179H |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,388 (GRCm39) |
H193Q |
probably damaging |
Het |
| Or1ad8 |
T |
C |
11: 50,897,877 (GRCm39) |
V26A |
probably benign |
Het |
| Or1s2 |
A |
G |
19: 13,758,384 (GRCm39) |
N136S |
probably benign |
Het |
| Palm |
C |
T |
10: 79,642,485 (GRCm39) |
T6I |
probably benign |
Het |
| Parp10 |
T |
A |
15: 76,117,749 (GRCm39) |
D879V |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,971,181 (GRCm39) |
V497A |
unknown |
Het |
| Pparg |
A |
G |
6: 115,440,112 (GRCm39) |
I199V |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,660 (GRCm39) |
I180N |
probably damaging |
Het |
| Prdx5 |
A |
T |
19: 6,885,542 (GRCm39) |
C37* |
probably null |
Het |
| Ptprz1 |
A |
T |
6: 22,972,797 (GRCm39) |
T236S |
probably damaging |
Het |
| Rab5b |
G |
A |
10: 128,518,776 (GRCm39) |
Q119* |
probably null |
Het |
| Rdh19 |
T |
A |
10: 127,695,469 (GRCm39) |
W228R |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,383 (GRCm39) |
V321A |
probably damaging |
Het |
| Slc6a5 |
T |
A |
7: 49,585,960 (GRCm39) |
V426D |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,178,896 (GRCm39) |
E4526V |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,268,441 (GRCm39) |
K2083E |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,241,547 (GRCm39) |
I2143F |
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,170 (GRCm39) |
D90G |
probably damaging |
Het |
| Ttll12 |
T |
C |
15: 83,462,010 (GRCm39) |
Y569C |
probably damaging |
Het |
| Zfp326 |
T |
G |
5: 106,036,451 (GRCm39) |
S121A |
probably damaging |
Het |
|
| Other mutations in Schip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Schip1
|
APN |
3 |
68,525,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03354:Schip1
|
APN |
3 |
68,402,298 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0190:Schip1
|
UTSW |
3 |
68,533,177 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0413:Schip1
|
UTSW |
3 |
68,401,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Schip1
|
UTSW |
3 |
68,402,375 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1777:Schip1
|
UTSW |
3 |
68,525,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2067:Schip1
|
UTSW |
3 |
68,525,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3027:Schip1
|
UTSW |
3 |
68,401,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Schip1
|
UTSW |
3 |
68,525,963 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4646:Schip1
|
UTSW |
3 |
67,972,297 (GRCm39) |
missense |
probably benign |
|
|
R4917:Schip1
|
UTSW |
3 |
68,315,818 (GRCm39) |
intron |
probably benign |
|
|
R4918:Schip1
|
UTSW |
3 |
68,315,818 (GRCm39) |
intron |
probably benign |
|
|
R5021:Schip1
|
UTSW |
3 |
68,402,585 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5194:Schip1
|
UTSW |
3 |
68,402,205 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5225:Schip1
|
UTSW |
3 |
68,402,270 (GRCm39) |
missense |
probably benign |
|
|
R5719:Schip1
|
UTSW |
3 |
68,315,560 (GRCm39) |
intron |
probably benign |
|
|
R6460:Schip1
|
UTSW |
3 |
68,402,227 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7189:Schip1
|
UTSW |
3 |
68,525,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Schip1
|
UTSW |
3 |
68,525,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Schip1
|
UTSW |
3 |
67,972,317 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7757:Schip1
|
UTSW |
3 |
68,525,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7793:Schip1
|
UTSW |
3 |
68,401,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8500:Schip1
|
UTSW |
3 |
68,401,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8904:Schip1
|
UTSW |
3 |
68,402,436 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9098:Schip1
|
UTSW |
3 |
67,972,318 (GRCm39) |
missense |
|
|
|
R9581:Schip1
|
UTSW |
3 |
68,525,060 (GRCm39) |
frame shift |
probably null |
|
|
R9582:Schip1
|
UTSW |
3 |
68,525,060 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCAACTTGTGCGGGGAG -3'
(R):5'- TTGCCATTGTGCCTGAGGTC -3'
Sequencing Primer
(F):5'- CTCAGGCTGCTGTTGGCTC -3'
(R):5'- GGACAGCCGTCATCCCGATAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation