Incidental Mutation 'R8500:Schip1'
| ID |
658458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Schip1
|
| Ensembl Gene |
ENSMUSG00000027777 |
| Gene Name |
schwannomin interacting protein 1 |
| Synonyms |
SCHIP-1 |
| MMRRC Submission |
067942-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.604)
|
| Stock # |
R8500 (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: 99.8%
- 20x: 99.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,871,836 (GRCm39) |
S56N |
probably benign |
Het |
| Atg16l2 |
T |
G |
7: 100,939,473 (GRCm39) |
D542A |
probably damaging |
Het |
| Blm |
A |
G |
7: 80,105,032 (GRCm39) |
L1412P |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,052,097 (GRCm39) |
D314G |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,573,213 (GRCm39) |
M39L |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,517,133 (GRCm39) |
D2849V |
probably damaging |
Het |
| Fam53c |
A |
G |
18: 34,901,854 (GRCm39) |
E257G |
probably damaging |
Het |
| Fmo9 |
A |
T |
1: 166,502,039 (GRCm39) |
N144K |
probably damaging |
Het |
| Gabrd |
T |
A |
4: 155,470,148 (GRCm39) |
M354L |
probably benign |
Het |
| Gm5773 |
A |
T |
3: 93,680,835 (GRCm39) |
D169V |
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,599,774 (GRCm39) |
F703L |
probably damaging |
Het |
| Grm3 |
A |
T |
5: 9,561,726 (GRCm39) |
I708N |
probably benign |
Het |
| Hlcs |
G |
A |
16: 94,063,617 (GRCm39) |
P481L |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,314,311 (GRCm39) |
Y43C |
|
Het |
| Igf2r |
A |
G |
17: 12,928,328 (GRCm39) |
L1005P |
probably damaging |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,759,834 (GRCm39) |
N92D |
possibly damaging |
Het |
| Invs |
A |
G |
4: 48,422,109 (GRCm39) |
K914E |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,389,813 (GRCm39) |
|
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,999,660 (GRCm39) |
T103A |
probably benign |
Het |
| Lipo5 |
C |
T |
19: 33,441,849 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
T |
C |
11: 60,595,809 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
T |
C |
8: 36,698,292 (GRCm39) |
E402G |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,396,791 (GRCm39) |
Y311F |
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,146,208 (GRCm39) |
W341R |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,882,016 (GRCm39) |
I117T |
|
Het |
| Mmp9 |
T |
C |
2: 164,795,486 (GRCm39) |
V668A |
possibly damaging |
Het |
| Naip5 |
A |
C |
13: 100,359,220 (GRCm39) |
M672R |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,431,445 (GRCm39) |
L664Q |
probably damaging |
Het |
| Nol4l |
T |
C |
2: 153,278,266 (GRCm39) |
D234G |
probably damaging |
Het |
| Or5t16 |
T |
C |
2: 86,818,822 (GRCm39) |
K233E |
probably damaging |
Het |
| Oscp1 |
T |
A |
4: 125,971,203 (GRCm39) |
H170Q |
possibly damaging |
Het |
| Pard3 |
T |
A |
8: 128,186,784 (GRCm39) |
M1021K |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,774,302 (GRCm39) |
|
probably null |
Het |
| Plcxd2 |
T |
C |
16: 45,800,949 (GRCm39) |
K92E |
probably damaging |
Het |
| Ptpdc1 |
A |
T |
13: 48,739,759 (GRCm39) |
C557* |
probably null |
Het |
| Robo2 |
G |
A |
16: 73,745,228 (GRCm39) |
T849I |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,416,813 (GRCm39) |
I1433N |
possibly damaging |
Het |
| Scarb1 |
A |
G |
5: 125,371,227 (GRCm39) |
S282P |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,125,039 (GRCm39) |
S357T |
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,249,216 (GRCm39) |
M1K |
probably null |
Het |
| Slc1a3 |
T |
C |
15: 8,671,853 (GRCm39) |
T368A |
probably damaging |
Het |
| Slc66a1 |
A |
G |
4: 139,027,440 (GRCm39) |
|
probably benign |
Het |
| Taf11 |
A |
T |
17: 28,121,594 (GRCm39) |
I138N |
probably damaging |
Het |
| Tnfaip8l1 |
C |
T |
17: 56,478,749 (GRCm39) |
A13V |
probably damaging |
Het |
| Trav6-2 |
T |
G |
14: 52,905,092 (GRCm39) |
F38V |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,638 (GRCm39) |
V440A |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,826,691 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,538,828 (GRCm39) |
C205* |
probably null |
Het |
| Zfp735 |
C |
G |
11: 73,601,811 (GRCm39) |
L252V |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,334,454 (GRCm39) |
L188Q |
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 |
|
R8496: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