Incidental Mutation 'R5021:Schip1'
| ID |
389180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Schip1
|
| Ensembl Gene |
ENSMUSG00000027777 |
| Gene Name |
schwannomin interacting protein 1 |
| Synonyms |
SCHIP-1 |
| MMRRC Submission |
042612-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.604)
|
| Stock # |
R5021 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
67972135-68533814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68402585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 221
(T221A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029346]
[ENSMUST00000169909]
[ENSMUST00000182006]
[ENSMUST00000182532]
[ENSMUST00000182719]
[ENSMUST00000192555]
|
| AlphaFold |
P0DPB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029346
AA Change: T249A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: T249A
| 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 benign
Transcript: ENSMUST00000182006
AA Change: T324A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: T324A
| 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 benign
Transcript: ENSMUST00000182532
AA Change: T221A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: T221A
| 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 benign
Transcript: ENSMUST00000182719
AA Change: T221A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: T221A
| 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 benign
Transcript: ENSMUST00000192555
AA Change: T221A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: T221A
| 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 |
0.0675 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
95% (39/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
T |
7: 51,205,933 (GRCm39) |
T242S |
probably benign |
Het |
| B3gnt4 |
G |
C |
5: 123,649,010 (GRCm39) |
R125P |
probably damaging |
Het |
| Blvrb |
A |
C |
7: 27,147,543 (GRCm39) |
M1L |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,361,154 (GRCm39) |
H169Q |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,287,922 (GRCm39) |
K718* |
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,510,627 (GRCm39) |
N226S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,940,193 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
G |
A |
9: 56,805,014 (GRCm39) |
V1942I |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,301,980 (GRCm39) |
L250Q |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,136,758 (GRCm39) |
T1343A |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,621,513 (GRCm39) |
L45M |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fam184b |
T |
A |
5: 45,730,604 (GRCm39) |
Q476L |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,841,333 (GRCm39) |
D39G |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,832 (GRCm39) |
Y206H |
probably damaging |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,686 (GRCm39) |
I6V |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,833,059 (GRCm39) |
I131T |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,566,070 (GRCm39) |
D417V |
probably damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,970 (GRCm39) |
E38G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,228,302 (GRCm39) |
M1064V |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,867,157 (GRCm39) |
Q265* |
probably null |
Het |
| Mcf2l |
T |
G |
8: 13,061,808 (GRCm39) |
V893G |
probably damaging |
Het |
| Mlst8 |
C |
T |
17: 24,696,193 (GRCm39) |
D179N |
possibly damaging |
Het |
| Mup6 |
T |
A |
4: 59,964,352 (GRCm39) |
N18K |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,466,531 (GRCm39) |
R764W |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,869 (GRCm39) |
S1478R |
probably benign |
Het |
| Pcdhga1 |
C |
A |
18: 37,796,876 (GRCm39) |
R627S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,411,393 (GRCm39) |
D394G |
probably damaging |
Het |
| Slc35c1 |
A |
G |
2: 92,289,366 (GRCm39) |
Y47H |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,568,715 (GRCm39) |
D70G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,882,942 (GRCm39) |
Y270C |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,019,061 (GRCm39) |
V291A |
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 |
|
|
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 |
|
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'- AATGGCAACGTGGTGGTAGC -3'
(R):5'- CAAAATGAGTCGCGGGTTC -3'
Sequencing Primer
(F):5'- AACGTGGTGGTAGCTGGCC -3'
(R):5'- AAAATGAGTCGCGGGTTCCTCTAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation