Incidental Mutation 'IGL01431:Schip1'
| ID |
84126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Schip1
|
| Ensembl Gene |
ENSMUSG00000027777 |
| Gene Name |
schwannomin interacting protein 1 |
| Synonyms |
SCHIP-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.618)
|
| Stock # |
IGL01431
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
67972135-68533814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68525110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 162
(Q162L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029346]
[ENSMUST00000169909]
[ENSMUST00000170788]
[ENSMUST00000182006]
[ENSMUST00000182532]
[ENSMUST00000182719]
[ENSMUST00000182997]
[ENSMUST00000192555]
|
| AlphaFold |
P0DPB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029346
AA Change: Q385L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: Q385L
| 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 |
possibly damaging
Transcript: ENSMUST00000169909
AA Change: Q157L
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777
AA Change: Q157L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCHIP-1
|
20 |
256 |
4.3e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170788
AA Change: Q145L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126443
Gene: ENSMUSG00000027777
AA Change: Q145L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCHIP-1
|
8 |
244 |
3e-155 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182006
AA Change: Q460L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: Q460L
| 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 |
possibly damaging
Transcript: ENSMUST00000182532
AA Change: Q357L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: Q357L
| 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 |
possibly damaging
Transcript: ENSMUST00000182719
AA Change: Q357L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: Q357L
| 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: ENSMUST00000182997
AA Change: Q162L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138241
Gene: ENSMUSG00000027777
AA Change: Q162L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCHIP-1
|
25 |
261 |
8.4e-155 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192555
AA Change: Q357L
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: Q357L
| 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 |
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,089,838 (GRCm39) |
I897T |
possibly damaging |
Het |
| Aqp2 |
G |
A |
15: 99,477,301 (GRCm39) |
V90M |
possibly damaging |
Het |
| Atf6 |
T |
C |
1: 170,680,571 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,274,301 (GRCm39) |
Y607H |
probably damaging |
Het |
| Cer1 |
T |
A |
4: 82,801,068 (GRCm39) |
E198D |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,453,278 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
C |
T |
1: 87,079,226 (GRCm39) |
R484H |
probably damaging |
Het |
| Entpd7 |
C |
A |
19: 43,718,278 (GRCm39) |
H575Q |
probably benign |
Het |
| F11r |
T |
C |
1: 171,290,477 (GRCm39) |
V279A |
probably damaging |
Het |
| Gm17093 |
T |
A |
14: 44,759,122 (GRCm39) |
|
probably benign |
Het |
| Got1 |
T |
A |
19: 43,491,488 (GRCm39) |
K321* |
probably null |
Het |
| Gpn1 |
T |
C |
5: 31,664,882 (GRCm39) |
V302A |
probably benign |
Het |
| Hivep1 |
G |
T |
13: 42,311,493 (GRCm39) |
K1244N |
probably damaging |
Het |
| Idh3b |
T |
C |
2: 130,123,817 (GRCm39) |
T116A |
possibly damaging |
Het |
| Itgb4 |
C |
A |
11: 115,897,283 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
G |
T |
1: 9,742,872 (GRCm39) |
L579I |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,263,782 (GRCm39) |
T1694S |
probably null |
Het |
| Mylk3 |
T |
C |
8: 86,063,030 (GRCm39) |
D537G |
probably damaging |
Het |
| Myo1d |
A |
C |
11: 80,565,665 (GRCm39) |
F387V |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,361,361 (GRCm39) |
Y448C |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,508 (GRCm39) |
H191Q |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,832,804 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
A |
T |
2: 111,055,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
T |
A |
1: 75,121,749 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
G |
A |
16: 94,129,402 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Robo3 |
G |
A |
9: 37,330,407 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
C |
A |
7: 102,106,759 (GRCm39) |
|
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,498,666 (GRCm39) |
R269S |
probably benign |
Het |
| Sbp |
A |
T |
17: 24,164,322 (GRCm39) |
|
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,980,144 (GRCm39) |
Y67C |
probably damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,309,103 (GRCm39) |
R233K |
probably damaging |
Het |
| Smoc1 |
C |
A |
12: 81,199,525 (GRCm39) |
S220* |
probably null |
Het |
| Stab1 |
C |
A |
14: 30,870,952 (GRCm39) |
R1299I |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,805,074 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
T |
G |
7: 118,151,985 (GRCm39) |
D312A |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,327 (GRCm39) |
S70P |
possibly damaging |
Het |
| Zfc3h1 |
C |
A |
10: 115,259,128 (GRCm39) |
T1591K |
possibly damaging |
Het |
|
| Other mutations in Schip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation