Incidental Mutation 'IGL00433:Cass4'
| ID |
6952 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cass4
|
| Ensembl Gene |
ENSMUSG00000074570 |
| Gene Name |
Cas scaffolding protein family member 4 |
| Synonyms |
F730031O20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172258170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 56
(L56P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099061]
[ENSMUST00000103073]
[ENSMUST00000109136]
[ENSMUST00000228775]
|
| AlphaFold |
Q08EC4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099061
AA Change: L56P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: L56P
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
14 |
72 |
5.65e-16 |
SMART |
|
low complexity region
|
392 |
428 |
N/A |
INTRINSIC |
|
Pfam:Serine_rich
|
433 |
591 |
4.2e-68 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103073
AA Change: L56P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: L56P
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
14 |
72 |
5.65e-16 |
SMART |
|
low complexity region
|
392 |
428 |
N/A |
INTRINSIC |
|
Pfam:Serine_rich
|
433 |
591 |
7.5e-69 |
PFAM |
|
Pfam:DUF3513
|
587 |
778 |
8.8e-60 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109136
AA Change: L56P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: L56P
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
14 |
72 |
5.65e-16 |
SMART |
|
low complexity region
|
392 |
428 |
N/A |
INTRINSIC |
|
Pfam:Serine_rich
|
433 |
589 |
3.8e-58 |
PFAM |
|
Pfam:DUF3513
|
593 |
803 |
1.6e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228775
AA Change: L56P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,009,300 (GRCm39) |
V238A |
probably benign |
Het |
| Bfar |
G |
A |
16: 13,516,827 (GRCm39) |
D350N |
probably benign |
Het |
| C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,029,657 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
| Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
| Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
| Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
| Csrp3 |
T |
C |
7: 48,480,440 (GRCm39) |
N175D |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
| Leo1 |
C |
T |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
| Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,363 (GRCm39) |
|
probably null |
Het |
| Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,258,735 (GRCm39) |
Q569* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
| Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,342,973 (GRCm39) |
G303D |
probably damaging |
Het |
|
| Other mutations in Cass4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Cass4
|
APN |
2 |
172,271,643 (GRCm39) |
intron |
probably benign |
|
|
IGL01400:Cass4
|
APN |
2 |
172,269,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01985:Cass4
|
APN |
2 |
172,269,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Cass4
|
APN |
2 |
172,268,962 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02592:Cass4
|
APN |
2 |
172,258,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0030:Cass4
|
UTSW |
2 |
172,269,762 (GRCm39) |
nonsense |
probably null |
|
|
R0035:Cass4
|
UTSW |
2 |
172,258,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0039:Cass4
|
UTSW |
2 |
172,268,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Cass4
|
UTSW |
2 |
172,274,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1321:Cass4
|
UTSW |
2 |
172,266,572 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1352:Cass4
|
UTSW |
2 |
172,258,415 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1612:Cass4
|
UTSW |
2 |
172,268,998 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1720:Cass4
|
UTSW |
2 |
172,269,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1776:Cass4
|
UTSW |
2 |
172,269,615 (GRCm39) |
missense |
probably benign |
|
|
R1918:Cass4
|
UTSW |
2 |
172,269,259 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2257:Cass4
|
UTSW |
2 |
172,274,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Cass4
|
UTSW |
2 |
172,269,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2262:Cass4
|
UTSW |
2 |
172,269,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2924:Cass4
|
UTSW |
2 |
172,268,592 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3498:Cass4
|
UTSW |
2 |
172,274,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3499:Cass4
|
UTSW |
2 |
172,274,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:Cass4
|
UTSW |
2 |
172,274,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3793:Cass4
|
UTSW |
2 |
172,274,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Cass4
|
UTSW |
2 |
172,274,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4899:Cass4
|
UTSW |
2 |
172,269,789 (GRCm39) |
missense |
probably benign |
|
|
R5161:Cass4
|
UTSW |
2 |
172,274,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Cass4
|
UTSW |
2 |
172,268,688 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5646:Cass4
|
UTSW |
2 |
172,258,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5799:Cass4
|
UTSW |
2 |
172,258,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Cass4
|
UTSW |
2 |
172,268,688 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6084:Cass4
|
UTSW |
2 |
172,268,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6360:Cass4
|
UTSW |
2 |
172,274,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6432:Cass4
|
UTSW |
2 |
172,269,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Cass4
|
UTSW |
2 |
172,269,889 (GRCm39) |
missense |
unknown |
|
|
R7212:Cass4
|
UTSW |
2 |
172,269,106 (GRCm39) |
nonsense |
probably null |
|
|
R7549:Cass4
|
UTSW |
2 |
172,268,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7549:Cass4
|
UTSW |
2 |
172,268,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7594:Cass4
|
UTSW |
2 |
172,271,568 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7659:Cass4
|
UTSW |
2 |
172,268,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8003:Cass4
|
UTSW |
2 |
172,269,879 (GRCm39) |
missense |
unknown |
|
|
R8270:Cass4
|
UTSW |
2 |
172,269,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Cass4
|
UTSW |
2 |
172,269,094 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8378:Cass4
|
UTSW |
2 |
172,269,714 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9332:Cass4
|
UTSW |
2 |
172,269,806 (GRCm39) |
missense |
probably benign |
|
|
R9340:Cass4
|
UTSW |
2 |
172,268,686 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9485:Cass4
|
UTSW |
2 |
172,269,805 (GRCm39) |
missense |
probably benign |
|
|
R9522:Cass4
|
UTSW |
2 |
172,269,348 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9683:Cass4
|
UTSW |
2 |
172,268,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9720:Cass4
|
UTSW |
2 |
172,269,568 (GRCm39) |
missense |
probably benign |
|
|
R9784:Cass4
|
UTSW |
2 |
172,269,753 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Cass4
|
UTSW |
2 |
172,269,495 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation