Incidental Mutation 'R8003:Cass4'
| ID |
616441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cass4
|
| Ensembl Gene |
ENSMUSG00000074570 |
| Gene Name |
Cas scaffolding protein family member 4 |
| Synonyms |
F730031O20Rik |
| MMRRC Submission |
046043-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172269879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 654
(F654L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099061]
[ENSMUST00000103073]
[ENSMUST00000109136]
[ENSMUST00000228775]
|
| AlphaFold |
Q08EC4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000099061
AA Change: F654L
|
| SMART Domains |
Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: F654L
| 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 benign
Transcript: ENSMUST00000103073
|
| SMART Domains |
Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
| 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 benign
Transcript: ENSMUST00000109136
|
| SMART Domains |
Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
| 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 benign
Transcript: ENSMUST00000228775
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
G |
14: 56,019,092 (GRCm39) |
V155A |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,695,208 (GRCm39) |
Y527C |
probably damaging |
Het |
| Brca1 |
C |
T |
11: 101,415,303 (GRCm39) |
G944R |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,687,286 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
T |
18: 21,977,944 (GRCm39) |
|
probably null |
Het |
| Cct4 |
T |
C |
11: 22,946,040 (GRCm39) |
|
probably null |
Het |
| Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
| Col5a1 |
G |
A |
2: 27,848,340 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,703,455 (GRCm39) |
N3037K |
unknown |
Het |
| Csmd2 |
T |
A |
4: 128,432,980 (GRCm39) |
C3012* |
probably null |
Het |
| Dclk2 |
T |
C |
3: 86,700,608 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
| Eif2ak2 |
C |
A |
17: 79,183,652 (GRCm39) |
A66S |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,361,782 (GRCm39) |
|
probably null |
Het |
| Fbxw10 |
T |
G |
11: 62,748,587 (GRCm39) |
C405G |
possibly damaging |
Het |
| Galnt13 |
G |
T |
2: 54,950,497 (GRCm39) |
G393* |
probably null |
Het |
| Gm5591 |
G |
T |
7: 38,219,183 (GRCm39) |
H563Q |
probably damaging |
Het |
| Gtf3c5 |
A |
G |
2: 28,459,373 (GRCm39) |
I394T |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,477,581 (GRCm39) |
A2835T |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,818,652 (GRCm39) |
D2781G |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,268,802 (GRCm39) |
H2642Q |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,354,684 (GRCm39) |
D754E |
probably damaging |
Het |
| Lrpprc |
A |
C |
17: 85,059,745 (GRCm39) |
S690A |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,976,193 (GRCm39) |
T805A |
probably benign |
Het |
| Mthfd1l |
T |
G |
10: 3,934,147 (GRCm39) |
S160A |
probably benign |
Het |
| Mtmr6 |
G |
A |
14: 60,519,544 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,158,488 (GRCm39) |
M698K |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,190,586 (GRCm39) |
L1304M |
probably damaging |
Het |
| Mylip |
T |
A |
13: 45,557,947 (GRCm39) |
V117E |
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,165,129 (GRCm39) |
Q1061R |
probably benign |
Het |
| Or12e13 |
A |
G |
2: 87,664,081 (GRCm39) |
R233G |
probably benign |
Het |
| Or5d37 |
A |
T |
2: 87,923,589 (GRCm39) |
Y230* |
probably null |
Het |
| Pkd2l2 |
G |
A |
18: 34,561,232 (GRCm39) |
M413I |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,138,980 (GRCm39) |
G19D |
unknown |
Het |
| Pramel17 |
T |
C |
4: 101,693,130 (GRCm39) |
K290R |
probably benign |
Het |
| Psg22 |
A |
C |
7: 18,458,350 (GRCm39) |
Y347S |
probably damaging |
Het |
| Ptpre |
C |
A |
7: 135,270,765 (GRCm39) |
Q314K |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,032,144 (GRCm39) |
S54P |
probably damaging |
Het |
| Sbds |
C |
A |
5: 130,279,726 (GRCm39) |
V130F |
possibly damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc24a2 |
A |
T |
4: 87,094,552 (GRCm39) |
D322E |
probably benign |
Het |
| Slc45a4 |
G |
T |
15: 73,457,162 (GRCm39) |
Y585* |
probably null |
Het |
| Slc7a4 |
A |
C |
16: 17,392,315 (GRCm39) |
V373G |
possibly damaging |
Het |
| Sulf1 |
G |
A |
1: 12,908,825 (GRCm39) |
V613M |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,472,434 (GRCm39) |
D150G |
probably damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,551,900 (GRCm39) |
V888F |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,608 (GRCm39) |
H112R |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,711 (GRCm39) |
I21T |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,149,654 (GRCm39) |
A286E |
possibly damaging |
Het |
| Wnt8b |
T |
A |
19: 44,500,396 (GRCm39) |
C328S |
probably damaging |
Het |
| Ybx3 |
A |
T |
6: 131,345,400 (GRCm39) |
Y324* |
probably null |
Het |
| Zmynd15 |
T |
A |
11: 70,351,767 (GRCm39) |
H124Q |
probably benign |
Het |
|
| Other mutations in Cass4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Cass4
|
APN |
2 |
172,258,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGTGTGAGAGATGCATCC -3'
(R):5'- GTATAAGGACCTGGGCTCAACC -3'
Sequencing Primer
(F):5'- TGAGAGATGCATCCGGCCTC -3'
(R):5'- GCACAAGCCTGTCTCTCCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation