Incidental Mutation 'R7659:Cass4'
ID |
591416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cass4
|
Ensembl Gene |
ENSMUSG00000074570 |
Gene Name |
Cas scaffolding protein family member 4 |
Synonyms |
F730031O20Rik |
MMRRC Submission |
045734-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7659 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 172268947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 343
(D343G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104764
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099061]
[ENSMUST00000103073]
[ENSMUST00000109136]
[ENSMUST00000228775]
|
AlphaFold |
Q08EC4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099061
AA Change: D343G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000096660 Gene: ENSMUSG00000074570 AA Change: D343G
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: D343G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099362 Gene: ENSMUSG00000074570 AA Change: D343G
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: D343G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104764 Gene: ENSMUSG00000074570 AA Change: D343G
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: D345G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh2 |
T |
C |
5: 121,707,023 (GRCm39) |
E498G |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,729,294 (GRCm39) |
T284A |
possibly damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atp6v0a4 |
A |
G |
6: 38,048,907 (GRCm39) |
I452T |
probably damaging |
Het |
Azgp1 |
G |
T |
5: 137,985,775 (GRCm39) |
A133S |
probably damaging |
Het |
Bmp2k |
T |
C |
5: 97,222,578 (GRCm39) |
S667P |
unknown |
Het |
C1qtnf9 |
T |
A |
14: 61,009,753 (GRCm39) |
I3N |
possibly damaging |
Het |
C530025M09Rik |
T |
G |
2: 149,672,539 (GRCm39) |
T199P |
unknown |
Het |
Casc3 |
C |
G |
11: 98,700,699 (GRCm39) |
R4G |
unknown |
Het |
Cenatac |
T |
C |
9: 44,324,790 (GRCm39) |
E164G |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,709,467 (GRCm39) |
T2517S |
unknown |
Het |
Dbr1 |
A |
G |
9: 99,458,663 (GRCm39) |
T78A |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,880,606 (GRCm39) |
F2664L |
probably damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,826,280 (GRCm39) |
I431T |
probably damaging |
Het |
Got1 |
A |
G |
19: 43,493,078 (GRCm39) |
V281A |
probably benign |
Het |
Gpld1 |
A |
C |
13: 25,163,964 (GRCm39) |
R555S |
probably benign |
Het |
Gpr149 |
T |
C |
3: 62,511,256 (GRCm39) |
R248G |
probably benign |
Het |
Hps3 |
G |
A |
3: 20,076,978 (GRCm39) |
R395* |
probably null |
Het |
Inpp5b |
T |
C |
4: 124,689,219 (GRCm39) |
L833P |
probably damaging |
Het |
Itgb4 |
A |
T |
11: 115,870,557 (GRCm39) |
S129C |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,974,542 (GRCm39) |
|
probably benign |
Het |
Lgr4 |
T |
A |
2: 109,827,111 (GRCm39) |
V205E |
probably damaging |
Het |
Mbd3 |
T |
C |
10: 80,231,019 (GRCm39) |
N96S |
probably damaging |
Het |
Mcam |
T |
A |
9: 44,048,067 (GRCm39) |
C136S |
unknown |
Het |
Mki67 |
A |
G |
7: 135,299,155 (GRCm39) |
S1960P |
probably damaging |
Het |
Mogs |
G |
A |
6: 83,093,806 (GRCm39) |
|
probably null |
Het |
Muc6 |
T |
C |
7: 141,216,973 (GRCm39) |
T2567A |
possibly damaging |
Het |
Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
Nae1 |
A |
G |
8: 105,242,796 (GRCm39) |
V432A |
probably benign |
Het |
Nav3 |
T |
G |
10: 109,602,851 (GRCm39) |
T1233P |
probably benign |
Het |
Nme9 |
G |
A |
9: 99,352,910 (GRCm39) |
A287T |
possibly damaging |
Het |
Nmrk1 |
A |
G |
19: 18,613,499 (GRCm39) |
I8V |
probably benign |
Het |
Noa1 |
T |
C |
5: 77,457,237 (GRCm39) |
N223D |
not run |
Het |
Nr4a3 |
T |
C |
4: 48,051,269 (GRCm39) |
Y8H |
probably damaging |
Het |
Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,637 (GRCm39) |
V9E |
possibly damaging |
Het |
Or2b4 |
A |
T |
17: 38,116,054 (GRCm39) |
Q6L |
probably benign |
Het |
Or4n4b |
T |
C |
14: 50,536,698 (GRCm39) |
I23V |
probably benign |
Het |
Or4p20 |
T |
C |
2: 88,254,270 (GRCm39) |
Y33C |
probably damaging |
Het |
Or52h2 |
T |
C |
7: 103,839,394 (GRCm39) |
S7G |
probably benign |
Het |
Or7g29 |
C |
T |
9: 19,286,854 (GRCm39) |
A108T |
probably benign |
Het |
Or8c9 |
T |
C |
9: 38,241,012 (GRCm39) |
V40A |
possibly damaging |
Het |
Otoa |
T |
A |
7: 120,733,267 (GRCm39) |
H711Q |
probably benign |
Het |
Otogl |
T |
A |
10: 107,612,981 (GRCm39) |
E2048D |
probably benign |
Het |
Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
Pcdha3 |
A |
G |
18: 37,081,219 (GRCm39) |
T654A |
probably benign |
Het |
Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
Ppt1 |
T |
A |
4: 122,730,126 (GRCm39) |
H26Q |
probably benign |
Het |
Prim1 |
T |
C |
10: 127,862,458 (GRCm39) |
|
probably null |
Het |
Prmt7 |
G |
T |
8: 106,963,918 (GRCm39) |
A271S |
probably benign |
Het |
Ptprd |
T |
C |
4: 76,047,153 (GRCm39) |
D124G |
probably benign |
Het |
Rad54l2 |
T |
C |
9: 106,590,777 (GRCm39) |
K450E |
probably benign |
Het |
Rasgrp2 |
G |
T |
19: 6,451,857 (GRCm39) |
V13L |
probably damaging |
Het |
Sapcd2 |
A |
G |
2: 25,265,978 (GRCm39) |
|
probably null |
Het |
Siglecf |
A |
G |
7: 43,001,194 (GRCm39) |
Y54C |
probably damaging |
Het |
Stk31 |
T |
A |
6: 49,400,340 (GRCm39) |
N388K |
probably benign |
Het |
Timm23 |
A |
C |
14: 31,920,935 (GRCm39) |
Y52* |
probably null |
Het |
Tm9sf1 |
A |
T |
14: 55,873,792 (GRCm39) |
F569I |
probably damaging |
Het |
Tmprss9 |
C |
A |
10: 80,728,843 (GRCm39) |
A592E |
probably damaging |
Het |
Trim30d |
A |
T |
7: 104,121,554 (GRCm39) |
V397E |
probably benign |
Het |
Tshz1 |
A |
T |
18: 84,034,200 (GRCm39) |
N69K |
probably damaging |
Het |
Upk2 |
A |
C |
9: 44,364,808 (GRCm39) |
S130R |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,926,977 (GRCm39) |
Y29C |
probably damaging |
Het |
Vmn2r96 |
T |
C |
17: 18,793,749 (GRCm39) |
I31T |
probably benign |
Het |
Zfp975 |
T |
C |
7: 42,311,848 (GRCm39) |
Q255R |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACTCAGGTTCCAGAGCCATTC -3'
(R):5'- GCAACAGATAATCGGTCCGAG -3'
Sequencing Primer
(F):5'- TCCACACTGGAGCTGTGG -3'
(R):5'- CAGATAATCGGTCCGAGTCAGG -3'
|
Posted On |
2019-11-12 |