Incidental Mutation 'R6432:Cass4'
ID |
518581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cass4
|
Ensembl Gene |
ENSMUSG00000074570 |
Gene Name |
Cas scaffolding protein family member 4 |
Synonyms |
F730031O20Rik |
MMRRC Submission |
044570-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6432 (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 172269639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 574
(F574L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099061]
[ENSMUST00000103073]
[ENSMUST00000109136]
[ENSMUST00000228775]
|
AlphaFold |
Q08EC4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099061
AA Change: F574L
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000096660 Gene: ENSMUSG00000074570 AA Change: F574L
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: F574L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099362 Gene: ENSMUSG00000074570 AA Change: F574L
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
AA Change: F574L
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104764 Gene: ENSMUSG00000074570 AA Change: F574L
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 |
noncoding transcript
Transcript: ENSMUST00000138288
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228775
AA Change: F576L
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora3 |
T |
A |
3: 105,814,991 (GRCm39) |
L101* |
probably null |
Het |
Atf7ip2 |
T |
C |
16: 10,022,534 (GRCm39) |
I71T |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,322,512 (GRCm39) |
C206R |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,845,411 (GRCm39) |
L606P |
probably damaging |
Het |
Cdcp3 |
G |
A |
7: 130,846,601 (GRCm39) |
|
probably null |
Het |
Col17a1 |
C |
A |
19: 47,668,847 (GRCm39) |
E126* |
probably null |
Het |
Cxadr |
A |
C |
16: 78,122,147 (GRCm39) |
D49A |
probably damaging |
Het |
Dact1 |
T |
C |
12: 71,365,327 (GRCm39) |
S703P |
probably damaging |
Het |
Dchs2 |
T |
A |
3: 83,178,425 (GRCm39) |
H1159Q |
possibly damaging |
Het |
Dnmt3a |
T |
A |
12: 3,952,399 (GRCm39) |
F697I |
probably damaging |
Het |
Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
Ear2 |
G |
T |
14: 44,340,660 (GRCm39) |
C106F |
probably damaging |
Het |
Gnl2 |
A |
T |
4: 124,946,353 (GRCm39) |
I525F |
possibly damaging |
Het |
Hsph1 |
C |
A |
5: 149,542,441 (GRCm39) |
K692N |
probably damaging |
Het |
Itga6 |
T |
A |
2: 71,664,116 (GRCm39) |
C489S |
possibly damaging |
Het |
Kdm2b |
C |
T |
5: 123,018,254 (GRCm39) |
C1007Y |
probably damaging |
Het |
Ly6m |
T |
C |
15: 74,751,813 (GRCm39) |
T74A |
probably benign |
Het |
Mast4 |
T |
C |
13: 103,042,185 (GRCm39) |
S22G |
possibly damaging |
Het |
Ms4a12 |
A |
G |
19: 11,192,376 (GRCm39) |
*264Q |
probably null |
Het |
Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,955,805 (GRCm39) |
N131K |
probably damaging |
Het |
Or10g6 |
T |
C |
9: 39,933,824 (GRCm39) |
I45T |
probably damaging |
Het |
Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
Rbm14 |
G |
T |
19: 4,853,191 (GRCm39) |
|
probably benign |
Het |
Rnf130 |
T |
A |
11: 49,986,617 (GRCm39) |
C320* |
probably null |
Het |
Rnf5 |
A |
G |
17: 34,821,101 (GRCm39) |
V77A |
possibly damaging |
Het |
Sh3pxd2a |
G |
T |
19: 47,258,366 (GRCm39) |
P418T |
probably damaging |
Het |
Shank3 |
G |
T |
15: 89,387,616 (GRCm39) |
V262F |
possibly damaging |
Het |
Six5 |
T |
A |
7: 18,830,696 (GRCm39) |
V441E |
probably damaging |
Het |
Tbc1d9b |
T |
A |
11: 50,037,155 (GRCm39) |
I268N |
probably benign |
Het |
Terb1 |
G |
A |
8: 105,212,078 (GRCm39) |
T301I |
possibly damaging |
Het |
Tnxb |
A |
C |
17: 34,936,891 (GRCm39) |
D2820A |
probably damaging |
Het |
Tram2 |
C |
T |
1: 21,074,457 (GRCm39) |
E242K |
possibly damaging |
Het |
Trps1 |
T |
C |
15: 50,694,793 (GRCm39) |
K210E |
probably damaging |
Het |
Tulp2 |
T |
A |
7: 45,168,012 (GRCm39) |
D141E |
probably benign |
Het |
Umodl1 |
C |
T |
17: 31,205,121 (GRCm39) |
T572I |
probably benign |
Het |
Upf2 |
C |
A |
2: 5,984,588 (GRCm39) |
A501E |
unknown |
Het |
Vmn2r102 |
A |
G |
17: 19,901,483 (GRCm39) |
T537A |
possibly damaging |
Het |
Wdr11 |
T |
A |
7: 129,208,242 (GRCm39) |
D332E |
possibly damaging |
Het |
Wdr38 |
A |
G |
2: 38,890,723 (GRCm39) |
N199S |
probably damaging |
Het |
Zfp672 |
T |
A |
11: 58,207,758 (GRCm39) |
I188F |
possibly damaging |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCGCTTGCAATCTCACAG -3'
(R):5'- TCCTTGCTAGTTCAAAGGAGTG -3'
Sequencing Primer
(F):5'- CAGCTACCTTCAGGCTAGAATTAGAG -3'
(R):5'- CCTTGCTAGTTCAAAGGAGTGTTCAG -3'
|
Posted On |
2018-05-24 |