Incidental Mutation 'R5873:Cass4'
ID |
455295 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cass4
|
Ensembl Gene |
ENSMUSG00000074570 |
Gene Name |
Cas scaffolding protein family member 4 |
Synonyms |
F730031O20Rik |
MMRRC Submission |
044080-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5873 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 172268688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 259
(V259L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099061]
[ENSMUST00000103073]
[ENSMUST00000109136]
[ENSMUST00000228775]
|
AlphaFold |
Q08EC4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099061
AA Change: V257L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000096660 Gene: ENSMUSG00000074570 AA Change: V257L
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
AA Change: V257L
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099362 Gene: ENSMUSG00000074570 AA Change: V257L
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: V257L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000104764 Gene: ENSMUSG00000074570 AA Change: V257L
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 |
probably benign
Transcript: ENSMUST00000228775
AA Change: V259L
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,630,167 (GRCm39) |
|
probably null |
Het |
4930505A04Rik |
T |
A |
11: 30,376,220 (GRCm39) |
K216* |
probably null |
Het |
5330417H12Rik |
T |
C |
7: 107,223,975 (GRCm39) |
|
probably benign |
Het |
Abcc4 |
G |
T |
14: 118,763,702 (GRCm39) |
D1044E |
probably benign |
Het |
Adgre4 |
A |
G |
17: 56,159,282 (GRCm39) |
T656A |
probably benign |
Het |
Ankk1 |
T |
C |
9: 49,327,196 (GRCm39) |
N661S |
probably benign |
Het |
Asah2 |
A |
G |
19: 31,981,082 (GRCm39) |
|
probably null |
Het |
Asxl3 |
A |
G |
18: 22,649,142 (GRCm39) |
D377G |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,381 (GRCm39) |
S279P |
probably benign |
Het |
C7 |
A |
G |
15: 5,034,717 (GRCm39) |
V610A |
probably damaging |
Het |
Cacna2d3 |
C |
A |
14: 29,442,891 (GRCm39) |
A48S |
probably benign |
Het |
Card11 |
T |
A |
5: 140,894,393 (GRCm39) |
I79F |
probably damaging |
Het |
Casc3 |
A |
G |
11: 98,712,270 (GRCm39) |
Y103C |
unknown |
Het |
Col14a1 |
A |
G |
15: 55,309,182 (GRCm39) |
|
probably benign |
Het |
Cox10 |
A |
G |
11: 63,962,512 (GRCm39) |
S110P |
probably benign |
Het |
Cpt1b |
T |
C |
15: 89,304,931 (GRCm39) |
Y439C |
probably damaging |
Het |
Crybb2 |
C |
T |
5: 113,213,759 (GRCm39) |
|
probably null |
Het |
Cyp2b23 |
C |
T |
7: 26,374,431 (GRCm39) |
R271H |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,947,723 (GRCm39) |
I3039V |
probably benign |
Het |
Dnpep |
T |
C |
1: 75,291,787 (GRCm39) |
D242G |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,551,855 (GRCm39) |
N660I |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,061,640 (GRCm39) |
D471G |
probably benign |
Het |
Evpl |
A |
T |
11: 116,125,258 (GRCm39) |
L97H |
probably damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,389,850 (GRCm39) |
I142F |
probably damaging |
Het |
Fry |
C |
A |
5: 150,302,350 (GRCm39) |
P519Q |
probably damaging |
Het |
Gal3st2 |
T |
A |
1: 93,801,472 (GRCm39) |
F92I |
probably benign |
Het |
Galm |
A |
G |
17: 80,445,532 (GRCm39) |
E94G |
probably benign |
Het |
Gfy |
T |
G |
7: 44,827,004 (GRCm39) |
H364P |
probably damaging |
Het |
Helz2 |
A |
G |
2: 180,875,821 (GRCm39) |
S1558P |
possibly damaging |
Het |
Hmmr |
T |
A |
11: 40,598,527 (GRCm39) |
Q600L |
probably damaging |
Het |
Hnrnph3 |
A |
G |
10: 62,855,170 (GRCm39) |
|
probably null |
Het |
Igkv4-90 |
T |
A |
6: 68,784,453 (GRCm39) |
N21I |
probably benign |
Het |
Kpna1 |
A |
G |
16: 35,834,598 (GRCm39) |
|
probably benign |
Het |
Krt28 |
A |
C |
11: 99,257,716 (GRCm39) |
L375R |
probably damaging |
Het |
Lrrn1 |
T |
C |
6: 107,545,936 (GRCm39) |
V578A |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,305,052 (GRCm39) |
|
probably null |
Het |
Matk |
T |
A |
10: 81,095,963 (GRCm39) |
V166E |
probably benign |
Het |
Muc4 |
C |
A |
16: 32,570,113 (GRCm39) |
T391K |
possibly damaging |
Het |
Mybl1 |
T |
A |
1: 9,755,890 (GRCm39) |
T220S |
possibly damaging |
Het |
Nrp1 |
T |
C |
8: 129,194,858 (GRCm39) |
V438A |
probably damaging |
Het |
Or2y6 |
A |
T |
11: 52,104,180 (GRCm39) |
L212Q |
probably damaging |
Het |
Or6p1 |
T |
A |
1: 174,258,348 (GRCm39) |
M118K |
possibly damaging |
Het |
Pdia4 |
A |
T |
6: 47,785,110 (GRCm39) |
W86R |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,016,388 (GRCm39) |
D911V |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,788,804 (GRCm39) |
Q854R |
probably benign |
Het |
Ppl |
A |
G |
16: 4,923,913 (GRCm39) |
|
probably null |
Het |
Ppp1r26 |
A |
G |
2: 28,341,617 (GRCm39) |
T416A |
probably benign |
Het |
Prdm15 |
T |
C |
16: 97,609,889 (GRCm39) |
D585G |
probably damaging |
Het |
Rbak |
A |
G |
5: 143,159,466 (GRCm39) |
V529A |
probably benign |
Het |
Rc3h1 |
C |
T |
1: 160,787,071 (GRCm39) |
T822I |
probably damaging |
Het |
Slc25a18 |
A |
T |
6: 120,763,242 (GRCm39) |
|
probably null |
Het |
Taf2 |
T |
C |
15: 54,901,818 (GRCm39) |
N792S |
probably benign |
Het |
Tat |
T |
C |
8: 110,718,581 (GRCm39) |
|
probably null |
Het |
Tbx21 |
A |
T |
11: 97,005,474 (GRCm39) |
|
probably null |
Het |
Txndc11 |
A |
G |
16: 10,893,069 (GRCm39) |
L887P |
probably damaging |
Het |
Usp10 |
A |
G |
8: 120,673,831 (GRCm39) |
T399A |
possibly damaging |
Het |
Vmn2r26 |
A |
T |
6: 124,038,633 (GRCm39) |
H736L |
probably benign |
Het |
Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
Zkscan5 |
A |
G |
5: 145,157,204 (GRCm39) |
R496G |
possibly damaging |
Het |
Zranb2 |
C |
T |
3: 157,242,020 (GRCm39) |
R36* |
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCGGGGACAACTTTGTGTG -3'
(R):5'- CCACTCTGGGAATAAGAAACCTG -3'
Sequencing Primer
(F):5'- GGACAACTTTGTGTGTGTGTG -3'
(R):5'- ACCTGGAAGGGACCTTGTAGC -3'
|
Posted On |
2017-02-10 |