Incidental Mutation 'R2924:Cass4'
| ID |
255653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cass4
|
| Ensembl Gene |
ENSMUSG00000074570 |
| Gene Name |
Cas scaffolding protein family member 4 |
| Synonyms |
F730031O20Rik |
| MMRRC Submission |
040509-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2924 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172268592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 225
(R225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099061]
[ENSMUST00000103073]
[ENSMUST00000109136]
[ENSMUST00000228775]
|
| AlphaFold |
Q08EC4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099061
AA Change: R225G
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: R225G
| 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: R225G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: R225G
| 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 |
possibly damaging
Transcript: ENSMUST00000109136
AA Change: R225G
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: R225G
| 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: R227G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9 |
A |
G |
3: 97,117,069 (GRCm39) |
S542P |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,463,373 (GRCm39) |
V440E |
probably damaging |
Het |
| Dmrtc2 |
G |
A |
7: 24,571,941 (GRCm39) |
C12Y |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,720,926 (GRCm39) |
I1693N |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,679,862 (GRCm39) |
T110A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,764,089 (GRCm39) |
R1354H |
probably benign |
Het |
| Gm5478 |
A |
T |
15: 101,552,229 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Il2rb |
T |
C |
15: 78,376,049 (GRCm39) |
M1V |
probably null |
Het |
| Ints6l |
A |
G |
X: 55,550,196 (GRCm39) |
E483G |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,981,446 (GRCm39) |
F224L |
probably benign |
Het |
| Mrgpra1 |
G |
A |
7: 46,984,618 (GRCm39) |
|
probably null |
Het |
| Mtbp |
G |
A |
15: 55,483,210 (GRCm39) |
R429Q |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,402,349 (GRCm39) |
T727K |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup214 |
A |
G |
2: 31,888,015 (GRCm39) |
K15E |
probably damaging |
Het |
| Or1e34 |
A |
G |
11: 73,778,337 (GRCm39) |
I287T |
probably damaging |
Het |
| Oxr1 |
T |
C |
15: 41,689,353 (GRCm39) |
Y526H |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,452 (GRCm39) |
F2563S |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,168,711 (GRCm39) |
T236A |
probably damaging |
Het |
| Rbbp5 |
G |
C |
1: 132,420,401 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
G |
4: 86,929,961 (GRCm39) |
S512P |
probably benign |
Het |
| Srd5a1 |
A |
G |
13: 69,734,834 (GRCm39) |
S191P |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,045,222 (GRCm39) |
V518E |
probably damaging |
Het |
| Tmem132e |
T |
C |
11: 82,335,149 (GRCm39) |
S652P |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,307,130 (GRCm39) |
V102D |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,097,596 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Upk3a |
A |
G |
15: 84,902,350 (GRCm39) |
Y59C |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,331,045 (GRCm39) |
Y38C |
probably damaging |
Het |
| Zfp119a |
C |
A |
17: 56,175,343 (GRCm39) |
D51Y |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGAGCCCTTGAGTGACAA -3'
(R):5'- AAGGGACCTTGTAGCTGCCA -3'
Sequencing Primer
(F):5'- TTGAGTGACAAGAGCAATGGG -3'
(R):5'- ACAGTGTTCCCCAGCTGTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation