Incidental Mutation 'R8378:Cass4'
| ID |
646796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cass4
|
| Ensembl Gene |
ENSMUSG00000074570 |
| Gene Name |
Cas scaffolding protein family member 4 |
| Synonyms |
F730031O20Rik |
| MMRRC Submission |
067746-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8378 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172269714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 599
(C599R)
|
| 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: C599R
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: C599R
| 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: C599R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: C599R
| 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: C599R
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: C599R
| 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: C601R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,886,967 (GRCm39) |
I491T |
probably damaging |
Het |
| Aadacl4fm4 |
C |
G |
4: 144,397,169 (GRCm39) |
V188L |
probably benign |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,601,445 (GRCm39) |
E82G |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,003,248 (GRCm39) |
N93D |
probably damaging |
Het |
| Car9 |
C |
T |
4: 43,509,021 (GRCm39) |
R224C |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,782,490 (GRCm39) |
N1261D |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,989,709 (GRCm39) |
D1726G |
probably damaging |
Het |
| Ceacam2 |
G |
A |
7: 25,217,597 (GRCm39) |
A306V |
probably damaging |
Het |
| Crebrf |
G |
T |
17: 26,981,263 (GRCm39) |
L546F |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,069,941 (GRCm39) |
F370S |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,922,699 (GRCm39) |
T487A |
probably benign |
Het |
| Diaph1 |
G |
A |
18: 38,025,006 (GRCm39) |
A485V |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,708,195 (GRCm39) |
V1479A |
probably damaging |
Het |
| Efemp1 |
C |
T |
11: 28,871,765 (GRCm39) |
R427W |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,741,075 (GRCm39) |
W28L |
|
Het |
| Golga4 |
A |
G |
9: 118,387,390 (GRCm39) |
D1504G |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,757 (GRCm39) |
S238G |
probably benign |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,378 (GRCm39) |
V83D |
possibly damaging |
Het |
| Ippk |
T |
A |
13: 49,589,055 (GRCm39) |
C183* |
probably null |
Het |
| Itgb3 |
A |
G |
11: 104,533,142 (GRCm39) |
T419A |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,797,283 (GRCm39) |
H129R |
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,807,299 (GRCm39) |
V12E |
probably damaging |
Het |
| Kif2b |
C |
A |
11: 91,467,201 (GRCm39) |
G361C |
possibly damaging |
Het |
| Klhl30 |
A |
T |
1: 91,285,494 (GRCm39) |
K339* |
probably null |
Het |
| Lrfn1 |
A |
G |
7: 28,159,157 (GRCm39) |
I359V |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ndufaf2 |
C |
A |
13: 108,189,387 (GRCm39) |
L120F |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,545 (GRCm39) |
V961A |
possibly damaging |
Het |
| Or12e10 |
T |
A |
2: 87,640,394 (GRCm39) |
Y77N |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,678 (GRCm39) |
V135A |
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,487,649 (GRCm39) |
P1785S |
probably damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,504,234 (GRCm39) |
Y170H |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Rfx8 |
T |
A |
1: 39,709,581 (GRCm39) |
D482V |
probably damaging |
Het |
| Rilpl1 |
T |
C |
5: 124,668,964 (GRCm39) |
Y28C |
probably damaging |
Het |
| Sgce |
G |
C |
6: 4,689,760 (GRCm39) |
L394V |
probably damaging |
Het |
| Sgce |
T |
A |
6: 4,691,525 (GRCm39) |
Y350F |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,414,597 (GRCm39) |
V39A |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,976,405 (GRCm39) |
I1148F |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,029 (GRCm39) |
R64* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,108 (GRCm39) |
V725E |
probably benign |
Het |
| Yy1 |
A |
T |
12: 108,759,562 (GRCm39) |
H75L |
unknown |
Het |
| Zwilch |
A |
T |
9: 64,060,240 (GRCm39) |
V366D |
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 |
|
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 |
|
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'- AGACACTGCTGGATGCCAAG -3'
(R):5'- TTCAGGTAACAGATGAAGTCCCC -3'
Sequencing Primer
(F):5'- AAGCTTGGACCGCTGCAATTG -3'
(R):5'- ACAGATGAAGTCCCCTGTGTACTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation