Incidental Mutation 'R9522:Cass4'
ID |
718933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cass4
|
Ensembl Gene |
ENSMUSG00000074570 |
Gene Name |
Cas scaffolding protein family member 4 |
Synonyms |
F730031O20Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9522 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 172269348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 477
(I477V)
|
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: I477V
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000096660 Gene: ENSMUSG00000074570 AA Change: I477V
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 |
possibly damaging
Transcript: ENSMUST00000103073
AA Change: I477V
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099362 Gene: ENSMUSG00000074570 AA Change: I477V
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: I477V
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104764 Gene: ENSMUSG00000074570 AA Change: I477V
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 |
possibly damaging
Transcript: ENSMUST00000228775
AA Change: I479V
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
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 |
Abca14 |
A |
T |
7: 119,847,368 (GRCm39) |
Y744F |
probably null |
Het |
Adam17 |
C |
A |
12: 21,395,693 (GRCm39) |
V277F |
probably damaging |
Het |
Adcy8 |
C |
T |
15: 64,792,560 (GRCm39) |
C132Y |
probably damaging |
Het |
Adgrf3 |
G |
A |
5: 30,404,482 (GRCm39) |
P318L |
possibly damaging |
Het |
Ahcyl1 |
A |
T |
3: 107,579,398 (GRCm39) |
I212N |
probably damaging |
Het |
Allc |
A |
T |
12: 28,620,653 (GRCm39) |
F33I |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,027,450 (GRCm39) |
T7A |
probably benign |
Het |
Bbs4 |
A |
G |
9: 59,260,691 (GRCm39) |
|
probably null |
Het |
Btbd1 |
G |
T |
7: 81,479,081 (GRCm39) |
P20H |
unknown |
Het |
Cep83 |
A |
G |
10: 94,586,184 (GRCm39) |
E362G |
probably damaging |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Cimip2c |
A |
T |
5: 30,623,467 (GRCm39) |
S5C |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,412,347 (GRCm39) |
D896G |
probably benign |
Het |
Crocc2 |
T |
C |
1: 93,117,429 (GRCm39) |
V305A |
probably benign |
Het |
Cse1l |
G |
A |
2: 166,776,673 (GRCm39) |
V495I |
probably benign |
Het |
Ctsj |
A |
T |
13: 61,152,257 (GRCm39) |
Y36* |
probably null |
Het |
Ctss |
T |
G |
3: 95,454,109 (GRCm39) |
D220E |
probably benign |
Het |
Ctu1 |
T |
C |
7: 43,324,900 (GRCm39) |
L113P |
probably benign |
Het |
Cyp2d40 |
G |
A |
15: 82,648,274 (GRCm39) |
A13V |
possibly damaging |
Het |
Dhrs4 |
A |
T |
14: 55,716,219 (GRCm39) |
|
probably benign |
Het |
Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
Dpysl5 |
C |
A |
5: 30,935,399 (GRCm39) |
Y167* |
probably null |
Het |
E4f1 |
C |
T |
17: 24,666,096 (GRCm39) |
G234D |
probably damaging |
Het |
Eif3g |
G |
T |
9: 20,809,451 (GRCm39) |
T27N |
probably benign |
Het |
Eif3g |
T |
A |
9: 20,809,452 (GRCm39) |
T27S |
probably benign |
Het |
Fcrl2 |
A |
G |
3: 87,164,101 (GRCm39) |
F343L |
possibly damaging |
Het |
Fdft1 |
T |
C |
14: 63,396,597 (GRCm39) |
|
probably null |
Het |
Hsd3b9 |
T |
C |
3: 98,353,783 (GRCm39) |
S239G |
probably benign |
Het |
Igf2r |
G |
T |
17: 12,917,215 (GRCm39) |
Q1562K |
probably benign |
Het |
Ilf3 |
G |
A |
9: 21,305,533 (GRCm39) |
V232I |
probably benign |
Het |
Irx5 |
C |
T |
8: 93,087,259 (GRCm39) |
T397M |
possibly damaging |
Het |
Kif16b |
A |
T |
2: 142,691,827 (GRCm39) |
V219D |
probably damaging |
Het |
Klkb1 |
T |
C |
8: 45,730,052 (GRCm39) |
I276M |
probably benign |
Het |
Large2 |
A |
G |
2: 92,200,266 (GRCm39) |
L115P |
probably damaging |
Het |
Lrrc3b |
T |
C |
14: 15,358,423 (GRCm38) |
D61G |
probably benign |
Het |
Map7 |
A |
G |
10: 20,105,642 (GRCm39) |
Y31C |
possibly damaging |
Het |
Moxd2 |
T |
A |
6: 40,857,375 (GRCm39) |
I462F |
probably benign |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or5b98 |
T |
A |
19: 12,931,377 (GRCm39) |
C141* |
probably null |
Het |
Or9m2 |
G |
A |
2: 87,821,175 (GRCm39) |
C240Y |
probably damaging |
Het |
Phf20l1 |
T |
C |
15: 66,504,669 (GRCm39) |
V770A |
possibly damaging |
Het |
Ppfia4 |
G |
A |
1: 134,240,886 (GRCm39) |
A819V |
probably damaging |
Het |
Qrfpr |
A |
G |
3: 36,236,676 (GRCm39) |
W242R |
probably damaging |
Het |
Rgs3 |
A |
G |
4: 62,523,729 (GRCm39) |
I53M |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,971,311 (GRCm39) |
F263S |
probably damaging |
Het |
Rpl22l1 |
T |
C |
3: 28,860,743 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
A |
2: 112,560,759 (GRCm39) |
I3001F |
probably benign |
Het |
Safb2 |
A |
G |
17: 56,873,900 (GRCm39) |
I675T |
probably damaging |
Het |
Scart2 |
T |
A |
7: 139,853,987 (GRCm39) |
I330N |
possibly damaging |
Het |
Sec16b |
C |
T |
1: 157,392,335 (GRCm39) |
S901L |
probably damaging |
Het |
Setd5 |
T |
G |
6: 113,091,995 (GRCm39) |
I272S |
probably damaging |
Het |
Slc40a1 |
A |
T |
1: 45,948,672 (GRCm39) |
M536K |
probably damaging |
Het |
Slfn3 |
T |
C |
11: 83,103,825 (GRCm39) |
V232A |
probably benign |
Het |
Spata31d1b |
T |
C |
13: 59,864,780 (GRCm39) |
S643P |
probably benign |
Het |
Tbc1d23 |
T |
C |
16: 57,019,107 (GRCm39) |
D251G |
probably benign |
Het |
Tbccd1 |
T |
C |
16: 22,641,249 (GRCm39) |
E376G |
possibly damaging |
Het |
Tmem184a |
G |
T |
5: 139,791,485 (GRCm39) |
P368T |
probably benign |
Het |
Top1mt |
T |
C |
15: 75,539,309 (GRCm39) |
D362G |
probably damaging |
Het |
Top6bl |
T |
C |
19: 4,677,274 (GRCm39) |
H612R |
probably benign |
Het |
Ugt3a1 |
C |
A |
15: 9,370,209 (GRCm39) |
P451H |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,677,221 (GRCm39) |
C2050Y |
possibly damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vmn1r179 |
T |
C |
7: 23,628,202 (GRCm39) |
V131A |
probably damaging |
Het |
Wdr89 |
A |
G |
12: 75,679,924 (GRCm39) |
F110S |
probably damaging |
Het |
Znrf3 |
T |
C |
11: 5,232,379 (GRCm39) |
Y282C |
probably damaging |
Het |
Zscan18 |
T |
C |
7: 12,503,297 (GRCm39) |
D754G |
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 |
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 |
|
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'- TTATCTGTTGCCAGCTCAGAC -3'
(R):5'- AAGCTTCCCTTGGCATCCAG -3'
Sequencing Primer
(F):5'- CTCAGACAGCAGGGCTAGTGTG -3'
(R):5'- CATCCAGCAGTGTCTGGTAG -3'
|
Posted On |
2022-07-18 |