Incidental Mutation 'R8270:Cass4'
| ID |
639428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cass4
|
| Ensembl Gene |
ENSMUSG00000074570 |
| Gene Name |
Cas scaffolding protein family member 4 |
| Synonyms |
F730031O20Rik |
| MMRRC Submission |
067694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8270 (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 A
at 172269589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 557
(L557Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099061]
[ENSMUST00000103073]
[ENSMUST00000109136]
|
| AlphaFold |
Q08EC4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099061
AA Change: L557Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: L557Q
| 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: L557Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: L557Q
| 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 damaging
Transcript: ENSMUST00000109136
AA Change: L557Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: L557Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,651,163 (GRCm39) |
T3044I |
probably damaging |
Het |
| Apbb1ip |
C |
T |
2: 22,765,004 (GRCm39) |
P562S |
unknown |
Het |
| Arhgap44 |
A |
G |
11: 64,912,860 (GRCm39) |
M477T |
possibly damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,882,354 (GRCm39) |
T1497A |
probably benign |
Het |
| Atp5pd |
T |
C |
11: 115,307,698 (GRCm39) |
D91G |
probably damaging |
Het |
| Atp6v0a4 |
A |
G |
6: 38,051,164 (GRCm39) |
F405L |
probably damaging |
Het |
| Bicc1 |
T |
A |
10: 70,767,938 (GRCm39) |
T893S |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,257,835 (GRCm39) |
C1122S |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,080,636 (GRCm39) |
E369G |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,839,672 (GRCm39) |
I48V |
probably benign |
Het |
| Crisp3 |
T |
C |
17: 40,546,813 (GRCm39) |
K35R |
probably benign |
Het |
| Csde1 |
G |
A |
3: 102,946,071 (GRCm39) |
A22T |
possibly damaging |
Het |
| Ctse |
T |
C |
1: 131,595,877 (GRCm39) |
Y190H |
probably damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,504,988 (GRCm39) |
D24V |
possibly damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,167,658 (GRCm39) |
Y981* |
probably null |
Het |
| Dclre1a |
G |
A |
19: 56,533,382 (GRCm39) |
T404I |
possibly damaging |
Het |
| Dmc1 |
T |
C |
15: 79,485,746 (GRCm39) |
D23G |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,059,687 (GRCm39) |
T4429M |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,997,033 (GRCm39) |
|
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fn3k |
A |
T |
11: 121,330,137 (GRCm39) |
M107L |
probably benign |
Het |
| Fxyd5 |
A |
G |
7: 30,740,854 (GRCm39) |
L10P |
probably damaging |
Het |
| Gm21958 |
G |
A |
3: 54,621,633 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
C |
T |
10: 18,659,760 (GRCm39) |
D321N |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,734,050 (GRCm39) |
*310W |
probably null |
Het |
| Hapln2 |
G |
A |
3: 87,930,851 (GRCm39) |
T180I |
possibly damaging |
Het |
| Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,379,875 (GRCm39) |
V1166A |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,401,358 (GRCm39) |
N439S |
|
Het |
| Klhl3 |
A |
T |
13: 58,260,968 (GRCm39) |
M15K |
|
Het |
| Klk1b26 |
A |
T |
7: 43,665,544 (GRCm39) |
T151S |
probably benign |
Het |
| Krtap5-1 |
C |
A |
7: 141,850,199 (GRCm39) |
C176F |
unknown |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,693 (GRCm39) |
C177S |
unknown |
Het |
| Lrrc37 |
T |
C |
11: 103,434,141 (GRCm39) |
I3009M |
unknown |
Het |
| Map1a |
T |
C |
2: 121,129,501 (GRCm39) |
F180L |
probably damaging |
Het |
| Mfap5 |
T |
C |
6: 122,498,889 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
T |
A |
2: 80,355,008 (GRCm39) |
H638L |
possibly damaging |
Het |
| Optc |
C |
T |
1: 133,832,810 (GRCm39) |
V97M |
probably benign |
Het |
| Or5p78 |
T |
A |
7: 108,212,150 (GRCm39) |
I212N |
probably benign |
Het |
| Or8b46 |
T |
G |
9: 38,450,644 (GRCm39) |
M151R |
noncoding transcript |
Het |
| Piezo1 |
A |
G |
8: 123,228,298 (GRCm39) |
Y330H |
|
Het |
| Ppp1r12b |
G |
T |
1: 134,803,886 (GRCm39) |
N424K |
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,913,058 (GRCm39) |
F580L |
probably damaging |
Het |
| Prr27 |
A |
C |
5: 87,994,171 (GRCm39) |
K348N |
possibly damaging |
Het |
| Prr30 |
A |
G |
14: 101,435,822 (GRCm39) |
Y247H |
possibly damaging |
Het |
| Rbks |
A |
T |
5: 31,807,810 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,099,535 (GRCm39) |
V336A |
possibly damaging |
Het |
| Serac1 |
A |
T |
17: 6,101,033 (GRCm39) |
L457H |
probably damaging |
Het |
| Serpina1f |
A |
G |
12: 103,659,757 (GRCm39) |
I175T |
probably damaging |
Het |
| Smr2l |
T |
C |
5: 88,430,383 (GRCm39) |
V93A |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,426,897 (GRCm39) |
H242L |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,606,958 (GRCm39) |
M332K |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,769,294 (GRCm39) |
N361K |
possibly damaging |
Het |
| Trim43b |
G |
T |
9: 88,967,458 (GRCm39) |
H393N |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,176,838 (GRCm39) |
L1334S |
probably benign |
Het |
| Usp35 |
T |
C |
7: 96,961,551 (GRCm39) |
E625G |
probably benign |
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 |
|
|
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'- CCGCTTGCAATCTCACAGAC -3'
(R):5'- TTTCCTTGCTAGTTCAAAGGAGTG -3'
Sequencing Primer
(F):5'- CAGCTACCTTCAGGCTAGAATTAGAG -3'
(R):5'- CCTTGCTAGTTCAAAGGAGTGTTCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation