Incidental Mutation 'R1352:Cass4'
| ID |
156693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cass4
|
| Ensembl Gene |
ENSMUSG00000074570 |
| Gene Name |
Cas scaffolding protein family member 4 |
| Synonyms |
F730031O20Rik |
| MMRRC Submission |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172258415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 138
(S138P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099061]
[ENSMUST00000103073]
[ENSMUST00000109136]
[ENSMUST00000228775]
|
| AlphaFold |
Q08EC4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099061
AA Change: S138P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: S138P
| 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: S138P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: S138P
| 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: S138P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: S138P
| 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 benign
Transcript: ENSMUST00000228775
AA Change: S138P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
| Acbd3 |
T |
A |
1: 180,566,095 (GRCm39) |
Y263N |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,362,830 (GRCm39) |
V142A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,298 (GRCm39) |
Y79C |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
| Gm5422 |
A |
C |
10: 31,126,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
T |
A |
1: 75,417,178 (GRCm39) |
D204E |
probably benign |
Het |
| Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
| Kng1 |
G |
T |
16: 22,886,444 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,080,764 (GRCm39) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,207,185 (GRCm39) |
S856P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
probably 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 |
|
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 |
|
|
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'- TTTCTCCAGAGGGGACATCCTGAC -3'
(R):5'- TGCACACACCTTCAACTGATGGC -3'
Sequencing Primer
(F):5'- CATCGTGGAACAAAATGTGCC -3'
(R):5'- CCTTCAACTGATGGCACAGG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation