Incidental Mutation 'R9683:Cass4'
ID |
728669 |
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 # |
R9683 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 172268656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 246
(P246L)
|
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: P246L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096660 Gene: ENSMUSG00000074570 AA Change: P246L
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: P246L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099362 Gene: ENSMUSG00000074570 AA Change: P246L
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: P246L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104764 Gene: ENSMUSG00000074570 AA Change: P246L
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: P248L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
T |
3: 124,200,095 (GRCm39) |
G499D |
probably benign |
Het |
Acr |
T |
A |
15: 89,457,440 (GRCm39) |
Y229* |
probably null |
Het |
Adam6b |
G |
T |
12: 113,454,176 (GRCm39) |
C331F |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,984,719 (GRCm39) |
V2001A |
possibly damaging |
Het |
Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
Anln |
A |
T |
9: 22,283,536 (GRCm39) |
C432* |
probably null |
Het |
Aox4 |
T |
C |
1: 58,278,462 (GRCm39) |
|
probably null |
Het |
Astn1 |
A |
G |
1: 158,491,619 (GRCm39) |
I1007V |
possibly damaging |
Het |
Bicral |
T |
C |
17: 47,122,944 (GRCm39) |
D649G |
possibly damaging |
Het |
C1qbp |
G |
A |
11: 70,873,749 (GRCm39) |
R10C |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,704,522 (GRCm39) |
V335E |
probably damaging |
Het |
Cfap52 |
T |
A |
11: 67,822,639 (GRCm39) |
T411S |
probably benign |
Het |
Cnot6 |
A |
T |
11: 49,580,164 (GRCm39) |
L43I |
possibly damaging |
Het |
Col9a3 |
G |
A |
2: 180,248,322 (GRCm39) |
|
probably null |
Het |
Dnah14 |
A |
G |
1: 181,426,509 (GRCm39) |
R210G |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,943,332 (GRCm39) |
S742G |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,186,099 (GRCm39) |
V1750M |
probably benign |
Het |
Glrx2 |
A |
G |
1: 143,622,292 (GRCm39) |
D96G |
probably damaging |
Het |
Gm8369 |
T |
C |
19: 11,489,097 (GRCm39) |
L128P |
probably damaging |
Het |
Gpr155 |
A |
G |
2: 73,192,780 (GRCm39) |
I585T |
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,449,140 (GRCm39) |
S1907P |
probably damaging |
Het |
Hscb |
T |
C |
5: 110,983,881 (GRCm39) |
T129A |
possibly damaging |
Het |
Itgb5 |
T |
A |
16: 33,740,335 (GRCm39) |
Y482N |
probably damaging |
Het |
Kmt5b |
T |
A |
19: 3,865,587 (GRCm39) |
*884R |
probably null |
Het |
L3mbtl1 |
A |
T |
2: 162,812,228 (GRCm39) |
T758S |
possibly damaging |
Het |
Mindy1 |
A |
T |
3: 95,202,176 (GRCm39) |
H351L |
probably benign |
Het |
Mmel1 |
A |
T |
4: 154,977,285 (GRCm39) |
I552F |
probably damaging |
Het |
Mos |
T |
C |
4: 3,871,186 (GRCm39) |
D210G |
probably benign |
Het |
Npl |
A |
C |
1: 153,421,030 (GRCm39) |
I16S |
possibly damaging |
Het |
Nutm2 |
C |
A |
13: 50,629,017 (GRCm39) |
P694T |
possibly damaging |
Het |
Or1e1c |
G |
A |
11: 73,265,811 (GRCm39) |
V82I |
probably damaging |
Het |
Or52ae7 |
A |
G |
7: 103,119,157 (GRCm39) |
|
probably benign |
Het |
Plekhg4 |
T |
C |
8: 106,102,923 (GRCm39) |
F261L |
probably benign |
Het |
Ppfia3 |
T |
A |
7: 45,005,999 (GRCm39) |
N331I |
probably benign |
Het |
Ppp1r12a |
T |
A |
10: 108,096,747 (GRCm39) |
S712R |
possibly damaging |
Het |
Psg20 |
T |
A |
7: 18,416,508 (GRCm39) |
K203* |
probably null |
Het |
Recql |
C |
T |
6: 142,305,646 (GRCm39) |
R234Q |
|
Het |
Rerg |
A |
G |
6: 137,033,252 (GRCm39) |
F160S |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,269,126 (GRCm39) |
K1571E |
probably damaging |
Het |
Rsrc1 |
T |
A |
3: 67,257,328 (GRCm39) |
S247T |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,450,881 (GRCm39) |
I4309N |
possibly damaging |
Het |
Setd7 |
A |
T |
3: 51,450,111 (GRCm39) |
I105N |
possibly damaging |
Het |
Sgk1 |
AAGA |
AAGAGA |
10: 21,868,290 (GRCm39) |
|
probably null |
Het |
Siglec1 |
T |
A |
2: 130,921,236 (GRCm39) |
H645L |
probably damaging |
Het |
Slain1 |
A |
T |
14: 103,925,621 (GRCm39) |
D323V |
probably damaging |
Het |
Slc25a10 |
A |
G |
11: 120,386,312 (GRCm39) |
N139D |
probably damaging |
Het |
Slc9a9 |
T |
G |
9: 94,552,235 (GRCm39) |
F41V |
probably damaging |
Het |
Spag9 |
A |
C |
11: 93,988,568 (GRCm39) |
E879D |
probably damaging |
Het |
Tdrd7 |
T |
A |
4: 46,025,946 (GRCm39) |
L922Q |
probably damaging |
Het |
Tiprl |
A |
G |
1: 165,050,147 (GRCm39) |
F156S |
probably damaging |
Het |
Tmem185b |
G |
C |
1: 119,454,748 (GRCm39) |
V170L |
probably damaging |
Het |
Top2a |
G |
A |
11: 98,887,683 (GRCm39) |
T1275I |
probably benign |
Het |
Tpp1 |
A |
G |
7: 105,398,104 (GRCm39) |
L353P |
probably damaging |
Het |
Twnk |
T |
A |
19: 44,998,622 (GRCm39) |
H513Q |
probably damaging |
Het |
Ubr5 |
C |
T |
15: 37,978,271 (GRCm39) |
V2467I |
|
Het |
Vmn2r16 |
T |
A |
5: 109,511,677 (GRCm39) |
I628N |
probably damaging |
Het |
Zan |
T |
C |
5: 137,462,776 (GRCm39) |
E801G |
unknown |
Het |
Zfp810 |
T |
C |
9: 22,189,799 (GRCm39) |
R370G |
possibly damaging |
Het |
Zfp955a |
A |
G |
17: 33,461,587 (GRCm39) |
S182P |
probably benign |
Het |
Znrf3 |
T |
C |
11: 5,394,465 (GRCm39) |
T72A |
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 |
|
R9522:Cass4
|
UTSW |
2 |
172,269,348 (GRCm39) |
missense |
possibly damaging |
0.46 |
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'- ATGTCAAGGGTCTGTCGGAC -3'
(R):5'- AACCTGGAAGGGACCTTGTAGC -3'
Sequencing Primer
(F):5'- GGACTCTCGTTTGGTTGTTACTAACC -3'
(R):5'- AAGGGACCTTGTAGCTGCCAC -3'
|
Posted On |
2022-10-06 |