Incidental Mutation 'R1612:Cass4'
| ID |
176845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cass4
|
| Ensembl Gene |
ENSMUSG00000074570 |
| Gene Name |
Cas scaffolding protein family member 4 |
| Synonyms |
F730031O20Rik |
| MMRRC Submission |
039649-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1612 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
172235714-172275677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 172268998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 362
(Q362L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099061]
[ENSMUST00000103073]
[ENSMUST00000109136]
[ENSMUST00000228775]
|
| AlphaFold |
Q08EC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099061
AA Change: Q360L
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: Q360L
| 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: Q360L
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: Q360L
| 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: Q360L
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: Q360L
| 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 |
noncoding transcript
Transcript: ENSMUST00000138288
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228775
AA Change: Q362L
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
97% (69/71) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
A |
G |
3: 79,538,451 (GRCm39) |
T66A |
probably benign |
Het |
| Actb |
A |
G |
5: 142,891,350 (GRCm39) |
F31S |
probably damaging |
Het |
| Adamts7 |
T |
C |
9: 90,070,750 (GRCm39) |
S624P |
possibly damaging |
Het |
| Adh7 |
T |
C |
3: 137,934,642 (GRCm39) |
I355T |
possibly damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,241,538 (GRCm39) |
E106G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,245 (GRCm39) |
V1483A |
possibly damaging |
Het |
| Cabp7 |
T |
C |
11: 4,689,198 (GRCm39) |
D149G |
probably damaging |
Het |
| Cd14 |
G |
A |
18: 36,858,718 (GRCm39) |
Q246* |
probably null |
Het |
| Cdr2l |
A |
C |
11: 115,284,232 (GRCm39) |
E189D |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,654,748 (GRCm39) |
V991A |
probably damaging |
Het |
| Coq7 |
A |
G |
7: 118,109,134 (GRCm39) |
W305R |
unknown |
Het |
| Cracr2a |
G |
T |
6: 127,580,892 (GRCm39) |
G23* |
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,366 (GRCm39) |
L40P |
possibly damaging |
Het |
| Eps8 |
G |
A |
6: 137,477,616 (GRCm39) |
P531S |
probably benign |
Het |
| Faap100 |
C |
A |
11: 120,267,914 (GRCm39) |
L286F |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,194,824 (GRCm39) |
C1446S |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,795,454 (GRCm39) |
V127A |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,490 (GRCm39) |
D1261G |
probably damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,381,561 (GRCm39) |
Y775C |
probably damaging |
Het |
| Gbp11 |
G |
T |
5: 105,474,462 (GRCm39) |
Q405K |
possibly damaging |
Het |
| Gdi2 |
T |
A |
13: 3,610,051 (GRCm39) |
V260E |
probably benign |
Het |
| Glp2r |
C |
T |
11: 67,633,033 (GRCm39) |
V98M |
possibly damaging |
Het |
| Gm13741 |
T |
C |
2: 87,486,431 (GRCm39) |
Y278C |
probably damaging |
Het |
| Gm7732 |
G |
A |
17: 21,350,177 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
A |
10: 88,264,344 (GRCm39) |
|
probably null |
Het |
| Hbs1l |
T |
G |
10: 21,234,734 (GRCm39) |
F596V |
probably damaging |
Het |
| Krt78 |
A |
T |
15: 101,860,279 (GRCm39) |
|
probably null |
Het |
| Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
| Lcmt2 |
T |
C |
2: 120,969,601 (GRCm39) |
Y274C |
probably damaging |
Het |
| Limd1 |
A |
G |
9: 123,347,219 (GRCm39) |
Y620C |
probably damaging |
Het |
| Lvrn |
G |
T |
18: 47,027,770 (GRCm39) |
A862S |
probably damaging |
Het |
| Map4k2 |
A |
G |
19: 6,393,371 (GRCm39) |
E206G |
probably damaging |
Het |
| Med16 |
A |
G |
10: 79,735,079 (GRCm39) |
S461P |
probably damaging |
Het |
| Mrfap1 |
C |
A |
5: 36,953,706 (GRCm39) |
A78S |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,220,959 (GRCm39) |
N1715K |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,252,265 (GRCm39) |
|
probably benign |
Het |
| Ngly1 |
G |
T |
14: 16,290,867 (GRCm38) |
G450* |
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,501 (GRCm39) |
M98L |
probably benign |
Het |
| Or5k3 |
T |
C |
16: 58,969,987 (GRCm39) |
M258T |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,118,791 (GRCm39) |
Y643* |
probably null |
Het |
| Pdilt |
T |
G |
7: 119,086,198 (GRCm39) |
N506H |
possibly damaging |
Het |
| Pear1 |
C |
T |
3: 87,659,160 (GRCm39) |
|
probably null |
Het |
| Pfkp |
A |
T |
13: 6,638,625 (GRCm39) |
M582K |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,403,820 (GRCm39) |
F251I |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,989,004 (GRCm39) |
Y252H |
probably damaging |
Het |
| Prdx3 |
A |
G |
19: 60,862,872 (GRCm39) |
S12P |
possibly damaging |
Het |
| Prkag2 |
T |
C |
5: 25,082,026 (GRCm39) |
I96V |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,068,889 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
G |
A |
4: 62,544,172 (GRCm39) |
V146M |
probably damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,998,138 (GRCm39) |
D164G |
probably damaging |
Het |
| Slc35d2 |
T |
C |
13: 64,259,324 (GRCm39) |
|
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,718,008 (GRCm39) |
N316D |
probably damaging |
Het |
| Snx14 |
A |
T |
9: 88,258,958 (GRCm39) |
M973K |
possibly damaging |
Het |
| Sptan1 |
C |
G |
2: 29,893,348 (GRCm39) |
R1126G |
probably damaging |
Het |
| Stpg3 |
T |
C |
2: 25,103,866 (GRCm39) |
T157A |
probably benign |
Het |
| Tmem39b |
A |
T |
4: 129,580,715 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tomm40l |
A |
T |
1: 171,049,471 (GRCm39) |
|
probably null |
Het |
| Tsen34 |
G |
T |
7: 3,698,395 (GRCm39) |
G180W |
probably damaging |
Het |
| Ube2l6 |
C |
T |
2: 84,636,717 (GRCm39) |
R54W |
probably damaging |
Het |
| Vdac1 |
A |
T |
11: 52,274,897 (GRCm39) |
T182S |
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,058,515 (GRCm39) |
|
probably benign |
Het |
| Wsb1 |
T |
A |
11: 79,139,411 (GRCm39) |
Q95L |
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 |
|
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'- ACTCAGGTTCCAGAGCCATTCCAG -3'
(R):5'- TGCAAAGTCCACGTCCATCCATAG -3'
Sequencing Primer
(F):5'- TCTGCTGTCCACACTGGAG -3'
(R):5'- CATAGCTCCTTGACGGAGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation