Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Cass4'

551754

Institutional Source

Beutler Lab

Gene Symbol

Cass4

Ensembl Gene

ENSMUSG00000074570

Gene Name

Cas scaffolding protein family member 4

Synonyms

F730031O20Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001033538.2, NM_001080820.1; MGI:2444482

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172393794-172433757 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172427969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 657 (Y657C)

Ref Sequence

ENSEMBL: ENSMUSP00000096660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099061] [ENSMUST00000103073] [ENSMUST00000109136] [ENSMUST00000228775]

AlphaFold

Q08EC4

Predicted Effect

unknown
Transcript: ENSMUST00000099061
AA Change: Y657C

SMART Domains

Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: Y657C

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

SMART Domains

Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570

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

SMART Domains

Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	Het

Other mutations in Cass4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cass4	APN	2	172416250	missense	probably damaging	1.00
IGL00846:Cass4	APN	2	172429723	intron	probably benign
IGL01400:Cass4	APN	2	172427300	missense	probably damaging	1.00
IGL01985:Cass4	APN	2	172427206	missense	probably damaging	1.00
IGL02268:Cass4	APN	2	172427042	missense	possibly damaging	0.76
IGL02592:Cass4	APN	2	172416328	missense	probably benign	0.00
R0030:Cass4	UTSW	2	172427842	nonsense	probably null
R0035:Cass4	UTSW	2	172416492	missense	probably damaging	1.00
R0039:Cass4	UTSW	2	172426980	missense	probably damaging	1.00
R0631:Cass4	UTSW	2	172432411	missense	probably damaging	1.00
R1321:Cass4	UTSW	2	172424652	missense	probably benign	0.05
R1352:Cass4	UTSW	2	172416495	missense	probably damaging	0.98
R1612:Cass4	UTSW	2	172427078	missense	possibly damaging	0.46
R1720:Cass4	UTSW	2	172427734	missense	probably damaging	0.99
R1776:Cass4	UTSW	2	172427695	missense	probably benign
R1918:Cass4	UTSW	2	172427339	missense	possibly damaging	0.69
R2257:Cass4	UTSW	2	172427470	missense	probably damaging	1.00
R2257:Cass4	UTSW	2	172432558	missense	probably damaging	1.00
R2262:Cass4	UTSW	2	172427254	missense	probably damaging	1.00
R2924:Cass4	UTSW	2	172426672	missense	possibly damaging	0.89
R3498:Cass4	UTSW	2	172432558	missense	probably damaging	1.00
R3499:Cass4	UTSW	2	172432558	missense	probably damaging	1.00
R3792:Cass4	UTSW	2	172432558	missense	probably damaging	1.00
R3793:Cass4	UTSW	2	172432558	missense	probably damaging	1.00
R3901:Cass4	UTSW	2	172432558	missense	probably damaging	1.00
R4899:Cass4	UTSW	2	172427869	missense	probably benign
R5161:Cass4	UTSW	2	172432324	missense	probably damaging	1.00
R5534:Cass4	UTSW	2	172426768	missense	probably benign	0.13
R5646:Cass4	UTSW	2	172416245	missense	probably damaging	1.00
R5799:Cass4	UTSW	2	172416187	missense	probably damaging	1.00
R5873:Cass4	UTSW	2	172426768	missense	probably benign	0.13
R6084:Cass4	UTSW	2	172426912	missense	probably benign	0.01
R6360:Cass4	UTSW	2	172432611	missense	probably damaging	1.00
R6432:Cass4	UTSW	2	172427719	missense	probably damaging	1.00
R7212:Cass4	UTSW	2	172427186	nonsense	probably null
R7549:Cass4	UTSW	2	172426798	missense	probably benign	0.01
R7549:Cass4	UTSW	2	172426799	missense	probably benign	0.00
R7594:Cass4	UTSW	2	172429648	missense	probably benign	0.03
R7659:Cass4	UTSW	2	172427027	missense	probably damaging	1.00
R8003:Cass4	UTSW	2	172427959	missense	unknown
R8270:Cass4	UTSW	2	172427669	missense	probably damaging	1.00
R8296:Cass4	UTSW	2	172427174	missense	probably benign	0.28
R8378:Cass4	UTSW	2	172427794	missense	probably benign	0.05
R9332:Cass4	UTSW	2	172427886	missense	probably benign
R9340:Cass4	UTSW	2	172426766	missense	possibly damaging	0.82
R9485:Cass4	UTSW	2	172427885	missense	probably benign
R9522:Cass4	UTSW	2	172427428	missense	possibly damaging	0.46
R9683:Cass4	UTSW	2	172426736	missense	probably damaging	1.00
R9720:Cass4	UTSW	2	172427648	missense	probably benign
R9784:Cass4	UTSW	2	172427833	missense	probably benign	0.08
Z1177:Cass4	UTSW	2	172427575	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGTGAGAGATGCATCCGG -3'
(R):5'- ATAAGGACCTGGGCTCAACC -3'

Sequencing Primer
(F):5'- AGAGATGCATCCGGCCTCC -3'
(R):5'- GCACAAGCCTGTCTCTCCAG -3'

Posted On

2019-05-15