Mutagenetix > Incidental Mutations

Incidental Mutation 'R5873:Cass4'

455295

Institutional Source

Beutler Lab

Gene Symbol

Cass4

Ensembl Gene

ENSMUSG00000074570

Gene Name

Cas scaffolding protein family member 4

Synonyms

F730031O20Rik

MMRRC Submission

044080-MU

Accession Numbers

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172393794-172433757 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 172426768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 259 (V259L)

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: V257L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: V257L

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: V257L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: V257L

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: V257L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: V257L

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

probably benign
Transcript: ENSMUST00000228775
AA Change: V259L

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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
4921524L21Rik	T	A	18: 6,630,167		probably null	Het
4930505A04Rik	T	A	11: 30,426,220	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,624,768		probably benign	Het
Abcc4	G	T	14: 118,526,290	D1044E	probably benign	Het
Adgre4	A	G	17: 55,852,282	T656A	probably benign	Het
Ankk1	T	C	9: 49,415,896	N661S	probably benign	Het
Asah2	A	G	19: 32,003,682		probably null	Het
Asxl3	A	G	18: 22,516,085	D377G	probably benign	Het
C3ar1	A	G	6: 122,850,422	S279P	probably benign	Het
C7	A	G	15: 5,005,235	V610A	probably damaging	Het
Cacna2d3	C	A	14: 29,720,934	A48S	probably benign	Het
Card11	T	A	5: 140,908,638	I79F	probably damaging	Het
Casc3	A	G	11: 98,821,444	Y103C	unknown	Het
Col14a1	A	G	15: 55,445,786		probably benign	Het
Cox10	A	G	11: 64,071,686	S110P	probably benign	Het
Cpt1b	T	C	15: 89,420,728	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,065,893		probably null	Het
Cyp2b23	C	T	7: 26,675,006	R271H	probably benign	Het
Dnah17	T	C	11: 118,056,897	I3039V	probably benign	Het
Dnpep	T	C	1: 75,315,143	D242G	probably damaging	Het
Dock10	T	A	1: 80,574,138	N660I	probably damaging	Het
Esco2	T	C	14: 65,824,191	D471G	probably benign	Het
Evpl	A	T	11: 116,234,432	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,423,416	I142F	probably damaging	Het
Fry	C	A	5: 150,378,885	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,873,750	F92I	probably benign	Het
Galm	A	G	17: 80,138,103	E94G	probably benign	Het
Gfy	T	G	7: 45,177,580	H364P	probably damaging	Het
Helz2	A	G	2: 181,234,028	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,707,700	Q600L	probably damaging	Het
Hnrnph3	A	G	10: 63,019,391		probably null	Het
Igkv4-90	T	A	6: 68,807,469	N21I	probably benign	Het
Kpna1	A	G	16: 36,014,228		probably benign	Het
Krt28	A	C	11: 99,366,890	L375R	probably damaging	Het
Lrrn1	T	C	6: 107,568,975	V578A	probably damaging	Het
Lta4h	T	C	10: 93,469,190		probably null	Het
Matk	T	A	10: 81,260,129	V166E	probably benign	Het
Muc4	C	A	16: 32,751,295	T391K	possibly damaging	Het
Mybl1	T	A	1: 9,685,665	T220S	possibly damaging	Het
Nrp1	T	C	8: 128,468,377	V438A	probably damaging	Het
Olfr1371	A	T	11: 52,213,353	L212Q	probably damaging	Het
Olfr414	T	A	1: 174,430,782	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,808,176	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,027,949	D911V	probably damaging	Het
Pkd1	A	G	17: 24,569,830	Q854R	probably benign	Het
Ppl	A	G	16: 5,106,049		probably null	Het
Ppp1r26	A	G	2: 28,451,605	T416A	probably benign	Het
Prdm15	T	C	16: 97,808,689	D585G	probably damaging	Het
Rbak	A	G	5: 143,173,711	V529A	probably benign	Het
Rc3h1	C	T	1: 160,959,501	T822I	probably damaging	Het
Slc25a18	A	T	6: 120,786,281		probably null	Het
Taf2	T	C	15: 55,038,422	N792S	probably benign	Het
Tat	T	C	8: 109,991,949		probably null	Het
Tbx21	A	T	11: 97,114,648		probably null	Het
Txndc11	A	G	16: 11,075,205	L887P	probably damaging	Het
Usp10	A	G	8: 119,947,092	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,061,674	H736L	probably benign	Het
Vstm2a	T	A	11: 16,258,044	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,220,394	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,536,383	R36*	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
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
R7116:Cass4	UTSW	2	172427969	missense	unknown
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
Z1177:Cass4	UTSW	2	172427575	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCGGGGACAACTTTGTGTG -3'
(R):5'- CCACTCTGGGAATAAGAAACCTG -3'

Sequencing Primer
(F):5'- GGACAACTTTGTGTGTGTGTG -3'
(R):5'- ACCTGGAAGGGACCTTGTAGC -3'

Posted On

2017-02-10