Mutagenetix > Incidental Mutation

Incidental Mutation 'R9332:Cass4'

706896

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) question?

Stock #

R9332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172235714-172275677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 172269806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 629 (F629L)

Ref Sequence

ENSEMBL: ENSMUSP00000104764 (fasta)

Gene Model

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

AlphaFold

Q08EC4

Predicted Effect

probably benign
Transcript: ENSMUST00000099061
AA Change: F629L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: F629L

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: F629L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: F629L

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: F629L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: F629L

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: F631L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	G	13: 112,459,677 (GRCm39)	D90E	probably damaging	Het
Arid1b	C	A	17: 5,045,584 (GRCm39)	P124Q	unknown	Het
Atxn2	C	T	5: 121,923,425 (GRCm39)	P698L	probably damaging	Het
Bend7	T	C	2: 4,757,531 (GRCm39)	V191A	probably benign	Het
Bltp1	G	A	3: 37,104,989 (GRCm39)	D1485N		Het
C2cd4a	T	G	9: 67,738,779 (GRCm39)	H88P	probably damaging	Het
Cacna1s	C	T	1: 136,020,452 (GRCm39)	Q830*	probably null	Het
Camta1	T	C	4: 151,228,474 (GRCm39)	E786G	possibly damaging	Het
Caprin1	A	G	2: 103,603,390 (GRCm39)	S443P	probably benign	Het
Ccdc149	T	A	5: 52,562,399 (GRCm39)	D209V	probably damaging	Het
Ccdc150	T	C	1: 54,316,910 (GRCm39)	V263A	probably damaging	Het
Cfc1	C	T	1: 34,576,453 (GRCm39)	R145C	probably damaging	Het
Cnn1	C	A	9: 22,019,350 (GRCm39)	D239E	probably damaging	Het
Cobll1	C	T	2: 64,933,516 (GRCm39)	S493N	probably benign	Het
Cox20	A	T	1: 178,146,771 (GRCm39)	K13*	probably null	Het
Dclk1	G	A	3: 55,370,500 (GRCm39)	S340N	probably damaging	Het
Dennd2c	T	A	3: 103,038,877 (GRCm39)	D8E	probably benign	Het
Dnajc10	A	T	2: 80,175,327 (GRCm39)	K571N	probably benign	Het
Dock7	T	A	4: 98,896,280 (GRCm39)	I58F		Het
Dpy19l4	A	G	4: 11,304,298 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,483,918 (GRCm39)	D218G	probably benign	Het
Eya4	G	T	10: 22,989,845 (GRCm39)	T504K	probably damaging	Het
Fam222a	T	C	5: 114,749,398 (GRCm39)	I198T	probably damaging	Het
Fbxw10	T	A	11: 62,748,585 (GRCm39)	F404Y	probably benign	Het
Fbxw24	A	T	9: 109,452,681 (GRCm39)	Y105N	probably damaging	Het
Fzd10	T	G	5: 128,678,316 (GRCm39)	L12R	possibly damaging	Het
Gm14443	A	G	2: 175,017,610 (GRCm39)		probably benign	Het
Gm21028	A	T	7: 42,227,904 (GRCm39)	C37S	probably damaging	Het
Gpr179	G	T	11: 97,229,551 (GRCm39)	A868E	probably damaging	Het
Greb1l	T	A	18: 10,532,796 (GRCm39)	Y897N	possibly damaging	Het
Grid1	A	T	14: 35,045,360 (GRCm39)	Y401F	probably benign	Het
Heatr5a	G	A	12: 51,946,068 (GRCm39)	T1181I	probably benign	Het
Herc4	G	A	10: 63,144,125 (GRCm39)	V753I	probably damaging	Het
Htra1	A	T	7: 130,563,851 (GRCm39)	K241*	probably null	Het
Kat6b	A	G	14: 21,720,093 (GRCm39)	I1482V	probably benign	Het
Kif19a	G	T	11: 114,680,033 (GRCm39)	R790L	possibly damaging	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Lpcat1	T	C	13: 73,659,462 (GRCm39)	L408S	probably damaging	Het
Lrrc69	T	A	4: 14,774,987 (GRCm39)	R94W	probably damaging	Het
Map4	A	G	9: 109,864,223 (GRCm39)	T483A	probably benign	Het
Mettl3	C	A	14: 52,534,125 (GRCm39)	C483F	probably damaging	Het
Myh13	A	G	11: 67,254,109 (GRCm39)	D1543G	possibly damaging	Het
Myh2	G	A	11: 67,070,209 (GRCm39)	V414I	probably damaging	Het
Myh7b	C	T	2: 155,470,722 (GRCm39)	R1057C	probably damaging	Het
Myo9b	A	G	8: 71,812,246 (GRCm39)	S2006G	probably benign	Het
Nelfcd	A	G	2: 174,264,978 (GRCm39)	K239R	probably benign	Het
Nlrp4a	T	C	7: 26,159,077 (GRCm39)	S786P	probably damaging	Het
Or5g23	T	A	2: 85,438,331 (GRCm39)	K308*	probably null	Het
Or6c205	A	G	10: 129,086,972 (GRCm39)	T190A	probably damaging	Het
Pdzrn4	G	T	15: 92,295,216 (GRCm39)	V141L	probably benign	Het
Phip	G	T	9: 82,757,412 (GRCm39)	R1587S	probably damaging	Het
Plce1	A	G	19: 38,726,377 (GRCm39)	E1448G	probably damaging	Het
Plrg1	T	C	3: 82,976,308 (GRCm39)	S326P	possibly damaging	Het
Pom121l2	T	A	13: 22,165,852 (GRCm39)	V41E	probably damaging	Het
Pramel17	C	T	4: 101,695,144 (GRCm39)	V56M	probably damaging	Het
Preb	G	T	5: 31,113,673 (GRCm39)	S311*	probably null	Het
Prss33	T	A	17: 24,053,723 (GRCm39)	D118V	probably damaging	Het
Pum1	C	A	4: 130,499,209 (GRCm39)	Y1008*	probably null	Het
Rassf2	G	A	2: 131,846,326 (GRCm39)	R144C	probably damaging	Het
Rnf123	A	T	9: 107,944,704 (GRCm39)	M429K	probably benign	Het
Rtl1	T	A	12: 109,557,291 (GRCm39)	H1516L	probably benign	Het
Scyl3	T	A	1: 163,764,007 (GRCm39)	N124K	probably damaging	Het
Sec24b	A	G	3: 129,801,220 (GRCm39)	S488P	probably benign	Het
Shc4	T	A	2: 125,520,618 (GRCm39)	D277V	probably damaging	Het
Sorl1	T	A	9: 41,912,814 (GRCm39)	D1389V	probably damaging	Het
Srcap	T	A	7: 127,158,812 (GRCm39)	I2896N	unknown	Het
Steap3	T	A	1: 120,155,564 (GRCm39)	Y465F	probably benign	Het
Tecta	C	A	9: 42,284,193 (GRCm39)	C964F	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem178b	G	A	6: 39,981,181 (GRCm39)	W72*	probably null	Het
Tmem235	T	G	11: 117,751,665 (GRCm39)	Y30D	probably damaging	Het
Tpst1	C	A	5: 130,163,301 (GRCm39)	T366K	probably benign	Het
Trdv2-1	C	A	14: 54,183,848 (GRCm39)	P27T	probably benign	Het
Trim37	G	T	11: 87,058,328 (GRCm39)	L335F	possibly damaging	Het
Usp9y	G	A	Y: 1,341,873 (GRCm39)	R1331W	probably damaging	Het
Vmn1r1	T	G	1: 181,985,002 (GRCm39)	H221P	probably damaging	Het
Vmn2r6	A	T	3: 64,454,671 (GRCm39)	S543T	probably benign	Het
Wdpcp	C	T	11: 21,661,522 (GRCm39)	P265S	probably benign	Het
Wdr64	T	C	1: 175,599,871 (GRCm39)	L566P	possibly damaging	Het
Zfp248	A	G	6: 118,405,891 (GRCm39)	I566T	possibly damaging	Het
Zfp595	T	A	13: 67,465,463 (GRCm39)	I270F	probably damaging	Het
Zfp715	A	G	7: 42,948,847 (GRCm39)	L371P	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
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
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'- TTTGTCGCCACTGCACGAATAG -3'
(R):5'- CTGAGGAACAATACCCAGGC -3'

Sequencing Primer
(F):5'- TTCCAGAAGACGTCAAGAGGTTTACC -3'
(R):5'- AATACCCAGGCTTATCCTATGGC -3'

Posted On

2022-04-18