Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Cass4'

482362

Institutional Source

Beutler Lab

Gene Symbol

Cass4

Ensembl Gene

ENSMUSG00000074570

Gene Name

Cas scaffolding protein family member 4

Synonyms

F730031O20Rik

MMRRC Submission

044243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172235714-172275677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 172268832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 307 (A307S)

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: A305S

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

SMART Domains

Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: A305S

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: A305S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: A305S

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: A305S

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

SMART Domains

Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: A305S

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: A307S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,828,297 (GRCm39)	D958G	possibly damaging	Het
Bag4	T	C	8: 26,261,259 (GRCm39)	T161A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,374,720 (GRCm39)		probably null	Het
Cbln4	A	T	2: 171,884,016 (GRCm39)	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,826,015 (GRCm39)	N2K	probably benign	Het
Ccnf	T	A	17: 24,450,811 (GRCm39)	D389V	probably damaging	Het
Cdipt	T	C	7: 126,578,773 (GRCm39)	S161P	probably benign	Het
Ceacam19	T	C	7: 19,616,812 (GRCm39)	I161V	probably benign	Het
Cfap65	A	G	1: 74,959,564 (GRCm39)	I862T	probably damaging	Het
Cfi	T	A	3: 129,652,019 (GRCm39)	L230Q	probably benign	Het
Chac2	G	A	11: 30,936,159 (GRCm39)	R30W	probably damaging	Het
Cmc2	G	A	8: 117,616,566 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,505,840 (GRCm39)	M1L	probably benign	Het
Cox8a	C	A	19: 7,194,783 (GRCm39)	R32L	possibly damaging	Het
Cubn	T	A	2: 13,435,708 (GRCm39)	N1083Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,504 (GRCm39)	D132G	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,527,212 (GRCm39)	D358G	probably benign	Het
Dysf	T	C	6: 84,089,101 (GRCm39)	L888P	probably damaging	Het
Dysf	T	A	6: 83,996,586 (GRCm39)	F29L	probably damaging	Het
Ebf4	A	G	2: 130,151,643 (GRCm39)	D277G	probably damaging	Het
Ecm2	T	A	13: 49,668,570 (GRCm39)	L91*	probably null	Het
Foxs1	T	C	2: 152,774,762 (GRCm39)	D97G	possibly damaging	Het
Frs2	A	C	10: 116,912,714 (GRCm39)		probably null	Het
Grp	A	T	18: 66,013,008 (GRCm39)	D58V	probably damaging	Het
Hif1a	T	G	12: 73,988,616 (GRCm39)	F537C	probably damaging	Het
Icam4	G	A	9: 20,940,835 (GRCm39)	S29N	probably benign	Het
Itfg1	T	C	8: 86,452,799 (GRCm39)	E523G	probably benign	Het
Jph2	T	C	2: 163,217,600 (GRCm39)	K359E	probably damaging	Het
Katnip	G	A	7: 125,414,037 (GRCm39)	G394R	probably benign	Het
Kcnq2	A	T	2: 180,729,449 (GRCm39)	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,257,795 (GRCm39)	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,737,721 (GRCm39)	Y197C	probably benign	Het
Lrp1	T	C	10: 127,396,422 (GRCm39)	N2381D	probably benign	Het
Man1a	A	T	10: 53,795,307 (GRCm39)	W649R	probably damaging	Het
Map4	T	C	9: 109,893,360 (GRCm39)	L542P	probably damaging	Het
Mboat2	A	T	12: 24,928,284 (GRCm39)	H52L	probably damaging	Het
Mok	C	G	12: 110,781,380 (GRCm39)	S91T	probably benign	Het
Mtmr11	G	T	3: 96,075,400 (GRCm39)	R360L	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncoa4-ps	A	G	12: 119,225,386 (GRCm39)		noncoding transcript	Het
Or1j13	A	G	2: 36,369,524 (GRCm39)	V206A	probably benign	Het
Or4g7	A	T	2: 111,309,734 (GRCm39)	N202Y	probably damaging	Het
Or52z1	C	T	7: 103,437,162 (GRCm39)	M107I	probably benign	Het
Or55b4	T	C	7: 102,133,596 (GRCm39)	T244A	probably damaging	Het
Or7d11	A	T	9: 19,966,179 (GRCm39)	H75Q	possibly damaging	Het
Or7g21	A	G	9: 19,032,623 (GRCm39)	D121G	probably damaging	Het
Padi3	G	T	4: 140,523,154 (GRCm39)	T292N	probably damaging	Het
Pard6g	A	C	18: 80,160,420 (GRCm39)	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,740,726 (GRCm39)	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,819,289 (GRCm39)	T398I	probably damaging	Het
Prickle2	A	T	6: 92,393,829 (GRCm39)	C225*	probably null	Het
Prmt2	G	A	10: 76,046,278 (GRCm39)	T317I	probably benign	Het
Psg22	T	G	7: 18,453,705 (GRCm39)	N172K	probably benign	Het
Ptpn9	C	T	9: 56,940,447 (GRCm39)	R196*	probably null	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,026,622 (GRCm39)		probably null	Het
Rlf	A	T	4: 121,006,412 (GRCm39)	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,616,255 (GRCm39)	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007 (GRCm39)	E636G	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,738,838 (GRCm39)	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,680,110 (GRCm39)	M102V	probably benign	Het
Slc34a2	T	A	5: 53,224,989 (GRCm39)	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,492,496 (GRCm39)	V293A	probably benign	Het
Spidr	A	T	16: 15,957,888 (GRCm39)	S80T	possibly damaging	Het
Syne1	C	T	10: 5,298,994 (GRCm39)	E1031K	probably damaging	Het
Synj2	G	A	17: 6,067,889 (GRCm39)	V121I	probably damaging	Het
Synj2	A	T	17: 6,088,373 (GRCm39)	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,895,543 (GRCm39)	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,861,164 (GRCm39)	I986F	probably benign	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Ttll10	T	A	4: 156,129,814 (GRCm39)	D283V	probably benign	Het
Ttn	T	A	2: 76,645,123 (GRCm39)	K673*	probably null	Het
Ubqlnl	T	A	7: 103,797,905 (GRCm39)	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,832,721 (GRCm39)	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,024,467 (GRCm39)	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,366,205 (GRCm39)	Q243L	probably damaging	Het
Wdr24	C	A	17: 26,043,504 (GRCm39)	R109S	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp616	A	T	11: 73,974,672 (GRCm39)	K314*	probably null	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
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'- GCTATAACCCGTTATCCAGCCC -3'
(R):5'- ACACACCCTGCATGGCTTTAG -3'

Posted On

2017-07-14