Mutagenetix > Incidental Mutation

Incidental Mutation 'R7212:Cass4'

561122

Institutional Source

Beutler Lab

Gene Symbol

Cass4

Ensembl Gene

ENSMUSG00000074570

Gene Name

Cas scaffolding protein family member 4

Synonyms

F730031O20Rik

MMRRC Submission

045340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172235714-172275677 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 172269106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 396 (L396*)

Ref Sequence

ENSEMBL: ENSMUSP00000104764 (fasta)

Gene Model

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

AlphaFold

Q08EC4

Predicted Effect

probably null
Transcript: ENSMUST00000099061
AA Change: L396*

SMART Domains

Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: L396*

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 null
Transcript: ENSMUST00000103073
AA Change: L396*

SMART Domains

Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: L396*

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 null
Transcript: ENSMUST00000109136
AA Change: L396*

SMART Domains

Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: L396*

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 null
Transcript: ENSMUST00000228775
AA Change: L398*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	C	T	6: 83,138,654 (GRCm39)	A193V	probably benign	Het
Aatf	C	T	11: 84,340,006 (GRCm39)	R435Q	probably damaging	Het
Abca13	A	G	11: 9,248,854 (GRCm39)	H2867R	probably benign	Het
Abcd2	C	T	15: 91,043,326 (GRCm39)	A621T	possibly damaging	Het
Actl11	T	A	9: 107,805,856 (GRCm39)	S60T	probably damaging	Het
Adam28	T	A	14: 68,874,846 (GRCm39)	N277I	probably damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Arhgap27	C	T	11: 103,251,581 (GRCm39)	R49Q	probably damaging	Het
Armc10	T	C	5: 21,865,581 (GRCm39)	S209P	probably damaging	Het
Atp6v0a1	T	C	11: 100,934,783 (GRCm39)	F617L	probably benign	Het
Bap1	T	A	14: 30,973,580 (GRCm39)	N2K	probably damaging	Het
Bltp1	C	A	3: 37,102,158 (GRCm39)	N1363K		Het
Ccdc40	A	G	11: 119,155,270 (GRCm39)	Q1170R	probably damaging	Het
Cdhr5	C	T	7: 140,852,572 (GRCm39)	R348H	probably damaging	Het
Cenpj	A	G	14: 56,790,109 (GRCm39)	S647P	probably benign	Het
Chordc1	T	A	9: 18,206,647 (GRCm39)		probably null	Het
Chordc1	T	C	9: 18,212,308 (GRCm39)	S41P	probably damaging	Het
Ckm	T	C	7: 19,148,978 (GRCm39)		probably null	Het
Clca3a1	A	C	3: 144,711,727 (GRCm39)	I756S	probably damaging	Het
Clcn1	T	C	6: 42,268,323 (GRCm39)	V165A	possibly damaging	Het
Clec4a4	T	A	6: 122,968,704 (GRCm39)		probably null	Het
Cog7	T	C	7: 121,576,537 (GRCm39)	K130E	probably damaging	Het
Coq7	A	G	7: 118,109,271 (GRCm39)	I259T	unknown	Het
Cp	T	C	3: 20,029,130 (GRCm39)	S536P	probably damaging	Het
Cyp2d10	T	A	15: 82,288,447 (GRCm39)		probably null	Het
Dcst2	A	G	3: 89,273,607 (GRCm39)	I162V	probably benign	Het
Dennd4c	A	G	4: 86,721,228 (GRCm39)	E630G	probably damaging	Het
Dpt	A	T	1: 164,624,484 (GRCm39)	I62F	probably benign	Het
Ednrb	T	A	14: 104,080,444 (GRCm39)	I157F	probably damaging	Het
Ext1	A	T	15: 53,208,558 (GRCm39)	W68R	probably benign	Het
Fgf4	A	G	7: 144,416,523 (GRCm39)	K152E	probably benign	Het
G530012D18Rik	A	T	1: 85,504,864 (GRCm39)	T90S	unknown	Het
Galnt17	T	C	5: 130,992,949 (GRCm39)	T322A	possibly damaging	Het
Gcm1	A	T	9: 77,966,925 (GRCm39)	D48V	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm49358	G	T	10: 86,661,071 (GRCm39)	R353L	probably damaging	Het
Golga4	A	G	9: 118,365,908 (GRCm39)	E320G	possibly damaging	Het
Herc3	T	C	6: 58,895,758 (GRCm39)	I1002T	probably damaging	Het
Hip1r	T	A	5: 124,111,845 (GRCm39)	V7E	possibly damaging	Het
Hipk1	G	A	3: 103,684,926 (GRCm39)	Q230*	probably null	Het
Igsf9b	C	T	9: 27,242,992 (GRCm39)	P726L	probably damaging	Het
Itgb6	T	C	2: 60,464,998 (GRCm39)	I345V	probably damaging	Het
Lhx4	G	T	1: 155,600,699 (GRCm39)	Q29K	probably benign	Het
Manba	A	G	3: 135,273,396 (GRCm39)	T777A	probably benign	Het
Mcm3ap	A	G	10: 76,337,145 (GRCm39)	D1360G	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mmp14	T	G	14: 54,673,336 (GRCm39)	D81E	probably damaging	Het
Naalad2	T	C	9: 18,275,337 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or7a38	A	T	10: 78,753,339 (GRCm39)	I222L	possibly damaging	Het
Or8b35	T	A	9: 37,904,253 (GRCm39)	M150K	possibly damaging	Het
Pacs2	A	G	12: 113,025,312 (GRCm39)	D488G	possibly damaging	Het
Prr5	T	G	15: 84,629,993 (GRCm39)	L108R	probably null	Het
Psg23	A	G	7: 18,341,064 (GRCm39)	S397P	probably benign	Het
Rfpl4	C	A	7: 5,113,659 (GRCm39)	R174L	probably damaging	Het
Runx3	T	A	4: 134,880,090 (GRCm39)	I3N	probably damaging	Het
Scn5a	A	T	9: 119,372,451 (GRCm39)	N214K	possibly damaging	Het
Slc27a1	T	C	8: 72,037,092 (GRCm39)	I412T	probably damaging	Het
Sptbn4	T	G	7: 27,116,210 (GRCm39)	T530P	probably benign	Het
Tex15	A	T	8: 34,060,854 (GRCm39)	R95*	probably null	Het
Tex15	T	C	8: 34,063,023 (GRCm39)	S818P	probably damaging	Het
Tmod1	A	T	4: 46,093,951 (GRCm39)	K221*	probably null	Het
Tpm3	G	A	3: 89,998,361 (GRCm39)	D272N	probably benign	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Ugt2b5	A	T	5: 87,273,131 (GRCm39)	C512S	probably benign	Het
Vmn2r82	A	T	10: 79,215,268 (GRCm39)	E417V	probably benign	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Zfp217	A	T	2: 169,956,072 (GRCm39)	S975R	probably benign	Het
Zfr	C	T	15: 12,146,309 (GRCm39)	Q287*	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
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
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'- TATTCCCAGAGTGGAGCAACAG -3'
(R):5'- CTGCTTACAAAGAGCAGCAGG -3'

Sequencing Primer
(F):5'- AGAACACCATGCCTAACATTTATG -3'
(R):5'- AAGAGCAGCAGGCCCGC -3'

Posted On

2019-06-26