Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Cass4'

273645

Institutional Source

Beutler Lab

Gene Symbol

Cass4

Ensembl Gene

ENSMUSG00000074570

Gene Name

Cas scaffolding protein family member 4

Synonyms

F730031O20Rik

MMRRC Submission

040661-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3498 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

172393794-172433757 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 172432558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 753 (P753L)

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

SMART Domains

Protein: ENSMUSP00000096660
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	4.2e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103073
AA Change: P751L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: P751L

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 damaging
Transcript: ENSMUST00000109136
AA Change: P777L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: P777L

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 damaging
Transcript: ENSMUST00000228775
AA Change: P753L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3954

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
A3galt2	T	C	4: 128,755,557	F6L	probably benign	Het
Aurkc	A	G	7: 7,000,030	I175V	probably damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bcat1	A	G	6: 145,019,342	V45A	probably damaging	Het
Ddx42	A	G	11: 106,231,193	E178G	possibly damaging	Het
Dmpk	T	C	7: 19,086,381	I101T	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Fosb	C	T	7: 19,306,632	R161H	probably damaging	Het
Gm6729	T	C	10: 86,540,718		noncoding transcript	Het
Gnb1	T	A	4: 155,555,026	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Ighe	G	A	12: 113,271,374	Q389*	probably null	Het
Kcnj11	T	C	7: 46,099,602	D23G	probably damaging	Het
Lats2	G	T	14: 57,722,466	A191E	possibly damaging	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Map4	G	T	9: 110,035,212	V502L	probably benign	Het
Mgat5	A	G	1: 127,384,834	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,216,525	R68G	probably benign	Het
Nell1	T	A	7: 50,258,179	V362E	possibly damaging	Het
Olfr1031	T	A	2: 85,992,430	F204L	probably benign	Het
Olfr792	T	A	10: 129,540,909	I124N	probably damaging	Het
P4ha2	T	C	11: 54,119,253	Y279H	probably benign	Het
Pcid2	A	G	8: 13,100,413	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,122,770	I116T	probably benign	Het
Prdm9	A	G	17: 15,562,945		probably benign	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sde2	T	A	1: 180,858,185	C101S	probably damaging	Het
Sec1	T	C	7: 45,679,239	H128R	probably damaging	Het
Serpinb6a	A	T	13: 33,918,781	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,313,973	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,992,053	K328N	probably benign	Het
Slc24a4	A	T	12: 102,234,692	K278N	probably benign	Het
Slc6a21	T	A	7: 45,280,842	W222R	probably damaging	Het
Slc7a2	A	G	8: 40,912,530	E466G	probably benign	Het
Sspo	A	G	6: 48,467,980	T2133A	possibly damaging	Het
Taco1	A	G	11: 106,072,538	M172V	probably benign	Het
Tmem127	T	A	2: 127,256,120	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Vac14	A	G	8: 110,671,090	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,835,242	K162I	probably benign	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
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
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
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'- TCATCACTCAGAGCAAGCTAGTC -3'
(R):5'- AGGTCTTGACTTGTCGCCTG -3'

Sequencing Primer
(F):5'- AGCTAGTCATCACAGTTGGAC -3'
(R):5'- ACCTCGTGGTCAGTCAGTG -3'

Posted On

2015-04-02