Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01999:Cabs1'

182154

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cabs1

Ensembl Gene

ENSMUSG00000007907

Gene Name

calcium binding protein, spermatid specific 1

Synonyms

4931407G18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01999

Quality Score

Status

Chromosome

Chromosomal Location

88127310-88129400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88127787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 146 (T146I)

Ref Sequence

ENSEMBL: ENSMUSP00000008051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008051] [ENSMUST00000187738]

AlphaFold

Q8C633

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008051
AA Change: T146I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000008051
Gene: ENSMUSG00000007907
AA Change: T146I

Domain	Start	End	E-Value	Type
Pfam:CABS1	1	391	6.1e-192	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190123

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap161	C	T	7: 83,440,899 (GRCm39)	V118M	probably damaging	Het
Cfap95	C	A	19: 23,569,529 (GRCm39)	L130F	possibly damaging	Het
Chrna7	T	C	7: 62,753,539 (GRCm39)	M327V	probably damaging	Het
Ddx18	A	G	1: 121,489,457 (GRCm39)	I228T	probably benign	Het
Dnhd1	T	A	7: 105,370,422 (GRCm39)	S4616T	possibly damaging	Het
Dsp	T	A	13: 38,365,162 (GRCm39)	M515K	probably damaging	Het
Dysf	C	T	6: 84,090,600 (GRCm39)	P1002L	probably damaging	Het
Exoc7	T	C	11: 116,191,926 (GRCm39)		probably null	Het
Gria2	G	A	3: 80,639,398 (GRCm39)	R205W	probably damaging	Het
Hacd2	T	C	16: 34,869,083 (GRCm39)		probably benign	Het
Helz	G	T	11: 107,493,754 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,202,155 (GRCm39)	N352S	probably benign	Het
Mfsd11	T	A	11: 116,752,411 (GRCm39)	F135I	probably damaging	Het
Mtmr10	A	G	7: 63,987,460 (GRCm39)	N667D	probably benign	Het
Mtmr9	A	C	14: 63,779,903 (GRCm39)	F62C	probably damaging	Het
Nelfcd	T	C	2: 174,265,308 (GRCm39)		probably benign	Het
Nfasc	A	G	1: 132,532,985 (GRCm39)		probably benign	Het
Npnt	C	T	3: 132,614,160 (GRCm39)	R150Q	probably damaging	Het
Or5b108	G	A	19: 13,168,924 (GRCm39)	A298T	probably damaging	Het
Or5p55	C	T	7: 107,566,675 (GRCm39)	R24C	probably benign	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Pcdhb2	C	T	18: 37,429,890 (GRCm39)	A621V	probably damaging	Het
Pkd1l1	C	A	11: 8,786,291 (GRCm39)	W1921L	probably benign	Het
Plcb1	G	A	2: 135,188,238 (GRCm39)	R777Q	probably damaging	Het
Plch1	G	A	3: 63,660,728 (GRCm39)	P297L	probably damaging	Het
Ppp2r2b	T	C	18: 42,778,788 (GRCm39)		probably benign	Het
Ppp6r2	A	G	15: 89,154,155 (GRCm39)	D372G	probably benign	Het
Rtn4r	A	G	16: 17,969,321 (GRCm39)	R250G	possibly damaging	Het
Sec61a2	A	G	2: 5,896,174 (GRCm39)		probably benign	Het
Sema3g	G	T	14: 30,939,922 (GRCm39)	V19L	probably benign	Het
Sult2a7	T	C	7: 14,225,648 (GRCm39)	T113A	probably benign	Het
Tcp11l1	T	C	2: 104,528,914 (GRCm39)	D128G	possibly damaging	Het
Tln2	C	T	9: 67,299,787 (GRCm39)	R155Q	possibly damaging	Het
Vcan	A	G	13: 89,832,557 (GRCm39)	L2150P	probably damaging	Het
Vmn1r40	A	C	6: 89,691,948 (GRCm39)	N255T	probably benign	Het
Vmn2r68	T	C	7: 84,871,439 (GRCm39)	N615D	probably damaging	Het
Zdhhc25	A	G	15: 88,485,217 (GRCm39)	E184G	probably damaging	Het

Other mutations in Cabs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Cabs1	APN	5	88,127,869 (GRCm39)	missense	possibly damaging	0.64
IGL02174:Cabs1	APN	5	88,128,339 (GRCm39)	missense	probably benign
IGL02930:Cabs1	APN	5	88,127,745 (GRCm39)	missense	probably damaging	0.99
R0126:Cabs1	UTSW	5	88,128,054 (GRCm39)	missense	probably damaging	1.00
R1590:Cabs1	UTSW	5	88,127,490 (GRCm39)	missense	probably damaging	0.99
R1893:Cabs1	UTSW	5	88,127,894 (GRCm39)	missense	probably benign	0.00
R2257:Cabs1	UTSW	5	88,128,074 (GRCm39)	missense	probably damaging	0.99
R2364:Cabs1	UTSW	5	88,128,092 (GRCm39)	missense	probably benign	0.00
R4078:Cabs1	UTSW	5	88,128,161 (GRCm39)	missense	probably damaging	0.99
R4914:Cabs1	UTSW	5	88,128,296 (GRCm39)	missense	probably damaging	1.00
R5318:Cabs1	UTSW	5	88,128,425 (GRCm39)	missense	possibly damaging	0.95
R5356:Cabs1	UTSW	5	88,127,492 (GRCm39)	missense	probably benign
R6152:Cabs1	UTSW	5	88,127,613 (GRCm39)	missense	possibly damaging	0.95
R6154:Cabs1	UTSW	5	88,127,613 (GRCm39)	missense	possibly damaging	0.95
R6159:Cabs1	UTSW	5	88,127,613 (GRCm39)	missense	possibly damaging	0.95
R6169:Cabs1	UTSW	5	88,127,613 (GRCm39)	missense	possibly damaging	0.95
R6177:Cabs1	UTSW	5	88,127,613 (GRCm39)	missense	possibly damaging	0.95
R6505:Cabs1	UTSW	5	88,128,522 (GRCm39)	missense	possibly damaging	0.85
R7726:Cabs1	UTSW	5	88,128,145 (GRCm39)	missense	probably damaging	0.98
R9035:Cabs1	UTSW	5	88,128,309 (GRCm39)	missense	probably damaging	0.98
R9239:Cabs1	UTSW	5	88,127,385 (GRCm39)	missense	probably benign	0.12
R9351:Cabs1	UTSW	5	88,128,300 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07