Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02174:Cabs1'

283024

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 #

IGL02174

Quality Score

Status

Chromosome

Chromosomal Location

88127310-88129400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88128339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 330 (E330G)

Ref Sequence

ENSEMBL: ENSMUSP00000008051 (fasta)

Gene Model

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

AlphaFold

Q8C633

Predicted Effect

probably benign
Transcript: ENSMUST00000008051
AA Change: E330G

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

SMART Domains

Protein: ENSMUSP00000008051
Gene: ENSMUSG00000007907
AA Change: E330G

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,738,154 (GRCm39)	I1199V	probably damaging	Het
Adgrv1	G	A	13: 81,575,783 (GRCm39)	T4861I	probably benign	Het
Ampd2	T	C	3: 107,987,601 (GRCm39)	D108G	probably damaging	Het
Azin1	A	G	15: 38,493,730 (GRCm39)	F298L	probably benign	Het
Bag1	T	A	4: 40,941,555 (GRCm39)	E123D	possibly damaging	Het
Ccdc33	T	C	9: 57,940,938 (GRCm39)	K435E	probably benign	Het
Clip2	T	G	5: 134,523,118 (GRCm39)	K943T	probably damaging	Het
Cmya5	T	C	13: 93,185,415 (GRCm39)	I3527V	possibly damaging	Het
Cyp2w1	C	T	5: 139,341,384 (GRCm39)	R244C	probably benign	Het
Dcaf13	C	A	15: 39,001,544 (GRCm39)	A284E	probably damaging	Het
Ddx31	T	A	2: 28,749,041 (GRCm39)	L279Q	probably damaging	Het
Dgki	A	G	6: 37,009,856 (GRCm39)	L497P	probably damaging	Het
Dnah12	A	T	14: 26,428,072 (GRCm39)	I233F	probably benign	Het
Dpp6	G	T	5: 27,926,085 (GRCm39)	G720*	probably null	Het
Emc1	T	C	4: 139,098,979 (GRCm39)	Y821H	possibly damaging	Het
Esr1	C	T	10: 4,948,003 (GRCm39)	R519W	probably damaging	Het
Gamt	A	T	10: 80,094,230 (GRCm39)	V227E	possibly damaging	Het
Habp2	A	G	19: 56,300,169 (GRCm39)	Q206R	probably damaging	Het
Ihh	A	G	1: 74,990,105 (GRCm39)	I90T	probably damaging	Het
Kif20b	T	C	19: 34,911,858 (GRCm39)		probably benign	Het
Lcp2	T	C	11: 34,000,966 (GRCm39)		probably benign	Het
Lyrm2	A	G	4: 32,800,649 (GRCm39)	I29V	probably benign	Het
Macf1	T	C	4: 123,385,587 (GRCm39)	D1168G	probably damaging	Het
Mocos	T	C	18: 24,828,953 (GRCm39)	S753P	probably benign	Het
Myo3a	A	G	2: 22,337,204 (GRCm39)	E367G	probably benign	Het
Ndor1	G	A	2: 25,139,206 (GRCm39)	A255V	possibly damaging	Het
Nfat5	C	T	8: 108,065,683 (GRCm39)	P148S	probably damaging	Het
Or4c121	A	T	2: 89,023,712 (GRCm39)	F222Y	probably benign	Het
Or5al7	T	A	2: 85,992,442 (GRCm39)	M284L	possibly damaging	Het
Or6z7	T	C	7: 6,483,438 (GRCm39)	Y239C	probably benign	Het
Or8b41	A	T	9: 38,055,081 (GRCm39)	T217S	possibly damaging	Het
Pappa2	C	T	1: 158,589,188 (GRCm39)	C1679Y	probably damaging	Het
Pcdhb2	T	A	18: 37,429,551 (GRCm39)	I508N	probably damaging	Het
Pkd2l1	G	A	19: 44,145,707 (GRCm39)	T172I	probably benign	Het
Pld5	A	G	1: 176,102,310 (GRCm39)	V44A	possibly damaging	Het
Prss44	T	C	9: 110,646,199 (GRCm39)	W309R	probably damaging	Het
Rc3h2	A	T	2: 37,301,237 (GRCm39)	N88K	probably benign	Het
Rspry1	A	G	8: 95,359,768 (GRCm39)	I102M	possibly damaging	Het
Stab2	A	G	10: 86,695,606 (GRCm39)		probably null	Het
Tbx3	C	A	5: 119,813,649 (GRCm39)	Y228*	probably null	Het
Tcf15	G	T	2: 151,986,065 (GRCm39)		probably benign	Het
Tmem41b	A	G	7: 109,578,003 (GRCm39)	S94P	possibly damaging	Het
Trmt10b	A	T	4: 45,308,508 (GRCm39)	I223F	possibly damaging	Het
Tyrp1	G	T	4: 80,763,063 (GRCm39)	G317*	probably null	Het
Urod	T	A	4: 116,847,479 (GRCm39)		probably benign	Het
Vwf	G	T	6: 125,532,358 (GRCm39)	R52L	probably damaging	Het
Wnk2	C	A	13: 49,210,643 (GRCm39)	Q232H	probably damaging	Het
Zbtb10	C	A	3: 9,316,872 (GRCm39)	P228Q	probably damaging	Het
Zfp764l1	G	A	7: 126,991,525 (GRCm39)	T154I	possibly 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
IGL01999:Cabs1	APN	5	88,127,787 (GRCm39)	missense	possibly damaging	0.95
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

2015-04-16