Mutagenetix > Incidental Mutation

Incidental Mutation 'R6152:Cabs1'

489330

Institutional Source

Beutler Lab

Gene Symbol

Cabs1

Ensembl Gene

ENSMUSG00000007907

Gene Name

calcium binding protein, spermatid specific 1

Synonyms

4931407G18Rik

MMRRC Submission

044299-MU

Accession Numbers

Essential gene?

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

Stock #

R6152 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88127310-88129400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88127613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 88 (T88I)

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: T88I

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

SMART Domains

Protein: ENSMUSP00000008051
Gene: ENSMUSG00000007907
AA Change: T88I

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

Meta Mutation Damage Score

0.4121

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,204,187 (GRCm39)	C363R	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anln	A	C	9: 22,271,803 (GRCm39)	I684R	probably damaging	Het
Atoh7	A	T	10: 62,936,278 (GRCm39)	D115V	probably damaging	Het
Atp11a	T	A	8: 12,896,100 (GRCm39)	I223K	probably damaging	Het
Cblb	T	A	16: 51,961,419 (GRCm39)	C345S	probably damaging	Het
Cep250	A	G	2: 155,823,358 (GRCm39)	E1003G	possibly damaging	Het
Chpf	C	T	1: 75,452,287 (GRCm39)	R389H	possibly damaging	Het
Cntnap5c	A	G	17: 58,593,881 (GRCm39)	D740G	possibly damaging	Het
Col19a1	T	C	1: 24,413,702 (GRCm39)	T411A	unknown	Het
Dgat2	T	C	7: 98,813,885 (GRCm39)	N99S	probably benign	Het
Fbxo7	A	T	10: 85,860,560 (GRCm39)	T56S	probably benign	Het
Gm15130	T	A	2: 110,974,950 (GRCm39)	Q71L	unknown	Het
Gpr161	T	A	1: 165,137,864 (GRCm39)	V150E	possibly damaging	Het
Hmcn1	T	C	1: 150,441,176 (GRCm39)	E5360G	probably damaging	Het
Hmg20a	A	G	9: 56,388,892 (GRCm39)	D153G	probably damaging	Het
Hrct1	T	A	4: 43,727,498 (GRCm39)	V46D	possibly damaging	Het
Idh1	T	C	1: 65,198,689 (GRCm39)	T394A	probably damaging	Het
Kazn	A	G	4: 141,836,598 (GRCm39)	I547T	unknown	Het
Klhdc3	A	T	17: 46,988,633 (GRCm39)	I142N	probably damaging	Het
Lrrc39	G	T	3: 116,364,624 (GRCm39)		probably null	Het
Mamdc4	T	C	2: 25,457,451 (GRCm39)	D510G	probably damaging	Het
Mcm2	TTCTGATAGATGGTCTG	TTCTG	6: 88,866,891 (GRCm39)		probably benign	Het
Ndfip2	A	G	14: 105,535,538 (GRCm39)	I275V	possibly damaging	Het
Or1i2	T	C	10: 78,448,409 (GRCm39)	D22G	probably benign	Het
Or5b24	A	T	19: 12,912,851 (GRCm39)	I250L	probably benign	Het
Pacsin2	A	C	15: 83,261,900 (GRCm39)	D154E	probably damaging	Het
Pcdhb5	T	A	18: 37,455,886 (GRCm39)	C755*	probably null	Het
Pcnx2	T	C	8: 126,480,491 (GRCm39)	S1939G	probably damaging	Het
Pfkl	A	T	10: 77,825,985 (GRCm39)	H602Q	probably benign	Het
Pon3	G	A	6: 5,221,716 (GRCm39)	R305C	probably damaging	Het
Prpf6	A	G	2: 181,263,580 (GRCm39)	R147G	probably damaging	Het
Sh3yl1	A	G	12: 30,992,034 (GRCm39)	E201G	probably benign	Het
Slc25a36	A	G	9: 96,982,210 (GRCm39)	Y22H	probably damaging	Het
Sult6b2	A	C	6: 142,750,102 (GRCm39)	S5R	probably benign	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tysnd1	A	G	10: 61,532,113 (GRCm39)	D255G	probably damaging	Het
Zbtb6	A	C	2: 37,319,255 (GRCm39)	I224M	probably benign	Het
Zdhhc8	G	T	16: 18,041,202 (GRCm39)	N719K	possibly damaging	Het
Zkscan16	A	G	4: 58,946,260 (GRCm39)	E45G	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTTTGGGGCTGACAACACC -3'
(R):5'- GAACTCAGTAGTGGGTACGAC -3'

Sequencing Primer
(F):5'- TGGGGCTGACAACACCATTCC -3'
(R):5'- CTCCTGTGTCAATGGTGGTTAAGAAG -3'

Posted On

2017-10-10