Mutagenetix > Incidental Mutation

Incidental Mutation 'R6051:Crisp1'

484117

Institutional Source

Beutler Lab

Gene Symbol

Crisp1

Ensembl Gene

ENSMUSG00000025431

Gene Name

cysteine-rich secretory protein 1

Synonyms

Aeg1, CRISP-1

MMRRC Submission

044219-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6051 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40604649-40630098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40616017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 120 (Y120C)

Ref Sequence

ENSEMBL: ENSMUSP00000026498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026498]

AlphaFold

Q03401

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026498
AA Change: Y120C

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026498
Gene: ENSMUSG00000025431
AA Change: Y120C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SCP	37	178	1.89e-55	SMART
Pfam:Crisp	190	244	4.4e-22	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit reduced ability of sperm to fertilize eggs but no reduction in fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,231,304 (GRCm39)	A1021S	possibly damaging	Het
Abl2	A	G	1: 156,469,655 (GRCm39)	D869G	probably damaging	Het
Adamts9	G	A	6: 92,836,907 (GRCm39)	A615V	possibly damaging	Het
Adamts9	A	G	6: 92,867,099 (GRCm39)	Y96H	probably damaging	Het
Arhgef37	A	G	18: 61,640,345 (GRCm39)	I238T	probably damaging	Het
Atr	T	A	9: 95,790,422 (GRCm39)	H1587Q	possibly damaging	Het
BB014433	T	C	8: 15,092,179 (GRCm39)	T225A	possibly damaging	Het
Bcas2	T	C	3: 103,081,657 (GRCm39)	Y87H	possibly damaging	Het
Brca1	C	T	11: 101,415,072 (GRCm39)	E160K	probably damaging	Het
Cd2ap	T	C	17: 43,107,219 (GRCm39)	*638W	probably null	Het
Chd2	A	T	7: 73,085,590 (GRCm39)	D1681E	probably benign	Het
Cit	C	T	5: 115,984,464 (GRCm39)	P12L	probably benign	Het
Cracdl	G	T	1: 37,663,306 (GRCm39)	P864Q	probably damaging	Het
Cyp2c65	A	G	19: 39,049,610 (GRCm39)	D46G	probably benign	Het
Cyp2d34	A	T	15: 82,500,971 (GRCm39)	V387D	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,062 (GRCm39)	H194R	probably benign	Het
Egfr	C	A	11: 16,833,607 (GRCm39)	T625N	possibly damaging	Het
Fat3	A	G	9: 16,286,751 (GRCm39)	V924A	possibly damaging	Het
Fgd6	T	C	10: 93,973,427 (GRCm39)		probably null	Het
Galnt6	A	T	15: 100,592,549 (GRCm39)	C553S	probably damaging	Het
Gm5617	T	C	9: 48,407,187 (GRCm39)	L107P	possibly damaging	Het
Hectd1	G	T	12: 51,800,887 (GRCm39)	T2035N	probably benign	Het
Hp1bp3	A	G	4: 137,961,615 (GRCm39)	T154A	possibly damaging	Het
Il10rb	A	G	16: 91,218,752 (GRCm39)	T262A	probably benign	Het
Kansl1l	A	T	1: 66,765,885 (GRCm39)	N704K	probably null	Het
Kbtbd12	T	C	6: 88,594,930 (GRCm39)	D300G	possibly damaging	Het
Lama4	G	A	10: 38,943,898 (GRCm39)	A734T	probably benign	Het
Mllt6	G	T	11: 97,571,569 (GRCm39)	G1069*	probably null	Het
Mns1	T	C	9: 72,356,735 (GRCm39)	L302P	probably damaging	Het
Muc5ac	T	A	7: 141,365,594 (GRCm39)	C2039S	possibly damaging	Het
Myof	A	G	19: 38,012,809 (GRCm39)	L42P	probably damaging	Het
Ncoa3	T	C	2: 165,900,685 (GRCm39)	L868S	probably damaging	Het
Ndc80	C	T	17: 71,824,573 (GRCm39)	G212E	probably benign	Het
Ntn4	A	G	10: 93,581,657 (GRCm39)	H610R	probably benign	Het
Nufip2	T	A	11: 77,582,742 (GRCm39)	Y219N	probably damaging	Het
Or51m1	T	C	7: 103,578,084 (GRCm39)	F18S	probably damaging	Het
Pbxip1	T	C	3: 89,350,477 (GRCm39)	S41P	probably benign	Het
Phactr2	A	T	10: 13,137,555 (GRCm39)	C196S	probably null	Het
Ppp3ca	T	A	3: 136,581,883 (GRCm39)	Y140N	probably damaging	Het
Ptprb	C	A	10: 116,176,995 (GRCm39)	Y1260*	probably null	Het
Rap1a	C	T	3: 105,657,613 (GRCm39)	R2H	possibly damaging	Het
Rbbp8	G	A	18: 11,871,664 (GRCm39)	V794I	probably benign	Het
Rbks	T	C	5: 31,809,163 (GRCm39)	N200S	probably damaging	Het
Relch	G	T	1: 105,648,997 (GRCm39)	G712V	probably damaging	Het
Rnf186	G	T	4: 138,695,277 (GRCm39)	K272N	probably damaging	Het
Rtl1	G	A	12: 109,559,458 (GRCm39)	P794S	probably damaging	Het
Tbc1d30	T	A	10: 121,132,750 (GRCm39)	I205F	probably damaging	Het
Tkt	C	T	14: 30,290,153 (GRCm39)	P261S	probably benign	Het
Trp53	G	A	11: 69,480,434 (GRCm39)	R267H	possibly damaging	Het
Ttc14	T	C	3: 33,863,073 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,737,805 (GRCm39)	S4245P	probably benign	Het
Vmn1r75	A	T	7: 11,614,978 (GRCm39)	I237F	probably damaging	Het
Vmn2r57	T	A	7: 41,097,896 (GRCm39)	H57L	probably benign	Het
Wdr62	T	C	7: 29,960,809 (GRCm39)	N40S	possibly damaging	Het
Xcr1	A	T	9: 123,685,181 (GRCm39)	F194I	probably benign	Het
Zmiz1	T	A	14: 25,572,494 (GRCm39)	M1K	probably null	Het

Other mutations in Crisp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02794:Crisp1	APN	17	40,623,957 (GRCm39)	missense	unknown
IGL03034:Crisp1	APN	17	40,618,619 (GRCm39)	missense	probably benign	0.11
R0670:Crisp1	UTSW	17	40,616,001 (GRCm39)	nonsense	probably null
R1672:Crisp1	UTSW	17	40,619,760 (GRCm39)	missense	possibly damaging	0.93
R2264:Crisp1	UTSW	17	40,623,965 (GRCm39)	start codon destroyed	probably null
R2904:Crisp1	UTSW	17	40,623,895 (GRCm39)	critical splice donor site	probably null
R4672:Crisp1	UTSW	17	40,605,404 (GRCm39)	critical splice acceptor site	probably null
R5079:Crisp1	UTSW	17	40,619,867 (GRCm39)	splice site	probably null
R5832:Crisp1	UTSW	17	40,612,208 (GRCm39)	splice site	probably null
R7318:Crisp1	UTSW	17	40,618,668 (GRCm39)	missense	possibly damaging	0.91
R7354:Crisp1	UTSW	17	40,630,071 (GRCm39)	start gained	probably benign
R7897:Crisp1	UTSW	17	40,618,656 (GRCm39)	missense	probably benign	0.06
R8830:Crisp1	UTSW	17	40,605,310 (GRCm39)	nonsense	probably null
R9010:Crisp1	UTSW	17	40,616,101 (GRCm39)	splice site	probably benign
R9800:Crisp1	UTSW	17	40,616,071 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AATCAGCTGTCAGGGGTTCTG -3'
(R):5'- CAGGAATTCTGCTTTGTATAGCCCC -3'

Sequencing Primer
(F):5'- GACAACTTTGGGAAGATTGTTCTC -3'
(R):5'- CCCCTCTCTATCTCCCACAC -3'

Posted On

2017-07-14