Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03034:Crisp1'

408560

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crisp1

Ensembl Gene

ENSMUSG00000025431

Gene Name

cysteine-rich secretory protein 1

Synonyms

Aeg1, CRISP-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03034

Quality Score

Status

Chromosome

Chromosomal Location

40604649-40630098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40618619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 81 (T81A)

Ref Sequence

ENSEMBL: ENSMUSP00000026498 (fasta)

Gene Model

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

AlphaFold

Q03401

Predicted Effect

probably benign
Transcript: ENSMUST00000026498
AA Change: T81A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026498
Gene: ENSMUSG00000025431
AA Change: T81A

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	C	T	11: 81,780,908 (GRCm39)		probably benign	Het
Ablim2	A	G	5: 35,985,509 (GRCm39)	T269A	probably benign	Het
Asgr2	G	T	11: 69,989,089 (GRCm39)	G178W	probably damaging	Het
Chtf18	A	G	17: 25,946,320 (GRCm39)		probably benign	Het
Cnmd	C	T	14: 79,879,368 (GRCm39)	A257T	probably benign	Het
Cox7a1	A	G	7: 29,884,693 (GRCm39)		probably benign	Het
Cpox	C	T	16: 58,495,718 (GRCm39)	T345M	probably damaging	Het
Dcc	T	A	18: 71,708,214 (GRCm39)	R501*	probably null	Het
Dlx6	A	C	6: 6,863,807 (GRCm39)	Q143P	probably benign	Het
Dpp10	T	A	1: 123,269,348 (GRCm39)	Y687F	probably damaging	Het
Eif2b1	A	G	5: 124,709,894 (GRCm39)	V228A	probably benign	Het
Enpep	T	C	3: 129,092,599 (GRCm39)	D528G	probably damaging	Het
Fbxo6	G	A	4: 148,230,579 (GRCm39)	Q228*	probably null	Het
Iars1	T	A	13: 49,843,965 (GRCm39)	N146K	possibly damaging	Het
Kctd9	T	A	14: 67,971,728 (GRCm39)	S268T	probably benign	Het
Kifap3	G	A	1: 163,715,846 (GRCm39)	V749M	probably benign	Het
Mdm4	T	C	1: 132,938,809 (GRCm39)	D94G	probably damaging	Het
Mllt10	T	G	2: 18,069,847 (GRCm39)	M1R	probably null	Het
Mtcl1	T	C	17: 66,651,193 (GRCm39)	Y1424C	probably damaging	Het
Mybpc2	A	T	7: 44,161,321 (GRCm39)	I549N	possibly damaging	Het
Myocd	T	C	11: 65,109,511 (GRCm39)	T87A	probably benign	Het
Nr3c2	T	G	8: 77,914,267 (GRCm39)	Y824*	probably null	Het
Omg	T	A	11: 79,392,947 (GRCm39)	T304S	possibly damaging	Het
Or4b1	A	G	2: 89,980,177 (GRCm39)	Y58H	probably damaging	Het
Or52p2	G	A	7: 102,237,147 (GRCm39)	H268Y	probably benign	Het
Or5an1b	T	C	19: 12,300,018 (GRCm39)	T58A	possibly damaging	Het
Or5b97	T	C	19: 12,879,121 (GRCm39)	T8A	possibly damaging	Het
Or6c2	A	T	10: 129,362,527 (GRCm39)	I144F	probably benign	Het
Pde3a	G	A	6: 141,438,126 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,469,252 (GRCm39)	K129E	probably damaging	Het
Phka2	G	T	X: 159,360,546 (GRCm39)	E858*	probably null	Het
Pp2d1	T	C	17: 53,815,081 (GRCm39)	T548A	possibly damaging	Het
Prr14l	G	A	5: 32,984,782 (GRCm39)	A1571V	possibly damaging	Het
Rbms3	A	G	9: 117,080,879 (GRCm39)		probably benign	Het
Sparcl1	T	C	5: 104,241,103 (GRCm39)	E107G	probably damaging	Het
Stra6l	A	G	4: 45,885,392 (GRCm39)	D620G	probably benign	Het
Traf3ip2	A	T	10: 39,502,215 (GRCm39)	K121I	probably damaging	Het
Ttc34	T	C	4: 154,945,640 (GRCm39)	S734P	probably damaging	Het
Zfp953	C	T	13: 67,491,526 (GRCm39)	C142Y	probably damaging	Het
Zfp955b	T	A	17: 33,521,142 (GRCm39)	C204S	probably benign	Het

Other mutations in Crisp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02794:Crisp1	APN	17	40,623,957 (GRCm39)	missense	unknown
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
R6051:Crisp1	UTSW	17	40,616,017 (GRCm39)	missense	possibly damaging	0.59
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

Posted On

2016-08-02