Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Crisp1'

359871

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 #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

40604649-40630098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40623957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 4 (M4K)

Ref Sequence

ENSEMBL: ENSMUSP00000026498 (fasta)

Gene Model

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

AlphaFold

Q03401

Predicted Effect

unknown
Transcript: ENSMUST00000026498
AA Change: M4K

SMART Domains

Protein: ENSMUSP00000026498
Gene: ENSMUSG00000025431
AA Change: M4K

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,621,385 (GRCm39)	C1082S	probably benign	Het
Akt2	G	T	7: 27,328,806 (GRCm39)	R176L	probably benign	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Apeh	A	G	9: 107,969,209 (GRCm39)	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,071,653 (GRCm39)	M481V	probably benign	Het
Atraid	G	A	5: 31,210,214 (GRCm39)	S135N	probably damaging	Het
Camta2	C	T	11: 70,566,484 (GRCm39)	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,319,614 (GRCm39)	N545S	probably benign	Het
Cic	A	G	7: 24,985,069 (GRCm39)	D1105G	probably damaging	Het
Crnkl1	C	T	2: 145,772,532 (GRCm39)	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,847,847 (GRCm39)	C114S	probably benign	Het
Dsc2	A	T	18: 20,174,788 (GRCm39)	Y496N	probably damaging	Het
Dst	T	C	1: 34,309,910 (GRCm39)	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,994,752 (GRCm39)	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928 (GRCm39)	N767S	probably benign	Het
Gm1527	A	G	3: 28,949,829 (GRCm39)	T30A	unknown	Het
Gorasp2	C	A	2: 70,509,838 (GRCm39)	Y166*	probably null	Het
Gucy2c	T	A	6: 136,690,146 (GRCm39)	Q744L	probably damaging	Het
Heg1	A	T	16: 33,546,992 (GRCm39)	N593I	probably damaging	Het
Ice1	T	A	13: 70,757,278 (GRCm39)	S236C	possibly damaging	Het
Il12b	T	C	11: 44,298,808 (GRCm39)	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,035,200 (GRCm39)	V6I	probably benign	Het
Kcna6	A	G	6: 126,715,515 (GRCm39)	V458A	probably damaging	Het
Kif13b	G	A	14: 65,040,889 (GRCm39)	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,619,789 (GRCm39)	D116G	possibly damaging	Het
Lama2	T	C	10: 26,917,227 (GRCm39)	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,479,444 (GRCm39)	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,838,709 (GRCm39)	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,750,177 (GRCm39)	S105T	probably damaging	Het
Mga	T	A	2: 119,776,770 (GRCm39)	I1768N	possibly damaging	Het
Mical3	C	A	6: 120,984,270 (GRCm39)	G202V	probably damaging	Het
Mylk	A	T	16: 34,806,911 (GRCm39)	I1719F	probably benign	Het
Nusap1	T	A	2: 119,460,867 (GRCm39)	F120Y	possibly damaging	Het
Or52e8	T	A	7: 104,624,596 (GRCm39)	M203L	probably benign	Het
Or8b56	T	A	9: 38,739,511 (GRCm39)	C175S	probably damaging	Het
Or8k32	T	C	2: 86,368,492 (GRCm39)	T256A	possibly damaging	Het
Pidd1	T	C	7: 141,023,021 (GRCm39)	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,739,028 (GRCm39)	M671L	probably benign	Het
Ppp5c	A	G	7: 16,740,885 (GRCm39)	V361A	probably benign	Het
Prune2	T	C	19: 17,096,725 (GRCm39)	V743A	probably benign	Het
Siglec1	C	A	2: 130,917,889 (GRCm39)	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,957,206 (GRCm39)	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,948,668 (GRCm39)	Y537*	probably null	Het
Smarca4	T	A	9: 21,584,638 (GRCm39)		probably benign	Het
Smg6	C	T	11: 74,944,760 (GRCm39)	P1109S	probably damaging	Het
Sorl1	T	A	9: 41,975,070 (GRCm39)	N513Y	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,603,704 (GRCm39)	C17R	probably damaging	Het
Ttc3	T	C	16: 94,268,785 (GRCm39)	C1956R	probably damaging	Het
Vmn1r211	G	T	13: 23,036,379 (GRCm39)	T96N	possibly damaging	Het
Vmn1r211	C	A	13: 23,036,376 (GRCm39)	S97I	probably damaging	Het
Vmn1r211	T	A	13: 23,036,377 (GRCm39)	S97C	probably damaging	Het
Vmn2r66	A	T	7: 84,644,623 (GRCm39)	S596T	probably benign	Het
Zfp609	A	G	9: 65,611,602 (GRCm39)	S454P	possibly damaging	Het

Other mutations in Crisp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-12-18