Mutagenetix > Incidental Mutation

Incidental Mutation 'R0670:Crisp1'

61410

Institutional Source

Beutler Lab

Gene Symbol

Crisp1

Ensembl Gene

ENSMUSG00000025431

Gene Name

cysteine-rich secretory protein 1

Synonyms

Aeg1, CRISP-1

MMRRC Submission

038855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0670 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

40604649-40630098 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 40616001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 125 (Y125*)

Ref Sequence

ENSEMBL: ENSMUSP00000026498 (fasta)

Gene Model

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

AlphaFold

Q03401

Predicted Effect

probably null
Transcript: ENSMUST00000026498
AA Change: Y125*

SMART Domains

Protein: ENSMUSP00000026498
Gene: ENSMUSG00000025431
AA Change: Y125*

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.7%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Abraxas2	A	T	7: 132,470,760 (GRCm39)		probably null	Het
Afap1l2	G	A	19: 56,904,235 (GRCm39)	T684I	probably damaging	Het
Ahcyl1	A	T	3: 107,578,481 (GRCm39)	V205E	probably damaging	Het
Ap4e1	T	A	2: 126,853,784 (GRCm39)		probably null	Het
Brms1	C	A	19: 5,095,999 (GRCm39)	N24K	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Col25a1	A	G	3: 130,180,544 (GRCm39)	K130E	possibly damaging	Het
Dnhd1	A	T	7: 105,345,671 (GRCm39)	D2272V	possibly damaging	Het
Elmod1	A	G	9: 53,820,106 (GRCm39)	V294A	probably damaging	Het
Gmfg	T	A	7: 28,140,953 (GRCm39)	I33K	probably damaging	Het
Gsk3b	G	T	16: 37,964,678 (GRCm39)	D49Y	probably damaging	Het
H2-T5	G	C	17: 36,478,990 (GRCm39)	F86L	possibly damaging	Het
Harbi1	C	T	2: 91,542,880 (GRCm39)	R114W	probably damaging	Het
Hspbp1	A	G	7: 4,680,735 (GRCm39)	V247A	probably damaging	Het
Kif17	A	T	4: 137,989,810 (GRCm39)		probably benign	Het
Klhl6	T	A	16: 19,768,309 (GRCm39)	H412L	possibly damaging	Het
Muc1	A	G	3: 89,137,839 (GRCm39)	D227G	probably benign	Het
Nat8f5	A	T	6: 85,794,957 (GRCm39)	M1K	probably null	Het
Neb	A	G	2: 52,146,136 (GRCm39)	V2947A	possibly damaging	Het
Nfrkb	A	T	9: 31,331,469 (GRCm39)	Q1295L	probably benign	Het
Otop1	T	C	5: 38,445,292 (GRCm39)	V150A	possibly damaging	Het
Pcdhb2	A	T	18: 37,429,701 (GRCm39)	D558V	probably damaging	Het
Pdilt	T	C	7: 119,099,651 (GRCm39)	K206E	probably benign	Het
Pkn2	A	T	3: 142,545,104 (GRCm39)	I23K	probably damaging	Het
Plec	A	T	15: 76,090,160 (GRCm39)	L60Q	probably damaging	Het
Ranbp2	C	A	10: 58,316,520 (GRCm39)	D2413E	probably benign	Het
Socs1	A	G	16: 10,602,126 (GRCm39)	Y204H	probably damaging	Het
Stk39	T	C	2: 68,196,526 (GRCm39)	D301G	possibly damaging	Het
Tlr5	T	A	1: 182,801,454 (GRCm39)	W253R	probably damaging	Het
Treml2	A	G	17: 48,614,864 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,579,448 (GRCm39)	L22069P	probably damaging	Het
Vps13c	G	T	9: 67,833,139 (GRCm39)	S1614I	probably benign	Het
Vrk2	C	T	11: 26,436,959 (GRCm39)		probably null	Het
Xrn1	A	G	9: 95,873,109 (GRCm39)	Y655C	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTCAGGGGTTCTGAAAGACAAC -3'
(R):5'- ACACATACCCACACAGGTGTGCTG -3'

Sequencing Primer
(F):5'- AGACAACTTTGGGAAGATTGTTC -3'
(R):5'- ACGCTGTTCAGTCCACAAATTG -3'

Posted On

2013-07-30