Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00469:Crip1'

332169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crip1

Ensembl Gene

ENSMUSG00000006360

Gene Name

cysteine-rich protein 1

Synonyms

CRP1, Crip

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

IGL00469

Quality Score

Status

Chromosome

Chromosomal Location

113115632-113117499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113115755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 59 (D59Y)

Ref Sequence

ENSEMBL: ENSMUSP00000142803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006523] [ENSMUST00000049271] [ENSMUST00000196755] [ENSMUST00000200553] [ENSMUST00000199089] [ENSMUST00000200522]

AlphaFold

P63254

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006523
AA Change: D8Y

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006523
Gene: ENSMUSG00000006360
AA Change: D8Y

Domain	Start	End	E-Value	Type
LIM	3	55	2e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000049271

SMART Domains

Protein: ENSMUSP00000035351
Gene: ENSMUSG00000037466

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:DUF4509	41	221	4.8e-65	PFAM
low complexity region	233	245	N/A	INTRINSIC
Pfam:DUF4510	258	418	3.1e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196505

Predicted Effect

probably benign
Transcript: ENSMUST00000196755

SMART Domains

Protein: ENSMUSP00000143431
Gene: ENSMUSG00000037466

Domain	Start	End	E-Value	Type
low complexity region	1	20	N/A	INTRINSIC
Pfam:DUF4509	40	138	4.1e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198909

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200553
AA Change: D8Y

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143680
Gene: ENSMUSG00000006360
AA Change: D8Y

Domain	Start	End	E-Value	Type
LIM	3	55	2e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000199089
AA Change: D59Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142803
Gene: ENSMUSG00000006360
AA Change: D59Y

Domain	Start	End	E-Value	Type
LIM	54	106	9.5e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199382

Predicted Effect

probably benign
Transcript: ENSMUST00000200522

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008]

Allele List at MGI

All alleles(8) : Targeted(2) Gene trapped(6)

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d4	A	G	6: 119,245,239 (GRCm39)	I316V	probably damaging	Het
Ccdc9b	T	C	2: 118,590,170 (GRCm39)	S225G	possibly damaging	Het
Ccnb1ip1	G	A	14: 51,029,556 (GRCm39)	R169C	probably damaging	Het
Cstf2	T	A	X: 132,974,905 (GRCm39)	H354Q	probably damaging	Het
Dcaf8l	C	A	X: 88,449,944 (GRCm39)	V62F	possibly damaging	Het
Dchs1	A	T	7: 105,404,468 (GRCm39)	D2691E	probably damaging	Het
Dock2	T	C	11: 34,179,603 (GRCm39)		probably benign	Het
Fam199x	T	C	X: 135,972,860 (GRCm39)	I222T	probably damaging	Het
Flt1	A	T	5: 147,540,415 (GRCm39)	L758Q	probably damaging	Het
Fxr2	T	G	11: 69,532,965 (GRCm39)	L181R	possibly damaging	Het
Gpr158	G	T	2: 21,751,606 (GRCm39)		probably benign	Het
Hsd3b9	T	A	3: 98,363,716 (GRCm39)	Q43L	probably benign	Het
Lancl2	T	C	6: 57,711,011 (GRCm39)	W390R	probably damaging	Het
Pola1	C	T	X: 92,638,391 (GRCm39)	V459I	possibly damaging	Het
Pola1	T	C	X: 92,604,991 (GRCm39)	T981A	probably damaging	Het
Prss44	T	C	9: 110,644,557 (GRCm39)	S222P	probably benign	Het
Sec16a	T	C	2: 26,318,312 (GRCm39)	N1593S	probably damaging	Het
Slco2b1	A	G	7: 99,309,318 (GRCm39)	I671T	probably benign	Het
Tm9sf4	T	C	2: 153,044,275 (GRCm39)	I509T	probably damaging	Het
Trpc6	A	G	9: 8,626,702 (GRCm39)	T351A	probably benign	Het
Utrn	T	C	10: 12,282,273 (GRCm39)	Q768R	probably damaging	Het
Zfp984	C	T	4: 147,839,343 (GRCm39)	G503S	probably benign	Het

Other mutations in Crip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Crip1	APN	12	113,117,232 (GRCm39)	splice site	probably null
IGL00563:Crip1	APN	12	113,117,232 (GRCm39)	splice site	probably null
R0030:Crip1	UTSW	12	113,116,996 (GRCm39)	critical splice donor site	probably null
R1879:Crip1	UTSW	12	113,116,952 (GRCm39)	missense	probably damaging	1.00
R4542:Crip1	UTSW	12	113,117,109 (GRCm39)	missense	probably damaging	1.00
R5918:Crip1	UTSW	12	113,117,287 (GRCm39)	splice site	probably null

Posted On

2015-08-05