Incidental Mutation 'IGL00469:Crip1'
ID332169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crip1
Ensembl Gene ENSMUSG00000006360
Gene Namecysteine-rich protein 1 (intestinal)
SynonymsCRP1, Crip
Accession Numbers

Ncbi RefSeq: NM_007763.3; MGI:88501

Is this an essential gene? Possibly non essential (E-score: 0.350) question?
Stock #IGL00469
Quality Score
Status
Chromosome12
Chromosomal Location113146316-113153879 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 113152135 bp
ZygosityHeterozygous
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] [ENSMUST00000199089] [ENSMUST00000200522] [ENSMUST00000200553]
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

DomainStartEndE-ValueType
LIM 3 55 2e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049271
SMART Domains Protein: ENSMUSP00000035351
Gene: ENSMUSG00000037466

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 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

DomainStartEndE-ValueType
LIM 54 106 9.5e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199382
Predicted Effect probably benign
Transcript: ENSMUST00000200522
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

DomainStartEndE-ValueType
LIM 3 55 2e-14 SMART
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430105I19Rik T C 2: 118,759,689 S225G possibly damaging Het
Cacna2d4 A G 6: 119,268,278 I316V probably damaging Het
Ccnb1ip1 G A 14: 50,792,099 R169C probably damaging Het
Cstf2 T A X: 134,074,156 H354Q probably damaging Het
Dchs1 A T 7: 105,755,261 D2691E probably damaging Het
Dock2 T C 11: 34,229,603 probably benign Het
Fam199x T C X: 137,072,111 I222T probably damaging Het
Flt1 A T 5: 147,603,605 L758Q probably damaging Het
Fxr2 T G 11: 69,642,139 L181R possibly damaging Het
Gm4450 T A 3: 98,456,400 Q43L probably benign Het
Gpr158 G T 2: 21,746,795 probably benign Het
Lancl2 T C 6: 57,734,026 W390R probably damaging Het
Pet2 C A X: 89,406,338 V62F possibly damaging Het
Pola1 C T X: 93,594,785 V459I possibly damaging Het
Pola1 T C X: 93,561,385 T981A probably damaging Het
Prss44 T C 9: 110,815,489 S222P probably benign Het
Sec16a T C 2: 26,428,300 N1593S probably damaging Het
Slco2b1 A G 7: 99,660,111 I671T probably benign Het
Tm9sf4 T C 2: 153,202,355 I509T probably damaging Het
Trpc6 A G 9: 8,626,701 T351A probably benign Het
Utrn T C 10: 12,406,529 Q768R probably damaging Het
Zfp984 C T 4: 147,754,886 G503S probably benign Het
Other mutations in Crip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Crip1 APN 12 113153612 splice site probably null
IGL00563:Crip1 APN 12 113153612 splice site probably null
R0030:Crip1 UTSW 12 113153376 critical splice donor site probably null
R1879:Crip1 UTSW 12 113153332 missense probably damaging 1.00
R4542:Crip1 UTSW 12 113153489 missense probably damaging 1.00
R5918:Crip1 UTSW 12 113153667 splice site probably null
Posted On2015-08-05