Incidental Mutation 'IGL00974:Crisp4'
ID 26754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crisp4
Ensembl Gene ENSMUSG00000025774
Gene Name cysteine-rich secretory protein 4
Synonyms 9230112K08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00974
Quality Score
Status
Chromosome 1
Chromosomal Location 18185415-18216126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18198871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 188 (T188A)
Ref Sequence ENSEMBL: ENSMUSP00000111001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026876] [ENSMUST00000115340] [ENSMUST00000115344]
AlphaFold E9PVG4
Predicted Effect probably damaging
Transcript: ENSMUST00000026876
AA Change: T149A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026876
Gene: ENSMUSG00000025774
AA Change: T149A

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
SCP 44 188 1.32e-45 SMART
Pfam:Crisp 200 254 4.8e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115340
AA Change: T145A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110997
Gene: ENSMUSG00000025774
AA Change: T145A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SCP 40 184 1.32e-45 SMART
Pfam:Crisp 196 250 6.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115344
AA Change: T188A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111001
Gene: ENSMUSG00000025774
AA Change: T188A

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
SCP 83 227 1.32e-45 SMART
Pfam:Crisp 239 293 1.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130669
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a null mutation display an impaired acrosome reaction in response to progesterone but are fertile with normal testis morphology and weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brwd1 T A 16: 95,844,226 (GRCm39) K776M probably damaging Het
E130311K13Rik T A 3: 63,827,784 (GRCm39) probably null Het
Fyb1 A G 15: 6,672,066 (GRCm39) probably benign Het
Gcn1 G A 5: 115,751,852 (GRCm39) V2076M possibly damaging Het
Grik5 A T 7: 24,713,310 (GRCm39) I766N probably damaging Het
Grk3 A G 5: 113,133,685 (GRCm39) Y46H probably damaging Het
Gtf2a1l A G 17: 89,022,377 (GRCm39) D456G probably damaging Het
Kcna10 A G 3: 107,102,647 (GRCm39) D426G probably damaging Het
Luzp2 A T 7: 54,724,774 (GRCm39) I112F probably damaging Het
Med12l G T 3: 58,990,435 (GRCm39) R519M probably damaging Het
Mrpl39 G A 16: 84,520,740 (GRCm39) P300S probably damaging Het
Polr3a A T 14: 24,529,492 (GRCm39) I328N probably benign Het
Slc22a8 A G 19: 8,587,290 (GRCm39) N450S probably damaging Het
Slc38a4 T C 15: 96,897,397 (GRCm39) T473A probably benign Het
Slc4a7 C T 14: 14,760,292 (GRCm38) P576S probably benign Het
Tecta A G 9: 42,242,670 (GRCm39) I2057T probably benign Het
Tnks1bp1 C T 2: 84,893,226 (GRCm39) T389I possibly damaging Het
Tnxb T C 17: 34,937,707 (GRCm39) probably null Het
Tsc22d1 A G 14: 76,743,882 (GRCm39) Y10C probably damaging Het
Vmn1r34 T C 6: 66,614,639 (GRCm39) H33R possibly damaging Het
Vmn2r102 G T 17: 19,897,771 (GRCm39) W262L possibly damaging Het
Other mutations in Crisp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Crisp4 APN 1 18,207,231 (GRCm39) missense probably benign 0.41
IGL01641:Crisp4 APN 1 18,194,514 (GRCm39) missense possibly damaging 0.91
IGL01670:Crisp4 APN 1 18,198,901 (GRCm39) missense probably benign 0.03
IGL01985:Crisp4 APN 1 18,204,289 (GRCm39) missense probably damaging 1.00
IGL02043:Crisp4 APN 1 18,204,324 (GRCm39) missense probably damaging 1.00
R1241:Crisp4 UTSW 1 18,193,018 (GRCm39) missense probably damaging 1.00
R1978:Crisp4 UTSW 1 18,198,889 (GRCm39) missense probably benign 0.04
R5269:Crisp4 UTSW 1 18,198,934 (GRCm39) missense probably damaging 1.00
R5736:Crisp4 UTSW 1 18,185,939 (GRCm39) missense probably benign 0.03
R6154:Crisp4 UTSW 1 18,193,012 (GRCm39) missense possibly damaging 0.80
R6999:Crisp4 UTSW 1 18,207,259 (GRCm39) missense possibly damaging 0.56
R7255:Crisp4 UTSW 1 18,200,455 (GRCm39) missense probably damaging 0.99
R7446:Crisp4 UTSW 1 18,192,962 (GRCm39) missense probably damaging 1.00
R7800:Crisp4 UTSW 1 18,198,973 (GRCm39) missense probably benign 0.02
R7831:Crisp4 UTSW 1 18,199,013 (GRCm39) missense probably benign 0.29
R7881:Crisp4 UTSW 1 18,198,893 (GRCm39) missense probably benign 0.07
R8053:Crisp4 UTSW 1 18,194,498 (GRCm39) missense probably benign 0.19
R8881:Crisp4 UTSW 1 18,185,902 (GRCm39) missense probably damaging 0.96
R8885:Crisp4 UTSW 1 18,207,148 (GRCm39) intron probably benign
R9188:Crisp4 UTSW 1 18,192,990 (GRCm39) nonsense probably null
Posted On 2013-04-17