Incidental Mutation 'IGL01140:Cuzd1'
ID 51649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cuzd1
Ensembl Gene ENSMUSG00000040205
Gene Name CUB and zona pellucida-like domains 1
Synonyms ERG-1, UTCZP, UO-44, Itmap1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01140
Quality Score
Status
Chromosome 7
Chromosomal Location 130910283-130924021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130913523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 365 (C365S)
Ref Sequence ENSEMBL: ENSMUSP00000037168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046611] [ENSMUST00000124096]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046611
AA Change: C365S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205
AA Change: C365S

DomainStartEndE-ValueType
CUB 32 146 1.78e-16 SMART
CUB 154 265 1.1e-44 SMART
ZP 276 519 1.39e-63 SMART
transmembrane domain 571 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Female mice homozygous for disruption of this gene exhibit impaired mammary gland development during puberty and during and following pregnancy and do not lactate. Homozygous mutant mice show an increased susceptibility to induced pancreatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,672,726 (GRCm39) E187G probably damaging Het
Asap2 T C 12: 21,256,317 (GRCm39) V205A probably damaging Het
Atg16l1 A G 1: 87,702,575 (GRCm39) I279V probably benign Het
Atp2b2 C T 6: 113,766,932 (GRCm39) V436I possibly damaging Het
Cald1 T A 6: 34,739,196 (GRCm39) S640T possibly damaging Het
Cdc23 A G 18: 34,769,385 (GRCm39) Y460H probably benign Het
Cenpk T A 13: 104,372,742 (GRCm39) probably benign Het
Ctss A G 3: 95,446,036 (GRCm39) E52G probably damaging Het
Cyp2c55 T C 19: 39,007,093 (GRCm39) L163P probably benign Het
Cyp4f37 T C 17: 32,848,027 (GRCm39) S182P probably benign Het
Flt4 G T 11: 49,525,770 (GRCm39) E740* probably null Het
Galntl6 T A 8: 58,411,356 (GRCm39) R291S probably damaging Het
Hydin G A 8: 111,124,694 (GRCm39) V568I probably benign Het
Ift70a1 A G 2: 75,810,259 (GRCm39) V608A probably benign Het
Kcnab3 A G 11: 69,220,705 (GRCm39) K145R probably benign Het
Lama1 T C 17: 68,109,928 (GRCm39) V2183A probably benign Het
Lrmda C T 14: 22,646,585 (GRCm39) A75V possibly damaging Het
Mbtd1 A G 11: 93,815,258 (GRCm39) E282G probably damaging Het
Muc19 A T 15: 91,783,593 (GRCm39) noncoding transcript Het
Mug1 A G 6: 121,859,693 (GRCm39) T1231A probably benign Het
Nkpd1 A G 7: 19,257,387 (GRCm39) T389A possibly damaging Het
Nudt19 A G 7: 35,247,336 (GRCm39) *358Q probably null Het
Nup160 G T 2: 90,530,909 (GRCm39) M522I possibly damaging Het
Obsl1 T A 1: 75,466,400 (GRCm39) probably benign Het
Or4m1 T A 14: 50,557,732 (GRCm39) I187F probably damaging Het
Or5ak24 T C 2: 85,260,484 (GRCm39) T230A probably benign Het
Or5b119 G A 19: 13,457,151 (GRCm39) T137I possibly damaging Het
Osbpl10 C T 9: 115,005,070 (GRCm39) P341S probably benign Het
Papola C A 12: 105,775,856 (GRCm39) C7* probably null Het
Pld1 C A 3: 28,132,386 (GRCm39) L525I probably benign Het
Prom2 T C 2: 127,373,125 (GRCm39) probably benign Het
Psmb5 G A 14: 54,855,264 (GRCm39) T62I possibly damaging Het
Sag A G 1: 87,751,086 (GRCm39) E184G probably benign Het
Slc16a10 T C 10: 39,952,921 (GRCm39) Y191C probably damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Ssx2ip A G 3: 146,133,598 (GRCm39) Y231C probably benign Het
Trib1 A G 15: 59,523,476 (GRCm39) Y170C probably damaging Het
Trmt10a G A 3: 137,862,459 (GRCm39) probably benign Het
Troap G T 15: 98,980,027 (GRCm39) Q402H probably damaging Het
Vmn2r70 G A 7: 85,214,379 (GRCm39) Q258* probably null Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zmym1 A G 4: 126,943,435 (GRCm39) F318L probably damaging Het
Zswim2 A G 2: 83,745,672 (GRCm39) S589P probably benign Het
Other mutations in Cuzd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Cuzd1 APN 7 130,917,865 (GRCm39) missense probably damaging 0.99
IGL01773:Cuzd1 APN 7 130,916,614 (GRCm39) missense probably damaging 1.00
IGL02960:Cuzd1 APN 7 130,921,832 (GRCm39) missense probably benign 0.01
PIT4504001:Cuzd1 UTSW 7 130,911,529 (GRCm39) missense possibly damaging 0.88
R0233:Cuzd1 UTSW 7 130,913,545 (GRCm39) missense possibly damaging 0.61
R0233:Cuzd1 UTSW 7 130,913,545 (GRCm39) missense possibly damaging 0.61
R0363:Cuzd1 UTSW 7 130,917,991 (GRCm39) missense probably benign 0.16
R0375:Cuzd1 UTSW 7 130,913,637 (GRCm39) intron probably benign
R0446:Cuzd1 UTSW 7 130,918,009 (GRCm39) splice site probably null
R0482:Cuzd1 UTSW 7 130,911,601 (GRCm39) unclassified probably benign
R0765:Cuzd1 UTSW 7 130,917,824 (GRCm39) missense probably benign 0.40
R0932:Cuzd1 UTSW 7 130,921,923 (GRCm39) intron probably benign
R1463:Cuzd1 UTSW 7 130,918,371 (GRCm39) missense probably damaging 1.00
R1533:Cuzd1 UTSW 7 130,913,432 (GRCm39) missense probably damaging 0.99
R1722:Cuzd1 UTSW 7 130,913,373 (GRCm39) missense probably damaging 0.96
R1920:Cuzd1 UTSW 7 130,911,425 (GRCm39) missense probably benign 0.00
R2027:Cuzd1 UTSW 7 130,921,820 (GRCm39) missense possibly damaging 0.93
R2039:Cuzd1 UTSW 7 130,916,643 (GRCm39) intron probably benign
R2039:Cuzd1 UTSW 7 130,911,345 (GRCm39) missense probably benign 0.00
R2857:Cuzd1 UTSW 7 130,917,863 (GRCm39) missense probably damaging 0.97
R2859:Cuzd1 UTSW 7 130,917,863 (GRCm39) missense probably damaging 0.97
R4585:Cuzd1 UTSW 7 130,916,529 (GRCm39) missense probably damaging 1.00
R4586:Cuzd1 UTSW 7 130,916,529 (GRCm39) missense probably damaging 1.00
R4830:Cuzd1 UTSW 7 130,919,783 (GRCm39) missense probably damaging 0.99
R4945:Cuzd1 UTSW 7 130,918,350 (GRCm39) missense probably damaging 1.00
R5009:Cuzd1 UTSW 7 130,913,252 (GRCm39) missense probably damaging 1.00
R5337:Cuzd1 UTSW 7 130,917,803 (GRCm39) missense probably damaging 1.00
R5355:Cuzd1 UTSW 7 130,917,853 (GRCm39) missense probably damaging 1.00
R6543:Cuzd1 UTSW 7 130,911,497 (GRCm39) missense probably damaging 1.00
R6569:Cuzd1 UTSW 7 130,913,486 (GRCm39) missense probably damaging 1.00
R6681:Cuzd1 UTSW 7 130,913,412 (GRCm39) missense probably damaging 1.00
R6818:Cuzd1 UTSW 7 130,918,394 (GRCm39) missense probably damaging 1.00
R6819:Cuzd1 UTSW 7 130,911,460 (GRCm39) missense possibly damaging 0.51
R7031:Cuzd1 UTSW 7 130,910,580 (GRCm39) missense probably benign 0.22
R7524:Cuzd1 UTSW 7 130,913,347 (GRCm39) missense probably damaging 0.97
R8328:Cuzd1 UTSW 7 130,913,345 (GRCm39) missense probably damaging 1.00
R8403:Cuzd1 UTSW 7 130,913,297 (GRCm39) missense probably damaging 1.00
R8425:Cuzd1 UTSW 7 130,919,720 (GRCm39) missense possibly damaging 0.54
R8519:Cuzd1 UTSW 7 130,910,626 (GRCm39) missense possibly damaging 0.47
R8879:Cuzd1 UTSW 7 130,910,577 (GRCm39) missense probably damaging 0.99
R8977:Cuzd1 UTSW 7 130,923,754 (GRCm39) missense probably benign 0.35
R9672:Cuzd1 UTSW 7 130,919,847 (GRCm39) missense possibly damaging 0.78
Posted On 2013-06-21