Incidental Mutation 'R7031:Cuzd1'
ID 546323
Institutional Source Beutler Lab
Gene Symbol Cuzd1
Ensembl Gene ENSMUSG00000040205
Gene Name CUB and zona pellucida-like domains 1
Synonyms ERG-1, UTCZP, UO-44, Itmap1
MMRRC Submission 045132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R7031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 130910283-130924021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130910580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 572 (F572I)
Ref Sequence ENSEMBL: ENSMUSP00000037168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046611] [ENSMUST00000124096] [ENSMUST00000208921]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046611
AA Change: F572I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205
AA Change: F572I

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
Predicted Effect probably benign
Transcript: ENSMUST00000208921
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,058 (GRCm39) N39S probably benign Het
Abca13 C T 11: 9,571,892 (GRCm39) R4818C probably damaging Het
Acadsb A G 7: 131,045,366 (GRCm39) I433V probably benign Het
Acsl3 T A 1: 78,666,000 (GRCm39) I142N probably benign Het
Api5 G A 2: 94,255,961 (GRCm39) T242M probably benign Het
Brme1 C A 8: 84,893,313 (GRCm39) P160Q possibly damaging Het
Ccdc88c T C 12: 100,911,323 (GRCm39) E37G probably damaging Het
Cfap96 T C 8: 46,421,140 (GRCm39) I128V probably benign Het
Cntnap4 C A 8: 113,584,874 (GRCm39) Q1104K probably benign Het
Cry1 A G 10: 84,984,526 (GRCm39) S183P probably benign Het
Dcbld1 A T 10: 52,166,985 (GRCm39) D104V probably damaging Het
Dhh C T 15: 98,791,907 (GRCm39) G367E possibly damaging Het
Dhx15 T C 5: 52,341,931 (GRCm39) D129G probably benign Het
Drd3 T A 16: 43,582,861 (GRCm39) V86E probably damaging Het
Ebf1 A G 11: 44,512,795 (GRCm39) T135A possibly damaging Het
Epha5 T C 5: 84,290,159 (GRCm39) I428V probably benign Het
Epx T A 11: 87,766,349 (GRCm39) probably benign Het
Fam83d T A 2: 158,627,227 (GRCm39) N305K probably benign Het
Gchfr T A 2: 119,000,236 (GRCm39) V39D probably benign Het
Ggnbp2 A G 11: 84,751,467 (GRCm39) L111P probably damaging Het
Gnal G A 18: 67,355,659 (GRCm39) G340D probably damaging Het
Gpat2 A G 2: 127,277,395 (GRCm39) E745G probably damaging Het
Gpbp1l1 C T 4: 116,450,045 (GRCm39) R438C probably damaging Het
Hmgxb4 C T 8: 75,756,200 (GRCm39) Q171* probably null Het
Igkv4-91 G T 6: 68,745,542 (GRCm39) R119S possibly damaging Het
Ing2 T C 8: 48,121,858 (GRCm39) D230G probably benign Het
Itfg2 A G 6: 128,393,017 (GRCm39) V82A probably damaging Het
Klhl22 T C 16: 17,594,890 (GRCm39) S340P probably damaging Het
Lipm A T 19: 34,093,871 (GRCm39) M263L probably benign Het
Ly96 A T 1: 16,758,787 (GRCm39) E19V possibly damaging Het
Mark1 C T 1: 184,644,829 (GRCm39) E376K possibly damaging Het
Mlip T A 9: 77,045,835 (GRCm39) M375L probably benign Het
Mug1 A T 6: 121,815,673 (GRCm39) N26Y probably benign Het
Or2ad1 C T 13: 21,327,170 (GRCm39) S19N probably benign Het
Or55b3 T A 7: 102,127,057 (GRCm39) T7S probably benign Het
Or5m3 C T 2: 85,838,939 (GRCm39) A273V probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rb1cc1 T C 1: 6,308,690 (GRCm39) probably null Het
Rgs4 T C 1: 169,571,336 (GRCm39) T178A probably benign Het
Sel1l2 T A 2: 140,182,043 (GRCm39) K31N possibly damaging Het
Serpinf1 T C 11: 75,301,022 (GRCm39) R398G probably damaging Het
Sgo2b C T 8: 64,393,078 (GRCm39) E120K possibly damaging Het
Stard9 T C 2: 120,530,931 (GRCm39) F2396S possibly damaging Het
Trgv6 G A 13: 19,374,610 (GRCm39) E25K probably benign Het
Trpc3 A C 3: 36,675,459 (GRCm39) I893S probably benign Het
Trpc4ap C A 2: 155,534,135 (GRCm39) R31L unknown Het
Vat1l A G 8: 114,998,172 (GRCm39) R239G possibly damaging Het
Vmn1r56 T A 7: 5,199,261 (GRCm39) R119* probably null Het
Vmn2r111 T C 17: 22,790,226 (GRCm39) Y260C probably damaging Het
Zfp664 A G 5: 124,963,070 (GRCm39) T155A probably benign Het
Other mutations in Cuzd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Cuzd1 APN 7 130,917,865 (GRCm39) missense probably damaging 0.99
IGL01140:Cuzd1 APN 7 130,913,523 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAGGGAGCTGCTTCATCAG -3'
(R):5'- AGGTTAAATGGCCTAAGGTAAAACCC -3'

Sequencing Primer
(F):5'- TGCTTCATCAGGCACCCAG -3'
(R):5'- GGCCTAAGGTAAAACCCAACTATAAC -3'
Posted On 2019-05-13