Mutagenetix > Incidental Mutation

Incidental Mutation 'R0446:Cuzd1'

39379

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

038647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0446 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

130910283-130924021 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 130918009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046611] [ENSMUST00000124096]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000046611

SMART Domains

Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,971,766 (GRCm39)	T42A	probably benign	Het
Actr3b	T	A	5: 26,036,730 (GRCm39)	I181K	probably damaging	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
B3galt4	T	C	17: 34,169,992 (GRCm39)	E82G	probably benign	Het
Bag1	G	A	4: 40,936,609 (GRCm39)	T349I	probably benign	Het
Brip1	A	T	11: 86,048,427 (GRCm39)	L305Q	probably damaging	Het
Cdipt	A	G	7: 126,577,436 (GRCm39)	T61A	probably damaging	Het
Cmya5	T	A	13: 93,230,164 (GRCm39)	R1641S	probably benign	Het
Cog7	T	C	7: 121,536,295 (GRCm39)	D515G	probably benign	Het
Cpsf4	T	A	5: 145,114,054 (GRCm39)	L171Q	probably damaging	Het
Cstpp1	G	A	2: 91,135,109 (GRCm39)	T20I	possibly damaging	Het
Dapk1	T	A	13: 60,873,101 (GRCm39)		probably null	Het
Diaph1	A	G	18: 37,986,643 (GRCm39)	V1114A	possibly damaging	Het
Emx2	A	T	19: 59,452,348 (GRCm39)	K211*	probably null	Het
Fam170a	T	A	18: 50,413,699 (GRCm39)	C55S	possibly damaging	Het
Fbxw26	A	G	9: 109,572,788 (GRCm39)	S119P	probably benign	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Fryl	G	A	5: 73,254,760 (GRCm39)	T894M	possibly damaging	Het
Gad1-ps	C	A	10: 99,281,383 (GRCm39)		noncoding transcript	Het
Gss	T	C	2: 155,409,665 (GRCm39)	E257G	probably benign	Het
Klhdc1	A	C	12: 69,330,082 (GRCm39)	S404R	probably benign	Het
Kmt2e	T	A	5: 23,702,532 (GRCm39)		probably null	Het
Krt20	G	A	11: 99,328,602 (GRCm39)	Q108*	probably null	Het
Lmnb1	T	A	18: 56,876,331 (GRCm39)	S480T	probably benign	Het
Lyst	T	A	13: 13,812,633 (GRCm39)	M1015K	probably benign	Het
Mdm1	T	G	10: 117,987,961 (GRCm39)	S290A	probably benign	Het
Mkln1	T	A	6: 31,426,439 (GRCm39)	F238I	probably damaging	Het
Mrgprb3	A	G	7: 48,292,984 (GRCm39)	V189A	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Neurod6	C	T	6: 55,656,614 (GRCm39)	E8K	probably benign	Het
Nlrp12	T	C	7: 3,282,659 (GRCm39)	I747V	probably benign	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Obscn	A	T	11: 58,886,238 (GRCm39)		probably benign	Het
Or10d3	A	T	9: 39,461,747 (GRCm39)	I140N	probably damaging	Het
Or5p57	A	T	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or5w20	T	C	2: 87,727,199 (GRCm39)	Y219H	possibly damaging	Het
Or6ae1	A	T	7: 139,742,384 (GRCm39)	S160T	probably damaging	Het
Or6z5	T	C	7: 6,478,024 (GRCm39)	V305A	probably benign	Het
Or8b53	G	T	9: 38,667,114 (GRCm39)	L43F	probably damaging	Het
Orc5	C	T	5: 22,751,455 (GRCm39)	V85I	probably benign	Het
Pccb	T	C	9: 100,864,850 (GRCm39)	D468G	probably damaging	Het
Pdzd2	A	T	15: 12,375,110 (GRCm39)	V1675E	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pltp	A	T	2: 164,696,320 (GRCm39)	N97K	probably damaging	Het
Polr1a	T	C	6: 71,927,648 (GRCm39)		probably null	Het
Prss42	G	A	9: 110,628,341 (GRCm39)	V162I	possibly damaging	Het
Rbfox2	A	T	15: 76,983,455 (GRCm39)	Y269N	probably damaging	Het
Rftn2	A	T	1: 55,253,354 (GRCm39)	I83K	probably damaging	Het
S1pr4	A	T	10: 81,334,823 (GRCm39)	I217N	probably damaging	Het
Slc23a2	T	C	2: 131,920,353 (GRCm39)	K184R	probably benign	Het
Slc6a19	T	C	13: 73,839,814 (GRCm39)	N156S	probably benign	Het
Svep1	C	T	4: 58,088,280 (GRCm39)	G1723D	probably damaging	Het
Tbc1d32	T	A	10: 56,068,994 (GRCm39)	H358L	possibly damaging	Het
Tex55	G	A	16: 38,649,064 (GRCm39)	T15I	probably benign	Het
Tigit	G	T	16: 43,482,634 (GRCm39)	N33K	probably damaging	Het
Tmem25	T	C	9: 44,707,878 (GRCm39)	Y139C	probably damaging	Het
Trmt13	G	A	3: 116,376,275 (GRCm39)	T372M	probably damaging	Het
Ubr2	A	T	17: 47,294,224 (GRCm39)	M303K	probably damaging	Het
Usp34	A	G	11: 23,417,207 (GRCm39)	E2952G	probably damaging	Het
Zan	T	A	5: 137,389,920 (GRCm39)	I4851F	unknown	Het
Zfand4	C	T	6: 116,265,015 (GRCm39)	T160I	probably benign	Het
Zfp1005	A	G	2: 150,109,993 (GRCm39)	T228A	possibly damaging	Het

Other mutations in Cuzd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GGCTAAGAATCAAGGAGACGGCTCTAC -3'
(R):5'- GTTCTGAGGGACTGACAAAGTTCCAG -3'

Sequencing Primer
(F):5'- GAGACGGCTCTACGTAAGTAATCATC -3'
(R):5'- AGGTCTGCCATCATAAATCTGAG -3'

Posted On

2013-05-23