Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Cuzd1'

30691

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

038581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131308554-131322292 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 131311908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130971 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,046,252	T4707I	probably damaging	Het
5730522E02Rik	T	A	11: 25,769,092	Y17F	unknown	Het
Aars2	A	G	17: 45,514,550	D313G	probably damaging	Het
Abca9	A	T	11: 110,115,447	D1277E	probably benign	Het
Adgrl1	G	T	8: 83,934,901	A981S	probably damaging	Het
Aff3	T	G	1: 38,204,940	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,839,996	H78L	probably benign	Het
Cacna1g	C	A	11: 94,411,054	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,356,401		probably benign	Het
Carf	T	C	1: 60,144,002	V386A	probably damaging	Het
Cd46	A	G	1: 195,086,164	S82P	probably benign	Het
Clic5	A	G	17: 44,270,623	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,225,661	T529A	probably benign	Het
Col7a1	C	T	9: 108,980,237	R2627C	unknown	Het
Cwc27	T	C	13: 104,807,823	D50G	possibly damaging	Het
Dhx38	A	G	8: 109,555,181	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,258,121	E834A	probably damaging	Het
Dsg4	A	G	18: 20,470,879	D801G	probably damaging	Het
Dtx1	T	C	5: 120,681,399	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,300,193	H116L	probably damaging	Het
Fam208b	A	G	13: 3,596,842	V61A	possibly damaging	Het
Fbxw18	T	C	9: 109,688,839	I360V	possibly damaging	Het
Fignl2	G	A	15: 101,054,093	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,836,374	C545*	probably null	Het
Gm3336	A	G	8: 70,718,645		probably benign	Het
Gpr37	T	C	6: 25,669,291	N518S	probably benign	Het
Hbs1l	T	A	10: 21,342,541	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,692,720	S247R	probably benign	Het
Ifnb1	A	T	4: 88,522,744	F11I	probably benign	Het
Marf1	T	C	16: 14,151,320		probably benign	Het
Myo1f	T	A	17: 33,601,956	V879E	probably benign	Het
Naip1	A	G	13: 100,409,148	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,474,159	E529G	probably damaging	Het
Npm3	T	C	19: 45,748,229	E157G	probably damaging	Het
Olfr1200	T	A	2: 88,767,641	T225S	possibly damaging	Het
Olfr1240	G	T	2: 89,439,396	N294K	probably benign	Het
Olfr248	A	G	1: 174,391,209	T47A	probably damaging	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,633,287	V768A	probably benign	Het
Prrc1	A	G	18: 57,362,492	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,477,283	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,899,823	V181F	probably damaging	Het
Ror2	T	C	13: 53,132,004	N58S	probably damaging	Het
Selplg	G	A	5: 113,820,008	T79I	probably damaging	Het
Setd1b	G	A	5: 123,157,437	G1023S	unknown	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Skint5	A	G	4: 113,705,596	V803A	unknown	Het
Slc25a46	T	C	18: 31,583,266	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,680,953	I101K	possibly damaging	Het
Spag17	C	A	3: 100,027,590	T704K	probably benign	Het
Tas2r144	T	A	6: 42,216,124	M266K	possibly damaging	Het
Tbc1d31	T	A	15: 57,955,350	L783H	probably benign	Het
Tbck	C	A	3: 132,751,232		probably benign	Het
Vcan	A	G	13: 89,691,275	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,634,060	N158K	probably damaging	Het
Vmn2r103	A	G	17: 19,793,464	T173A	probably benign	Het
Vmn2r103	T	A	17: 19,792,859	Y81N	probably benign	Het
Ylpm1	T	G	12: 85,014,980	S552A	unknown	Het
Zdhhc17	A	T	10: 110,982,106	Y58*	probably null	Het

Other mutations in Cuzd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Cuzd1	APN	7	131316136	missense	probably damaging	0.99
IGL01140:Cuzd1	APN	7	131311794	missense	probably damaging	1.00
IGL01773:Cuzd1	APN	7	131314885	missense	probably damaging	1.00
IGL02960:Cuzd1	APN	7	131320103	missense	probably benign	0.01
PIT4504001:Cuzd1	UTSW	7	131309800	missense	possibly damaging	0.88
R0233:Cuzd1	UTSW	7	131311816	missense	possibly damaging	0.61
R0233:Cuzd1	UTSW	7	131311816	missense	possibly damaging	0.61
R0363:Cuzd1	UTSW	7	131316262	missense	probably benign	0.16
R0446:Cuzd1	UTSW	7	131316280	splice site	probably null
R0482:Cuzd1	UTSW	7	131309872	unclassified	probably benign
R0765:Cuzd1	UTSW	7	131316095	missense	probably benign	0.40
R0932:Cuzd1	UTSW	7	131320194	intron	probably benign
R1463:Cuzd1	UTSW	7	131316642	missense	probably damaging	1.00
R1533:Cuzd1	UTSW	7	131311703	missense	probably damaging	0.99
R1722:Cuzd1	UTSW	7	131311644	missense	probably damaging	0.96
R1920:Cuzd1	UTSW	7	131309696	missense	probably benign	0.00
R2027:Cuzd1	UTSW	7	131320091	missense	possibly damaging	0.93
R2039:Cuzd1	UTSW	7	131309616	missense	probably benign	0.00
R2039:Cuzd1	UTSW	7	131314914	intron	probably benign
R2857:Cuzd1	UTSW	7	131316134	missense	probably damaging	0.97
R2859:Cuzd1	UTSW	7	131316134	missense	probably damaging	0.97
R4585:Cuzd1	UTSW	7	131314800	missense	probably damaging	1.00
R4586:Cuzd1	UTSW	7	131314800	missense	probably damaging	1.00
R4830:Cuzd1	UTSW	7	131318054	missense	probably damaging	0.99
R4945:Cuzd1	UTSW	7	131316621	missense	probably damaging	1.00
R5009:Cuzd1	UTSW	7	131311523	missense	probably damaging	1.00
R5337:Cuzd1	UTSW	7	131316074	missense	probably damaging	1.00
R5355:Cuzd1	UTSW	7	131316124	missense	probably damaging	1.00
R6543:Cuzd1	UTSW	7	131309768	missense	probably damaging	1.00
R6569:Cuzd1	UTSW	7	131311757	missense	probably damaging	1.00
R6681:Cuzd1	UTSW	7	131311683	missense	probably damaging	1.00
R6818:Cuzd1	UTSW	7	131316665	missense	probably damaging	1.00
R6819:Cuzd1	UTSW	7	131309731	missense	possibly damaging	0.51
R7031:Cuzd1	UTSW	7	131308851	missense	probably benign	0.22
R7524:Cuzd1	UTSW	7	131311618	missense	probably damaging	0.97
R8328:Cuzd1	UTSW	7	131311616	missense	probably damaging	1.00
R8403:Cuzd1	UTSW	7	131311568	missense	probably damaging	1.00
R8425:Cuzd1	UTSW	7	131317991	missense	possibly damaging	0.54
R8519:Cuzd1	UTSW	7	131308897	missense	possibly damaging	0.47
R8879:Cuzd1	UTSW	7	131308848	missense	probably damaging	0.99
R8977:Cuzd1	UTSW	7	131322025	missense	probably benign	0.35
R9672:Cuzd1	UTSW	7	131318118	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GGTGTTGTATTTGCCCAGGACACTC -3'
(R):5'- GAATGTGATCCTTCTGCCTCAGCC -3'

Sequencing Primer
(F):5'- CCAGGACACTCTGGTTCTGTATG -3'
(R):5'- ctaggagcctgtgccaac -3'

Posted On

2013-04-24