Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Cuzd1'

676767

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131308554-131322292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131308848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 573 (S573P)

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 damaging
Transcript: ENSMUST00000046611
AA Change: S573P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205
AA Change: S573P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208921

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158	A1356S	unknown	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704		probably benign	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709		probably benign	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	probably benign	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
R0375:Cuzd1	UTSW	7	131311908	intron	probably benign
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
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'- ACAGGGAGCTGCTTCATCAG -3'
(R):5'- CAGGTTAAATGGCCTAAGGTAAAACC -3'

Sequencing Primer
(F):5'- TGCTTCATCAGGCACCCAG -3'
(R):5'- GGCCTAAGGTAAAACCCAACTATAAC -3'

Posted On

2021-07-15