Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:Cuzd1'

644206

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

Essential gene?

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

Stock #

R8328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131308554-131322292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131311616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 424 (V424D)

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: V424D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205
AA Change: V424D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,890,012	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,454,866	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215	E489K	probably benign	Het
Arhgef28	A	T	13: 98,051,009	H259Q	possibly damaging	Het
C3	T	C	17: 57,220,973	S749G	probably benign	Het
Celsr1	A	G	15: 85,922,244	S2338P	probably benign	Het
Ces2a	A	T	8: 104,737,366	N210I	probably damaging	Het
Cyp2j11	T	A	4: 96,348,368	H67L	probably benign	Het
Dennd5b	A	G	6: 149,020,617	S800P	probably damaging	Het
Dmrta2	G	T	4: 109,980,009	L49F	unknown	Het
Dpy19l1	T	A	9: 24,475,390	K9*	probably null	Het
Dsc2	T	C	18: 20,032,519	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,376,950	F6I	probably benign	Het
Fam214b	T	C	4: 43,034,751	T323A	probably benign	Het
Gm13084	A	G	4: 143,810,810	L317P	probably damaging	Het
Hck	C	T	2: 153,129,067	A83V	probably damaging	Het
Hdc	T	C	2: 126,601,883	E292G	probably damaging	Het
Ighv1-23	A	G	12: 114,764,496	L102P	probably damaging	Het
Kdm3b	G	A	18: 34,793,070	V88M	probably damaging	Het
Kremen2	A	G	17: 23,742,771	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,235,641	I622N	probably damaging	Het
Megf8	A	G	7: 25,347,492	N1600S	probably benign	Het
Mical3	A	G	6: 120,935,177	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323	Y26N	probably damaging	Het
Nrl	T	C	14: 55,520,706	E188G	probably damaging	Het
Olfr311	T	A	11: 58,841,634	D173E	probably benign	Het
Olfr464	A	G	11: 87,914,159	M249T	possibly damaging	Het
Polr1a	G	A	6: 71,920,734	E238K	probably benign	Het
Prr5	G	C	15: 84,703,186	*388S	probably null	Het
Rptor	A	G	11: 119,892,647	T1156A	probably benign	Het
Slc9c1	T	A	16: 45,577,864	I664K	probably damaging	Het
Stn1	C	A	19: 47,517,059	R152L	probably damaging	Het
Syde2	T	C	3: 146,015,741	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,790,062	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,806,473	V16L	probably benign	Het
Wdr19	A	G	5: 65,225,295	E454G	probably damaging	Het
Zan	C	T	5: 137,394,464	E4590K	unknown	Het
Zfp579	T	G	7: 4,994,867	H15P	unknown	Het
Zfp628	A	G	7: 4,919,814	N345S	probably benign	Het
Zfp944	T	A	17: 22,339,724	K181*	probably null	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	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
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'- GTGCCAATACACCAGTGCAC -3'
(R):5'- AGATCGTGGTGACCTGTGAG -3'

Sequencing Primer
(F):5'- ACAACTGATGTCGGCCTCTAG -3'
(R):5'- CTGTGAGATGGAGTATAACTCTACCG -3'

Posted On

2020-09-02