Mutagenetix > Incidental Mutation

Incidental Mutation 'R4585:Cuzd1'

344017

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

041806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R4585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130910283-130924021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130916529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 310 (P310L)

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: P310L

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

SMART Domains

Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205
AA Change: P310L

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

Meta Mutation Damage Score

0.5872

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (90/91)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Akr7a5	G	T	4: 139,038,238 (GRCm39)	R58L	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Aurkaip1	C	A	4: 155,917,091 (GRCm39)	A113D	possibly damaging	Het
Bsn	T	C	9: 107,987,662 (GRCm39)		probably benign	Het
Ccdc175	T	G	12: 72,221,953 (GRCm39)	D123A	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Ccnt2	T	C	1: 127,730,766 (GRCm39)	S548P	probably damaging	Het
Cep126	T	C	9: 8,103,338 (GRCm39)	Q224R	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Cngb1	C	T	8: 96,023,756 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,723,024 (GRCm39)		probably null	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Crebrf	A	G	17: 26,981,229 (GRCm39)	K535R	probably damaging	Het
Cxcr5	T	A	9: 44,425,442 (GRCm39)	I72F	probably benign	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dlgap2	G	A	8: 14,777,999 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,970,541 (GRCm39)	D2684G	probably benign	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	G	A	18: 6,441,157 (GRCm39)	Q14*	probably null	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Glra3	C	A	8: 56,542,028 (GRCm39)	T257K	probably damaging	Het
Gm12789	A	G	4: 101,847,159 (GRCm39)	Y148C	possibly damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm19965	T	A	1: 116,749,508 (GRCm39)	N396K	probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gmcl1	A	G	6: 86,699,605 (GRCm39)	S141P	probably damaging	Het
Gsdmd	T	A	15: 75,737,600 (GRCm39)		probably null	Het
Gtf2a1	C	T	12: 91,529,700 (GRCm39)	V338I	possibly damaging	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Lctl	T	C	9: 64,038,882 (GRCm39)	S324P	probably damaging	Het
Lrrc24	C	A	15: 76,607,889 (GRCm39)	R43L	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mroh5	T	A	15: 73,661,120 (GRCm39)	T467S	probably benign	Het
Mtap	G	A	4: 89,090,511 (GRCm39)	V194I	probably benign	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pabpc6	A	G	17: 9,888,002 (GRCm39)	L183P	probably damaging	Het
Pcdh15	C	T	10: 74,460,116 (GRCm39)	R1355W	probably damaging	Het
Pcdhgb8	C	A	18: 37,895,413 (GRCm39)	A161E	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Phc2	A	T	4: 128,637,303 (GRCm39)	H563L	probably damaging	Het
Plekha2	C	A	8: 25,533,685 (GRCm39)	E291*	probably null	Het
Qser1	C	A	2: 104,617,138 (GRCm39)	V1225L	probably benign	Het
Ralgapa2	A	T	2: 146,156,944 (GRCm39)	D1882E	probably damaging	Het
Rgs17	T	C	10: 5,792,596 (GRCm39)	D70G	probably benign	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Serpinb10	T	A	1: 107,474,779 (GRCm39)	C314S	probably benign	Het
Setbp1	A	C	18: 79,130,164 (GRCm39)	S23A	probably benign	Het
Sh3pxd2b	A	G	11: 32,346,479 (GRCm39)	D116G	possibly damaging	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,351,491 (GRCm39)	L155P	probably damaging	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Strn3	T	A	12: 51,696,953 (GRCm39)	E259D	probably benign	Het
Tenm1	G	A	X: 41,626,856 (GRCm39)	Q1931*	probably null	Het
Trp53bp1	C	G	2: 121,038,432 (GRCm39)	G1469R	probably damaging	Het
Ttc8	C	A	12: 98,948,789 (GRCm39)	Q492K	probably benign	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Utrn	T	A	10: 12,564,050 (GRCm39)	H1270L	probably benign	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Wdfy4	T	A	14: 32,809,912 (GRCm39)	I1770F	possibly damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	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
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
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'- ATGCCTTCGTGTGTGAGTGAAC -3'
(R):5'- AAATGCAAAGTTCCTAGCTGGCC -3'

Sequencing Primer
(F):5'- CGTGTGTGAGTGAACATGTACAC -3'
(R):5'- TAGCTGGCCCAAATGTGATC -3'

Posted On

2015-09-24