Mutagenetix > Incidental Mutation

Incidental Mutation 'R8519:Cuzd1'

658535

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

067946-MU

Accession Numbers

Essential gene?

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

Stock #

R8519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130910283-130924021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130910626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 556 (I556M)

Ref Sequence

ENSEMBL: ENSMUSP00000037168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046611] [ENSMUST00000124096] [ENSMUST00000208921]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046611
AA Change: I556M

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205
AA Change: I556M

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,038,619 (GRCm39)	T964A	possibly damaging	Het
Adamts7	G	A	9: 90,075,610 (GRCm39)	W1156*	probably null	Het
Adcy9	T	C	16: 4,105,992 (GRCm39)	I1041V	possibly damaging	Het
Armh4	T	C	14: 50,010,693 (GRCm39)	D338G	probably damaging	Het
Art4	C	A	6: 136,831,349 (GRCm39)		probably null	Het
Bcl9	A	G	3: 97,116,334 (GRCm39)	S787P	probably benign	Het
Bptf	T	C	11: 106,952,590 (GRCm39)	T2088A	probably damaging	Het
Cdc45	T	C	16: 18,627,597 (GRCm39)	N76S	probably damaging	Het
Cdon	A	G	9: 35,389,950 (GRCm39)	D868G	probably damaging	Het
Cldn10	T	G	14: 119,092,439 (GRCm39)	V13G	probably benign	Het
Cnot6	G	T	11: 49,575,941 (GRCm39)	Q178K	probably benign	Het
Crot	T	C	5: 9,023,629 (GRCm39)	I420V	probably benign	Het
Csgalnact1	T	A	8: 68,854,105 (GRCm39)	H232L	possibly damaging	Het
Cyp2c54	G	A	19: 40,026,857 (GRCm39)	R433W	probably damaging	Het
Cyp2j11	A	G	4: 96,207,539 (GRCm39)	F259L	probably benign	Het
Dhx9	C	T	1: 153,348,922 (GRCm39)	G264R	probably damaging	Het
Dnah5	G	A	15: 28,299,245 (GRCm39)	V1536M	probably benign	Het
Erlin1	T	A	19: 44,058,041 (GRCm39)		probably benign	Het
Foxb2	C	A	19: 16,850,347 (GRCm39)	V220L	possibly damaging	Het
Gigyf2	A	T	1: 87,338,431 (GRCm39)	T388S	probably benign	Het
Gimap5	T	C	6: 48,730,068 (GRCm39)	C213R	probably benign	Het
Gkap1	T	G	13: 58,386,506 (GRCm39)	K57N	probably damaging	Het
H60b	T	G	10: 22,159,421 (GRCm39)		probably benign	Het
Hectd4	C	T	5: 121,442,489 (GRCm39)	R670*	probably null	Het
Hoxc9	A	G	15: 102,892,341 (GRCm39)	N185D	probably damaging	Het
Igkv1-117	A	G	6: 68,098,766 (GRCm39)	E105G	possibly damaging	Het
Klk10	T	A	7: 43,432,239 (GRCm39)	Y57*	probably null	Het
Lrrc63	A	T	14: 75,363,312 (GRCm39)	I273K	possibly damaging	Het
M6pr	T	C	6: 122,292,025 (GRCm39)	I119T	probably damaging	Het
Mael	T	C	1: 166,063,127 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,681,330 (GRCm39)	S574P	possibly damaging	Het
Man2c1	A	G	9: 57,044,061 (GRCm39)	D291G	probably benign	Het
Mapk1ip1l	A	T	14: 47,547,920 (GRCm39)		probably benign	Het
Mrc2	A	G	11: 105,238,132 (GRCm39)	T1135A	possibly damaging	Het
Mrpl39	A	G	16: 84,527,736 (GRCm39)	V164A	probably benign	Het
Mynn	C	A	3: 30,661,290 (GRCm39)	P124H	probably damaging	Het
Or11l3	T	G	11: 58,516,800 (GRCm39)	Q23P	probably damaging	Het
Or14n1-ps1	A	T	7: 86,093,062 (GRCm39)	N291I	probably damaging	Het
Or2k2	A	G	4: 58,785,203 (GRCm39)	I173T	probably damaging	Het
Or2t48	A	G	11: 58,420,329 (GRCm39)	F161S	possibly damaging	Het
Or6k2	A	G	1: 173,986,614 (GRCm39)	I92V	probably damaging	Het
Pcif1	A	G	2: 164,726,303 (GRCm39)	N68S	probably damaging	Het
Pcm1	T	A	8: 41,728,976 (GRCm39)	N649K	probably damaging	Het
Pira1	T	C	7: 3,740,432 (GRCm39)	Q263R	probably benign	Het
Plxna2	T	A	1: 194,476,266 (GRCm39)	I1162N	probably damaging	Het
Pnp2	T	A	14: 51,201,842 (GRCm39)	L276Q	probably damaging	Het
Sirpb1c	T	A	3: 15,902,526 (GRCm39)	I18F	possibly damaging	Het
Slc2a12	A	T	10: 22,540,678 (GRCm39)	M178L	probably damaging	Het
Slc35c1	G	T	2: 92,285,052 (GRCm39)	F187L	probably benign	Het
Smg1	T	C	7: 117,770,982 (GRCm39)		probably benign	Het
Spmip6	A	G	4: 41,505,071 (GRCm39)	S214P	possibly damaging	Het
Spopfm2	T	C	3: 94,083,497 (GRCm39)	M105V	probably benign	Het
Stn1	T	C	19: 47,490,111 (GRCm39)	H342R	probably benign	Het
Sult1c2	A	T	17: 54,276,709 (GRCm39)	H117Q	probably damaging	Het
Thap1	G	A	8: 26,650,925 (GRCm39)	R42K	probably damaging	Het
Tpp2	A	T	1: 44,016,365 (GRCm39)		probably null	Het
Trib2	G	T	12: 15,865,347 (GRCm39)	P76Q	probably damaging	Het
Ttc24	G	T	3: 87,980,369 (GRCm39)	Q111K	probably damaging	Het
Ubr4	T	C	4: 139,143,958 (GRCm39)	S1401P	probably damaging	Het
Uggt1	A	C	1: 36,215,724 (GRCm39)		probably null	Het
Ugt2b1	A	G	5: 87,074,326 (GRCm39)	L11S	probably damaging	Het
Uso1	T	G	5: 92,343,222 (GRCm39)	S769A	probably benign	Het
Vmn2r117	T	C	17: 23,698,442 (GRCm39)	T44A	probably benign	Het
Vmn2r28	T	A	7: 5,489,347 (GRCm39)	L497F	probably benign	Het
Vsig10l	G	A	7: 43,114,326 (GRCm39)	S318N	probably benign	Het
Wbp4	A	G	14: 79,714,263 (GRCm39)	L83P	probably damaging	Het
Wnk1	G	A	6: 119,927,044 (GRCm39)	R1510W	probably damaging	Het
Zc3hav1l	C	T	6: 38,272,176 (GRCm39)	V198M	probably damaging	Het
Zfp1004	A	G	2: 150,034,700 (GRCm39)	I340M	probably benign	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
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
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'- TTGGGGTCCACAGCTAGTAG -3'
(R):5'- TTGAAACCTGAGAGACTGCATAGG -3'

Sequencing Primer
(F):5'- AGCTAGTAGACCTGCAGCTTCTG -3'
(R):5'- GTTAAATGGCCTAAGGTAAAACCC -3'

Posted On

2021-01-18