Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00966:Cdcp3'

27900

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdcp3

Ensembl Gene

ENSMUSG00000006204

Gene Name

CUB domain containing protein 3

Synonyms

5430419D17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00966

Quality Score

Status

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 130844836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 692 (Y692*)

Ref Sequence

ENSEMBL: ENSMUSP00000150784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050586] [ENSMUST00000124096] [ENSMUST00000208921]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000050586
AA Change: Y576*

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: Y576*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	85	105	N/A	INTRINSIC
SR	144	244	3.3e-57	SMART
CUB	272	378	1.2e-16	SMART
SR	428	528	3.9e-56	SMART
low complexity region	533	548	N/A	INTRINSIC
CUB	556	667	5.1e-38	SMART
SR	680	780	1.5e-57	SMART
Pfam:CUB	795	840	3.1e-9	PFAM

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 null
Transcript: ENSMUST00000208921
AA Change: Y692*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,855 (GRCm39)	E649G	probably damaging	Het
Adgre1	C	A	17: 57,726,335 (GRCm39)	T402K	probably benign	Het
Agap3	A	G	5: 24,706,000 (GRCm39)		probably benign	Het
Amy1	T	C	3: 113,349,689 (GRCm39)	I494V	probably benign	Het
Arhgef40	G	A	14: 52,229,155 (GRCm39)		probably null	Het
Atp2c2	T	C	8: 120,472,329 (GRCm39)	V461A	probably benign	Het
Bub1	A	G	2: 127,652,583 (GRCm39)	S595P	probably damaging	Het
Cmya5	C	T	13: 93,234,414 (GRCm39)	V225I	probably benign	Het
Cnbd1	T	C	4: 18,906,988 (GRCm39)		probably benign	Het
Cux1	A	T	5: 136,340,345 (GRCm39)		probably benign	Het
Dsg3	T	A	18: 20,656,664 (GRCm39)	I178N	probably benign	Het
Dus2	T	A	8: 106,752,533 (GRCm39)		probably null	Het
Enpp1	G	A	10: 24,529,929 (GRCm39)	H570Y	probably damaging	Het
Ephb3	A	C	16: 21,036,044 (GRCm39)	T57P	probably benign	Het
Fat3	C	A	9: 15,910,390 (GRCm39)	V1871F	possibly damaging	Het
Fbll1	T	C	11: 35,688,874 (GRCm39)	T130A	probably benign	Het
Fbxl20	C	T	11: 98,001,800 (GRCm39)	S99N	probably damaging	Het
Folr2	T	C	7: 101,489,593 (GRCm39)	E182G	probably damaging	Het
Fras1	A	G	5: 96,703,080 (GRCm39)	D281G	probably benign	Het
Gm17175	G	T	14: 51,810,526 (GRCm39)	Q34K	possibly damaging	Het
Gm5592	T	A	7: 40,938,519 (GRCm39)	D600E	probably damaging	Het
Gtf2e1	T	C	16: 37,336,092 (GRCm39)	E294G	probably benign	Het
Gtf3c2	A	G	5: 31,327,517 (GRCm39)		probably benign	Het
Heg1	T	C	16: 33,530,977 (GRCm39)	L151P	probably damaging	Het
Hmcn2	T	G	2: 31,319,006 (GRCm39)	V3902G	probably damaging	Het
Ift140	A	G	17: 25,237,776 (GRCm39)	Y4C	probably damaging	Het
Ighv1-19	A	C	12: 114,672,569 (GRCm39)	V17G	possibly damaging	Het
Iqca1	T	A	1: 89,973,379 (GRCm39)	I770F	probably benign	Het
Jak3	T	A	8: 72,131,656 (GRCm39)	C115S	probably benign	Het
Kif18b	A	T	11: 102,805,501 (GRCm39)	M252K	probably damaging	Het
Klhdc7a	A	T	4: 139,694,236 (GRCm39)	V237D	probably benign	Het
Klhl11	C	T	11: 100,354,031 (GRCm39)	V597I	possibly damaging	Het
Krt72	T	A	15: 101,689,396 (GRCm39)	Y312F	probably damaging	Het
Lonp2	T	A	8: 87,360,600 (GRCm39)	I191N	probably damaging	Het
Npc2	A	T	12: 84,819,619 (GRCm39)	I8N	possibly damaging	Het
Nr4a1	T	C	15: 101,170,669 (GRCm39)	L413P	probably damaging	Het
Nup133	T	C	8: 124,638,645 (GRCm39)	N895S	probably damaging	Het
Or7e175	T	C	9: 20,048,531 (GRCm39)	F40L	probably benign	Het
Ppef1	A	G	X: 159,468,290 (GRCm39)	I94T	probably benign	Het
Prrt4	G	A	6: 29,176,455 (GRCm39)	T290I	probably benign	Het
Ptpru	A	T	4: 131,499,927 (GRCm39)	V1239E	probably damaging	Het
Rab8b	T	G	9: 66,760,274 (GRCm39)	M117L	probably benign	Het
S1pr5	T	A	9: 21,155,512 (GRCm39)	I305F	possibly damaging	Het
Sdr39u1	A	G	14: 56,135,463 (GRCm39)	V160A	probably damaging	Het
Slc6a21	C	T	7: 44,937,668 (GRCm39)	T653M	probably benign	Het
Stk39	T	A	2: 68,042,302 (GRCm39)	E544D	probably benign	Het
Tgfbr3	T	C	5: 107,290,367 (GRCm39)	T313A	probably benign	Het
Tle6	A	T	10: 81,430,292 (GRCm39)	L287M	probably damaging	Het
Tmc2	A	G	2: 130,105,932 (GRCm39)	H821R	probably benign	Het
Tmem230	G	T	2: 132,087,897 (GRCm39)	D26E	probably benign	Het
Tnfaip3	A	G	10: 18,880,885 (GRCm39)	F394S	probably damaging	Het
Ttn	T	A	2: 76,641,721 (GRCm39)	L13458F	probably damaging	Het
Vwa5a	A	T	9: 38,634,675 (GRCm39)	N161I	probably benign	Het
Wdr87-ps	C	A	7: 29,236,888 (GRCm39)		noncoding transcript	Het

Other mutations in Cdcp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Cdcp3	APN	7	130,839,823 (GRCm39)	splice site	probably null
IGL00848:Cdcp3	APN	7	130,848,453 (GRCm39)	missense	probably damaging	1.00
IGL01286:Cdcp3	APN	7	130,848,432 (GRCm39)	missense	probably damaging	1.00
IGL01303:Cdcp3	APN	7	130,796,060 (GRCm39)	missense	possibly damaging	0.53
IGL01585:Cdcp3	APN	7	130,846,487 (GRCm39)	missense	probably damaging	0.97
IGL01665:Cdcp3	APN	7	130,848,386 (GRCm39)	nonsense	probably null
IGL01953:Cdcp3	APN	7	130,826,709 (GRCm39)	missense	probably benign	0.04
IGL02427:Cdcp3	APN	7	130,846,517 (GRCm39)	missense	probably damaging	0.99
IGL02508:Cdcp3	APN	7	130,824,559 (GRCm39)	missense	probably damaging	1.00
IGL02678:Cdcp3	APN	7	130,830,646 (GRCm39)	missense	probably damaging	1.00
IGL03092:Cdcp3	APN	7	130,803,527 (GRCm39)	critical splice donor site	probably null
IGL03122:Cdcp3	APN	7	130,798,243 (GRCm39)	missense	possibly damaging	0.68
IGL03343:Cdcp3	APN	7	130,848,420 (GRCm39)	missense	probably damaging	1.00
R0011:Cdcp3	UTSW	7	130,831,722 (GRCm39)	missense	probably damaging	0.99
R0011:Cdcp3	UTSW	7	130,831,722 (GRCm39)	missense	probably damaging	0.99
R0234:Cdcp3	UTSW	7	130,796,032 (GRCm39)	splice site	probably null
R0234:Cdcp3	UTSW	7	130,796,032 (GRCm39)	splice site	probably null
R0268:Cdcp3	UTSW	7	130,839,905 (GRCm39)	missense	probably damaging	1.00
R0383:Cdcp3	UTSW	7	130,841,268 (GRCm39)	missense	probably benign	0.05
R0973:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R0973:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R0974:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R1572:Cdcp3	UTSW	7	130,846,560 (GRCm39)	nonsense	probably null
R1911:Cdcp3	UTSW	7	130,839,818 (GRCm39)	missense	probably damaging	1.00
R2032:Cdcp3	UTSW	7	130,844,781 (GRCm39)	missense	probably damaging	1.00
R2097:Cdcp3	UTSW	7	130,783,693 (GRCm39)	nonsense	probably null
R2221:Cdcp3	UTSW	7	130,849,186 (GRCm39)	critical splice acceptor site	probably null
R2223:Cdcp3	UTSW	7	130,849,186 (GRCm39)	critical splice acceptor site	probably null
R2254:Cdcp3	UTSW	7	130,824,634 (GRCm39)	missense	probably damaging	1.00
R2913:Cdcp3	UTSW	7	130,783,753 (GRCm39)	missense	possibly damaging	0.90
R2991:Cdcp3	UTSW	7	130,848,429 (GRCm39)	missense	probably damaging	1.00
R3439:Cdcp3	UTSW	7	130,790,508 (GRCm39)	critical splice donor site	probably null
R4418:Cdcp3	UTSW	7	130,849,194 (GRCm39)	missense	possibly damaging	0.86
R4916:Cdcp3	UTSW	7	130,776,206 (GRCm39)	splice site	probably null
R5488:Cdcp3	UTSW	7	130,848,324 (GRCm39)	missense	probably damaging	1.00
R5594:Cdcp3	UTSW	7	130,841,252 (GRCm39)	missense	probably benign	0.12
R5897:Cdcp3	UTSW	7	130,798,280 (GRCm39)	splice site	probably null
R5898:Cdcp3	UTSW	7	130,843,696 (GRCm39)	splice site	probably null
R5940:Cdcp3	UTSW	7	130,839,992 (GRCm39)	missense	probably damaging	1.00
R6170:Cdcp3	UTSW	7	130,776,216 (GRCm39)	splice site	probably null
R6187:Cdcp3	UTSW	7	130,872,328 (GRCm39)	intron	probably benign
R6321:Cdcp3	UTSW	7	130,858,735 (GRCm39)	critical splice donor site	probably null
R6409:Cdcp3	UTSW	7	130,863,800 (GRCm39)	intron	probably benign
R6432:Cdcp3	UTSW	7	130,846,601 (GRCm39)	critical splice donor site	probably null
R6481:Cdcp3	UTSW	7	130,858,530 (GRCm39)	missense	probably benign	0.05
R6750:Cdcp3	UTSW	7	130,889,974 (GRCm39)	intron	probably benign
R6783:Cdcp3	UTSW	7	130,828,493 (GRCm39)	missense	probably damaging	0.99
R6836:Cdcp3	UTSW	7	130,798,233 (GRCm39)	missense	possibly damaging	0.84
R6925:Cdcp3	UTSW	7	130,824,436 (GRCm39)	missense	possibly damaging	0.92
R6995:Cdcp3	UTSW	7	130,824,400 (GRCm39)	missense	probably damaging	1.00
R7199:Cdcp3	UTSW	7	130,837,641 (GRCm39)	nonsense	probably null
R7205:Cdcp3	UTSW	7	130,879,352 (GRCm39)	critical splice donor site	probably null
R7340:Cdcp3	UTSW	7	130,879,344 (GRCm39)	missense	unknown
R7354:Cdcp3	UTSW	7	130,873,762 (GRCm39)	missense	unknown
R7354:Cdcp3	UTSW	7	130,858,458 (GRCm39)	missense	possibly damaging	0.84
R7434:Cdcp3	UTSW	7	130,881,212 (GRCm39)	missense	unknown
R7485:Cdcp3	UTSW	7	130,830,562 (GRCm39)	missense	probably damaging	0.99
R7513:Cdcp3	UTSW	7	130,873,800 (GRCm39)	missense	unknown
R7562:Cdcp3	UTSW	7	130,904,426 (GRCm39)	missense	unknown
R7623:Cdcp3	UTSW	7	130,879,295 (GRCm39)	splice site	probably null
R7782:Cdcp3	UTSW	7	130,904,466 (GRCm39)	splice site	probably null
R7879:Cdcp3	UTSW	7	130,844,871 (GRCm39)	missense	probably damaging	0.98
R7935:Cdcp3	UTSW	7	130,852,205 (GRCm39)	missense	probably damaging	0.96
R7949:Cdcp3	UTSW	7	130,895,324 (GRCm39)	splice site	probably null
R7964:Cdcp3	UTSW	7	130,899,963 (GRCm39)	missense	unknown
R7980:Cdcp3	UTSW	7	130,836,506 (GRCm39)	missense	probably damaging	0.98
R8145:Cdcp3	UTSW	7	130,898,045 (GRCm39)	missense	unknown
R8673:Cdcp3	UTSW	7	130,844,846 (GRCm39)	missense	probably damaging	0.99
R8684:Cdcp3	UTSW	7	130,837,688 (GRCm39)	nonsense	probably null
R8721:Cdcp3	UTSW	7	130,879,335 (GRCm39)	missense	unknown
R8725:Cdcp3	UTSW	7	130,875,485 (GRCm39)	missense	unknown
R8727:Cdcp3	UTSW	7	130,875,485 (GRCm39)	missense	unknown
R8742:Cdcp3	UTSW	7	130,783,741 (GRCm39)	missense	unknown
R8807:Cdcp3	UTSW	7	130,846,507 (GRCm39)	missense	probably damaging	0.97
R8822:Cdcp3	UTSW	7	130,843,706 (GRCm39)	critical splice acceptor site	probably null
R8861:Cdcp3	UTSW	7	130,861,690 (GRCm39)	nonsense	probably null
R8897:Cdcp3	UTSW	7	130,867,566 (GRCm39)	missense	unknown
R8900:Cdcp3	UTSW	7	130,904,197 (GRCm39)	intron	probably benign
R9214:Cdcp3	UTSW	7	130,824,481 (GRCm39)	missense	possibly damaging	0.89
R9218:Cdcp3	UTSW	7	130,863,728 (GRCm39)	missense	unknown
R9311:Cdcp3	UTSW	7	130,859,490 (GRCm39)	missense	unknown
R9323:Cdcp3	UTSW	7	130,828,401 (GRCm39)	missense	probably damaging	0.96
R9384:Cdcp3	UTSW	7	130,904,404 (GRCm39)	missense	unknown
R9387:Cdcp3	UTSW	7	130,863,620 (GRCm39)	missense	unknown
R9417:Cdcp3	UTSW	7	130,852,218 (GRCm39)	missense	possibly damaging	0.60
R9502:Cdcp3	UTSW	7	130,836,815 (GRCm39)	missense	possibly damaging	0.61
R9603:Cdcp3	UTSW	7	130,830,643 (GRCm39)	missense	probably damaging	0.98
R9642:Cdcp3	UTSW	7	130,848,257 (GRCm39)	missense	probably benign	0.01
Z1088:Cdcp3	UTSW	7	130,848,362 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdcp3	UTSW	7	130,867,595 (GRCm39)	missense	unknown

Posted On

2013-04-17