Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01820:Cnppd1'

154517

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnppd1

Ensembl Gene

ENSMUSG00000033159

Gene Name

cyclin Pas1/PHO80 domain containing 1

Synonyms

1810031K17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01820

Quality Score

Status

Chromosome

Chromosomal Location

75112406-75119374 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 75116236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041213] [ENSMUST00000097694] [ENSMUST00000168720] [ENSMUST00000187901] [ENSMUST00000190679] [ENSMUST00000189403] [ENSMUST00000189809] [ENSMUST00000190240] [ENSMUST00000189650] [ENSMUST00000188873]

AlphaFold

Q8K158

Predicted Effect

probably benign
Transcript: ENSMUST00000041213
AA Change: H116Q

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044799
Gene: ENSMUSG00000033159
AA Change: H116Q

Domain	Start	End	E-Value	Type
Pfam:Cyclin	72	174	7.5e-10	PFAM
low complexity region	231	252	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097694

SMART Domains

Protein: ENSMUSP00000095300
Gene: ENSMUSG00000049339

Domain	Start	End	E-Value	Type
low complexity region	1	28	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	84	114	N/A	INTRINSIC
transmembrane domain	198	220	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC
low complexity region	453	491	N/A	INTRINSIC
low complexity region	506	520	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168720
AA Change: H116Q

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132688
Gene: ENSMUSG00000033159
AA Change: H116Q

Domain	Start	End	E-Value	Type
Pfam:Cyclin	49	174	5.2e-13	PFAM
Pfam:Cyclin_N	55	175	4.4e-6	PFAM
low complexity region	231	252	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187888

Predicted Effect

probably benign
Transcript: ENSMUST00000187901

SMART Domains

Protein: ENSMUSP00000140636
Gene: ENSMUSG00000049339

Domain	Start	End	E-Value	Type
low complexity region	12	39	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188037

Predicted Effect

probably benign
Transcript: ENSMUST00000190679
AA Change: H116Q

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140289
Gene: ENSMUSG00000033159
AA Change: H116Q

Domain	Start	End	E-Value	Type
Pfam:Cyclin	49	174	5.2e-13	PFAM
Pfam:Cyclin_N	55	175	4.4e-6	PFAM
low complexity region	231	252	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189403
AA Change: H116Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141062
Gene: ENSMUSG00000033159
AA Change: H116Q

Domain	Start	End	E-Value	Type
Pfam:Cyclin	44	170	1.2e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000189809

SMART Domains

Protein: ENSMUSP00000140262
Gene: ENSMUSG00000033159

Domain	Start	End	E-Value	Type
Blast:CYCLIN	81	114	1e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188977

Predicted Effect

probably benign
Transcript: ENSMUST00000190240

SMART Domains

Protein: ENSMUSP00000139410
Gene: ENSMUSG00000049339

Domain	Start	End	E-Value	Type
low complexity region	1	28	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
Pfam:Reticulon	65	231	1.4e-8	PFAM
low complexity region	269	283	N/A	INTRINSIC
low complexity region	435	454	N/A	INTRINSIC
low complexity region	469	483	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189650

SMART Domains

Protein: ENSMUSP00000139473
Gene: ENSMUSG00000049339

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	45	75	N/A	INTRINSIC
low complexity region	123	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188873

SMART Domains

Protein: ENSMUSP00000139508
Gene: ENSMUSG00000049339

Domain	Start	End	E-Value	Type
low complexity region	1	28	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	84	114	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,896 (GRCm39)		probably benign	Het
Adcy2	T	C	13: 68,886,664 (GRCm39)		probably null	Het
Akna	G	T	4: 63,304,495 (GRCm39)	T553N	probably benign	Het
Boc	A	G	16: 44,312,235 (GRCm39)	I609T	possibly damaging	Het
Btbd9	C	T	17: 30,746,383 (GRCm39)	V148I	possibly damaging	Het
Cacna1d	A	T	14: 29,764,823 (GRCm39)	I2049N	possibly damaging	Het
Cdhr1	A	T	14: 36,807,536 (GRCm39)	M368K	probably benign	Het
Cftr	A	G	6: 18,226,138 (GRCm39)	Y362C	probably damaging	Het
Col3a1	T	C	1: 45,360,768 (GRCm39)	I66T	unknown	Het
Col5a2	C	A	1: 45,481,985 (GRCm39)	M46I	unknown	Het
Csmd3	G	T	15: 47,470,538 (GRCm39)	C3379*	probably null	Het
Ctla2b	T	A	13: 61,044,503 (GRCm39)	*28C	probably null	Het
Ddhd2	C	T	8: 26,239,781 (GRCm39)	E33K	possibly damaging	Het
Dock3	T	C	9: 106,773,092 (GRCm39)	H387R	probably damaging	Het
Dyrk1b	T	A	7: 27,881,025 (GRCm39)		probably benign	Het
Fam131c	T	C	4: 141,107,648 (GRCm39)	C53R	probably damaging	Het
Fat1	T	A	8: 45,463,539 (GRCm39)	F1360L	probably damaging	Het
Gm10320	G	T	13: 98,626,045 (GRCm39)	S113*	probably null	Het
Ifih1	T	C	2: 62,447,657 (GRCm39)	D349G	probably damaging	Het
Il12a	T	C	3: 68,599,495 (GRCm39)		probably benign	Het
Ivl	A	T	3: 92,478,940 (GRCm39)	M375K	possibly damaging	Het
Krt82	C	A	15: 101,451,887 (GRCm39)		probably benign	Het
Mc4r	C	T	18: 66,992,226 (GRCm39)	V296I	probably benign	Het
Met	T	A	6: 17,534,230 (GRCm39)	I691N	possibly damaging	Het
Mycbp2	A	T	14: 103,425,937 (GRCm39)	I2396K	probably damaging	Het
Napg	C	A	18: 63,119,516 (GRCm39)	Q135K	probably benign	Het
Nf2	A	T	11: 4,739,655 (GRCm39)		probably null	Het
Nrxn1	G	T	17: 90,950,531 (GRCm39)	H549Q	probably damaging	Het
P4ha1	T	A	10: 59,197,736 (GRCm39)	I321K	probably damaging	Het
Prl5a1	T	C	13: 28,332,683 (GRCm39)	S94P	probably benign	Het
Prnp	T	C	2: 131,778,990 (GRCm39)	V214A	probably benign	Het
Ptprc	A	T	1: 137,993,936 (GRCm39)	F1165I	probably damaging	Het
Rdh10	T	C	1: 16,198,483 (GRCm39)	V207A	possibly damaging	Het
Rel	A	T	11: 23,703,218 (GRCm39)	N131K	probably benign	Het
Rgs14	A	T	13: 55,531,338 (GRCm39)	D448V	probably benign	Het
Spag5	T	G	11: 78,195,085 (GRCm39)	S131A	probably benign	Het
Styxl1	C	T	5: 135,794,604 (GRCm39)	D88N	probably damaging	Het
Tlr3	C	T	8: 45,851,376 (GRCm39)	R507H	probably benign	Het
Ttn	C	T	2: 76,616,670 (GRCm39)	E16528K	possibly damaging	Het
Txlnb	T	C	10: 17,682,606 (GRCm39)		probably null	Het
Unc13a	A	G	8: 72,107,591 (GRCm39)	V567A	probably damaging	Het
Vmn1r8	T	C	6: 57,013,653 (GRCm39)	S235P	possibly damaging	Het
Vmn2r51	T	A	7: 9,839,409 (GRCm39)	N60Y	probably damaging	Het
Wbp1l	T	A	19: 46,640,922 (GRCm39)	L68Q	probably damaging	Het
Wdfy3	A	T	5: 102,071,947 (GRCm39)	V981E	probably benign	Het
Zdhhc13	T	C	7: 48,458,613 (GRCm39)	S316P	probably damaging	Het
Zfp516	C	T	18: 83,005,486 (GRCm39)	R797C	probably benign	Het
Zp3r	A	G	1: 130,526,657 (GRCm39)	V182A	probably benign	Het

Other mutations in Cnppd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0279:Cnppd1	UTSW	1	75,113,573 (GRCm39)	missense	probably damaging	0.97
R4843:Cnppd1	UTSW	1	75,113,086 (GRCm39)	missense	probably benign
R5860:Cnppd1	UTSW	1	75,113,131 (GRCm39)	missense	probably benign
R6622:Cnppd1	UTSW	1	75,113,539 (GRCm39)	missense	probably damaging	1.00
R7301:Cnppd1	UTSW	1	75,113,068 (GRCm39)	missense	probably damaging	1.00
R8852:Cnppd1	UTSW	1	75,113,063 (GRCm39)	missense	probably damaging	1.00
R8860:Cnppd1	UTSW	1	75,113,063 (GRCm39)	missense	probably damaging	1.00
R8967:Cnppd1	UTSW	1	75,113,265 (GRCm39)	nonsense	probably null
R9231:Cnppd1	UTSW	1	75,116,261 (GRCm39)	missense	possibly damaging	0.46
R9367:Cnppd1	UTSW	1	75,117,617 (GRCm39)	missense	probably benign	0.00
Z1176:Cnppd1	UTSW	1	75,117,595 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04