Mutagenetix > Incidental Mutation

Incidental Mutation 'R1610:Chpf'

176703

Institutional Source

Beutler Lab

Gene Symbol

Chpf

Ensembl Gene

ENSMUSG00000032997

Gene Name

chondroitin polymerizing factor

Synonyms

1700028N03Rik, D1Bwg1363e

MMRRC Submission

039647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75474569-75479307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75476648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 327 (V327A)

Ref Sequence

ENSEMBL: ENSMUSP00000078199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037708] [ENSMUST00000050899] [ENSMUST00000079205] [ENSMUST00000094818] [ENSMUST00000113575] [ENSMUST00000113577] [ENSMUST00000124042] [ENSMUST00000138683] [ENSMUST00000148980] [ENSMUST00000187411]

AlphaFold

Q6IQX7

Predicted Effect

probably benign
Transcript: ENSMUST00000037708

SMART Domains

Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
Pfam:ASC	45	464	5.3e-92	PFAM
low complexity region	507	533	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000050899

SMART Domains

Protein: ENSMUSP00000057865
Gene: ENSMUSG00000051703

Domain	Start	End	E-Value	Type
Pfam:DUF4203	40	236	7.2e-51	PFAM
low complexity region	252	302	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000079205
AA Change: V327A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: V327A

Domain	Start	End	E-Value	Type
low complexity region	37	46	N/A	INTRINSIC
Pfam:CHGN	262	761	5e-150	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094818
AA Change: V165A

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
AA Change: V165A

Domain	Start	End	E-Value	Type
Pfam:CHGN	100	599	3.3e-174	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113575

SMART Domains

Protein: ENSMUSP00000109205
Gene: ENSMUSG00000051703

Domain	Start	End	E-Value	Type
Pfam:DUF4203	39	237	2.2e-59	PFAM
low complexity region	252	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113577

SMART Domains

Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
Pfam:ASC	45	346	5.5e-94	PFAM
Pfam:ASC	344	446	1.4e-42	PFAM
low complexity region	488	514	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124042

SMART Domains

Protein: ENSMUSP00000122057
Gene: ENSMUSG00000032997

Domain	Start	End	E-Value	Type
low complexity region	37	46	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138683

SMART Domains

Protein: ENSMUSP00000117253
Gene: ENSMUSG00000032997

Domain	Start	End	E-Value	Type
low complexity region	37	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143496

Predicted Effect

probably benign
Transcript: ENSMUST00000148980

SMART Domains

Protein: ENSMUSP00000116977
Gene: ENSMUSG00000051703

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:DUF4203	119	150	6.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156499

Predicted Effect

probably benign
Transcript: ENSMUST00000187411

SMART Domains

Protein: ENSMUSP00000140795
Gene: ENSMUSG00000051703

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
Pfam:DUF4203	101	142	6.9e-10	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice are viable and no detectable mutant phenotype is reported. Mice homozygous for another knock-out allele exhibit slight reduction in femur and tibia length. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	G	T	6: 96,165,289	P258Q	probably damaging	Het
4930452B06Rik	G	T	14: 8,511,110	H435N	probably benign	Het
Acbd5	G	A	2: 23,090,551	C312Y	probably damaging	Het
Adgrl1	T	A	8: 83,932,373	M601K	probably benign	Het
Agbl4	G	A	4: 111,657,168	E459K	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Casz1	C	T	4: 148,929,087	A36V	possibly damaging	Het
Cldn23	A	G	8: 35,825,930	Y135H	probably damaging	Het
Cobll1	C	T	2: 65,133,642	D211N	probably damaging	Het
Cramp1l	A	G	17: 24,983,951	V368A	probably benign	Het
Dnah6	T	C	6: 73,144,963	T1374A	probably benign	Het
Dpyd	A	G	3: 119,065,006	H623R	probably benign	Het
Dyrk2	T	C	10: 118,859,925	N476S	probably benign	Het
Endog	A	T	2: 30,173,887	I267F	probably damaging	Het
Ephb6	A	T	6: 41,614,373	K155*	probably null	Het
Far2	T	C	6: 148,157,458	V214A	possibly damaging	Het
Fat2	A	G	11: 55,278,924	V3003A	probably damaging	Het
Frg2f1	T	A	4: 119,531,288	T5S	possibly damaging	Het
Gm14496	A	T	2: 181,996,179	T349S	probably benign	Het
Golgb1	A	G	16: 36,926,101	T2951A	probably benign	Het
Hc	G	T	2: 35,006,161	D1203E	probably benign	Het
Isg20	C	A	7: 78,914,509	Q55K	possibly damaging	Het
Jph4	G	T	14: 55,114,103	A152E	probably damaging	Het
Kcnq3	T	C	15: 66,025,260	T264A	probably damaging	Het
Kcnq5	T	G	1: 21,457,461	T463P	probably damaging	Het
Klra8	A	G	6: 130,119,018	S204P	probably damaging	Het
Ldlrad1	A	G	4: 107,214,875	D98G	probably damaging	Het
Lhfpl4	T	C	6: 113,194,136	T30A	possibly damaging	Het
Lig1	T	A	7: 13,285,340	L80Q	probably damaging	Het
Lmbrd2	A	G	15: 9,186,612	Y558C	probably benign	Het
Lrrn3	G	T	12: 41,452,993	L442I	possibly damaging	Het
Mc2r	A	G	18: 68,407,448	F258S	probably damaging	Het
Mmp16	A	G	4: 18,011,582	T137A	probably benign	Het
Nfatc2ip	A	T	7: 126,387,407	S359T	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1193	A	T	2: 88,678,574	K233*	probably null	Het
Olfr1229	T	C	2: 89,282,821	H104R	probably damaging	Het
Olfr514	T	A	7: 108,825,924	H25L	probably benign	Het
Olfr904	C	T	9: 38,464,631	L197F	probably damaging	Het
Plagl1	C	T	10: 13,128,962		probably benign	Het
Plxnb2	A	T	15: 89,158,493	S1531T	probably damaging	Het
Ptpn22	G	A	3: 103,902,196		probably null	Het
Rtn1	T	A	12: 72,219,279	Q174L	possibly damaging	Het
Selenoo	A	G	15: 89,099,916	E645G	probably benign	Het
Serpina1a	A	C	12: 103,853,837	D383E	possibly damaging	Het
Slc6a18	T	A	13: 73,668,225	Y345F	probably benign	Het
Smbd1	A	G	16: 32,806,765	V51A	possibly damaging	Het
Tchh	C	T	3: 93,444,839	R529W	unknown	Het
Tmem206	A	G	1: 191,345,065	D195G	probably benign	Het
Tonsl	A	T	15: 76,638,557	Y165N	probably damaging	Het
Trdmt1	G	A	2: 13,516,059	T344I	probably damaging	Het
Ubash3b	C	A	9: 41,043,500	R116L	probably damaging	Het
Vmn2r94	A	G	17: 18,243,733	V765A	probably damaging	Het
Zfp474	C	T	18: 52,638,365	T30I	probably benign	Het

Other mutations in Chpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0659:Chpf	UTSW	1	75477723	missense	probably damaging	0.98
R0789:Chpf	UTSW	1	75475763	missense	probably damaging	1.00
R2384:Chpf	UTSW	1	75475109	missense	probably benign
R3937:Chpf	UTSW	1	75477540	missense	probably damaging	0.99
R4518:Chpf	UTSW	1	75475045	missense	probably damaging	1.00
R5336:Chpf	UTSW	1	75475707	missense	possibly damaging	0.96
R5859:Chpf	UTSW	1	75475428	missense	probably damaging	0.99
R6152:Chpf	UTSW	1	75475643	missense	possibly damaging	0.94
R7304:Chpf	UTSW	1	75479054	missense	possibly damaging	0.82
R7396:Chpf	UTSW	1	75475283	missense	probably benign	0.02
R7440:Chpf	UTSW	1	75475601	missense	probably damaging	1.00
R7840:Chpf	UTSW	1	75476627	missense	probably damaging	1.00
R7843:Chpf	UTSW	1	75478287	unclassified	probably benign
R7891:Chpf	UTSW	1	75475295	missense	probably benign	0.00
R7952:Chpf	UTSW	1	75478942	missense	probably benign	0.00
R7979:Chpf	UTSW	1	75477260	nonsense	probably null
R8159:Chpf	UTSW	1	75478792	missense	probably null	1.00
R8399:Chpf	UTSW	1	75476220	missense	probably benign	0.10
R8960:Chpf	UTSW	1	75475754	missense	probably damaging	1.00
R9453:Chpf	UTSW	1	75476210	missense	probably benign	0.23
Z1176:Chpf	UTSW	1	75475458	missense	probably benign	0.08
Z1176:Chpf	UTSW	1	75475470	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGGTCAAAGCCCTGGCAGTG -3'
(R):5'- CCTCTGAGGCAGCTTTCACAGATG -3'

Sequencing Primer
(F):5'- GGGTTTGCTCTATGACTCTATCAC -3'
(R):5'- TGACTTTCCAAGTCCATAACTGG -3'

Posted On

2014-04-24