Mutagenetix > Incidental Mutation

Incidental Mutation 'R5481:Chpf2'

434314

Institutional Source

Beutler Lab

Gene Symbol

Chpf2

Ensembl Gene

ENSMUSG00000038181

Gene Name

chondroitin polymerizing factor 2

Synonyms

2010209O12Rik

MMRRC Submission

043042-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5481 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24791739-24799554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24794340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 170 (H170L)

Ref Sequence

ENSEMBL: ENSMUSP00000112804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030791] [ENSMUST00000088295] [ENSMUST00000121863] [ENSMUST00000195943] [ENSMUST00000197318]

AlphaFold

Q3UU43

Predicted Effect

probably benign
Transcript: ENSMUST00000030791

SMART Domains

Protein: ENSMUSP00000030791
Gene: ENSMUSG00000028949

Domain	Start	End	E-Value	Type
low complexity region	40	55	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
Blast:KISc	103	239	5e-41	BLAST
SWIB	259	338	3.6e-29	SMART
Blast:MYSc	420	466	1e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000088295
AA Change: H170L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000085633
Gene: ENSMUSG00000038181
AA Change: H170L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	143	298	3.2e-11	PFAM
Pfam:CHGN	242	755	1.7e-144	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102432

Predicted Effect

probably damaging
Transcript: ENSMUST00000121863
AA Change: H170L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112804
Gene: ENSMUSG00000038181
AA Change: H170L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	143	298	3.2e-11	PFAM
Pfam:CHGN	242	755	3e-176	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144995

Predicted Effect

probably benign
Transcript: ENSMUST00000195943

SMART Domains

Protein: ENSMUSP00000143437
Gene: ENSMUSG00000028949

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
low complexity region	43	60	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Blast:KISc	74	210	2e-41	BLAST
SWIB	230	309	2.3e-31	SMART
Blast:MYSc	391	437	8e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000197318

SMART Domains

Protein: ENSMUSP00000143185
Gene: ENSMUSG00000038181

Domain	Start	End	E-Value	Type
Pfam:CHGN	1	74	7.5e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197566

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 95.1%
20x: 90.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,759 (GRCm39)	S187P	probably damaging	Het
Aass	C	A	6: 23,113,475 (GRCm39)	V282L	probably benign	Het
Adh6a	G	T	3: 138,031,719 (GRCm39)	V204F	probably damaging	Het
Adrm1b	A	G	3: 92,336,658 (GRCm39)	S15P	possibly damaging	Het
Aspm	A	G	1: 139,384,799 (GRCm39)	K148E	possibly damaging	Het
Atp12a	A	T	14: 56,610,846 (GRCm39)	D330V	possibly damaging	Het
Barhl1	A	G	2: 28,805,352 (GRCm39)	Y114H	probably damaging	Het
BC106179	T	A	16: 23,042,918 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,570,900 (GRCm39)	L792P	probably benign	Het
Calcoco2	A	G	11: 95,998,369 (GRCm39)	V18A	probably damaging	Het
Chrna1	T	A	2: 73,397,270 (GRCm39)	I340F	possibly damaging	Het
Ckap5	A	T	2: 91,402,792 (GRCm39)	I690F	possibly damaging	Het
Col10a1	A	G	10: 34,271,660 (GRCm39)	H544R	probably benign	Het
Cyp2b19	A	C	7: 26,466,246 (GRCm39)	T350P	probably damaging	Het
Dgkq	A	G	5: 108,796,676 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,030,828 (GRCm39)	V443A	possibly damaging	Het
Erbb3	T	C	10: 128,408,349 (GRCm39)	D855G	probably damaging	Het
Fam3c	T	C	6: 22,321,357 (GRCm39)	D138G	probably benign	Het
Fen1	A	G	19: 10,178,022 (GRCm39)	C141R	probably damaging	Het
Flnc	G	A	6: 29,441,216 (GRCm39)	G390D	probably damaging	Het
Fnip1	C	A	11: 54,393,470 (GRCm39)	D635E	probably benign	Het
Fry	A	T	5: 150,183,784 (GRCm39)	L17F	probably benign	Het
Fsip2	T	C	2: 82,810,230 (GRCm39)	I2183T	probably benign	Het
Gfpt1	T	A	6: 87,027,951 (GRCm39)	I19N	probably damaging	Het
Hus1b	T	C	13: 31,130,942 (GRCm39)	D239G	probably benign	Het
Kif1a	T	C	1: 92,987,966 (GRCm39)	K546R	probably benign	Het
Kmt2d	A	G	15: 98,759,886 (GRCm39)	V1124A	unknown	Het
Krtap16-1	A	G	11: 99,876,153 (GRCm39)	I417T	probably damaging	Het
Manba	A	T	3: 135,230,317 (GRCm39)	N297Y	possibly damaging	Het
Mblac1	A	G	5: 138,193,078 (GRCm39)	D140G	probably damaging	Het
Mlh1	T	C	9: 111,058,905 (GRCm39)		probably null	Het
Morc1	T	A	16: 48,381,848 (GRCm39)		probably null	Het
Morc3	C	A	16: 93,659,543 (GRCm39)	P449Q	probably damaging	Het
Mtr	T	C	13: 12,203,041 (GRCm39)		probably null	Het
Mylk	T	A	16: 34,741,974 (GRCm39)	C829S	probably benign	Het
Myo1d	A	G	11: 80,553,921 (GRCm39)	I520T	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nos1	A	T	5: 118,005,819 (GRCm39)	I180F	probably benign	Het
Ntsr1	C	T	2: 180,183,313 (GRCm39)	T341M	possibly damaging	Het
Or8b51	A	T	9: 38,568,916 (GRCm39)	F257L	probably benign	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Peli2	C	A	14: 48,490,090 (GRCm39)	N136K	probably damaging	Het
Pigt	C	A	2: 164,348,342 (GRCm39)	P429H	probably damaging	Het
Pik3r2	T	C	8: 71,222,408 (GRCm39)	I515V	probably benign	Het
Pkhd1l1	A	G	15: 44,422,042 (GRCm39)	Y3104C	probably damaging	Het
Ppp1r16a	A	C	15: 76,575,221 (GRCm39)	E43A	probably damaging	Het
Ptpn18	T	C	1: 34,510,744 (GRCm39)	L260P	possibly damaging	Het
Scaf11	A	T	15: 96,318,498 (GRCm39)	S355R	probably damaging	Het
Sema4a	A	T	3: 88,360,347 (GRCm39)	Y77*	probably null	Het
Serpinb9b	T	C	13: 33,222,076 (GRCm39)	V230A	possibly damaging	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc22a30	T	C	19: 8,314,201 (GRCm39)	N495S	probably benign	Het
Srcap	G	A	7: 127,131,369 (GRCm39)	G836D	probably damaging	Het
Stard4	A	C	18: 33,338,298 (GRCm39)	C137W	probably benign	Het
Stat6	A	G	10: 127,483,695 (GRCm39)		probably null	Het
Steap3	T	C	1: 120,169,454 (GRCm39)	D243G	probably benign	Het
Taf1c	A	G	8: 120,325,979 (GRCm39)	S628P	probably damaging	Het
Unkl	C	T	17: 25,420,146 (GRCm39)	Q13*	probably null	Het
Usp38	A	G	8: 81,719,952 (GRCm39)	S426P	possibly damaging	Het
Vmn2r8	T	C	5: 108,949,636 (GRCm39)	T404A	probably benign	Het
Washc1	T	C	17: 66,425,860 (GRCm39)	V425A	probably benign	Het
Zfyve9	A	G	4: 108,501,546 (GRCm39)	I590T	probably damaging	Het

Other mutations in Chpf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Chpf2	APN	5	24,797,259 (GRCm39)	missense	probably damaging	1.00
IGL02110:Chpf2	APN	5	24,796,710 (GRCm39)	missense	probably damaging	1.00
IGL02625:Chpf2	APN	5	24,796,709 (GRCm39)	nonsense	probably null
IGL02673:Chpf2	APN	5	24,796,302 (GRCm39)	missense	probably benign	0.21
Aloof	UTSW	5	24,794,646 (GRCm39)	missense	possibly damaging	0.61
sine_nobilitate	UTSW	5	24,795,310 (GRCm39)	nonsense	probably null
stuffy	UTSW	5	24,795,425 (GRCm39)	missense	probably damaging	1.00
R0545:Chpf2	UTSW	5	24,795,322 (GRCm39)	missense	possibly damaging	0.89
R0571:Chpf2	UTSW	5	24,795,425 (GRCm39)	missense	probably damaging	1.00
R0732:Chpf2	UTSW	5	24,795,419 (GRCm39)	start codon destroyed	probably null	0.94
R1196:Chpf2	UTSW	5	24,794,646 (GRCm39)	missense	possibly damaging	0.61
R2051:Chpf2	UTSW	5	24,796,274 (GRCm39)	missense	probably benign	0.00
R2057:Chpf2	UTSW	5	24,796,220 (GRCm39)	missense	probably damaging	1.00
R2147:Chpf2	UTSW	5	24,797,033 (GRCm39)	missense	probably damaging	1.00
R3719:Chpf2	UTSW	5	24,795,310 (GRCm39)	nonsense	probably null
R4168:Chpf2	UTSW	5	24,796,788 (GRCm39)	missense	possibly damaging	0.86
R4632:Chpf2	UTSW	5	24,796,829 (GRCm39)	missense	probably benign
R5278:Chpf2	UTSW	5	24,793,088 (GRCm39)	intron	probably benign
R5853:Chpf2	UTSW	5	24,797,190 (GRCm39)	missense	probably damaging	1.00
R5914:Chpf2	UTSW	5	24,797,421 (GRCm39)	unclassified	probably benign
R6010:Chpf2	UTSW	5	24,796,917 (GRCm39)	missense	probably damaging	1.00
R6340:Chpf2	UTSW	5	24,796,773 (GRCm39)	missense	probably damaging	0.98
R6463:Chpf2	UTSW	5	24,794,524 (GRCm39)	missense	probably damaging	1.00
R8012:Chpf2	UTSW	5	24,795,343 (GRCm39)	missense	probably damaging	0.98
R8506:Chpf2	UTSW	5	24,793,295 (GRCm39)	missense	probably damaging	1.00
R8748:Chpf2	UTSW	5	24,796,821 (GRCm39)	missense	probably damaging	1.00
R9249:Chpf2	UTSW	5	24,794,235 (GRCm39)	missense	probably damaging	1.00
R9354:Chpf2	UTSW	5	24,796,392 (GRCm39)	missense	probably damaging	1.00
Z1177:Chpf2	UTSW	5	24,796,517 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CGGTATATACAGACAGAGCTGG -3'
(R):5'- AGACTCCGTGACAACAGGTAG -3'

Sequencing Primer
(F):5'- GACTTCTCGAGCCACACTG -3'
(R):5'- TCCGTGACAACAGGTAGCCAAAG -3'

Posted On

2016-10-06