Mutagenetix > Incidental Mutation

Incidental Mutation 'R7891:Chpf'

609309

Institutional Source

Beutler Lab

Gene Symbol

Chpf

Ensembl Gene

ENSMUSG00000032997

Gene Name

chondroitin polymerizing factor

Synonyms

1700028N03Rik, D1Bwg1363e

MMRRC Submission

045943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75451213-75455951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75451939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 667 (H667R)

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 benign
Transcript: ENSMUST00000079205
AA Change: H667R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: H667R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094818
AA Change: H505R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
AA Change: H505R

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

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	G	2: 164,920,864 (GRCm39)	E56D	unknown	Het
9930111J21Rik2	T	C	11: 48,910,543 (GRCm39)	Q630R	probably benign	Het
Abca9	A	G	11: 110,054,098 (GRCm39)	V68A	probably benign	Het
Acnat1	G	A	4: 49,449,181 (GRCm39)	A195V	possibly damaging	Het
Acsl3	C	T	1: 78,681,305 (GRCm39)	A612V	probably benign	Het
Adam12	A	T	7: 133,599,961 (GRCm39)	D115E	probably benign	Het
Adam3	T	A	8: 25,197,513 (GRCm39)		probably null	Het
Aif1	G	A	17: 35,391,600 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,824,139 (GRCm39)	D154G	probably damaging	Het
Arid3b	A	G	9: 57,717,442 (GRCm39)	C233R	probably benign	Het
Ccdc7b	T	A	8: 129,799,146 (GRCm39)	D74E	unknown	Het
Cckbr	T	A	7: 105,084,557 (GRCm39)	D430E	probably benign	Het
Dnah8	A	G	17: 30,931,263 (GRCm39)	E1426G	probably benign	Het
Dync1h1	A	G	12: 110,609,590 (GRCm39)	I2791V	probably benign	Het
Ehd3	A	G	17: 74,123,387 (GRCm39)	N130S	probably benign	Het
Fgfr4	A	G	13: 55,306,964 (GRCm39)	T218A	probably benign	Het
Foxe1	G	A	4: 46,344,599 (GRCm39)	E136K	possibly damaging	Het
Frmpd1	A	G	4: 45,284,478 (GRCm39)	S1100G	probably benign	Het
Gask1b	G	A	3: 79,793,591 (GRCm39)	A20T	probably benign	Het
Gm21886	T	G	18: 80,132,972 (GRCm39)	Q62P	probably null	Het
Golga4	A	G	9: 118,385,434 (GRCm39)	E852G	probably damaging	Het
Gprin3	T	C	6: 59,330,696 (GRCm39)	D537G	probably benign	Het
Gpx5	C	A	13: 21,472,918 (GRCm39)	D139Y	probably damaging	Het
Hmcn1	T	C	1: 150,468,940 (GRCm39)	Y5007C	probably damaging	Het
Igsf10	G	A	3: 59,235,832 (GRCm39)	R1450*	probably null	Het
Kif21a	G	A	15: 90,840,517 (GRCm39)	P1200S	probably damaging	Het
Kmt2c	G	A	5: 25,505,109 (GRCm39)	R3400C	probably damaging	Het
Miox	A	C	15: 89,220,742 (GRCm39)	M216L	probably benign	Het
Mphosph9	T	C	5: 124,428,967 (GRCm39)	Y687C	probably damaging	Het
Mxi1	T	A	19: 53,299,192 (GRCm39)	V21D	probably benign	Het
Nbeal1	T	C	1: 60,299,591 (GRCm39)	L1309P	probably benign	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10ag54	A	T	2: 87,099,421 (GRCm39)	T99S	possibly damaging	Het
Or13c25	C	T	4: 52,911,663 (GRCm39)	V44I	probably benign	Het
Or4c100	G	A	2: 88,356,289 (GRCm39)	V121I	probably benign	Het
Or7g22	T	C	9: 19,049,141 (GRCm39)	M284T	possibly damaging	Het
Polq	A	G	16: 36,848,244 (GRCm39)	T284A	probably damaging	Het
Polrmt	A	T	10: 79,577,714 (GRCm39)	M295K	probably damaging	Het
Pou2af1	G	T	9: 51,144,297 (GRCm39)	M70I	probably damaging	Het
Pou3f1	G	A	4: 124,552,232 (GRCm39)	E245K	probably damaging	Het
Psmb1	C	T	17: 15,714,748 (GRCm39)	V50I	probably benign	Het
Ptgis	T	C	2: 167,069,434 (GRCm39)	D50G	probably damaging	Het
R3hdm2	A	G	10: 127,334,443 (GRCm39)	I955M	probably benign	Het
Rasef	G	A	4: 73,677,935 (GRCm39)	T97I	probably benign	Het
Rasef	T	C	4: 73,709,201 (GRCm39)	T11A	probably benign	Het
Sema4c	C	A	1: 36,588,995 (GRCm39)	L710F	probably damaging	Het
Slc39a10	C	T	1: 46,851,328 (GRCm39)	A721T	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,139 (GRCm39)	C1330R	possibly damaging	Het
Susd1	T	C	4: 59,349,915 (GRCm39)	D560G	possibly damaging	Het
Tnfrsf1b	T	C	4: 144,955,660 (GRCm39)	Y32C	probably damaging	Het
Trhr2	C	A	8: 123,084,083 (GRCm39)	V306F	probably damaging	Het
Trpm6	A	T	19: 18,754,074 (GRCm39)	Q35L	probably benign	Het
Ttbk2	A	G	2: 120,616,510 (GRCm39)	S197P	probably damaging	Het
Uggt2	T	A	14: 119,280,059 (GRCm39)	E806D	probably benign	Het
Ushbp1	T	G	8: 71,841,422 (GRCm39)	Q469P	possibly damaging	Het
Vmn1r73	G	A	7: 11,491,036 (GRCm39)	V285I	possibly damaging	Het
Zfp934	A	C	13: 62,668,003 (GRCm39)	S63R	probably benign	Het

Other mutations in Chpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0659:Chpf	UTSW	1	75,454,367 (GRCm39)	missense	probably damaging	0.98
R0789:Chpf	UTSW	1	75,452,407 (GRCm39)	missense	probably damaging	1.00
R1610:Chpf	UTSW	1	75,453,292 (GRCm39)	missense	probably damaging	1.00
R2384:Chpf	UTSW	1	75,451,753 (GRCm39)	missense	probably benign
R3937:Chpf	UTSW	1	75,454,184 (GRCm39)	missense	probably damaging	0.99
R4518:Chpf	UTSW	1	75,451,689 (GRCm39)	missense	probably damaging	1.00
R5336:Chpf	UTSW	1	75,452,351 (GRCm39)	missense	possibly damaging	0.96
R5859:Chpf	UTSW	1	75,452,072 (GRCm39)	missense	probably damaging	0.99
R6152:Chpf	UTSW	1	75,452,287 (GRCm39)	missense	possibly damaging	0.94
R7304:Chpf	UTSW	1	75,455,698 (GRCm39)	missense	possibly damaging	0.82
R7396:Chpf	UTSW	1	75,451,927 (GRCm39)	missense	probably benign	0.02
R7440:Chpf	UTSW	1	75,452,245 (GRCm39)	missense	probably damaging	1.00
R7840:Chpf	UTSW	1	75,453,271 (GRCm39)	missense	probably damaging	1.00
R7843:Chpf	UTSW	1	75,454,931 (GRCm39)	unclassified	probably benign
R7952:Chpf	UTSW	1	75,455,586 (GRCm39)	missense	probably benign	0.00
R7979:Chpf	UTSW	1	75,453,904 (GRCm39)	nonsense	probably null
R8159:Chpf	UTSW	1	75,455,436 (GRCm39)	missense	probably null	1.00
R8399:Chpf	UTSW	1	75,452,864 (GRCm39)	missense	probably benign	0.10
R8960:Chpf	UTSW	1	75,452,398 (GRCm39)	missense	probably damaging	1.00
R9453:Chpf	UTSW	1	75,452,854 (GRCm39)	missense	probably benign	0.23
Z1176:Chpf	UTSW	1	75,452,114 (GRCm39)	missense	probably damaging	1.00
Z1176:Chpf	UTSW	1	75,452,102 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AAAGGTCTTCACTGAGCCGTG -3'
(R):5'- AGACACTCTGTTCCTGCTGG -3'

Sequencing Primer
(F):5'- TTCACTGAGCCGTGCACTG -3'
(R):5'- TGTTCCTGCTGGCCGGG -3'

Posted On

2019-12-20