Mutagenetix > Incidental Mutation

Incidental Mutation 'R0659:Chpf'

218688

Institutional Source

Beutler Lab

Gene Symbol

Chpf

Ensembl Gene

ENSMUSG00000032997

Gene Name

chondroitin polymerizing factor

Synonyms

1700028N03Rik, D1Bwg1363e

MMRRC Submission

038844-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0659 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75451213-75455951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75454367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 137 (V137A)

Ref Sequence

ENSEMBL: ENSMUSP00000078199 (fasta)

Gene Model

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

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: V137A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: V137A

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

SMART Domains

Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997

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

noncoding transcript
Transcript: ENSMUST00000143496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156499

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: 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

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

Meta Mutation Damage Score

0.3255

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

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
Adamts19	A	G	18: 59,140,565 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,992,366 (GRCm39)	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,874,173 (GRCm39)	V591A	probably damaging	Het
Apol7c	A	G	15: 77,410,473 (GRCm39)	S158P	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,322,067 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,587,452 (GRCm39)		probably benign	Het
Cep78	C	T	19: 15,933,554 (GRCm39)	V675M	probably damaging	Het
Ces4a	T	C	8: 105,871,554 (GRCm39)		probably benign	Het
Comp	T	C	8: 70,831,751 (GRCm39)	S457P	possibly damaging	Het
Cth	A	G	3: 157,625,752 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,733,563 (GRCm39)	L314P	probably damaging	Het
Ets1	C	T	9: 32,649,589 (GRCm39)	R309C	probably damaging	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gm9875	T	G	2: 13,562,995 (GRCm39)	F108V	unknown	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Greb1	T	C	12: 16,730,213 (GRCm39)	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,086,850 (GRCm39)	V70E	probably damaging	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hsd17b3	T	C	13: 64,221,750 (GRCm39)	T92A	possibly damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Lin28a	T	C	4: 133,735,410 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,305,244 (GRCm39)	S58G	probably damaging	Het
Mmp21	G	A	7: 133,279,396 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Mto1	C	T	9: 78,378,072 (GRCm39)	T638M	probably damaging	Het
Mto1	T	A	9: 78,364,790 (GRCm39)	I343N	probably damaging	Het
Myo18b	T	C	5: 112,908,193 (GRCm39)	K2027E	possibly damaging	Het
Myo7a	T	C	7: 97,703,545 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,256,703 (GRCm39)	I107T	probably damaging	Het
Or5k17	C	A	16: 58,746,772 (GRCm39)	R54L	possibly damaging	Het
Or8g37	T	G	9: 39,731,112 (GRCm39)	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,258,767 (GRCm39)	S268P	probably damaging	Het
Pih1d1	T	A	7: 44,809,399 (GRCm39)	S289T	probably benign	Het
Pik3c2b	A	G	1: 132,998,938 (GRCm39)	D353G	probably damaging	Het
Ppef2	A	G	5: 92,378,368 (GRCm39)	L609P	probably damaging	Het
Prune2	A	T	19: 17,100,199 (GRCm39)	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,612,444 (GRCm39)	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,741,068 (GRCm39)	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,918,121 (GRCm39)	K582E	probably benign	Het
Sult1c2	A	T	17: 54,138,806 (GRCm39)	M257K	probably damaging	Het
Tasor2	T	C	13: 3,624,448 (GRCm39)	D1834G	probably damaging	Het
Tmem132d	A	G	5: 128,061,351 (GRCm39)	I417T	possibly damaging	Het
Tmem229b	T	C	12: 79,011,908 (GRCm39)	T8A	probably benign	Het
Tmem237	T	C	1: 59,153,253 (GRCm39)	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,137,683 (GRCm39)	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,831,485 (GRCm39)	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,605,122 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,828,217 (GRCm39)	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,311,258 (GRCm39)	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,574,964 (GRCm39)	C395S	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zranb2	A	G	3: 157,247,400 (GRCm39)	S193G	probably benign	Het

Other mutations in Chpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7891:Chpf	UTSW	1	75,451,939 (GRCm39)	missense	probably benign	0.00
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'- CAAAGTCATCGCCGTGTTGCTC -3'
(R):5'- CATCTGCCTTGGAAGTGCTGTCTC -3'

Sequencing Primer
(F):5'- GTTGCTCCAGCAGGTGG -3'
(R):5'- GATGCAACACTTTCTGTGAGACC -3'

Posted On

2014-08-20