Mutagenetix > Incidental Mutation

Incidental Mutation 'R3937:Chpf'

307198

Institutional Source

Beutler Lab

Gene Symbol

Chpf

Ensembl Gene

ENSMUSG00000032997

Gene Name

chondroitin polymerizing factor

Synonyms

1700028N03Rik, D1Bwg1363e

MMRRC Submission

040921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75451213-75455951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75454184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 198 (V198E)

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: V198E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: V198E

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: V36E

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
AA Change: V36E

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
AA Change: S105R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117253
Gene: ENSMUSG00000032997
AA Change: S105R

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: 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

0.7012

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	G	4: 148,026,510 (GRCm39)	S343R	possibly damaging	Het
Abca8b	G	T	11: 109,865,393 (GRCm39)	P355T	probably benign	Het
Abhd15	T	C	11: 77,406,764 (GRCm39)	V247A	probably benign	Het
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Cp	C	T	3: 20,025,198 (GRCm39)	P386S	probably damaging	Het
Cth	A	G	3: 157,625,677 (GRCm39)	I107T	possibly damaging	Het
Ctrc	T	C	4: 141,567,632 (GRCm39)	D157G	probably damaging	Het
D630003M21Rik	A	G	2: 158,042,280 (GRCm39)	Y889H	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Esyt3	A	T	9: 99,218,245 (GRCm39)	I130K	probably benign	Het
F13a1	A	T	13: 37,100,875 (GRCm39)	V423D	probably damaging	Het
Faf1	T	C	4: 109,614,889 (GRCm39)		probably benign	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Fastkd2	A	G	1: 63,776,995 (GRCm39)	D377G	possibly damaging	Het
Fbxl6	G	A	15: 76,420,824 (GRCm39)	R384*	probably null	Het
Fcamr	A	T	1: 130,732,313 (GRCm39)	H44L	probably damaging	Het
Fhod3	A	G	18: 25,223,818 (GRCm39)	N1055D	probably benign	Het
Garem1	A	T	18: 21,281,863 (GRCm39)	Y164*	probably null	Het
Gemin4	C	T	11: 76,103,714 (GRCm39)	C349Y	probably damaging	Het
Gnal	A	G	18: 67,268,441 (GRCm39)		probably null	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,855,727 (GRCm39)	V409A	probably benign	Het
Hps6	A	G	19: 45,992,492 (GRCm39)	E143G	probably damaging	Het
Hspa4	T	A	11: 53,161,776 (GRCm39)	I459L	probably benign	Het
Ighv3-6	G	A	12: 114,252,061 (GRCm39)	Q21*	probably null	Het
Ints3	G	A	3: 90,311,294 (GRCm39)	R438*	probably null	Het
Jmjd6	T	C	11: 116,731,991 (GRCm39)	N237D	probably benign	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga2	C	A	12: 67,267,980 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nalcn	T	A	14: 123,607,357 (GRCm39)	D704V	probably benign	Het
Nes	A	T	3: 87,878,543 (GRCm39)	M12L	probably benign	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or10al2	A	G	17: 37,983,858 (GRCm39)	T315A	probably benign	Het
Or2f1	T	A	6: 42,721,010 (GRCm39)	I13N	probably damaging	Het
Or5j3	T	A	2: 86,128,360 (GRCm39)	S67T	probably damaging	Het
Pcdha2	T	C	18: 37,074,376 (GRCm39)	V669A	probably benign	Het
Pdhx	T	C	2: 102,852,564 (GRCm39)	N433S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,124 (GRCm39)	R261G	probably damaging	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Ptpru	T	C	4: 131,501,615 (GRCm39)	N1207S	probably damaging	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rims2	A	G	15: 39,301,241 (GRCm39)	E324G	probably damaging	Het
Sema6d	A	T	2: 124,498,770 (GRCm39)	I227L	probably benign	Het
Smarcad1	T	G	6: 65,091,320 (GRCm39)	L1014V	probably damaging	Het
Spag9	T	G	11: 93,935,305 (GRCm39)	S39A	possibly damaging	Het
Spag9	T	C	11: 93,935,243 (GRCm39)	V18A	possibly damaging	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Tcea3	T	A	4: 135,982,454 (GRCm39)		probably benign	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn1r212	A	T	13: 23,067,358 (GRCm39)	V325E	unknown	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Vmn2r57	A	G	7: 41,077,554 (GRCm39)	M204T	probably damaging	Het
Wdfy3	A	T	5: 102,092,105 (GRCm39)	Y411*	probably null	Het
Zfp335	G	T	2: 164,752,620 (GRCm39)	D41E	probably damaging	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
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'- TACCTCGTGGTCACCAGTAC -3'
(R):5'- ACACCGACTGGAGCATGTAG -3'

Sequencing Primer
(F):5'- TTGCGGCAGCTTTCCAG -3'
(R):5'- AGCATGTAGTGTTCCTGACC -3'

Posted On

2015-04-17