Mutagenetix > Incidental Mutation

Incidental Mutation 'R4276:Cfap36'

377780

Institutional Source

Beutler Lab

Gene Symbol

Cfap36

Ensembl Gene

ENSMUSG00000020462

Gene Name

cilia and flagella associated protein 36

Synonyms

4931428D14Rik, Ccdc104

MMRRC Submission

041647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29171532-29197409 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 29180584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020754] [ENSMUST00000134599]

AlphaFold

Q8C6E0

Predicted Effect

probably null
Transcript: ENSMUST00000020754

SMART Domains

Protein: ENSMUSP00000020754
Gene: ENSMUSG00000020462

Domain	Start	End	E-Value	Type
Pfam:ARL2_Bind_BART	8	122	3.8e-43	PFAM
coiled coil region	147	188	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134599

SMART Domains

Protein: ENSMUSP00000118938
Gene: ENSMUSG00000020462

Domain	Start	End	E-Value	Type
Pfam:ARL2_Bind_BART	6	111	4.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141862

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	C	A	9: 26,889,745 (GRCm39)	Q316H	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,481,833 (GRCm39)	D101G	possibly damaging	Het
Chrnb3	A	G	8: 27,883,779 (GRCm39)	N172S	probably damaging	Het
Csnk1e	T	C	15: 79,313,967 (GRCm39)	N37S	probably damaging	Het
Ern1	T	C	11: 106,298,007 (GRCm39)	I705V	probably benign	Het
Gimap8	T	C	6: 48,636,017 (GRCm39)	M594T	probably benign	Het
Gm6578	G	A	6: 12,100,187 (GRCm39)		noncoding transcript	Het
Gpc6	A	G	14: 117,673,328 (GRCm39)	D195G	probably damaging	Het
Gpcpd1	T	C	2: 132,382,207 (GRCm39)	K412E	probably damaging	Het
Insm1	C	A	2: 146,064,888 (GRCm39)	H235N	probably benign	Het
Jmjd8	A	G	17: 26,048,787 (GRCm39)		probably benign	Het
Kbtbd8	T	C	6: 95,103,914 (GRCm39)	V521A	probably damaging	Het
Kcna5	T	C	6: 126,510,329 (GRCm39)	T600A	probably damaging	Het
Kctd6	G	C	14: 8,222,806 (GRCm38)	R216P	probably damaging	Het
Lbx1	C	A	19: 45,223,528 (GRCm39)	V47L	probably benign	Het
Mefv	A	T	16: 3,533,433 (GRCm39)	N279K	probably benign	Het
Mroh1	T	G	15: 76,278,051 (GRCm39)	V24G	probably damaging	Het
Nt5c1b	A	G	12: 10,424,886 (GRCm39)	E142G	probably damaging	Het
Or4f4b	G	T	2: 111,313,849 (GRCm39)	V25L	probably damaging	Het
Or8u3-ps	G	A	2: 85,952,623 (GRCm39)	A119T	probably damaging	Het
Padi2	A	G	4: 140,663,859 (GRCm39)	E404G	possibly damaging	Het
Pitpnb	A	G	5: 111,519,258 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,177,883 (GRCm39)	N1006S	probably benign	Het
Proc	A	G	18: 32,268,967 (GRCm39)	V6A	probably benign	Het
Prrc2c	T	A	1: 162,501,160 (GRCm39)	K1214N	probably damaging	Het
Pstpip2	A	G	18: 77,949,556 (GRCm39)	I122V	probably benign	Het
Pus10	A	G	11: 23,656,895 (GRCm39)	E207G	probably damaging	Het
Rabl2	G	A	15: 89,468,391 (GRCm39)		probably benign	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Rtl6	T	A	15: 84,441,397 (GRCm39)		probably benign	Het
Scn7a	T	G	2: 66,514,407 (GRCm39)	K1122N	probably damaging	Het
Spag16	A	G	1: 69,912,640 (GRCm39)		probably benign	Het
Spata13	C	T	14: 60,993,745 (GRCm39)	R396C	probably damaging	Het
Stmn4	A	T	14: 66,593,166 (GRCm39)		probably benign	Het
Syp	G	T	X: 7,504,931 (GRCm39)		probably benign	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Tnrc6b	A	G	15: 80,786,172 (GRCm39)	I1239V	probably benign	Het
Ubr3	C	T	2: 69,768,731 (GRCm39)	Q510*	probably null	Het
Vegfa	A	G	17: 46,342,392 (GRCm39)	V142A	probably benign	Het
Vmn2r93	T	C	17: 18,525,092 (GRCm39)	I250T	possibly damaging	Het

Other mutations in Cfap36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Cfap36	APN	11	29,172,875 (GRCm39)	missense	probably benign	0.01
IGL01133:Cfap36	APN	11	29,184,414 (GRCm39)	missense	probably damaging	1.00
IGL01599:Cfap36	APN	11	29,194,057 (GRCm39)	critical splice donor site	probably null
IGL02398:Cfap36	APN	11	29,172,833 (GRCm39)	missense	probably benign
IGL02698:Cfap36	APN	11	29,197,014 (GRCm39)	critical splice donor site	probably null
R0049:Cfap36	UTSW	11	29,196,514 (GRCm39)	critical splice donor site	probably null
R0137:Cfap36	UTSW	11	29,172,431 (GRCm39)	unclassified	probably benign
R0138:Cfap36	UTSW	11	29,194,073 (GRCm39)	missense	probably benign	0.01
R2055:Cfap36	UTSW	11	29,197,122 (GRCm39)	missense	probably damaging	1.00
R4816:Cfap36	UTSW	11	29,195,108 (GRCm39)	missense	probably damaging	1.00
R7026:Cfap36	UTSW	11	29,172,565 (GRCm39)	missense	probably benign	0.00
R7339:Cfap36	UTSW	11	29,175,925 (GRCm39)	missense	probably benign
R9169:Cfap36	UTSW	11	29,196,541 (GRCm39)	missense	probably benign	0.05
X0062:Cfap36	UTSW	11	29,197,132 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAATTTTCTGGTTAGGGTTGCTCATC -3'
(R):5'- CTAATTTGTACCCATGGTCCATAAC -3'

Sequencing Primer
(F):5'- ATCTGTGATCTGTGCAAGTATTCC -3'
(R):5'- GTACCCATGGTCCATAACAGTGTG -3'

Posted On

2016-04-06