Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01133:Cfap36'

52359

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap36

Ensembl Gene

ENSMUSG00000020462

Gene Name

cilia and flagella associated protein 36

Synonyms

4931428D14Rik, Ccdc104

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01133

Quality Score

Status

Chromosome

Chromosomal Location

29171532-29197409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 29184414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 114 (V114G)

Ref Sequence

ENSEMBL: ENSMUSP00000020754 (fasta)

Gene Model

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

AlphaFold

Q8C6E0

Predicted Effect

probably damaging
Transcript: ENSMUST00000020754
AA Change: V114G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020754
Gene: ENSMUSG00000020462
AA Change: V114G

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 damaging
Transcript: ENSMUST00000134599
AA Change: V103G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118938
Gene: ENSMUSG00000020462
AA Change: V103G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141862

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adam4	T	C	12: 81,468,220 (GRCm39)	T134A	possibly damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Cartpt	T	G	13: 100,036,548 (GRCm39)	I67L	probably benign	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ccer1	T	C	10: 97,530,401 (GRCm39)	F355L	probably benign	Het
Cert1	A	G	13: 96,751,310 (GRCm39)	E320G	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cfap299	T	C	5: 98,646,240 (GRCm39)		probably null	Het
Cyp2b9	G	A	7: 25,909,660 (GRCm39)	G476D	probably damaging	Het
Eif3l	T	C	15: 78,961,120 (GRCm39)	Y58H	possibly damaging	Het
Gapvd1	T	C	2: 34,615,410 (GRCm39)	Y411C	probably damaging	Het
Gm27029	G	T	11: 101,302,786 (GRCm39)	F236L	possibly damaging	Het
Golga1	T	C	2: 38,913,484 (GRCm39)	T501A	probably benign	Het
Heg1	C	T	16: 33,547,657 (GRCm39)	H815Y	probably benign	Het
Krt1	A	T	15: 101,756,628 (GRCm39)	D298E	probably damaging	Het
Mecr	T	A	4: 131,570,907 (GRCm39)	S32T	probably benign	Het
Med1	A	T	11: 98,048,812 (GRCm39)	Y661*	probably null	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Pla2g12b	G	T	10: 59,252,239 (GRCm39)	A37S	probably benign	Het
Plekha7	G	T	7: 115,744,476 (GRCm39)		probably null	Het
Ralgapa1	T	C	12: 55,689,133 (GRCm39)	I1989V	probably damaging	Het
Ralgapa1	T	C	12: 55,689,144 (GRCm39)	H1938R	probably damaging	Het
Sanbr	A	T	11: 23,545,434 (GRCm39)	D486E	probably damaging	Het
Sec31b	A	G	19: 44,515,480 (GRCm39)	F309S	probably damaging	Het
Serpina3a	T	C	12: 104,087,758 (GRCm39)	I227T	probably benign	Het
Slc1a3	A	G	15: 8,675,171 (GRCm39)	I278T	probably damaging	Het
Slc1a3	T	C	15: 8,680,477 (GRCm39)	Y127C	probably damaging	Het
Spen	T	C	4: 141,217,212 (GRCm39)	K449R	unknown	Het
Thoc2l	A	G	5: 104,665,528 (GRCm39)	T17A	probably benign	Het
Tmem130	A	G	5: 144,689,255 (GRCm39)	S129P	probably damaging	Het
Trim68	A	T	7: 102,328,348 (GRCm39)		probably null	Het
Vdac3-ps1	T	C	13: 18,206,034 (GRCm39)		noncoding transcript	Het
Vmn2r75	A	G	7: 85,797,240 (GRCm39)		probably benign	Het
Zbtb9	G	T	17: 27,193,985 (GRCm39)		probably benign	Het
Zfp568	T	A	7: 29,687,233 (GRCm39)		probably null	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
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
R4276:Cfap36	UTSW	11	29,180,584 (GRCm39)	critical splice donor site	probably null
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

Posted On

2013-06-21