Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00090:Cfap36'

1187

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 #

IGL00090

Quality Score

Status

Chromosome

Chromosomal Location

29171532-29197409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29172875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 217 (V217M)

Ref Sequence

ENSEMBL: ENSMUSP00000020754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020754] [ENSMUST00000020755]

AlphaFold

Q8C6E0

Predicted Effect

probably benign
Transcript: ENSMUST00000020754
AA Change: V217M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020754
Gene: ENSMUSG00000020462
AA Change: V217M

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: ENSMUST00000020755

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	2e-24	SMART
low complexity region	116	127	N/A	INTRINSIC
Pfam:SMK-1	168	359	3.6e-84	PFAM
low complexity region	511	519	N/A	INTRINSIC
low complexity region	800	809	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141862

Predicted Effect

probably benign
Transcript: ENSMUST00000148759

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,854,345 (GRCm39)	T857A	probably benign	Het
Abcc9	A	T	6: 142,578,916 (GRCm39)		probably benign	Het
Adam11	A	G	11: 102,667,657 (GRCm39)	T709A	probably benign	Het
Adgre1	A	G	17: 57,757,055 (GRCm39)	I771V	probably benign	Het
Adgrv1	T	G	13: 81,553,527 (GRCm39)		probably null	Het
Adgrv1	C	T	13: 81,726,220 (GRCm39)	D602N	probably damaging	Het
Adra1d	G	T	2: 131,403,597 (GRCm39)	D164E	possibly damaging	Het
Ago3	A	G	4: 126,265,334 (GRCm39)	L319P	probably damaging	Het
Aim2	A	G	1: 173,283,031 (GRCm39)	S38G	probably benign	Het
Apoh	A	G	11: 108,286,660 (GRCm39)	D28G	probably benign	Het
Atm	C	T	9: 53,435,743 (GRCm39)	R189K	probably damaging	Het
Bbs1	T	C	19: 4,943,038 (GRCm39)	T451A	probably benign	Het
BC034090	T	C	1: 155,101,193 (GRCm39)	D719G	possibly damaging	Het
Bcr	T	C	10: 74,992,903 (GRCm39)		probably benign	Het
Bmp2	A	T	2: 133,402,947 (GRCm39)	Q166L	probably benign	Het
Bms1	A	T	6: 118,381,544 (GRCm39)	S665T	probably benign	Het
Ccser1	A	T	6: 62,357,126 (GRCm39)	T855S	possibly damaging	Het
Clca3b	T	C	3: 144,542,393 (GRCm39)	N470D	probably damaging	Het
Cort	A	G	4: 149,209,752 (GRCm39)	F100S	probably damaging	Het
Cyp4f14	G	T	17: 33,133,540 (GRCm39)	D105E	probably benign	Het
Dnah1	A	G	14: 31,009,830 (GRCm39)	S1913P	probably benign	Het
Fam91a1	A	T	15: 58,302,584 (GRCm39)	H308L	probably damaging	Het
Fbn1	A	C	2: 125,166,867 (GRCm39)	I2016M	probably damaging	Het
Fibcd1	T	A	2: 31,723,886 (GRCm39)	Q251L	possibly damaging	Het
Flg2	T	A	3: 93,109,416 (GRCm39)	Y481*	probably null	Het
Ly9	A	T	1: 171,421,019 (GRCm39)	I624N	probably damaging	Het
Mapt	C	T	11: 104,213,311 (GRCm39)	S301L	probably damaging	Het
Meiob	G	A	17: 25,042,603 (GRCm39)	V144I	probably benign	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myo5a	T	A	9: 75,068,779 (GRCm39)	C660*	probably null	Het
Necab3	G	T	2: 154,389,488 (GRCm39)		probably benign	Het
Nr2c2ap	A	G	8: 70,585,279 (GRCm39)	Y93C	probably damaging	Het
Nxpe5	A	G	5: 138,247,096 (GRCm39)	D356G	probably benign	Het
Or10ak9	T	A	4: 118,726,484 (GRCm39)	Y168N	probably damaging	Het
Or2w25	A	T	11: 59,504,147 (GRCm39)	Y119F	possibly damaging	Het
Plce1	A	G	19: 38,734,232 (GRCm39)	Q1544R	probably damaging	Het
Plppr4	T	A	3: 117,115,869 (GRCm39)	T605S	probably benign	Het
Poglut1	C	A	16: 38,363,278 (GRCm39)	W167L	possibly damaging	Het
Pou2f1	G	T	1: 165,729,867 (GRCm39)	R162S	probably damaging	Het
Ptprf	A	G	4: 118,080,417 (GRCm39)		probably benign	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Rexo2	A	G	9: 48,385,747 (GRCm39)	S126P	probably damaging	Het
Robo4	A	G	9: 37,322,400 (GRCm39)	S844G	probably damaging	Het
Scn7a	A	G	2: 66,513,671 (GRCm39)		probably benign	Het
Sdc1	A	G	12: 8,840,459 (GRCm39)	T75A	possibly damaging	Het
Slc38a4	C	T	15: 96,917,690 (GRCm39)	E12K	probably benign	Het
Spata31h1	T	G	10: 82,119,586 (GRCm39)	M4475L	probably benign	Het
Tbck	T	C	3: 132,448,854 (GRCm39)		probably null	Het
Tex2	A	T	11: 106,459,361 (GRCm39)	V23E	probably damaging	Het
Zfp770	A	G	2: 114,026,413 (GRCm39)	V552A	probably benign	Het
Zfyve26	T	C	12: 79,296,234 (GRCm39)		probably benign	Het

Other mutations in Cfap36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-07-12