Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Cfap36'

92080

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 #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

29171532-29197409 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 29194057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118938 (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

noncoding transcript
Transcript: ENSMUST00000127940

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144627

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,856 (GRCm39)	V105A	probably benign	Het
Acr	T	C	15: 89,452,617 (GRCm39)	V18A	probably benign	Het
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 44,791,517 (GRCm39)	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,629,191 (GRCm39)	Y338N	probably benign	Het
Aox3	C	T	1: 58,208,953 (GRCm39)	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,644,353 (GRCm39)	S1535P	probably benign	Het
C4b	A	G	17: 34,961,993 (GRCm39)		probably benign	Het
Ccdc157	A	G	11: 4,098,781 (GRCm39)	C242R	probably damaging	Het
Cep135	T	A	5: 76,741,194 (GRCm39)	M90K	possibly damaging	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Copb2	T	C	9: 98,463,203 (GRCm39)	S473P	probably damaging	Het
Cpb1	C	T	3: 20,306,118 (GRCm39)		probably null	Het
Cpsf1	A	G	15: 76,480,741 (GRCm39)	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,360,328 (GRCm39)	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,492,743 (GRCm39)	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,272,421 (GRCm39)	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,077,482 (GRCm39)	V287M	probably damaging	Het
Fras1	T	C	5: 96,857,750 (GRCm39)	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,258,985 (GRCm39)		probably benign	Het
Gprc5c	A	G	11: 114,755,078 (GRCm39)	I252V	probably benign	Het
Ints3	C	T	3: 90,301,629 (GRCm39)		probably null	Het
L1td1	A	G	4: 98,625,581 (GRCm39)	D592G	probably damaging	Het
Lamb3	A	G	1: 193,025,720 (GRCm39)	M1137V	probably benign	Het
Leng8	C	A	7: 4,148,481 (GRCm39)	A751E	probably benign	Het
Lfng	T	C	5: 140,598,290 (GRCm39)	V204A	probably damaging	Het
Lsm14b	A	G	2: 179,674,396 (GRCm39)	D233G	probably damaging	Het
Map4	C	T	9: 109,863,836 (GRCm39)	P354S	probably benign	Het
Mapt	G	A	11: 104,185,741 (GRCm39)	V53M	probably damaging	Het
Mier1	T	G	4: 103,012,738 (GRCm39)	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,399,660 (GRCm39)	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,875 (GRCm39)	A257V	probably damaging	Het
Nup188	T	C	2: 30,217,537 (GRCm39)	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,258,750 (GRCm39)	S333P	probably damaging	Het
Or7g30	T	G	9: 19,353,111 (GRCm39)	F301V	probably benign	Het
Or9a4	A	C	6: 40,549,186 (GRCm39)	I289L	probably damaging	Het
Pbxip1	C	A	3: 89,350,897 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,633,124 (GRCm39)	C38F	probably damaging	Het
Plb1	A	T	5: 32,499,888 (GRCm39)		probably benign	Het
Plcz1	T	C	6: 139,947,982 (GRCm39)		probably benign	Het
Plxnb1	T	C	9: 108,939,672 (GRCm39)	V1447A	probably damaging	Het
Pnldc1	A	T	17: 13,125,415 (GRCm39)	M73K	probably benign	Het
Psg20	C	T	7: 18,414,963 (GRCm39)	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,478,155 (GRCm39)		probably null	Het
Rabgap1	T	C	2: 37,446,281 (GRCm39)	V859A	probably damaging	Het
Rad51b	T	A	12: 79,374,002 (GRCm39)	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,318,995 (GRCm39)	Q788*	probably null	Het
Ror2	C	T	13: 53,265,653 (GRCm39)	G468R	probably damaging	Het
Slamf7	A	G	1: 171,468,754 (GRCm39)	I46T	possibly damaging	Het
Stab2	A	G	10: 86,758,759 (GRCm39)	S1060P	probably damaging	Het
Syndig1	T	A	2: 149,845,203 (GRCm39)	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,266,317 (GRCm39)	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,436,616 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,188 (GRCm39)	Y103H	probably damaging	Het
Tut4	T	C	4: 108,370,596 (GRCm39)	S871P	possibly damaging	Het
Ubr3	T	C	2: 69,768,522 (GRCm39)	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,069,520 (GRCm39)	C749F	probably damaging	Het
Ulk2	G	T	11: 61,682,262 (GRCm39)	S751*	probably null	Het
Wrn	G	A	8: 33,731,039 (GRCm39)	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,385,508 (GRCm39)	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,547,163 (GRCm39)	S223P	probably 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
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

2013-12-09