Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02123:Fam13b'

280741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

IGL02123

Quality Score

Status

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 34445618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000040506] [ENSMUST00000166156]

AlphaFold

Q8K2H3

Predicted Effect

probably benign
Transcript: ENSMUST00000014647

SMART Domains

Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503

Domain	Start	End	E-Value	Type
transmembrane domain	32	51	N/A	INTRINSIC
Pfam:PKD_channel	75	497	9.8e-129	PFAM
Pfam:Ion_trans	281	490	4.1e-19	PFAM
coiled coil region	523	550	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040506

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
RhoGAP	36	209	3.28e-44	SMART
coiled coil region	220	240	N/A	INTRINSIC
low complexity region	280	295	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC
coiled coil region	507	532	N/A	INTRINSIC
low complexity region	719	726	N/A	INTRINSIC
coiled coil region	778	807	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166156

SMART Domains

Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503

Domain	Start	End	E-Value	Type
transmembrane domain	32	51	N/A	INTRINSIC
Pfam:PKD_channel	75	497	9.6e-131	PFAM
Pfam:Ion_trans	242	502	4.8e-20	PFAM
coiled coil region	523	550	N/A	INTRINSIC

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
Acp7	T	C	7: 28,629,489	T31A	probably benign	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Ampd3	T	C	7: 110,802,559	V429A	possibly damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cldn11	C	T	3: 31,150,187	T13M	probably benign	Het
Cngb3	C	A	4: 19,367,801	Q237K	probably damaging	Het
Col12a1	A	G	9: 79,662,458		probably null	Het
Copa	T	A	1: 172,112,128	L621H	probably damaging	Het
Dbn1	T	C	13: 55,476,740	D332G	possibly damaging	Het
Drc1	T	C	5: 30,347,104	S197P	probably benign	Het
E2f2	A	G	4: 136,172,848	N23S	probably benign	Het
Epb41l2	T	A	10: 25,460,844	L246H	probably damaging	Het
Fam184b	A	G	5: 45,639,151	M30T	possibly damaging	Het
Fam71d	T	C	12: 78,734,207		probably null	Het
Fn3krp	G	A	11: 121,429,444	R205H	probably benign	Het
Fndc11	A	G	2: 181,221,650	I83V	probably benign	Het
Gm3460	C	T	14: 6,619,542	R150H	probably benign	Het
Hs6st1	T	A	1: 36,103,871	F296I	possibly damaging	Het
Igsf10	T	A	3: 59,318,660	I2531F	probably damaging	Het
Klhl40	T	C	9: 121,779,923	F385L	probably benign	Het
Krt83	A	T	15: 101,487,585	M302K	possibly damaging	Het
Lrrc43	A	T	5: 123,494,279	I162F	probably damaging	Het
Map3k21	A	G	8: 125,926,110	E325G	probably damaging	Het
Mpo	A	T	11: 87,794,795	N33I	probably benign	Het
Mpp4	A	G	1: 59,161,466		probably null	Het
Muc5b	C	T	7: 141,863,757	T3480I	possibly damaging	Het
Myo6	T	C	9: 80,264,272		probably benign	Het
Nostrin	C	T	2: 69,156,109		probably benign	Het
Nphp1	T	C	2: 127,754,049	M498V	probably benign	Het
Nr4a2	A	T	2: 57,111,655	L199Q	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,820	N598I	probably damaging	Het
Pex19	T	A	1: 172,134,286	M207K	probably damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Plekha2	T	C	8: 25,042,729	K409E	probably damaging	Het
Plxna2	T	C	1: 194,794,383	L1169P	probably damaging	Het
Pmpcb	A	G	5: 21,743,375		probably benign	Het
Ptrh1	T	C	2: 32,776,814		probably benign	Het
Rc3h2	T	C	2: 37,398,253	E439G	probably damaging	Het
Ric1	C	T	19: 29,594,800	A665V	probably benign	Het
Stx18	T	A	5: 38,128,103	V219D	probably damaging	Het
Taf7	A	T	18: 37,642,480		probably benign	Het
Tbc1d8	A	G	1: 39,376,907	I895T	possibly damaging	Het
Tbc1d8	A	G	1: 39,380,236	S766P	probably damaging	Het
Tekt3	C	A	11: 63,083,940	H362N	probably benign	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Tmem94	T	C	11: 115,787,538	S196P	possibly damaging	Het
Vmn2r14	T	C	5: 109,220,067	Y353C	probably damaging	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vmn2r90	T	G	17: 17,733,482	M636R	probably benign	Het
Vmn2r98	T	A	17: 19,080,679	C648S	probably damaging	Het
Zfpm2	G	A	15: 41,102,195	C560Y	probably damaging	Het

Other mutations in Fam13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Fam13b	APN	18	34487096	missense	possibly damaging	0.92
IGL00402:Fam13b	APN	18	34454718	missense	probably damaging	1.00
IGL00556:Fam13b	APN	18	34497435	missense	probably damaging	0.99
IGL02313:Fam13b	APN	18	34454656	missense	probably damaging	1.00
IGL02346:Fam13b	APN	18	34462105	missense	probably benign	0.00
IGL02347:Fam13b	APN	18	34454704	missense	probably damaging	1.00
IGL02694:Fam13b	APN	18	34451206	critical splice donor site	probably null
IGL03347:Fam13b	APN	18	34462051	splice site	probably benign
R0109:Fam13b	UTSW	18	34451308	missense	probably benign	0.00
R0233:Fam13b	UTSW	18	34448084	missense	probably damaging	1.00
R0455:Fam13b	UTSW	18	34445528	unclassified	probably benign
R1229:Fam13b	UTSW	18	34445583	missense	probably benign	0.05
R1397:Fam13b	UTSW	18	34445583	missense	probably benign	0.05
R1571:Fam13b	UTSW	18	34497432	missense	possibly damaging	0.92
R1703:Fam13b	UTSW	18	34451439	critical splice acceptor site	probably null
R1732:Fam13b	UTSW	18	34487134	missense	probably benign	0.04
R1777:Fam13b	UTSW	18	34457760	missense	possibly damaging	0.84
R1956:Fam13b	UTSW	18	34445329	missense	possibly damaging	0.69
R2296:Fam13b	UTSW	18	34494761	missense	possibly damaging	0.88
R3881:Fam13b	UTSW	18	34462059	critical splice donor site	probably null
R3896:Fam13b	UTSW	18	34462955	splice site	probably benign
R5277:Fam13b	UTSW	18	34462190	missense	probably benign
R5759:Fam13b	UTSW	18	34497435	missense	probably damaging	0.99
R5817:Fam13b	UTSW	18	34457797	missense	possibly damaging	0.93
R5897:Fam13b	UTSW	18	34454081	missense	possibly damaging	0.83
R6009:Fam13b	UTSW	18	34497405	missense	possibly damaging	0.92
R6020:Fam13b	UTSW	18	34494774	missense	probably damaging	1.00
R6087:Fam13b	UTSW	18	34487139	missense	possibly damaging	0.48
R6151:Fam13b	UTSW	18	34494277	missense	probably damaging	0.96
R6454:Fam13b	UTSW	18	34457662	critical splice donor site	probably null
R6464:Fam13b	UTSW	18	34473631	nonsense	probably null
R6679:Fam13b	UTSW	18	34487022	missense	possibly damaging	0.53
R6723:Fam13b	UTSW	18	34498026	missense	possibly damaging	0.86
R6990:Fam13b	UTSW	18	34497447	missense	possibly damaging	0.92
R7420:Fam13b	UTSW	18	34494611	missense	probably damaging	1.00
R7517:Fam13b	UTSW	18	34494607	missense	probably damaging	0.98
R7534:Fam13b	UTSW	18	34498007	missense	probably damaging	0.97
R7889:Fam13b	UTSW	18	34457691	missense	probably benign	0.00
R8139:Fam13b	UTSW	18	34473633	missense	possibly damaging	0.50
R8776:Fam13b	UTSW	18	34451393	missense	probably damaging	1.00
R8776-TAIL:Fam13b	UTSW	18	34451393	missense	probably damaging	1.00
R8826:Fam13b	UTSW	18	34498017	missense	probably damaging	0.96
R9166:Fam13b	UTSW	18	34462199	missense	probably benign	0.10

Posted On

2015-04-16