Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02694:Fam13b'

303869

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: 0.395) question?

Stock #

IGL02694

Quality Score

Status

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 34451206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

probably null
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 null
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	A	G	7: 98,216,877 (GRCm38)	I213T	probably benign	Het
Alox8	T	A	11: 69,186,629 (GRCm38)	T432S	probably damaging	Het
Col4a3	T	C	1: 82,710,794 (GRCm38)		probably benign	Het
Cyp2c54	A	G	19: 40,047,543 (GRCm38)	Y308H	possibly damaging	Het
Dscam	A	G	16: 96,593,276 (GRCm38)	V1942A	probably benign	Het
F11	T	C	8: 45,252,159 (GRCm38)	Y115C	probably damaging	Het
Gykl1	A	G	18: 52,694,185 (GRCm38)	H155R	probably benign	Het
Lmo7	T	A	14: 101,887,170 (GRCm38)	V355D	probably damaging	Het
Lrtm2	T	A	6: 119,320,885 (GRCm38)	D65V	possibly damaging	Het
Ly6g6f	C	T	17: 35,081,168 (GRCm38)	V235M	possibly damaging	Het
Mlxipl	G	A	5: 135,124,018 (GRCm38)		probably null	Het
Or11j4	A	G	14: 50,392,800 (GRCm38)	I15V	probably benign	Het
Or13a20	A	G	7: 140,652,180 (GRCm38)	N67S	probably damaging	Het
Or14a256	C	T	7: 86,616,310 (GRCm38)	V112I	probably benign	Het
Ppp2r1a	A	G	17: 20,951,440 (GRCm38)		probably benign	Het
Psmb2	A	G	4: 126,709,558 (GRCm38)	N193S	probably benign	Het
Rassf2	A	T	2: 132,009,721 (GRCm38)	Y34N	possibly damaging	Het
Ryr2	A	G	13: 11,605,189 (GRCm38)	F3841L	probably damaging	Het
Skint2	A	G	4: 112,616,595 (GRCm38)		probably benign	Het
Spdl1	T	C	11: 34,813,621 (GRCm38)	I462V	probably benign	Het
Spopfm1	A	G	3: 94,266,152 (GRCm38)	M152V	probably benign	Het
Tlk2	A	G	11: 105,221,235 (GRCm38)	E138G	probably benign	Het
Vmn1r89	A	G	7: 13,220,129 (GRCm38)	E196G	probably benign	Het
Zfp142	A	G	1: 74,570,148 (GRCm38)	L1496P	probably damaging	Het
Zfp689	T	C	7: 127,448,401 (GRCm38)	D94G	possibly damaging	Het
Zfp944	A	G	17: 22,339,918 (GRCm38)	V116A	probably benign	Het

Other mutations in Fam13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Fam13b	APN	18	34,487,096 (GRCm38)	missense	possibly damaging	0.92
IGL00402:Fam13b	APN	18	34,454,718 (GRCm38)	missense	probably damaging	1.00
IGL00556:Fam13b	APN	18	34,497,435 (GRCm38)	missense	probably damaging	0.99
IGL02123:Fam13b	APN	18	34,445,618 (GRCm38)	unclassified	probably benign
IGL02313:Fam13b	APN	18	34,454,656 (GRCm38)	missense	probably damaging	1.00
IGL02346:Fam13b	APN	18	34,462,105 (GRCm38)	missense	probably benign	0.00
IGL02347:Fam13b	APN	18	34,454,704 (GRCm38)	missense	probably damaging	1.00
IGL03347:Fam13b	APN	18	34,462,051 (GRCm38)	splice site	probably benign
R0109:Fam13b	UTSW	18	34,451,308 (GRCm38)	missense	probably benign	0.00
R0233:Fam13b	UTSW	18	34,448,084 (GRCm38)	missense	probably damaging	1.00
R0455:Fam13b	UTSW	18	34,445,528 (GRCm38)	unclassified	probably benign
R1229:Fam13b	UTSW	18	34,445,583 (GRCm38)	missense	probably benign	0.05
R1397:Fam13b	UTSW	18	34,445,583 (GRCm38)	missense	probably benign	0.05
R1571:Fam13b	UTSW	18	34,497,432 (GRCm38)	missense	possibly damaging	0.92
R1703:Fam13b	UTSW	18	34,451,439 (GRCm38)	critical splice acceptor site	probably null
R1732:Fam13b	UTSW	18	34,487,134 (GRCm38)	missense	probably benign	0.04
R1777:Fam13b	UTSW	18	34,457,760 (GRCm38)	missense	possibly damaging	0.84
R1956:Fam13b	UTSW	18	34,445,329 (GRCm38)	missense	possibly damaging	0.69
R2296:Fam13b	UTSW	18	34,494,761 (GRCm38)	missense	possibly damaging	0.88
R3881:Fam13b	UTSW	18	34,462,059 (GRCm38)	critical splice donor site	probably null
R3896:Fam13b	UTSW	18	34,462,955 (GRCm38)	splice site	probably benign
R5277:Fam13b	UTSW	18	34,462,190 (GRCm38)	missense	probably benign
R5759:Fam13b	UTSW	18	34,497,435 (GRCm38)	missense	probably damaging	0.99
R5817:Fam13b	UTSW	18	34,457,797 (GRCm38)	missense	possibly damaging	0.93
R5897:Fam13b	UTSW	18	34,454,081 (GRCm38)	missense	possibly damaging	0.83
R6009:Fam13b	UTSW	18	34,497,405 (GRCm38)	missense	possibly damaging	0.92
R6020:Fam13b	UTSW	18	34,494,774 (GRCm38)	missense	probably damaging	1.00
R6087:Fam13b	UTSW	18	34,487,139 (GRCm38)	missense	possibly damaging	0.48
R6151:Fam13b	UTSW	18	34,494,277 (GRCm38)	missense	probably damaging	0.96
R6454:Fam13b	UTSW	18	34,457,662 (GRCm38)	critical splice donor site	probably null
R6464:Fam13b	UTSW	18	34,473,631 (GRCm38)	nonsense	probably null
R6679:Fam13b	UTSW	18	34,487,022 (GRCm38)	missense	possibly damaging	0.53
R6723:Fam13b	UTSW	18	34,498,026 (GRCm38)	missense	possibly damaging	0.86
R6990:Fam13b	UTSW	18	34,497,447 (GRCm38)	missense	possibly damaging	0.92
R7420:Fam13b	UTSW	18	34,494,611 (GRCm38)	missense	probably damaging	1.00
R7517:Fam13b	UTSW	18	34,494,607 (GRCm38)	missense	probably damaging	0.98
R7534:Fam13b	UTSW	18	34,498,007 (GRCm38)	missense	probably damaging	0.97
R7889:Fam13b	UTSW	18	34,457,691 (GRCm38)	missense	probably benign	0.00
R8139:Fam13b	UTSW	18	34,473,633 (GRCm38)	missense	possibly damaging	0.50
R8776:Fam13b	UTSW	18	34,451,393 (GRCm38)	missense	probably damaging	1.00
R8776-TAIL:Fam13b	UTSW	18	34,451,393 (GRCm38)	missense	probably damaging	1.00
R8826:Fam13b	UTSW	18	34,498,017 (GRCm38)	missense	probably damaging	0.96
R9166:Fam13b	UTSW	18	34,462,199 (GRCm38)	missense	probably benign	0.10

Posted On

2015-04-16