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: 0.319) question?

Stock #

IGL02694

Quality Score

Status

Chromosome

Chromosomal Location

34575404-34639884 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 34584259 bp (GRCm39)

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: 97,866,084 (GRCm39)	I213T	probably benign	Het
Alox8	T	A	11: 69,077,455 (GRCm39)	T432S	probably damaging	Het
Col4a3	T	C	1: 82,688,515 (GRCm39)		probably benign	Het
Cyp2c54	A	G	19: 40,035,987 (GRCm39)	Y308H	possibly damaging	Het
Dscam	A	G	16: 96,394,476 (GRCm39)	V1942A	probably benign	Het
F11	T	C	8: 45,705,196 (GRCm39)	Y115C	probably damaging	Het
Gykl1	A	G	18: 52,827,257 (GRCm39)	H155R	probably benign	Het
Lmo7	T	A	14: 102,124,606 (GRCm39)	V355D	probably damaging	Het
Lrtm2	T	A	6: 119,297,846 (GRCm39)	D65V	possibly damaging	Het
Ly6g6f	C	T	17: 35,300,144 (GRCm39)	V235M	possibly damaging	Het
Mlxipl	G	A	5: 135,152,872 (GRCm39)		probably null	Het
Or11j4	A	G	14: 50,630,257 (GRCm39)	I15V	probably benign	Het
Or13a20	A	G	7: 140,232,093 (GRCm39)	N67S	probably damaging	Het
Or14a256	C	T	7: 86,265,518 (GRCm39)	V112I	probably benign	Het
Ppp2r1a	A	G	17: 21,171,702 (GRCm39)		probably benign	Het
Psmb2	A	G	4: 126,603,351 (GRCm39)	N193S	probably benign	Het
Rassf2	A	T	2: 131,851,641 (GRCm39)	Y34N	possibly damaging	Het
Ryr2	A	G	13: 11,620,075 (GRCm39)	F3841L	probably damaging	Het
Skint2	A	G	4: 112,473,792 (GRCm39)		probably benign	Het
Spdl1	T	C	11: 34,704,448 (GRCm39)	I462V	probably benign	Het
Spopfm1	A	G	3: 94,173,459 (GRCm39)	M152V	probably benign	Het
Tlk2	A	G	11: 105,112,061 (GRCm39)	E138G	probably benign	Het
Vmn1r89	A	G	7: 12,954,056 (GRCm39)	E196G	probably benign	Het
Zfp142	A	G	1: 74,609,307 (GRCm39)	L1496P	probably damaging	Het
Zfp689	T	C	7: 127,047,573 (GRCm39)	D94G	possibly damaging	Het
Zfp944	A	G	17: 22,558,899 (GRCm39)	V116A	probably benign	Het

Other mutations in Fam13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Fam13b	APN	18	34,620,149 (GRCm39)	missense	possibly damaging	0.92
IGL00402:Fam13b	APN	18	34,587,771 (GRCm39)	missense	probably damaging	1.00
IGL00556:Fam13b	APN	18	34,630,488 (GRCm39)	missense	probably damaging	0.99
IGL02123:Fam13b	APN	18	34,578,671 (GRCm39)	unclassified	probably benign
IGL02313:Fam13b	APN	18	34,587,709 (GRCm39)	missense	probably damaging	1.00
IGL02346:Fam13b	APN	18	34,595,158 (GRCm39)	missense	probably benign	0.00
IGL02347:Fam13b	APN	18	34,587,757 (GRCm39)	missense	probably damaging	1.00
IGL03347:Fam13b	APN	18	34,595,104 (GRCm39)	splice site	probably benign
R0109:Fam13b	UTSW	18	34,584,361 (GRCm39)	missense	probably benign	0.00
R0233:Fam13b	UTSW	18	34,581,137 (GRCm39)	missense	probably damaging	1.00
R0455:Fam13b	UTSW	18	34,578,581 (GRCm39)	unclassified	probably benign
R1229:Fam13b	UTSW	18	34,578,636 (GRCm39)	missense	probably benign	0.05
R1397:Fam13b	UTSW	18	34,578,636 (GRCm39)	missense	probably benign	0.05
R1571:Fam13b	UTSW	18	34,630,485 (GRCm39)	missense	possibly damaging	0.92
R1703:Fam13b	UTSW	18	34,584,492 (GRCm39)	critical splice acceptor site	probably null
R1732:Fam13b	UTSW	18	34,620,187 (GRCm39)	missense	probably benign	0.04
R1777:Fam13b	UTSW	18	34,590,813 (GRCm39)	missense	possibly damaging	0.84
R1956:Fam13b	UTSW	18	34,578,382 (GRCm39)	missense	possibly damaging	0.69
R2296:Fam13b	UTSW	18	34,627,814 (GRCm39)	missense	possibly damaging	0.88
R3881:Fam13b	UTSW	18	34,595,112 (GRCm39)	critical splice donor site	probably null
R3896:Fam13b	UTSW	18	34,596,008 (GRCm39)	splice site	probably benign
R5277:Fam13b	UTSW	18	34,595,243 (GRCm39)	missense	probably benign
R5759:Fam13b	UTSW	18	34,630,488 (GRCm39)	missense	probably damaging	0.99
R5817:Fam13b	UTSW	18	34,590,850 (GRCm39)	missense	possibly damaging	0.93
R5897:Fam13b	UTSW	18	34,587,134 (GRCm39)	missense	possibly damaging	0.83
R6009:Fam13b	UTSW	18	34,630,458 (GRCm39)	missense	possibly damaging	0.92
R6020:Fam13b	UTSW	18	34,627,827 (GRCm39)	missense	probably damaging	1.00
R6087:Fam13b	UTSW	18	34,620,192 (GRCm39)	missense	possibly damaging	0.48
R6151:Fam13b	UTSW	18	34,627,330 (GRCm39)	missense	probably damaging	0.96
R6454:Fam13b	UTSW	18	34,590,715 (GRCm39)	critical splice donor site	probably null
R6464:Fam13b	UTSW	18	34,606,684 (GRCm39)	nonsense	probably null
R6679:Fam13b	UTSW	18	34,620,075 (GRCm39)	missense	possibly damaging	0.53
R6723:Fam13b	UTSW	18	34,631,079 (GRCm39)	missense	possibly damaging	0.86
R6990:Fam13b	UTSW	18	34,630,500 (GRCm39)	missense	possibly damaging	0.92
R7420:Fam13b	UTSW	18	34,627,664 (GRCm39)	missense	probably damaging	1.00
R7517:Fam13b	UTSW	18	34,627,660 (GRCm39)	missense	probably damaging	0.98
R7534:Fam13b	UTSW	18	34,631,060 (GRCm39)	missense	probably damaging	0.97
R7889:Fam13b	UTSW	18	34,590,744 (GRCm39)	missense	probably benign	0.00
R8139:Fam13b	UTSW	18	34,606,686 (GRCm39)	missense	possibly damaging	0.50
R8776:Fam13b	UTSW	18	34,584,446 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Fam13b	UTSW	18	34,584,446 (GRCm39)	missense	probably damaging	1.00
R8826:Fam13b	UTSW	18	34,631,070 (GRCm39)	missense	probably damaging	0.96
R9166:Fam13b	UTSW	18	34,595,252 (GRCm39)	missense	probably benign	0.10

Posted On

2015-04-16