Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03347:Fam13b'

419539

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 #

IGL03347

Quality Score

Status

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 34462051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	A	9: 30,959,238	S670T	possibly damaging	Het
Adamts9	G	T	6: 92,887,432	Y185*	probably null	Het
Arid3a	T	A	10: 79,951,279	S512R	possibly damaging	Het
Atf6b	T	C	17: 34,653,240	V524A	probably damaging	Het
B230118H07Rik	A	G	2: 101,583,519		probably null	Het
Camk2d	A	G	3: 126,796,901	T254A	probably damaging	Het
Camsap2	G	T	1: 136,280,986	Q923K	possibly damaging	Het
Car10	G	A	11: 93,100,296		probably benign	Het
Ccdc39	A	G	3: 33,837,843	L160P	probably damaging	Het
Cdh7	A	T	1: 110,138,243	D749V	possibly damaging	Het
Cox6a2	A	T	7: 128,205,728		probably benign	Het
Cpne1	A	T	2: 156,079,176	Y65N	probably damaging	Het
Dnm1	T	C	2: 32,353,187	D8G	probably benign	Het
Emsy	A	G	7: 98,610,685	S140P	probably damaging	Het
Fbn2	T	C	18: 58,013,665	R2720G	probably damaging	Het
Fkbpl	A	G	17: 34,646,313		probably benign	Het
Gm4737	A	G	16: 46,154,489	V175A	probably benign	Het
Gpr179	A	G	11: 97,351,838	L60P	probably damaging	Het
Igsf10	A	T	3: 59,331,900	S287T	possibly damaging	Het
Kat2b	G	A	17: 53,624,351		probably null	Het
Kazald1	A	G	19: 45,078,416	D218G	possibly damaging	Het
Mbtd1	A	G	11: 93,923,179	E216G	probably benign	Het
Mtmr9	C	A	14: 63,543,567	V25L	probably benign	Het
Myo16	A	G	8: 10,376,120		probably null	Het
Nfkbil1	A	T	17: 35,220,583	V318E	probably damaging	Het
Olfr1009	T	C	2: 85,721,807	V134A	probably benign	Het
Olfr697	A	T	7: 106,740,970		probably benign	Het
Pidd1	A	G	7: 141,439,168	V800A	probably damaging	Het
Ptprs	G	A	17: 56,435,972	S390L	probably benign	Het
Ralgapb	G	A	2: 158,465,960	V729I	possibly damaging	Het
Sfrp5	T	A	19: 42,198,768	M288L	probably benign	Het
Slc26a1	C	A	5: 108,673,810	G71V	probably damaging	Het
Srcin1	A	T	11: 97,525,344	S1021T	probably damaging	Het
Supt6	A	T	11: 78,232,185	M124K	possibly damaging	Het
Thada	A	G	17: 84,398,205	F1157S	probably damaging	Het
Tmcc2	A	G	1: 132,357,652	S424P	probably damaging	Het
Trim37	G	A	11: 87,201,621	R752Q	possibly damaging	Het
Unc80	A	T	1: 66,695,466	Q238L	probably damaging	Het
Vmn2r23	C	A	6: 123,704,374	H80Q	probably benign	Het
Wnt9a	A	T	11: 59,330,914	T213S	probably damaging	Het
Zfp953	T	A	13: 67,343,426	Q154L	probably benign	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
IGL02123:Fam13b	APN	18	34445618	unclassified	probably benign
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
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

2016-08-02