Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02346:Fam13b'

289291

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 #

IGL02346

Quality Score

Status

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34462105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 402 (A402E)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

probably benign
Transcript: ENSMUST00000040506
AA Change: A402E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: A402E

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
Acacb	A	T	5: 114,238,699	I1948F	probably damaging	Het
Adgre1	T	C	17: 57,443,919	V531A	probably benign	Het
Ano3	A	T	2: 110,770,926		probably benign	Het
Api5	A	T	2: 94,427,530	F125I	possibly damaging	Het
Arhgap21	A	G	2: 20,879,951		probably benign	Het
Atp13a5	T	A	16: 29,327,736	K247*	probably null	Het
Ccdc58	T	C	16: 36,091,835	V87A	probably damaging	Het
Col9a1	C	T	1: 24,223,609	A585V	probably damaging	Het
Eef1akmt3	A	G	10: 127,032,936	V223A	probably benign	Het
Eml1	T	C	12: 108,537,441	S766P	possibly damaging	Het
Gad2	A	G	2: 22,629,939		probably benign	Het
Gbf1	A	G	19: 46,285,930	E1859G	probably damaging	Het
Gli3	T	G	13: 15,723,693	V786G	probably damaging	Het
Gm5592	A	G	7: 41,289,465	S724G	probably damaging	Het
Hgs	A	G	11: 120,482,551	Y634C	probably damaging	Het
Hoxa3	T	A	6: 52,170,599		probably benign	Het
Id4	C	A	13: 48,261,713	Y72*	probably null	Het
Il5ra	T	A	6: 106,742,658	E71D	probably benign	Het
Kcnh4	G	A	11: 100,756,942	T168M	possibly damaging	Het
Kdm3b	A	T	18: 34,834,238	I1699L	probably damaging	Het
Madd	A	G	2: 91,162,491	Y1048H	probably damaging	Het
Nr2f1	C	A	13: 78,195,408	V246L	probably damaging	Het
Oas2	A	T	5: 120,736,088	I560N	probably benign	Het
Olfr24	T	C	9: 18,754,769	I289V	probably damaging	Het
Olfr27	T	C	9: 39,144,643	L181P	probably damaging	Het
Olfr346	A	T	2: 36,688,004	M1L	probably benign	Het
Pclo	A	G	5: 14,677,538		probably benign	Het
Pdss2	T	C	10: 43,345,643	F184L	possibly damaging	Het
Prpf39	C	T	12: 65,057,736	T525I	probably benign	Het
Ralgps1	A	T	2: 33,157,770		probably null	Het
Rasal3	A	G	17: 32,399,349	W161R	probably damaging	Het
Sema5b	T	A	16: 35,649,755	V329D	probably damaging	Het
Serpinb9g	A	T	13: 33,486,531	M1L	probably benign	Het
Sptb	C	T	12: 76,621,014	D770N	probably damaging	Het
Tdp2	T	C	13: 24,841,352	V368A	possibly damaging	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Vmn2r9	T	A	5: 108,842,984	N837I	probably benign	Het
Vmn2r-ps130	T	C	17: 23,061,527	V54A	possibly damaging	Het
Wdr7	A	T	18: 63,865,336	E1118V	probably benign	Het
Wwox	A	G	8: 114,712,118	H308R	probably benign	Het
Zbtb41	C	A	1: 139,447,100	P766Q	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
IGL02123:Fam13b	APN	18	34445618	unclassified	probably benign
IGL02313:Fam13b	APN	18	34454656	missense	probably damaging	1.00
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