Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00402:Fam13b'

5727

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 #

IGL00402

Quality Score

Status

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34454718 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 509 (V509D)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

probably damaging
Transcript: ENSMUST00000040506
AA Change: V509D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: V509D

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,295,191	L846H	probably benign	Het
Abca6	A	T	11: 110,184,709	L1319I	probably damaging	Het
Apob	C	T	12: 7,993,065		probably benign	Het
Atg16l2	A	C	7: 101,296,153	S268R	probably benign	Het
Atp1b3	T	C	9: 96,333,703		probably benign	Het
Atxn7	T	G	14: 14,096,324		probably benign	Het
Birc6	G	A	17: 74,573,563		probably benign	Het
C330027C09Rik	T	A	16: 49,001,815	H234Q	probably damaging	Het
C4b	G	A	17: 34,734,428	T1027I	probably damaging	Het
Caskin1	T	C	17: 24,503,889	I577T	probably damaging	Het
Cbx6	A	G	15: 79,828,929	V99A	possibly damaging	Het
Ccr9	A	C	9: 123,780,044	I252L	probably benign	Het
Cdh8	A	T	8: 99,279,690	D88E	probably damaging	Het
Cep135	T	C	5: 76,601,459	S258P	probably damaging	Het
Cep57l1	T	G	10: 41,721,551		probably benign	Het
Col12a1	T	C	9: 79,681,537	T1099A	possibly damaging	Het
Col4a4	C	T	1: 82,491,641	G802D	unknown	Het
Ddx41	T	C	13: 55,531,399	T545A	probably damaging	Het
Disc1	A	T	8: 125,088,275	T293S	probably benign	Het
Ffar4	C	T	19: 38,107,389	P192L	probably benign	Het
Fn1	C	A	1: 71,641,163	C461F	probably damaging	Het
Gm14226	G	T	2: 155,025,158	S345I	probably damaging	Het
Gopc	T	C	10: 52,349,230	K308E	probably damaging	Het
Hapln2	A	T	3: 88,024,334	N28K	possibly damaging	Het
Hectd1	T	C	12: 51,769,108	S1394G	possibly damaging	Het
Hectd1	T	C	12: 51,759,432	H1807R	probably benign	Het
Ifnl2	A	T	7: 28,508,865	V193D	possibly damaging	Het
Il1rap	T	A	16: 26,722,401	M464K	possibly damaging	Het
Krtap16-1	A	T	11: 99,985,731	C282*	probably null	Het
Ltv1	C	T	10: 13,190,583	V100I	probably benign	Het
Mcf2l	T	C	8: 13,000,857	S308P	probably damaging	Het
Narf	G	A	11: 121,238,518		probably null	Het
Nmd3	T	A	3: 69,745,240	N386K	possibly damaging	Het
Noxo1	C	T	17: 24,698,936		probably benign	Het
Olfr390	T	A	11: 73,787,580	I214N	probably damaging	Het
Ppic	C	T	18: 53,409,294	G114D	probably damaging	Het
Ppp4r1	T	C	17: 65,816,019	S339P	probably benign	Het
Ptprg	T	A	14: 12,215,992	L1147Q	probably damaging	Het
Qser1	A	G	2: 104,786,981	V1072A	probably benign	Het
Rad54l2	T	A	9: 106,700,561	M1054L	probably benign	Het
Scara5	A	C	14: 65,738,415		probably benign	Het
Smtnl2	C	T	11: 72,403,259		probably benign	Het
Spink8	A	T	9: 109,819,219	I25F	probably benign	Het
Vit	G	A	17: 78,601,907		probably null	Het
Vps13b	A	G	15: 35,926,226	D3891G	possibly damaging	Het
Zfp207	T	A	11: 80,393,085	M277K	probably benign	Het
Zp2	T	C	7: 120,133,400	D641G	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
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
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

2012-04-20