Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01288:Fam13a'

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Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam13a

Ensembl Gene

ENSMUSG00000037709

Gene Name

family with sequence similarity 13, member A

Synonyms

D430015B01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01288

Quality Score

Status

Chromosome

Chromosomal Location

58932090-59024549 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58956727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 293 (Y293H)

Ref Sequence

ENSEMBL: ENSMUSP00000134135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089860] [ENSMUST00000173193]

AlphaFold

Q8BGI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000089860
AA Change: Y293H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: Y293H

Domain	Start	End	E-Value	Type
Blast:RhoGAP	19	128	6e-27	BLAST
low complexity region	136	147	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
low complexity region	173	185	N/A	INTRINSIC
coiled coil region	336	363	N/A	INTRINSIC
low complexity region	419	433	N/A	INTRINSIC
coiled coil region	620	645	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173193
AA Change: Y293H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: Y293H

Domain	Start	End	E-Value	Type
Blast:RhoGAP	21	128	6e-27	BLAST
low complexity region	136	147	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
low complexity region	173	185	N/A	INTRINSIC
coiled coil region	336	363	N/A	INTRINSIC
low complexity region	419	433	N/A	INTRINSIC
coiled coil region	592	617	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	G	T	8: 122,780,642		probably benign	Het
Acsl3	G	T	1: 78,699,759	W490L	possibly damaging	Het
Ahnak	A	G	19: 9,002,494	I381V	possibly damaging	Het
Aox2	A	G	1: 58,294,407	Y261C	probably damaging	Het
Ap3m2	T	C	8: 22,803,915	T40A	probably benign	Het
Arfgef1	C	T	1: 10,213,211	A158T	possibly damaging	Het
Atp1a4	T	C	1: 172,257,907	E43G	possibly damaging	Het
Cog5	C	T	12: 31,886,206	T584I	probably benign	Het
Cpa1	G	A	6: 30,640,583	V75M	probably damaging	Het
Cul7	A	G	17: 46,657,807		probably benign	Het
Dopey2	T	C	16: 93,739,293	I93T	possibly damaging	Het
Dyrk2	T	C	10: 118,860,699	Y218C	probably damaging	Het
Efr3b	T	C	12: 3,982,865	Y164C	probably damaging	Het
Etos1	C	A	7: 130,772,205		probably benign	Het
Fam35a	A	T	14: 34,259,643	Y513N	probably benign	Het
Gde1	A	T	7: 118,691,640	V154D	possibly damaging	Het
Glyat	A	G	19: 12,650,355	T105A	possibly damaging	Het
Il1f8	A	T	2: 24,159,913	I179L	probably benign	Het
Kif21b	C	T	1: 136,172,184	T1492M	probably benign	Het
Kmt2d	G	T	15: 98,865,044	P282T	probably damaging	Het
Lgi4	A	G	7: 31,069,043	E489G	probably benign	Het
Lipn	A	C	19: 34,079,035	E260D	probably benign	Het
Mdn1	A	G	4: 32,730,864	D2911G	probably benign	Het
Nab2	C	T	10: 127,665,109	R38Q	probably damaging	Het
Olfr1101	C	A	2: 86,988,254	M307I	probably benign	Het
Olfr1184	T	A	2: 88,487,248	I172K	probably damaging	Het
Olfr1231	A	T	2: 89,303,472	V40E	possibly damaging	Het
Olfr395	A	T	11: 73,907,313	Y60N	probably damaging	Het
Olfr523	T	C	7: 140,176,615	L165P	probably damaging	Het
Olfr556	A	G	7: 102,670,651	T244A	probably damaging	Het
Osbpl6	T	C	2: 76,564,823	S337P	probably damaging	Het
Phf8	T	C	X: 151,547,925		probably null	Het
Pik3c2b	C	T	1: 133,094,805	H1162Y	probably damaging	Het
Plek2	T	C	12: 78,894,953	D134G	possibly damaging	Het
Rnf139	G	A	15: 58,899,179	R351H	probably damaging	Het
Skint5	T	C	4: 113,524,135		probably benign	Het
Slc12a9	C	T	5: 137,330,938		probably null	Het
St5	A	G	7: 109,539,822	I668T	probably damaging	Het
Stradb	C	A	1: 58,992,301	H216N	possibly damaging	Het
Tex15	C	T	8: 33,571,384	H281Y	probably benign	Het
Tg	G	T	15: 66,736,276	V237L	possibly damaging	Het
Tns1	T	A	1: 73,953,810	T570S	probably damaging	Het
Tpm1	C	T	9: 67,036,055	R105H	probably damaging	Het
Wdfy3	G	T	5: 101,901,991		probably null	Het
Zc3h12c	A	G	9: 52,117,651		probably benign	Het
Zmynd8	T	A	2: 165,812,814	S584C	probably damaging	Het

Other mutations in Fam13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00265:Fam13a	APN	6	58946126	missense	probably benign	0.03
IGL00467:Fam13a	APN	6	58940113	splice site	probably benign
IGL01503:Fam13a	APN	6	58956080	missense	probably damaging	1.00
IGL01532:Fam13a	APN	6	58940295	missense	probably damaging	0.96
IGL02197:Fam13a	APN	6	58935601	missense	possibly damaging	0.65
IGL02206:Fam13a	APN	6	58987219	missense	probably benign	0.00
IGL03189:Fam13a	APN	6	58956858	missense	probably damaging	0.99
BB009:Fam13a	UTSW	6	58983888	critical splice donor site	probably null
BB019:Fam13a	UTSW	6	58983888	critical splice donor site	probably null
R0361:Fam13a	UTSW	6	58987174	missense	probably benign
R0512:Fam13a	UTSW	6	58956699	missense	probably damaging	1.00
R0801:Fam13a	UTSW	6	58984012	missense	probably benign	0.01
R1222:Fam13a	UTSW	6	58935722	splice site	probably benign
R1378:Fam13a	UTSW	6	58956751	missense	probably benign	0.04
R1535:Fam13a	UTSW	6	58939347	missense	probably damaging	0.99
R1614:Fam13a	UTSW	6	58940184	missense	probably damaging	1.00
R1663:Fam13a	UTSW	6	58954372	nonsense	probably null
R1809:Fam13a	UTSW	6	58965060	critical splice donor site	probably null
R1905:Fam13a	UTSW	6	58953490	missense	probably damaging	1.00
R2568:Fam13a	UTSW	6	58935609	missense	probably damaging	1.00
R3771:Fam13a	UTSW	6	58987186	missense	probably benign	0.11
R4654:Fam13a	UTSW	6	58987167	missense	probably benign
R5244:Fam13a	UTSW	6	58953474	nonsense	probably null
R5488:Fam13a	UTSW	6	59024318	missense	probably null	1.00
R5489:Fam13a	UTSW	6	59024318	missense	probably null	1.00
R5712:Fam13a	UTSW	6	58956699	missense	probably damaging	1.00
R5729:Fam13a	UTSW	6	58939307	missense	probably damaging	0.99
R5969:Fam13a	UTSW	6	58965198	missense	probably damaging	1.00
R6074:Fam13a	UTSW	6	58989738	splice site	probably null
R6275:Fam13a	UTSW	6	58954257	missense	probably damaging	0.98
R6306:Fam13a	UTSW	6	58940254	missense	probably benign	0.02
R6338:Fam13a	UTSW	6	58953499	missense	probably damaging	1.00
R6603:Fam13a	UTSW	6	58987189	missense	probably benign	0.31
R7508:Fam13a	UTSW	6	58987284	missense	probably damaging	1.00
R7516:Fam13a	UTSW	6	58955263	missense	probably damaging	1.00
R7688:Fam13a	UTSW	6	58935707	missense	probably benign	0.05
R7728:Fam13a	UTSW	6	58954299	missense	possibly damaging	0.79
R7932:Fam13a	UTSW	6	58983888	critical splice donor site	probably null
R8080:Fam13a	UTSW	6	58956805	missense	probably damaging	1.00
R9494:Fam13a	UTSW	6	58953523	missense	probably benign	0.00
R9671:Fam13a	UTSW	6	58974029	critical splice donor site	probably null

Posted On

2013-10-07