Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Fam13a'

412584

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

58932090-59024549 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58956858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 249 (E249G)

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: E249G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: E249G

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: E249G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: E249G

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,823		probably benign	Het
Abcb1b	A	G	5: 8,845,814	T916A	probably benign	Het
Adam22	A	T	5: 8,111,897	Y50*	probably null	Het
Adprhl2	T	C	4: 126,317,294		probably benign	Het
Ahnak	G	A	19: 9,011,239	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,687,501	D125G	possibly damaging	Het
Bmp3	A	T	5: 98,872,720	Q334L	probably benign	Het
Camsap2	A	T	1: 136,281,662	D697E	probably damaging	Het
Car11	A	G	7: 45,702,455	T103A	probably damaging	Het
Cecr2	T	A	6: 120,762,430	S1373T	probably benign	Het
Cenpm	A	G	15: 82,234,433	V160A	possibly damaging	Het
Chl1	A	T	6: 103,683,207	I365F	possibly damaging	Het
Col20a1	C	T	2: 181,009,407	Q1089*	probably null	Het
Csf1r	A	T	18: 61,105,986	T13S	probably benign	Het
Fgd6	G	A	10: 94,044,456	V391I	probably benign	Het
Fhdc1	G	A	3: 84,455,061		probably benign	Het
Fn3krp	T	C	11: 121,429,630	I267T	probably damaging	Het
Fras1	A	T	5: 96,743,071	I2820F	probably benign	Het
Fyb2	A	G	4: 105,015,742	I771V	probably damaging	Het
Glis1	A	G	4: 107,615,051	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,913,428	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,063,087		probably null	Het
Iqgap1	T	A	7: 80,713,842	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,625,164	D181G	probably damaging	Het
Lrp2	T	C	2: 69,438,478		probably benign	Het
Mark1	T	C	1: 184,919,693	N95S	probably damaging	Het
Mbd5	A	G	2: 49,257,751	K658E	probably damaging	Het
Mcm6	C	T	1: 128,344,302	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,641,855	D187G	probably benign	Het
Mrpl19	G	T	6: 81,961,993	S276*	probably null	Het
Ncoa2	G	A	1: 13,190,136	T105M	probably damaging	Het
Nop14	A	G	5: 34,650,628		probably benign	Het
Olfr1018	A	G	2: 85,823,558	T196A	probably benign	Het
Olfr1152	G	A	2: 87,868,215	A75T	possibly damaging	Het
Olfr170	T	C	16: 19,606,591	T26A	probably benign	Het
Otud7b	G	A	3: 96,155,478	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,336,152	V25M	probably damaging	Het
Prpf39	G	T	12: 65,043,302	G5*	probably null	Het
Serpinb9d	T	C	13: 33,202,912	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,468,530	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452	I55T	probably benign	Het
Spata13	T	C	14: 60,691,614	I207T	possibly damaging	Het
Suco	T	C	1: 161,857,337		probably benign	Het
Svs2	A	G	2: 164,237,112	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,285,386	I313V	probably benign	Het
Tmem45a	A	T	16: 56,811,573	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,730,052		probably benign	Het
Ttc26	C	T	6: 38,425,231	P553S	probably benign	Het
Vmn2r4	C	A	3: 64,389,168	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,760,601	T602I	probably benign	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
IGL01288:Fam13a	APN	6	58956727	missense	probably damaging	1.00
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
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

2016-08-02