Mutagenetix > Incidental Mutations

Incidental Mutation 'R6275:Fam13a'

507572

Institutional Source

Beutler Lab

Gene Symbol

Fam13a

Ensembl Gene

ENSMUSG00000037709

Gene Name

family with sequence similarity 13, member A

Synonyms

D430015B01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58932090-59024549 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58954257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 446 (I446T)

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: I446T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: I446T

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: I446T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: I446T

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

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,285,368	D3936G	probably damaging	Het
Abca7	T	A	10: 79,997,791	L30H	probably damaging	Het
Abcb6	T	C	1: 75,172,551		probably null	Het
Acsbg1	T	A	9: 54,609,772	M586L	probably benign	Het
Ano6	A	T	15: 95,913,433	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,939,749	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,882,311	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,145,663	M144I	probably damaging	Het
Cdca3	C	T	6: 124,832,664		probably null	Het
Ces1h	A	T	8: 93,372,646	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,556,658	P126T	probably benign	Het
Dnah10	A	G	5: 124,785,184	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,667,582	N1147Y	possibly damaging	Het
Ermap	C	T	4: 119,178,550	V414M	probably damaging	Het
Fgfbp3	T	C	19: 36,918,753	H155R	possibly damaging	Het
Folr1	T	A	7: 101,859,535	N61I	probably damaging	Het
Fsip1	T	C	2: 118,205,102	I431V	probably benign	Het
Gm5039	T	C	12: 88,321,225	D86G	possibly damaging	Het
Gm5493	A	T	17: 22,750,070	E74D	probably benign	Het
Gm6803	T	C	12: 88,018,485	N96S	probably benign	Het
H2-Oa	A	G	17: 34,094,566	D197G	probably benign	Het
Hps1	T	C	19: 42,769,607	E169G	probably null	Het
Il17rc	A	T	6: 113,480,347	M372L	probably benign	Het
Itga10	A	G	3: 96,658,185	S1042G	probably benign	Het
Jchain	A	T	5: 88,521,353	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,327	T211A	probably benign	Het
Mal2	T	C	15: 54,571,639		probably null	Het
Mov10l1	T	A	15: 89,026,620	I1071N	probably damaging	Het
Mpp2	T	A	11: 102,060,969	Y401F	probably damaging	Het
Myh15	A	G	16: 49,145,247	T1172A	probably benign	Het
Olfr635	T	A	7: 103,979,974	S261T	probably damaging	Het
Pcnx	G	T	12: 81,918,607	S516I	probably benign	Het
Pidd1	C	T	7: 141,439,795	A685T	probably damaging	Het
Psg28	A	C	7: 18,430,440	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,438,632		probably benign	Het
Rapgefl1	T	A	11: 98,851,120	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,644,432	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,579,923		probably benign	Het
Sec62	A	G	3: 30,809,836	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,648,720	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,283,650	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc26a11	T	C	11: 119,359,299	F127L	probably benign	Het
Stac3	T	A	10: 127,507,746	Y252*	probably null	Het
Stoml3	G	A	3: 53,507,506	A240T	probably damaging	Het
Tanc1	A	T	2: 59,843,510	H1653L	probably benign	Het
Tll1	A	T	8: 64,051,367	L665*	probably null	Het
Tnr	A	C	1: 159,861,270	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,675,520	D165E	probably benign	Het
Tsc2	A	G	17: 24,600,420	V1185A	probably benign	Het
Tulp4	A	G	17: 6,198,736	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,218,765	M72K	possibly damaging	Het
Usp42	G	A	5: 143,714,972	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,199,991	L659*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGCCTGGAAAACAAGTG -3'
(R):5'- AAAGAAATCTGGGTTCAGCATACC -3'

Sequencing Primer
(F):5'- GTGGCAAAGCTATCAATACCAGTCTG -3'
(R):5'- AAATCTGGGTTCAGCATACCTCAGTC -3'

Posted On

2018-03-15