Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Fam13a'

254623

Institutional Source

Beutler Lab

Gene Symbol

Fam13a

Ensembl Gene

ENSMUSG00000037709

Gene Name

family with sequence similarity 13, member A

Synonyms

D430015B01Rik

MMRRC Submission

040427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58932090-59024549 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58935609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 686 (R686S)

Ref Sequence

ENSEMBL: ENSMUSP00000087304 (fasta)

Gene Model

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

AlphaFold

Q8BGI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000089860
AA Change: R686S

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

SMART Domains

Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: R686S

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: R658S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: R658S

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,201,269 (GRCm38)	V1010A	possibly damaging	Het
4930563D23Rik	A	G	16: 92,321,319 (GRCm38)	L27P	probably damaging	Het
A730071L15Rik	A	T	11: 6,200,161 (GRCm38)		probably benign	Het
Abca13	A	T	11: 9,333,310 (GRCm38)	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,437,671 (GRCm38)	T219A	probably damaging	Het
Adgrg5	A	T	8: 94,934,021 (GRCm38)	N92I	probably damaging	Het
Agt	A	C	8: 124,556,955 (GRCm38)	V475G	probably damaging	Het
Akap6	A	G	12: 52,887,278 (GRCm38)	K518E	possibly damaging	Het
Apoh	T	G	11: 108,404,871 (GRCm38)	D133E	probably benign	Het
Axdnd1	T	A	1: 156,392,749 (GRCm38)	M234L	possibly damaging	Het
Cacna1d	A	G	14: 30,082,511 (GRCm38)	I1335T	probably damaging	Het
Cdh15	G	A	8: 122,862,024 (GRCm38)	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566 (GRCm38)	K444*	probably null	Het
Clasp2	A	G	9: 113,878,764 (GRCm38)	I614M	probably benign	Het
Col6a4	A	T	9: 106,063,076 (GRCm38)	D1218E	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236 (GRCm38)		probably null	Het
D130043K22Rik	C	T	13: 24,883,891 (GRCm38)	T870M	probably damaging	Het
Dagla	C	A	19: 10,248,152 (GRCm38)	A883S	probably benign	Het
Dhx30	A	G	9: 110,097,195 (GRCm38)	V87A	probably damaging	Het
Dtx1	C	A	5: 120,710,184 (GRCm38)	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,530,129 (GRCm38)	S528T	possibly damaging	Het
Egfem1	A	T	3: 29,582,931 (GRCm38)	N172I	probably damaging	Het
Fam102b	T	A	3: 108,978,848 (GRCm38)	N356I	probably benign	Het
Fmo1	T	A	1: 162,836,259 (GRCm38)	I234L	probably benign	Het
Foxj2	C	T	6: 122,828,372 (GRCm38)	R68W	probably damaging	Het
Foxo6	A	T	4: 120,268,764 (GRCm38)	M278K	probably benign	Het
Fsip2	A	G	2: 82,990,431 (GRCm38)	S5503G	probably benign	Het
Gdf5	C	G	2: 155,942,090 (GRCm38)	R100G	probably benign	Het
Il1b	A	T	2: 129,367,322 (GRCm38)	D129E	probably damaging	Het
Klhl29	A	G	12: 5,091,350 (GRCm38)	S545P	probably damaging	Het
Krt83	G	T	15: 101,487,827 (GRCm38)	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,708,812 (GRCm38)	S509R	probably damaging	Het
Lmod1	A	T	1: 135,363,964 (GRCm38)	K186*	probably null	Het
Lrpprc	C	T	17: 84,726,649 (GRCm38)	A973T	probably damaging	Het
Marco	T	C	1: 120,494,785 (GRCm38)	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,722,018 (GRCm38)	N394S	probably null	Het
Myo5a	A	G	9: 75,123,040 (GRCm38)	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,151,897 (GRCm38)	V469A	probably damaging	Het
Myot	A	G	18: 44,337,216 (GRCm38)	T87A	probably benign	Het
Nav2	A	G	7: 49,597,564 (GRCm38)	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112 (GRCm38)	E1037G	possibly damaging	Het
Olfr181	A	G	16: 58,925,923 (GRCm38)	V216A	probably benign	Het
Olfr341	T	C	2: 36,479,974 (GRCm38)	D52G	probably damaging	Het
Olfr677	A	G	7: 105,056,671 (GRCm38)	T142A	probably benign	Het
Pitrm1	G	T	13: 6,575,092 (GRCm38)	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781 (GRCm38)		probably benign	Het
Prdx1	T	G	4: 116,693,800 (GRCm38)	I156S	probably benign	Het
Rbks	T	A	5: 31,665,752 (GRCm38)	T107S	probably damaging	Het
Ryr3	G	A	2: 112,675,874 (GRCm38)	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,273,469 (GRCm38)	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,615,648 (GRCm38)	V214A	probably benign	Het
Slc35c1	T	C	2: 92,458,880 (GRCm38)	N94D	probably benign	Het
Sorbs2	A	T	8: 45,795,370 (GRCm38)	K553*	probably null	Het
Tectb	C	G	19: 55,180,999 (GRCm38)		probably benign	Het
Thg1l	A	G	11: 45,951,565 (GRCm38)	V142A	probably benign	Het
Tiparp	T	A	3: 65,553,130 (GRCm38)	Y513*	probably null	Het
Tmc6	A	G	11: 117,772,820 (GRCm38)	V522A	probably benign	Het
Trim39	T	A	17: 36,269,164 (GRCm38)		probably benign	Het
Trrap	G	A	5: 144,843,369 (GRCm38)		probably null	Het
Tulp3	C	T	6: 128,327,638 (GRCm38)	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,776,971 (GRCm38)	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,742,188 (GRCm38)	Y833*	probably null	Het
Zfp810	A	T	9: 22,279,238 (GRCm38)	S125T	probably benign	Het

Other mutations in Fam13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00265:Fam13a	APN	6	58,946,126 (GRCm38)	missense	probably benign	0.03
IGL00467:Fam13a	APN	6	58,940,113 (GRCm38)	splice site	probably benign
IGL01288:Fam13a	APN	6	58,956,727 (GRCm38)	missense	probably damaging	1.00
IGL01503:Fam13a	APN	6	58,956,080 (GRCm38)	missense	probably damaging	1.00
IGL01532:Fam13a	APN	6	58,940,295 (GRCm38)	missense	probably damaging	0.96
IGL02197:Fam13a	APN	6	58,935,601 (GRCm38)	missense	possibly damaging	0.65
IGL02206:Fam13a	APN	6	58,987,219 (GRCm38)	missense	probably benign	0.00
IGL03189:Fam13a	APN	6	58,956,858 (GRCm38)	missense	probably damaging	0.99
BB009:Fam13a	UTSW	6	58,983,888 (GRCm38)	critical splice donor site	probably null
BB019:Fam13a	UTSW	6	58,983,888 (GRCm38)	critical splice donor site	probably null
R0361:Fam13a	UTSW	6	58,987,174 (GRCm38)	missense	probably benign
R0512:Fam13a	UTSW	6	58,956,699 (GRCm38)	missense	probably damaging	1.00
R0801:Fam13a	UTSW	6	58,984,012 (GRCm38)	missense	probably benign	0.01
R1222:Fam13a	UTSW	6	58,935,722 (GRCm38)	splice site	probably benign
R1378:Fam13a	UTSW	6	58,956,751 (GRCm38)	missense	probably benign	0.04
R1535:Fam13a	UTSW	6	58,939,347 (GRCm38)	missense	probably damaging	0.99
R1614:Fam13a	UTSW	6	58,940,184 (GRCm38)	missense	probably damaging	1.00
R1663:Fam13a	UTSW	6	58,954,372 (GRCm38)	nonsense	probably null
R1809:Fam13a	UTSW	6	58,965,060 (GRCm38)	critical splice donor site	probably null
R1905:Fam13a	UTSW	6	58,953,490 (GRCm38)	missense	probably damaging	1.00
R3771:Fam13a	UTSW	6	58,987,186 (GRCm38)	missense	probably benign	0.11
R4654:Fam13a	UTSW	6	58,987,167 (GRCm38)	missense	probably benign
R5244:Fam13a	UTSW	6	58,953,474 (GRCm38)	nonsense	probably null
R5488:Fam13a	UTSW	6	59,024,318 (GRCm38)	missense	probably null	1.00
R5489:Fam13a	UTSW	6	59,024,318 (GRCm38)	missense	probably null	1.00
R5712:Fam13a	UTSW	6	58,956,699 (GRCm38)	missense	probably damaging	1.00
R5729:Fam13a	UTSW	6	58,939,307 (GRCm38)	missense	probably damaging	0.99
R5969:Fam13a	UTSW	6	58,965,198 (GRCm38)	missense	probably damaging	1.00
R6074:Fam13a	UTSW	6	58,989,738 (GRCm38)	splice site	probably null
R6275:Fam13a	UTSW	6	58,954,257 (GRCm38)	missense	probably damaging	0.98
R6306:Fam13a	UTSW	6	58,940,254 (GRCm38)	missense	probably benign	0.02
R6338:Fam13a	UTSW	6	58,953,499 (GRCm38)	missense	probably damaging	1.00
R6603:Fam13a	UTSW	6	58,987,189 (GRCm38)	missense	probably benign	0.31
R7508:Fam13a	UTSW	6	58,987,284 (GRCm38)	missense	probably damaging	1.00
R7516:Fam13a	UTSW	6	58,955,263 (GRCm38)	missense	probably damaging	1.00
R7688:Fam13a	UTSW	6	58,935,707 (GRCm38)	missense	probably benign	0.05
R7728:Fam13a	UTSW	6	58,954,299 (GRCm38)	missense	possibly damaging	0.79
R7932:Fam13a	UTSW	6	58,983,888 (GRCm38)	critical splice donor site	probably null
R8080:Fam13a	UTSW	6	58,956,805 (GRCm38)	missense	probably damaging	1.00
R9494:Fam13a	UTSW	6	58,953,523 (GRCm38)	missense	probably benign	0.00
R9671:Fam13a	UTSW	6	58,974,029 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTTTCTAAGGCAGGCAATGG -3'
(R):5'- CAAGAGTCAGCTGTCAACAGTG -3'

Sequencing Primer
(F):5'- TGGAAGCAGGAGTCAATCTG -3'
(R):5'- ATGATCATCCCTGGTGAATTGTAGCC -3'

Posted On

2014-12-04