Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Fam131a'

274625

Institutional Source

Beutler Lab

Gene Symbol

Fam131a

Ensembl Gene

ENSMUSG00000050821

Gene Name

family with sequence similarity 131, member A

Synonyms

2900046G09Rik

MMRRC Submission

040763-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R3806 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

20511991-20521798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20514608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 70 (V70M)

Ref Sequence

ENSEMBL: ENSMUSP00000060194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044783] [ENSMUST00000056518] [ENSMUST00000073840] [ENSMUST00000115457] [ENSMUST00000115460] [ENSMUST00000115461] [ENSMUST00000115463] [ENSMUST00000232207] [ENSMUST00000128273] [ENSMUST00000143939] [ENSMUST00000118919] [ENSMUST00000156226] [ENSMUST00000149543]

AlphaFold

Q8BWU3

Predicted Effect

probably benign
Transcript: ENSMUST00000044783

SMART Domains

Protein: ENSMUSP00000047678
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	60	81	N/A	INTRINSIC
PDB:1LJ2\|D	179	206	1e-10	PDB
low complexity region	260	286	N/A	INTRINSIC
low complexity region	436	457	N/A	INTRINSIC
low complexity region	464	487	N/A	INTRINSIC
Blast:MIF4G	638	683	7e-9	BLAST
low complexity region	685	707	N/A	INTRINSIC
MIF4G	765	993	5.14e-72	SMART
low complexity region	1035	1047	N/A	INTRINSIC
low complexity region	1092	1106	N/A	INTRINSIC
low complexity region	1157	1178	N/A	INTRINSIC
low complexity region	1186	1201	N/A	INTRINSIC
MA3	1242	1354	3.83e-39	SMART
low complexity region	1441	1452	N/A	INTRINSIC
eIF5C	1508	1595	3.78e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056518
AA Change: V70M

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060194
Gene: ENSMUSG00000050821
AA Change: V70M

Domain	Start	End	E-Value	Type
low complexity region	45	60	N/A	INTRINSIC
Pfam:FAM131	80	356	6.4e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073840

SMART Domains

Protein: ENSMUSP00000073506
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC
PDB:1LJ2\|D	172	199	1e-10	PDB
low complexity region	253	279	N/A	INTRINSIC
low complexity region	429	450	N/A	INTRINSIC
low complexity region	457	480	N/A	INTRINSIC
Blast:MIF4G	631	676	7e-9	BLAST
low complexity region	678	700	N/A	INTRINSIC
MIF4G	758	986	5.14e-72	SMART
low complexity region	1028	1040	N/A	INTRINSIC
low complexity region	1085	1099	N/A	INTRINSIC
low complexity region	1150	1171	N/A	INTRINSIC
low complexity region	1179	1194	N/A	INTRINSIC
MA3	1235	1347	3.83e-39	SMART
low complexity region	1434	1445	N/A	INTRINSIC
eIF5C	1501	1588	3.78e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115457

SMART Domains

Protein: ENSMUSP00000111117
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
PDB:1LJ2\|D	132	159	9e-11	PDB
low complexity region	213	239	N/A	INTRINSIC
low complexity region	389	410	N/A	INTRINSIC
low complexity region	417	440	N/A	INTRINSIC
Blast:MIF4G	591	636	7e-9	BLAST
low complexity region	638	660	N/A	INTRINSIC
MIF4G	718	946	5.14e-72	SMART
low complexity region	988	1000	N/A	INTRINSIC
low complexity region	1045	1059	N/A	INTRINSIC
low complexity region	1110	1131	N/A	INTRINSIC
low complexity region	1139	1154	N/A	INTRINSIC
MA3	1195	1307	3.83e-39	SMART
low complexity region	1394	1405	N/A	INTRINSIC
eIF5C	1461	1548	3.78e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115460

SMART Domains

Protein: ENSMUSP00000111120
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	60	81	N/A	INTRINSIC
PDB:1LJ2\|D	179	206	1e-10	PDB
low complexity region	260	286	N/A	INTRINSIC
low complexity region	436	457	N/A	INTRINSIC
low complexity region	464	487	N/A	INTRINSIC
Blast:MIF4G	638	683	7e-9	BLAST
low complexity region	685	707	N/A	INTRINSIC
MIF4G	765	993	5.14e-72	SMART
low complexity region	1035	1047	N/A	INTRINSIC
low complexity region	1092	1106	N/A	INTRINSIC
low complexity region	1157	1178	N/A	INTRINSIC
low complexity region	1186	1201	N/A	INTRINSIC
MA3	1242	1354	3.83e-39	SMART
low complexity region	1441	1452	N/A	INTRINSIC
eIF5C	1508	1595	3.78e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115461

SMART Domains

Protein: ENSMUSP00000111121
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC
PDB:1LJ2\|D	172	199	1e-10	PDB
low complexity region	253	279	N/A	INTRINSIC
low complexity region	429	450	N/A	INTRINSIC
low complexity region	457	480	N/A	INTRINSIC
Blast:MIF4G	631	676	8e-9	BLAST
low complexity region	678	693	N/A	INTRINSIC
MIF4G	759	987	5.14e-72	SMART
low complexity region	1029	1041	N/A	INTRINSIC
low complexity region	1086	1100	N/A	INTRINSIC
low complexity region	1151	1172	N/A	INTRINSIC
low complexity region	1180	1195	N/A	INTRINSIC
MA3	1236	1348	3.83e-39	SMART
low complexity region	1435	1446	N/A	INTRINSIC
eIF5C	1502	1589	3.78e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115463

SMART Domains

Protein: ENSMUSP00000111123
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC
PDB:1LJ2\|D	172	199	1e-10	PDB
low complexity region	253	279	N/A	INTRINSIC
low complexity region	429	450	N/A	INTRINSIC
low complexity region	457	480	N/A	INTRINSIC
Blast:MIF4G	631	676	7e-9	BLAST
low complexity region	678	700	N/A	INTRINSIC
MIF4G	758	986	5.14e-72	SMART
low complexity region	1030	1036	N/A	INTRINSIC
low complexity region	1078	1092	N/A	INTRINSIC
low complexity region	1143	1164	N/A	INTRINSIC
low complexity region	1172	1187	N/A	INTRINSIC
MA3	1228	1340	3.83e-39	SMART
low complexity region	1427	1438	N/A	INTRINSIC
eIF5C	1494	1581	3.78e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132320

Predicted Effect

probably benign
Transcript: ENSMUST00000232207

Predicted Effect

probably benign
Transcript: ENSMUST00000128273

SMART Domains

Protein: ENSMUSP00000120596
Gene: ENSMUSG00000050821

Domain	Start	End	E-Value	Type
Pfam:FAM131	1	202	4e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143939

SMART Domains

Protein: ENSMUSP00000144320
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	139	160	N/A	INTRINSIC
low complexity region	167	190	N/A	INTRINSIC
Blast:MIF4G	341	386	6e-9	BLAST
low complexity region	388	410	N/A	INTRINSIC
MIF4G	468	696	2.2e-74	SMART
low complexity region	738	750	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
low complexity region	860	881	N/A	INTRINSIC
low complexity region	889	904	N/A	INTRINSIC
MA3	945	1057	1.7e-41	SMART
low complexity region	1144	1155	N/A	INTRINSIC
eIF5C	1211	1298	1.8e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118919

SMART Domains

Protein: ENSMUSP00000113719
Gene: ENSMUSG00000050821

Domain	Start	End	E-Value	Type
Pfam:FAM131	1	271	4e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156226

SMART Domains

Protein: ENSMUSP00000119215
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149543

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Akap9	A	G	5: 4,004,410 (GRCm39)	N108S	probably benign	Het
Ankmy1	A	G	1: 92,811,480 (GRCm39)	I636T	possibly damaging	Het
Bbs9	T	A	9: 22,798,926 (GRCm39)	D851E	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Ccdc175	T	C	12: 72,227,598 (GRCm39)	T62A	possibly damaging	Het
Cfhr4	T	A	1: 139,680,773 (GRCm39)	K248N	probably damaging	Het
Clcnka	T	C	4: 141,114,601 (GRCm39)	E615G	probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cpxm2	C	T	7: 131,681,820 (GRCm39)	M236I	probably benign	Het
Dhrs2	A	T	14: 55,472,205 (GRCm39)	N32I	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,317,891 (GRCm39)	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,735,183 (GRCm39)	T315A	probably benign	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965 (GRCm39)	Q18*	probably null	Het
Hemk1	T	A	9: 107,214,229 (GRCm39)	I68F	probably damaging	Het
Herc3	C	A	6: 58,893,835 (GRCm39)	H970Q	probably damaging	Het
Ighv5-17	C	A	12: 113,822,918 (GRCm39)	A68S	probably benign	Het
Ip6k3	T	C	17: 27,363,974 (GRCm39)	H358R	probably damaging	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Kmt2a	C	T	9: 44,731,653 (GRCm39)		probably benign	Het
Krt16	G	T	11: 100,139,566 (GRCm39)	R51S	unknown	Het
Lamtor1	G	A	7: 101,560,552 (GRCm39)	V156I	probably damaging	Het
Lingo4	A	G	3: 94,309,407 (GRCm39)	D115G	probably damaging	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Maco1	C	T	4: 134,557,891 (GRCm39)	M207I	probably benign	Het
Man1c1	A	T	4: 134,430,662 (GRCm39)	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,224,221 (GRCm39)	N145S	probably benign	Het
Morf4l1	A	G	9: 89,977,196 (GRCm39)	S203P	probably benign	Het
Muc5ac	T	C	7: 141,367,471 (GRCm39)	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,289,142 (GRCm39)	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,532,505 (GRCm39)	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,104,271 (GRCm39)	E44G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Or4ac1-ps1	A	T	2: 88,370,700 (GRCm39)		noncoding transcript	Het
Or5d18	A	G	2: 87,864,911 (GRCm39)	S191P	possibly damaging	Het
Otof	T	A	5: 30,543,843 (GRCm39)		probably null	Het
Pcdha2	G	A	18: 37,072,582 (GRCm39)	R71H	probably benign	Het
Pcdha2	G	T	18: 37,074,744 (GRCm39)	E792*	probably null	Het
Pcnx1	A	G	12: 81,996,911 (GRCm39)	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,096,640 (GRCm39)	Y122H	probably damaging	Het
Psg16	A	G	7: 16,824,609 (GRCm39)	E131G	probably benign	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Rab6a	A	G	7: 100,257,431 (GRCm39)	M1V	probably null	Het
Ripk3	T	C	14: 56,023,725 (GRCm39)	R29G	probably benign	Het
Robo4	A	T	9: 37,315,734 (GRCm39)	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,071,614 (GRCm39)	V423A	possibly damaging	Het
Rxylt1	A	T	10: 121,917,514 (GRCm39)	V333E	possibly damaging	Het
Scgb2b18	T	G	7: 32,872,563 (GRCm39)	M81L	probably benign	Het
Slc24a2	A	T	4: 87,146,021 (GRCm39)	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,248,019 (GRCm39)	E325G	probably benign	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Them6	A	G	15: 74,593,367 (GRCm39)	D75G	probably damaging	Het
Tnrc18	G	A	5: 142,773,029 (GRCm39)	A417V	unknown	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zbtb22	C	T	17: 34,135,920 (GRCm39)		probably benign	Het
Zfp235	A	G	7: 23,840,046 (GRCm39)	D225G	probably benign	Het

Other mutations in Fam131a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0141:Fam131a	UTSW	16	20,517,738 (GRCm39)	missense	probably benign	0.30
R3607:Fam131a	UTSW	16	20,520,345 (GRCm39)	missense	probably damaging	1.00
R5672:Fam131a	UTSW	16	20,518,389 (GRCm39)	missense	probably damaging	1.00
R7485:Fam131a	UTSW	16	20,520,444 (GRCm39)	missense	probably benign	0.06
R7867:Fam131a	UTSW	16	20,514,584 (GRCm39)	missense	probably benign	0.05
R9282:Fam131a	UTSW	16	20,520,243 (GRCm39)	missense	possibly damaging	0.91
R9308:Fam131a	UTSW	16	20,520,582 (GRCm39)	missense	probably damaging	0.99
RF021:Fam131a	UTSW	16	20,513,690 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGTGAAAATGGCAGTCTTG -3'
(R):5'- TCACCATGCAACAGGGTCTC -3'

Sequencing Primer
(F):5'- CAGTCTTGGTAGAAGTGGGAATGC -3'
(R):5'- CTGACGTCAGCACCGAAG -3'

Posted On

2015-04-02