Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Fam131a'

603902

Institutional Source

Beutler Lab

Gene Symbol

Fam131a

Ensembl Gene

ENSMUSG00000050821

Gene Name

family with sequence similarity 131, member A

Synonyms

2900046G09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

RF021 (G1)

Quality Score

128.008

Status

Validated

Chromosome

Chromosomal Location

20511991-20521798 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 20513690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156118 (fasta)

Gene Model

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

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

SMART Domains

Protein: ENSMUSP00000060194
Gene: ENSMUSG00000050821

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

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: 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: ENSMUST00000149543

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: ENSMUST00000232207

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
Ankrd44	T	C	1: 54,817,471 (GRCm39)	H79R	probably damaging	Het
Atg9a	T	A	1: 75,159,273 (GRCm39)	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,630,905 (GRCm39)	V224A	probably benign	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Cpn2	G	A	16: 30,078,156 (GRCm39)	A515V	probably benign	Het
Cyp2a12	T	C	7: 26,734,785 (GRCm39)	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,327,752 (GRCm39)		probably benign	Het
Dnah10	G	T	5: 124,854,971 (GRCm39)	V2016F	probably damaging	Het
Dock10	T	C	1: 80,542,290 (GRCm39)		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,602,084 (GRCm39)		probably benign	Het
Gm7247	AGACCAGACC	A	14: 51,601,781 (GRCm39)		probably benign	Het
Gna13	T	C	11: 109,283,218 (GRCm39)	V186A	probably benign	Het
Grk3	T	A	5: 113,089,554 (GRCm39)	I333L	probably benign	Het
Gstp1	A	T	19: 4,085,507 (GRCm39)	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,453,289 (GRCm39)	V74G	possibly damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Kiz	A	G	2: 146,712,750 (GRCm39)	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,285,782 (GRCm39)		probably benign	Het
Lats1	A	G	10: 7,586,372 (GRCm39)	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 92,925,602 (GRCm39)		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,810,744 (GRCm39)		probably null	Het
Med12l	T	C	3: 58,980,711 (GRCm39)	F359S	probably benign	Het
Mmut	A	G	17: 41,262,649 (GRCm39)	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,219,333 (GRCm39)		probably benign	Het
Ngp	A	G	9: 110,250,824 (GRCm39)	T114A	possibly damaging	Het
Nlrc5	A	T	8: 95,203,516 (GRCm39)	T539S	probably benign	Het
Nxf1	A	G	19: 8,749,673 (GRCm39)	D190G	probably damaging	Het
Or6c2b	A	T	10: 128,948,211 (GRCm39)	F28I	probably damaging	Het
Or8g2	A	T	9: 39,821,341 (GRCm39)	M81L	probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,609,956 (GRCm39)	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 155,938,026 (GRCm39)		probably benign	Het
Sema3g	C	T	14: 30,949,798 (GRCm39)	H660Y	probably damaging	Het
Slco1a8	A	T	6: 141,954,440 (GRCm39)	V31E	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,608,397 (GRCm39)		probably benign	Het
Stpg2	A	T	3: 138,918,011 (GRCm39)		probably null	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tbcb	C	T	7: 29,923,771 (GRCm39)	V208M	probably damaging	Het
Tenm2	T	A	11: 35,915,030 (GRCm39)	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890 (GRCm39)	V108A	probably damaging	Het
Tmc8	T	C	11: 117,674,060 (GRCm39)	M42T	probably benign	Het
Trdc	T	C	14: 54,381,660 (GRCm39)	V115A		Het
Ttbk2	A	G	2: 120,579,115 (GRCm39)	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,223,553 (GRCm39)		probably benign	Het
Utp25	A	G	1: 192,802,974 (GRCm39)	F248L	probably benign	Het
Vps16	A	G	2: 130,280,129 (GRCm39)	H118R	probably benign	Het
Wdpcp	T	A	11: 21,661,587 (GRCm39)	C286*	probably null	Het
Zbed4	C	A	15: 88,665,439 (GRCm39)	Y502*	probably null	Het
Zdbf2	T	A	1: 63,341,811 (GRCm39)	N63K	possibly damaging	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
R3806:Fam131a	UTSW	16	20,514,608 (GRCm39)	missense	probably benign	0.45
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

Predicted Primers

PCR Primer
(F):5'- TTGAGTACCAGGTAGGCGTC -3'
(R):5'- AGCACAGAAATCATAGGCATGC -3'

Sequencing Primer
(F):5'- GCATAGCCAGTAACCTGTTTTC -3'
(R):5'- CTGGCTGTGTTGATGCAGAGAG -3'

Posted On

2019-12-04