Mutagenetix > Incidental Mutation

Incidental Mutation 'R7867:Fam131a'

607874

Institutional Source

Beutler Lab

Gene Symbol

Fam131a

Ensembl Gene

ENSMUSG00000050821

Gene Name

family with sequence similarity 131, member A

Synonyms

2900046G09Rik

MMRRC Submission

045919-MU

Accession Numbers

Essential gene?

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

Stock #

R7867 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20511991-20521798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20514584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 62 (S62G)

Ref Sequence

ENSEMBL: ENSMUSP00000060194 (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
AA Change: S62G

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000060194
Gene: ENSMUSG00000050821
AA Change: S62G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,212,139 (GRCm39)		probably null	Het
Abcf1	C	A	17: 36,272,890 (GRCm39)	K252N	probably damaging	Het
Abi3	C	T	11: 95,724,851 (GRCm39)	A211T	possibly damaging	Het
Acaca	A	T	11: 84,140,350 (GRCm39)	D608V	possibly damaging	Het
Akap10	A	G	11: 61,791,272 (GRCm39)	Y396H	probably damaging	Het
Ap3b1	C	G	13: 94,619,771 (GRCm39)	S778W	unknown	Het
Arb2a	T	C	13: 78,050,837 (GRCm39)	M165T	probably benign	Het
Baat	G	A	4: 49,502,925 (GRCm39)	L66F	probably benign	Het
Cachd1	A	G	4: 100,845,759 (GRCm39)	N981S	probably damaging	Het
Cacna1c	C	T	6: 118,753,407 (GRCm39)	R243H		Het
Cdh23	T	A	10: 60,150,390 (GRCm39)	I2527F	probably damaging	Het
Cinp	A	G	12: 110,840,557 (GRCm39)	V198A	probably benign	Het
Clec4d	T	C	6: 123,244,123 (GRCm39)		probably null	Het
Cnn3	A	G	3: 121,248,704 (GRCm39)	I204V	probably benign	Het
Cpxm2	C	A	7: 131,650,800 (GRCm39)	G620V	probably damaging	Het
Ctrl	A	C	8: 106,659,497 (GRCm39)	S93A	probably benign	Het
Cyp2d34	A	G	15: 82,501,425 (GRCm39)	V301A	possibly damaging	Het
Dnaaf5	G	T	5: 139,147,565 (GRCm39)	K376N	probably damaging	Het
Eno2	C	T	6: 124,740,137 (GRCm39)	D300N	probably damaging	Het
Entrep3	T	A	3: 89,093,083 (GRCm39)	Y280*	probably null	Het
Fam117b	T	A	1: 60,014,046 (GRCm39)	N440K	probably damaging	Het
Fancm	T	A	12: 65,163,240 (GRCm39)		probably null	Het
Fancm	A	G	12: 65,165,173 (GRCm39)	D1506G	probably benign	Het
Fhad1	C	A	4: 141,632,902 (GRCm39)	V1201L	probably benign	Het
Gdpd4	T	A	7: 97,623,185 (GRCm39)	C265*	probably null	Het
Gm3127	A	T	14: 15,425,888 (GRCm39)	T98S	probably null	Het
Gpsm1	A	T	2: 26,230,448 (GRCm39)	D466V	probably benign	Het
Gramd1a	T	G	7: 30,842,992 (GRCm39)	K76Q	probably damaging	Het
Gstp3	T	C	19: 4,108,808 (GRCm39)	D24G	probably damaging	Het
Kalrn	G	A	16: 33,810,161 (GRCm39)	T2531I	possibly damaging	Het
Klk7	C	A	7: 43,462,333 (GRCm39)	D108E	probably damaging	Het
Klkb1	A	G	8: 45,740,002 (GRCm39)	S97P	probably damaging	Het
Krt13	T	C	11: 100,012,008 (GRCm39)	D105G	probably damaging	Het
Lingo2	T	A	4: 35,709,302 (GRCm39)	H226L	probably benign	Het
Lrba	T	C	3: 86,275,896 (GRCm39)	S1755P	probably damaging	Het
Marf1	A	G	16: 13,946,470 (GRCm39)	V1217A	probably damaging	Het
Mtss1	A	T	15: 58,842,858 (GRCm39)	V118E	possibly damaging	Het
Mug1	T	A	6: 121,850,593 (GRCm39)	D696E	probably benign	Het
Ndufa3	C	T	7: 3,623,003 (GRCm39)	P56L	probably damaging	Het
Nop56	T	A	2: 130,120,205 (GRCm39)	C471S	possibly damaging	Het
Obscn	T	A	11: 58,891,652 (GRCm39)	H6960L	unknown	Het
Or13a22	C	T	7: 140,073,049 (GRCm39)	T166I	probably benign	Het
Pcdhb10	A	C	18: 37,546,619 (GRCm39)	Q565P	probably benign	Het
Pde6g	T	A	11: 120,338,953 (GRCm39)	H79L	possibly damaging	Het
Phrf1	G	T	7: 140,836,524 (GRCm39)	M265I	unknown	Het
Pkd2	T	C	5: 104,630,986 (GRCm39)	F470S	probably damaging	Het
Plekhm1	T	A	11: 103,271,153 (GRCm39)	D446V	probably damaging	Het
Prkaca	A	T	8: 84,721,963 (GRCm39)	T325S	probably benign	Het
Proz	A	T	8: 13,111,027 (GRCm39)		probably benign	Het
Pten	T	C	19: 32,792,894 (GRCm39)	F238L	probably benign	Het
Ptpn21	G	A	12: 98,671,435 (GRCm39)	L198F	probably damaging	Het
Rbm5	A	T	9: 107,628,930 (GRCm39)	S394T	probably benign	Het
Scaf8	T	G	17: 3,227,994 (GRCm39)	S408A	unknown	Het
Slc41a3	T	A	6: 90,617,909 (GRCm39)	F312I	probably damaging	Het
Soat2	T	A	15: 102,059,598 (GRCm39)		probably null	Het
Sorcs1	C	A	19: 50,218,698 (GRCm39)	G595*	probably null	Het
Spopfm1	G	C	3: 94,173,154 (GRCm39)	S50T	probably benign	Het
Stox1	G	T	10: 62,500,723 (GRCm39)	D612E	probably benign	Het
Suco	T	C	1: 161,665,365 (GRCm39)	I530M	possibly damaging	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Thbd	G	A	2: 148,249,664 (GRCm39)	A68V	probably damaging	Het
Tmem109	A	T	19: 10,855,466 (GRCm39)	M4K	unknown	Het
Tmub1	G	C	5: 24,651,664 (GRCm39)	P85R	possibly damaging	Het
Tnk2	A	C	16: 32,500,053 (GRCm39)	Q1039H	probably damaging	Het
Tpm3	T	C	3: 89,993,775 (GRCm39)	L89S	probably damaging	Het
Unc13b	C	T	4: 43,232,573 (GRCm39)	R432*	probably null	Het
Vmn2r59	T	A	7: 41,661,707 (GRCm39)	I703F	probably damaging	Het
Xylt1	T	A	7: 117,074,749 (GRCm39)	I122N	probably benign	Het
Zc3h12c	T	C	9: 52,055,248 (GRCm39)	E187G	probably 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
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'- CAGATTGTCTGCGAGATGGG -3'
(R):5'- ATCACCATGCAACAGGGTC -3'

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

Posted On

2019-12-20