Mutagenetix > Incidental Mutations

Incidental Mutation 'RF038:Fam71e1'

604665

Institutional Source

Beutler Lab

Gene Symbol

Fam71e1

Ensembl Gene

ENSMUSG00000051113

Gene Name

family with sequence similarity 71, member E1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

RF038 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

44496581-44501486 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGGGTCTGAGGGAGGA to TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA at 44500522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107927] [ENSMUST00000118515] [ENSMUST00000118808] [ENSMUST00000138328] [ENSMUST00000165208] [ENSMUST00000205359] [ENSMUST00000205422] [ENSMUST00000206398]

AlphaFold

A1L3C1

Predicted Effect

probably benign
Transcript: ENSMUST00000107927

SMART Domains

Protein: ENSMUSP00000103560
Gene: ENSMUSG00000051113

Domain	Start	End	E-Value	Type
low complexity region	70	85	N/A	INTRINSIC
Pfam:DUF3699	91	160	5.6e-20	PFAM
coiled coil region	164	191	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118515

SMART Domains

Protein: ENSMUSP00000113141
Gene: ENSMUSG00000008140

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
low complexity region	239	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118808

SMART Domains

Protein: ENSMUSP00000113509
Gene: ENSMUSG00000008140

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
transmembrane domain	221	243	N/A	INTRINSIC
low complexity region	246	255	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138328

SMART Domains

Protein: ENSMUSP00000116293
Gene: ENSMUSG00000008140

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	154	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165208

SMART Domains

Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670

Domain	Start	End	E-Value	Type
low complexity region	2	37	N/A	INTRINSIC
IG	54	150	6.26e-5	SMART
PDB:2LHU\|A	160	236	7e-9	PDB
low complexity region	237	252	N/A	INTRINSIC
IG	258	337	5.21e-2	SMART
IG	347	430	1.2e-1	SMART
IG	440	526	2.72e-5	SMART
IG	546	631	1.68e-5	SMART
FN3	634	717	3.29e-11	SMART
FN3	732	815	1.23e-10	SMART
IG	842	925	6.07e-3	SMART
FN3	928	1010	2.08e-8	SMART
IGc2	1055	1122	6.91e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000205359

Predicted Effect

probably benign
Transcript: ENSMUST00000205422

Predicted Effect

probably benign
Transcript: ENSMUST00000206398

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
4930402H24Rik	CTC	CTCATC	2: 130,770,744	probably null	Het
A030005L19Rik	TGT	TGTAGCTGCGGT	1: 82,913,580	probably benign	Het
Abcf1	CTCTTC	CTC	17: 35,963,201	probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,905,092	probably benign	Het
AI837181	GGC	GGCAGC	19: 5,425,226	probably benign	Het
AI837181	GCG	GCGACG	19: 5,425,236	probably benign	Het
Cdx1	CTGCTG	CTGCTGGTGCTG	18: 61,019,870	probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACACACACACTGCGCAGGGA	9: 87,040,442	probably benign	Het
Dbr1	GAGGAG	GAGGAGAAGGAG	9: 99,583,697	probably benign	Het
Dmkn	GTGGAAGTGGTGG	GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG	7: 30,767,194	probably benign	Het
Enah	TGGCGGCGG	TGG	1: 181,921,935	probably benign	Het
Fam45a	ACTC	ACTCCTC	19: 60,814,618	probably benign	Het
Flywch1	ACCCACTCCTGGTGT	ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT	17: 23,762,164	probably null	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,657,396	probably benign	Het
Fscb	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	12: 64,472,569	probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,994,008	probably null	Het
Gas1	CGAGGA	CGAGGAGGA	13: 60,176,528	probably benign	Het
Gas1	AG	AGATG	13: 60,176,530	probably benign	Het
Gm15155	CAAAAA	CAAAAACAAAAAA	X: 156,345,640	probably null	Het
Habp4	TGAGG	TG	13: 64,162,162	probably benign	Het
Hsdl2	CACAGCTGCAG	CACAGCTGCAGCAGCAGCGACAGCTGCAG	4: 59,610,648	probably benign	Het
Il2	CTT	CTTCAAGTGGGGATT	3: 37,125,821	probably null	Het
Ivl	CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,572,300	probably benign	Het
Krtap28-10	CA	CAACCAAA	1: 83,042,128	probably benign	Het
Krtap28-10	CAGCCACAGCCACCACAGCCACAGCCACCA	CAGCCACAGCCACCAAAGCCACAGCCACCACAGCCACAGCCACCA	1: 83,042,257	probably benign	Het
Lmx1b	CATCTTGATGCCGTCCAA	C	2: 33,640,509	probably null	Het
Lrmp	TG	TGAGCACATCG	6: 145,173,790	probably benign	Het
Mamld1	CAG	CAGGAG	X: 71,118,846	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,012	probably benign	Het
Nefh	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,018	probably benign	Het
Nefh	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,019	probably benign	Het
Nefh	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,027	probably benign	Het
Nefh	GGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,029	probably benign	Het
Nefh	CTCACCTGGGGACTTGGC	CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC	11: 4,941,040	probably benign	Het
Pabpc6	AGCTGC	AGC	17: 9,668,115	probably benign	Het
Pkhd1l1	TTTTTT	TTTTTTTTGTTTTT	15: 44,558,503	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,608,924	probably benign	Het
Rassf6	GCAATGGGGATTC	GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC	5: 90,608,930	probably benign	Het
Rbm12	CAGGTATTGCGGGACC	CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC	2: 156,096,106	probably benign	Het
Sbp	AAGATG	AAGATGCTGACAACACAGATG	17: 23,945,384	probably benign	Het
Strn	CCCAGTC	CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC	17: 78,677,282	probably null	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,727,647	probably benign	Het
Tcof1	TCCCAGAGATCCCC	TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC	18: 60,833,566	probably benign	Het
Tfeb	AGC	AGCGGC	17: 47,786,105	probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,112	probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTCCTGCTGCT	15: 72,801,323	probably benign	Het
Zfhx3	CAGCA	CAGCACCAGAAGCA	8: 108,956,101	probably benign	Het

Other mutations in Fam71e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1355:Fam71e1	UTSW	7	44496691	missense	possibly damaging	0.82
R5308:Fam71e1	UTSW	7	44500182	missense	probably damaging	1.00
R5568:Fam71e1	UTSW	7	44501004	missense	probably damaging	0.99
R6038:Fam71e1	UTSW	7	44500295	missense	probably damaging	1.00
R6038:Fam71e1	UTSW	7	44500295	missense	probably damaging	1.00
R8136:Fam71e1	UTSW	7	44500280	missense	probably damaging	0.99
R8994:Fam71e1	UTSW	7	44496918	missense	probably benign	0.09
RF002:Fam71e1	UTSW	7	44500520	nonsense	probably null
RF003:Fam71e1	UTSW	7	44500527	frame shift	probably null
RF013:Fam71e1	UTSW	7	44500520	frame shift	probably null
RF015:Fam71e1	UTSW	7	44500522	frame shift	probably null
RF017:Fam71e1	UTSW	7	44500525	frame shift	probably null
RF017:Fam71e1	UTSW	7	44500531	frame shift	probably null
RF020:Fam71e1	UTSW	7	44500535	frame shift	probably null
RF034:Fam71e1	UTSW	7	44500523	frame shift	probably null
RF040:Fam71e1	UTSW	7	44500521	frame shift	probably null
RF040:Fam71e1	UTSW	7	44500531	frame shift	probably null
RF045:Fam71e1	UTSW	7	44500532	frame shift	probably null
RF047:Fam71e1	UTSW	7	44500529	frame shift	probably null
RF047:Fam71e1	UTSW	7	44500536	frame shift	probably null
RF050:Fam71e1	UTSW	7	44500521	frame shift	probably null
RF051:Fam71e1	UTSW	7	44500523	frame shift	probably null
RF055:Fam71e1	UTSW	7	44500533	nonsense	probably null
RF056:Fam71e1	UTSW	7	44500527	frame shift	probably null
RF057:Fam71e1	UTSW	7	44500532	frame shift	probably null
RF060:Fam71e1	UTSW	7	44500525	frame shift	probably null
RF060:Fam71e1	UTSW	7	44500533	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTTCTACTTGCAACTGCG -3'
(R):5'- ACCTGGGCTAACAATATCAGCC -3'

Sequencing Primer
(F):5'- TGCCCTTCACGCACGAG -3'
(R):5'- GCCACACAGTCCCTAGTCTG -3'

Posted On

2019-12-04