Mutagenetix > Incidental Mutations

Incidental Mutation 'R8136:Fam71e1'

632259

Institutional Source

Beutler Lab

Gene Symbol

Fam71e1

Ensembl Gene

ENSMUSG00000051113

Gene Name

family with sequence similarity 71, member E1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R8136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44496581-44501486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44500280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 142 (F142L)

Ref Sequence

ENSEMBL: ENSMUSP00000103560 (fasta)

Gene Model

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

AlphaFold

A1L3C1

Predicted Effect

probably damaging
Transcript: ENSMUST00000107927
AA Change: F142L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103560
Gene: ENSMUSG00000051113
AA Change: F142L

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 damaging
Transcript: ENSMUST00000205359
AA Change: F142L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000205422

Predicted Effect

probably benign
Transcript: ENSMUST00000206398

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.7%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,248,397	M2462L	probably benign	Het
Aptx	A	G	4: 40,688,107		probably null	Het
Bmpr1b	A	G	3: 141,856,382	I348T	probably damaging	Het
Btnl1	T	A	17: 34,380,040		probably null	Het
Col27a1	T	A	4: 63,283,953	D960E	probably benign	Het
Crygn	G	T	5: 24,751,092	R172S	probably benign	Het
Cyp26a1	T	C	19: 37,701,206	I450T	probably benign	Het
Emc2	A	G	15: 43,511,806	Y233C	probably benign	Het
Esyt2	C	A	12: 116,363,459	T549K	probably benign	Het
Gatm	T	C	2: 122,595,537	D411G	probably damaging	Het
Gpr65	T	C	12: 98,275,156	Y23H	probably damaging	Het
Itpr1	A	G	6: 108,438,360	R1752G	probably benign	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Mcm9	A	G	10: 53,611,343	*543Q	probably null	Het
Mfsd2a	A	T	4: 122,951,867	C164S	probably benign	Het
Mta1	C	A	12: 113,131,678	R484S	probably damaging	Het
Nlrp9a	T	G	7: 26,557,253	F99V	probably benign	Het
Notch2	G	A	3: 98,124,221	C1137Y	probably damaging	Het
Olfr575	A	T	7: 102,955,241	M120K	probably damaging	Het
Pcnx	A	G	12: 81,918,006	T316A	probably benign	Het
Phf11a	A	G	14: 59,277,569	V221A	probably benign	Het
Pigb	A	G	9: 73,022,320	L327P	possibly damaging	Het
Rab3c	A	T	13: 110,181,020	Y110*	probably null	Het
Sdk2	G	A	11: 113,851,713	T790M	probably damaging	Het
Slc22a2	C	T	17: 12,606,030	P260S	probably damaging	Het
Sppl2a	T	C	2: 126,913,281		probably null	Het
Tmem189	A	C	2: 167,644,959	Y167D	probably benign	Het
Tnn	T	A	1: 160,107,060	Q1261L	probably damaging	Het
Treml4	C	A	17: 48,264,717	Y49*	probably null	Het
Ttc37	A	G	13: 76,113,103	K131R	probably benign	Het
Ubr3	T	C	2: 70,021,179	I1827T	probably damaging	Het
Vrtn	C	T	12: 84,650,035	R520C	probably damaging	Het
Wipf1	G	A	2: 73,437,535	P173L	possibly damaging	Het
Wls	C	A	3: 159,873,124	Q108K	probably damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp39	A	T	11: 58,891,402	V178D	probably damaging	Het
Zfp777	C	A	6: 48,044,625	R21L	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
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
RF038:Fam71e1	UTSW	7	44500522	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'- GACTAGACCATGACTGAGCC -3'
(R):5'- TTCCTTCCTCAGACCCAGAG -3'

Sequencing Primer
(F):5'- TAGACCATGACTGAGCCTCCCC -3'
(R):5'- AACATCCCTGGGCTCGAG -3'

Posted On

2020-06-30