Mutagenetix > Incidental Mutations

Incidental Mutation 'R5491:Fam71e2'

432082

Institutional Source

Beutler Lab

Gene Symbol

Fam71e2

Ensembl Gene

ENSMUSG00000092518

Gene Name

family with sequence similarity 71, member E2

Synonyms

MMRRC Submission

043052-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4753226-4771302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4757926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 596 (I596V)

Ref Sequence

ENSEMBL: ENSMUSP00000133885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063324] [ENSMUST00000163574] [ENSMUST00000174409] [ENSMUST00000182048] [ENSMUST00000182111] [ENSMUST00000182173] [ENSMUST00000182738] [ENSMUST00000183334] [ENSMUST00000183971] [ENSMUST00000184143]

AlphaFold

L7N480

Predicted Effect

probably benign
Transcript: ENSMUST00000063324

SMART Domains

Protein: ENSMUSP00000064988
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	85	2.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108580
AA Change: I596V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: I596V

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC
Pfam:DUF3699	99	172	6.5e-23	PFAM
low complexity region	282	296	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163574

SMART Domains

Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174409
AA Change: I596V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: I596V

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
Pfam:DUF3699	93	168	5.8e-24	PFAM
low complexity region	277	291	N/A	INTRINSIC
low complexity region	679	692	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182048

SMART Domains

Protein: ENSMUSP00000138765
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	85	2.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182111

SMART Domains

Protein: ENSMUSP00000138709
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	85	2.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182173

SMART Domains

Protein: ENSMUSP00000138288
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	74	5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182738

SMART Domains

Protein: ENSMUSP00000138744
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	74	5.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183334

Predicted Effect

probably benign
Transcript: ENSMUST00000183971

SMART Domains

Protein: ENSMUSP00000138911
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	75	1.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184143

SMART Domains

Protein: ENSMUSP00000139239
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	60	2.1e-11	PFAM

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 95.0%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	C	A	15: 84,406,510	V199L	probably benign	Het
A1cf	G	T	19: 31,918,062	A182S	possibly damaging	Het
Aldh1l2	A	T	10: 83,522,785	D2E	probably benign	Het
Bach2	G	T	4: 32,562,681	D383Y	probably damaging	Het
Cd248	T	C	19: 5,070,209	L695P	probably damaging	Het
Cela1	T	A	15: 100,682,980	N132Y	probably damaging	Het
Cisd2	A	T	3: 135,408,840	D123E	probably damaging	Het
Col6a6	T	A	9: 105,738,236	D1571V	probably damaging	Het
Fbxo48	C	T	11: 16,954,280	T144M	probably damaging	Het
Fbxo7	C	A	10: 86,048,026	P497Q	probably damaging	Het
Gm12695	T	A	4: 96,769,668	H88L	possibly damaging	Het
Gm8994	C	G	6: 136,329,557	R339G	probably damaging	Het
Gpat4	A	G	8: 23,180,664	I133T	probably benign	Het
Hmcn1	C	T	1: 150,609,825		probably null	Het
Ncaph	T	C	2: 127,123,675	T252A	probably benign	Het
Nebl	G	T	2: 17,434,972	Y163*	probably null	Het
Neurod4	C	T	10: 130,271,067	V113I	possibly damaging	Het
Olfr1305	T	A	2: 111,873,562	I98F	probably benign	Het
Olfr411	A	T	11: 74,346,914	H103Q	probably benign	Het
Olfr71	A	G	4: 43,705,990	S193P	probably damaging	Het
Pbxip1	T	A	3: 89,443,159	M37K	probably benign	Het
Phactr2	T	C	10: 13,261,846	N184S	possibly damaging	Het
Phf20l1	C	T	15: 66,615,785	P480L	possibly damaging	Het
Psme4	T	C	11: 30,815,246	S538P	possibly damaging	Het
Rassf1	T	A	9: 107,561,415	M228K	possibly damaging	Het
Rpn2	A	G	2: 157,297,383	D231G	probably damaging	Het
She	A	T	3: 89,831,790	D96V	probably damaging	Het
Tmem260	T	A	14: 48,512,170		probably null	Het
Ttn	T	A	2: 76,732,358	I28751F	probably damaging	Het
Zfp60	T	G	7: 27,748,515		probably null	Het

Other mutations in Fam71e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Fam71e2	APN	7	4757527	missense	probably damaging	0.99
IGL01622:Fam71e2	APN	7	4758723	missense	probably benign	0.16
IGL01623:Fam71e2	APN	7	4758723	missense	probably benign	0.16
IGL01944:Fam71e2	APN	7	4770695	missense	possibly damaging	0.94
IGL03013:Fam71e2	APN	7	4758633	missense	probably benign	0.14
IGL03029:Fam71e2	APN	7	4757840	missense	possibly damaging	0.78
R0153:Fam71e2	UTSW	7	4770287	missense	probably damaging	0.99
R0523:Fam71e2	UTSW	7	4759393	missense	possibly damaging	0.74
R0981:Fam71e2	UTSW	7	4757589	splice site	probably null
R1428:Fam71e2	UTSW	7	4757688	missense	possibly damaging	0.68
R1736:Fam71e2	UTSW	7	4758154	missense	probably damaging	1.00
R1929:Fam71e2	UTSW	7	4758187	missense	probably benign	0.00
R1993:Fam71e2	UTSW	7	4758018	missense	probably damaging	1.00
R2016:Fam71e2	UTSW	7	4759398	missense	probably damaging	1.00
R2256:Fam71e2	UTSW	7	4771021	missense	probably benign	0.01
R2270:Fam71e2	UTSW	7	4758187	missense	probably benign	0.00
R2271:Fam71e2	UTSW	7	4758187	missense	probably benign	0.00
R2272:Fam71e2	UTSW	7	4758187	missense	probably benign	0.00
R4288:Fam71e2	UTSW	7	4770723	missense	possibly damaging	0.91
R4653:Fam71e2	UTSW	7	4758055	missense	possibly damaging	0.95
R4812:Fam71e2	UTSW	7	4759072	missense	probably damaging	1.00
R4860:Fam71e2	UTSW	7	4757469	critical splice donor site	probably null
R4860:Fam71e2	UTSW	7	4757469	critical splice donor site	probably null
R5037:Fam71e2	UTSW	7	4758576	missense	possibly damaging	0.64
R5044:Fam71e2	UTSW	7	4758661	missense	probably benign	0.00
R5559:Fam71e2	UTSW	7	4758450	missense	probably damaging	1.00
R5919:Fam71e2	UTSW	7	4770386	missense	possibly damaging	0.92
R6025:Fam71e2	UTSW	7	4758144	missense	probably benign	0.01
R6038:Fam71e2	UTSW	7	4753595	splice site	probably null
R6038:Fam71e2	UTSW	7	4753595	splice site	probably null
R6164:Fam71e2	UTSW	7	4770678	missense	probably damaging	0.99
R6371:Fam71e2	UTSW	7	4759359	missense	probably benign	0.06
R6470:Fam71e2	UTSW	7	4757851	missense	probably benign	0.16
R6546:Fam71e2	UTSW	7	4758465	missense	probably benign	0.06
R6603:Fam71e2	UTSW	7	4758432	missense	possibly damaging	0.95
R7037:Fam71e2	UTSW	7	4758585	utr 3 prime	probably benign
R7381:Fam71e2	UTSW	7	4757682	missense
R8743:Fam71e2	UTSW	7	4757815	missense
R9066:Fam71e2	UTSW	7	4770519	intron	probably benign
R9072:Fam71e2	UTSW	7	4759254	missense
R9138:Fam71e2	UTSW	7	4770407	missense
R9352:Fam71e2	UTSW	7	4758606	missense
R9373:Fam71e2	UTSW	7	4757713	missense
R9462:Fam71e2	UTSW	7	4758331	missense
Z1177:Fam71e2	UTSW	7	4757728	missense

Predicted Primers

PCR Primer
(F):5'- TCTGTGTAGGGGTTCTCAACAG -3'
(R):5'- GGTCTCAGAAGGATCCAACTG -3'

Sequencing Primer
(F):5'- GTAGGGGTTCTCAACAGCTATCTC -3'
(R):5'- GAAAGCTCTCAACTCCCGGG -3'

Posted On

2016-10-05