Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Fam71e2'

161392

Institutional Source

Beutler Lab

Gene Symbol

Fam71e2

Ensembl Gene

ENSMUSG00000092518

Gene Name

family with sequence similarity 71, member E2

Synonyms

MMRRC Submission

039484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4753226-4771302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4757688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 675 (H675L)

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

possibly damaging
Transcript: ENSMUST00000108580
AA Change: H675L

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: H675L

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: H675L

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: H675L

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411	I249M	possibly damaging	Het
2410089E03Rik	T	A	15: 8,219,369	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394		probably benign	Het
Ccdc127	C	T	13: 74,356,915	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284		probably null	Het
Crybg1	T	C	10: 43,975,078	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159		probably benign	Het
Epg5	T	C	18: 77,962,427	S711P	probably damaging	Het
Espl1	A	T	15: 102,305,685	Q649L	probably benign	Het
Eya1	G	A	1: 14,304,414		probably benign	Het
Fam214a	A	T	9: 75,006,321	T79S	probably benign	Het
Fat2	T	A	11: 55,296,087	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761	K347I	probably benign	Het
Helz	T	A	11: 107,592,840		probably benign	Het
Hivep3	C	T	4: 120,096,575	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834		probably benign	Het
Kif13a	A	G	13: 46,791,511		probably benign	Het
Kpna3	C	T	14: 61,383,220		probably benign	Het
Mmp15	C	G	8: 95,369,562	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263	T1003S	probably benign	Het
Mtss1	T	C	15: 58,947,390	D393G	probably benign	Het
Olfm4	T	A	14: 80,021,403	Y331N	probably damaging	Het
Olfr1255	G	C	2: 89,816,381	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,705,963	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,380,425		probably null	Het
Pknox1	T	C	17: 31,592,092		probably benign	Het
Plb1	A	G	5: 32,264,912	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707		probably benign	Het
Sstr4	A	G	2: 148,396,359	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123	E93K	probably benign	Het
Uck1	A	C	2: 32,258,355	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,498,305		probably benign	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
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
R5491:Fam71e2	UTSW	7	4757926	missense	probably benign	0.05
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'- TCGTCCAAACCTAAGATAGGCCCAG -3'
(R):5'- TTTGCCACTACCAAGAAGCAGTCC -3'

Sequencing Primer
(F):5'- GAAAGTACCTGGCAAGTCCTCTG -3'
(R):5'- AGTTAGAAGACTGTGCCCAC -3'

Posted On

2014-03-14