Mutagenetix > Incidental Mutations

Incidental Mutation 'R1993:Fam71e2'

223888

Institutional Source

Beutler Lab

Gene Symbol

Fam71e2

Ensembl Gene

ENSMUSG00000092518

Gene Name

family with sequence similarity 71, member E2

Synonyms

MMRRC Submission

040004-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R1993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4753226-4771302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4758018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 565 (V565E)

Ref Sequence

ENSEMBL: ENSMUSP00000133885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063324] [ENSMUST00000163574] [ENSMUST00000174409] [ENSMUST00000182048] [ENSMUST00000182111] [ENSMUST00000183334] [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 damaging
Transcript: ENSMUST00000108580
AA Change: V565E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: V565E

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 damaging
Transcript: ENSMUST00000174409
AA Change: V565E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: V565E

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: ENSMUST00000183334

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,821,322	I292S	possibly damaging	Het
Abcc4	T	C	14: 118,526,282	N1047S	probably benign	Het
Abcc8	G	T	7: 46,117,423		probably null	Het
Akap9	T	A	5: 4,038,520		probably null	Het
Alox5	T	A	6: 116,415,463	I366F	probably damaging	Het
Amn	A	G	12: 111,276,092	N447S	probably damaging	Het
Ankrd22	A	T	19: 34,165,774	M1K	probably null	Het
Asic1	G	T	15: 99,671,884	G29C	probably damaging	Het
Atxn7l1	A	G	12: 33,345,977	N235S	probably benign	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Bod1l	A	G	5: 41,817,336	S2212P	probably damaging	Het
Cacna1e	T	A	1: 154,477,817	Q423L	probably damaging	Het
Calu	T	C	6: 29,366,975	I62T	possibly damaging	Het
Cars2	A	G	8: 11,514,515	V75A	probably benign	Het
Catsperb	T	A	12: 101,602,767	N899K	possibly damaging	Het
Ccdc50	T	A	16: 27,409,339	C86*	probably null	Het
Cdh5	G	T	8: 104,137,815	L469F	probably damaging	Het
Clrn3	A	T	7: 135,514,119	D167E	probably benign	Het
Csmd1	A	T	8: 16,346,684	C411S	probably damaging	Het
Dchs1	A	T	7: 105,762,548	S1454T	probably benign	Het
Ddx20	G	A	3: 105,679,344	Q562*	probably null	Het
Dgkg	T	G	16: 22,600,594	Y52S	probably damaging	Het
Dhx58	T	C	11: 100,703,490		probably null	Het
Dpp6	A	T	5: 27,399,006	I145L	probably benign	Het
Efna2	A	T	10: 80,186,877	Y85F	possibly damaging	Het
Eif3a	C	T	19: 60,781,516	V127I	probably benign	Het
Exph5	A	T	9: 53,373,635	H672L	possibly damaging	Het
Fam131b	T	C	6: 42,320,884	T112A	possibly damaging	Het
Fcgr1	A	T	3: 96,285,868	V271E	probably damaging	Het
Fgfr4	A	G	13: 55,165,902	D508G	probably damaging	Het
Fndc3b	A	G	3: 27,419,400	M1172T	probably benign	Het
Fryl	G	T	5: 73,108,493	T495K	probably damaging	Het
Gm5134	A	T	10: 75,966,393	I93F	probably damaging	Het
Gpbar1	G	A	1: 74,279,444	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Grm7	T	C	6: 111,207,808	Y367H	probably benign	Het
Hils1	T	A	11: 94,968,032	V51E	probably damaging	Het
Hivep1	G	A	13: 42,157,493	A1070T	probably benign	Het
Il33	A	G	19: 29,956,904	D155G	possibly damaging	Het
Kdm6b	T	C	11: 69,406,303	S408G	probably null	Het
Kntc1	G	A	5: 123,759,099		probably null	Het
Kntc1	A	G	5: 123,810,811		probably null	Het
Ltbp2	T	G	12: 84,808,446		probably null	Het
Mapk8ip3	G	T	17: 24,914,588	L83I	probably damaging	Het
Meltf	C	A	16: 31,892,622	Y554*	probably null	Het
Mov10	A	C	3: 104,799,419	F725C	probably damaging	Het
Ms4a6d	A	C	19: 11,590,159	L18R	probably damaging	Het
Naip2	T	C	13: 100,162,007	N507S	probably benign	Het
Nodal	A	G	10: 61,418,334	Q12R	probably benign	Het
Npy6r	T	C	18: 44,276,508	L332P	probably damaging	Het
Nrxn3	A	G	12: 89,260,411	K272R	possibly damaging	Het
Obox2	G	T	7: 15,397,249	K93N	probably benign	Het
Olfr1136	C	T	2: 87,693,433	V150M	probably benign	Het
Olfr1408	C	T	1: 173,130,851	R122H	possibly damaging	Het
Olfr1466	A	G	19: 13,341,814	T19A	possibly damaging	Het
Olfr575	G	T	7: 102,954,746	P285Q	probably damaging	Het
Pcdh12	T	A	18: 38,282,143	D643V	possibly damaging	Het
Pcsk2	A	G	2: 143,687,619	D112G	probably benign	Het
Pms1	A	G	1: 53,195,015	S781P	probably benign	Het
Prtg	A	G	9: 72,844,896	D188G	probably benign	Het
Psg21	A	T	7: 18,654,770	N132K	probably benign	Het
Psip1	A	G	4: 83,482,532	V25A	probably damaging	Het
Psmd13	T	A	7: 140,898,194	I319N	probably damaging	Het
Ptges2	A	G	2: 32,400,092	T173A	probably benign	Het
Ptprm	G	A	17: 66,747,160	R975W	probably damaging	Het
Rdh1	A	G	10: 127,765,345	D254G	probably benign	Het
Rnf138	T	G	18: 21,024,483	N212K	probably damaging	Het
Serpine2	A	G	1: 79,821,442	S32P	probably damaging	Het
Serpini1	G	T	3: 75,614,664	W154L	probably damaging	Het
Sf3a1	C	A	11: 4,179,177	Q713K	possibly damaging	Het
Sgo2b	A	T	8: 63,926,833	H988Q	probably benign	Het
Sin3a	T	C	9: 57,101,199	F468L	probably damaging	Het
Slamf6	A	T	1: 171,934,209	I66F	possibly damaging	Het
Slc22a28	A	T	19: 8,117,124	C178S	possibly damaging	Het
Slc35a1	A	C	4: 34,675,181	V119G	probably damaging	Het
Slc39a12	A	T	2: 14,434,219	H428L	probably damaging	Het
Speer2	A	G	16: 69,858,077	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Spsb2	T	C	6: 124,809,366		probably null	Het
Stam2	A	T	2: 52,703,156	Y341*	probably null	Het
Sv2b	G	A	7: 75,206,341	A67V	probably benign	Het
Svep1	A	G	4: 58,064,170		probably null	Het
Syt15	A	T	14: 34,223,012	Q172L	probably benign	Het
T	G	A	17: 8,441,802	S415N	probably benign	Het
Tep1	A	G	14: 50,824,184	F2625S	possibly damaging	Het
Tex14	T	C	11: 87,536,755	V11A	possibly damaging	Het
Tiam2	A	T	17: 3,415,126	R377*	probably null	Het
Tirap	A	G	9: 35,191,016		probably null	Het
Tm4sf20	T	C	1: 82,760,217	T118A	probably benign	Het
Trank1	A	T	9: 111,378,832	Q1715L	probably benign	Het
Trpm2	C	T	10: 77,947,989	V217M	probably damaging	Het
Ubap1l	G	A	9: 65,371,796	E126K	possibly damaging	Het
Urgcp	G	T	11: 5,716,526	P604Q	probably damaging	Het
Vmn1r63	A	G	7: 5,803,255	V126A	probably benign	Het
Vmn2r90	T	C	17: 17,713,263	C362R	probably damaging	Het
Vmn2r96	A	G	17: 18,583,876	I271V	probably damaging	Het
Vps13a	A	T	19: 16,722,458	I740K	probably benign	Het
Vps13c	A	G	9: 67,975,856	T3562A	probably damaging	Het
Wdr91	T	A	6: 34,892,362	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,365,956	T315S	possibly damaging	Het
Zfp616	A	G	11: 74,084,969	H688R	probably benign	Het
Zfp763	A	T	17: 33,018,439	H577Q	probably damaging	Het
Zfp808	G	A	13: 62,172,907	S650N	probably benign	Het
Zfp977	A	T	7: 42,579,985	M372K	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
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
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'- CTCCTTGGACTTTAGATTGGGC -3'
(R):5'- TTCTACAAGCACCTGCACATTC -3'

Sequencing Primer
(F):5'- GGGCAAGTTCACAGTTGTCTCC -3'
(R):5'- TGCACATTCCCAGAAAGCCATG -3'

Posted On

2014-08-25