Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Fam71e2'

374480

Institutional Source

Beutler Lab

Gene Symbol

Fam71e2

Ensembl Gene

ENSMUSG00000092518

Gene Name

family with sequence similarity 71, member E2

Synonyms

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4753226-4771302 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 4757469 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063324] [ENSMUST00000163574] [ENSMUST00000174409] [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 null
Transcript: ENSMUST00000108580

SMART Domains

Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518

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 null
Transcript: ENSMUST00000174409

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518

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 null
Transcript: ENSMUST00000174409

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518

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

noncoding transcript
Transcript: ENSMUST00000182272

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

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,423	S466P	possibly damaging	Het
1700061G19Rik	A	G	17: 56,888,655	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368	E41G	probably benign	Het
Akr1d1	G	A	6: 37,564,491	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,167	E731G	probably damaging	Het
Ctsh	A	G	9: 90,054,548	E26G	probably benign	Het
Cul1	G	T	6: 47,517,146	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232	D373E	probably benign	Het
Ddx58	G	T	4: 40,210,000	S644R	probably damaging	Het
Dhcr7	A	G	7: 143,840,500	Q126R	probably benign	Het
Dok2	T	C	14: 70,777,516	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189	I314L	probably benign	Het
Eps8	A	G	6: 137,514,295	F362L	probably damaging	Het
Espn	G	T	4: 152,138,846	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674	S36*	probably null	Het
Fcho1	C	T	8: 71,710,481	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508	Y130*	probably null	Het
Gvin1	A	T	7: 106,163,436	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842	D586G	probably damaging	Het
Klhl25	T	C	7: 75,867,050	I568T	probably benign	Het
Larp6	A	G	9: 60,737,810	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592	N1043S	probably damaging	Het
Muc4	T	A	16: 32,754,625	S1500T	probably benign	Het
Muc4	G	A	16: 32,754,616	G1497R	probably benign	Het
Nbeal2	G	A	9: 110,635,194	T1128I	probably benign	Het
Nrg2	T	A	18: 36,196,547	Y205F	probably damaging	Het
Nubp2	A	G	17: 24,884,456	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,537,378	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,990,514	T91A	probably benign	Het
Ptger4	G	T	15: 5,242,606	N177K	probably benign	Het
Reln	A	G	5: 21,901,751	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504	V39A	probably benign	Het
Sorbs1	T	C	19: 40,337,005	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474	T586A	probably benign	Het
Tbce	T	A	13: 14,019,795	D93V	probably damaging	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Tle4	A	T	19: 14,464,345	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055		probably benign	Het
Tubgcp3	T	C	8: 12,649,722	K377R	probably benign	Het
Ush2a	A	T	1: 188,553,275	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,401,803	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,275,601	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,385,843	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785	E103G	possibly damaging	Het
Zfp870	A	T	17: 32,883,340	C339*	probably null	Het

Other mutations in Fam71e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Fam71e2	APN	7	4,757,527 (GRCm38)	missense	probably damaging	0.99
IGL01622:Fam71e2	APN	7	4,758,723 (GRCm38)	missense	probably benign	0.16
IGL01623:Fam71e2	APN	7	4,758,723 (GRCm38)	missense	probably benign	0.16
IGL01944:Fam71e2	APN	7	4,770,695 (GRCm38)	missense	possibly damaging	0.94
IGL03013:Fam71e2	APN	7	4,758,633 (GRCm38)	missense	probably benign	0.14
IGL03029:Fam71e2	APN	7	4,757,840 (GRCm38)	missense	possibly damaging	0.78
R0153:Fam71e2	UTSW	7	4,770,287 (GRCm38)	missense	probably damaging	0.99
R0523:Fam71e2	UTSW	7	4,759,393 (GRCm38)	missense	possibly damaging	0.74
R0981:Fam71e2	UTSW	7	4,757,589 (GRCm38)	splice site	probably null
R1428:Fam71e2	UTSW	7	4,757,688 (GRCm38)	missense	possibly damaging	0.68
R1736:Fam71e2	UTSW	7	4,758,154 (GRCm38)	missense	probably damaging	1.00
R1929:Fam71e2	UTSW	7	4,758,187 (GRCm38)	missense	probably benign	0.00
R1993:Fam71e2	UTSW	7	4,758,018 (GRCm38)	missense	probably damaging	1.00
R2016:Fam71e2	UTSW	7	4,759,398 (GRCm38)	missense	probably damaging	1.00
R2256:Fam71e2	UTSW	7	4,771,021 (GRCm38)	missense	probably benign	0.01
R2270:Fam71e2	UTSW	7	4,758,187 (GRCm38)	missense	probably benign	0.00
R2271:Fam71e2	UTSW	7	4,758,187 (GRCm38)	missense	probably benign	0.00
R2272:Fam71e2	UTSW	7	4,758,187 (GRCm38)	missense	probably benign	0.00
R4288:Fam71e2	UTSW	7	4,770,723 (GRCm38)	missense	possibly damaging	0.91
R4653:Fam71e2	UTSW	7	4,758,055 (GRCm38)	missense	possibly damaging	0.95
R4812:Fam71e2	UTSW	7	4,759,072 (GRCm38)	missense	probably damaging	1.00
R4860:Fam71e2	UTSW	7	4,757,469 (GRCm38)	critical splice donor site	probably null
R5037:Fam71e2	UTSW	7	4,758,576 (GRCm38)	missense	possibly damaging	0.64
R5044:Fam71e2	UTSW	7	4,758,661 (GRCm38)	missense	probably benign	0.00
R5491:Fam71e2	UTSW	7	4,757,926 (GRCm38)	missense	probably benign	0.05
R5559:Fam71e2	UTSW	7	4,758,450 (GRCm38)	missense	probably damaging	1.00
R5919:Fam71e2	UTSW	7	4,770,386 (GRCm38)	missense	possibly damaging	0.92
R6025:Fam71e2	UTSW	7	4,758,144 (GRCm38)	missense	probably benign	0.01
R6038:Fam71e2	UTSW	7	4,753,595 (GRCm38)	splice site	probably null
R6038:Fam71e2	UTSW	7	4,753,595 (GRCm38)	splice site	probably null
R6164:Fam71e2	UTSW	7	4,770,678 (GRCm38)	missense	probably damaging	0.99
R6371:Fam71e2	UTSW	7	4,759,359 (GRCm38)	missense	probably benign	0.06
R6470:Fam71e2	UTSW	7	4,757,851 (GRCm38)	missense	probably benign	0.16
R6546:Fam71e2	UTSW	7	4,758,465 (GRCm38)	missense	probably benign	0.06
R6603:Fam71e2	UTSW	7	4,758,432 (GRCm38)	missense	possibly damaging	0.95
R7037:Fam71e2	UTSW	7	4,758,585 (GRCm38)	utr 3 prime	probably benign
R7381:Fam71e2	UTSW	7	4,757,682 (GRCm38)	missense
R8743:Fam71e2	UTSW	7	4,757,815 (GRCm38)	missense
R9066:Fam71e2	UTSW	7	4,770,519 (GRCm38)	intron	probably benign
R9072:Fam71e2	UTSW	7	4,759,254 (GRCm38)	missense
R9138:Fam71e2	UTSW	7	4,770,407 (GRCm38)	missense
R9352:Fam71e2	UTSW	7	4,758,606 (GRCm38)	missense
R9373:Fam71e2	UTSW	7	4,757,713 (GRCm38)	missense
R9462:Fam71e2	UTSW	7	4,758,331 (GRCm38)	missense
Z1177:Fam71e2	UTSW	7	4,757,728 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- CTTACTGCAGACTTTTGGGGC -3'
(R):5'- CGACTGAAGCCAGCTACTATC -3'

Sequencing Primer
(F):5'- ACCTAAGATAGGCCCAGT -3'
(R):5'- GACTGAAGCCAGCTACTATCTCTCTG -3'

Posted On

2016-03-16