Mutagenetix > Incidental Mutation

Incidental Mutation 'R4672:Elf2'

348503

Institutional Source

Beutler Lab

Gene Symbol

Elf2

Ensembl Gene

ENSMUSG00000037174

Gene Name

E74-like factor 2

Synonyms

2610036A20Rik, NERF-2, A230104O07Rik

MMRRC Submission

041927-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R4672 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51160141-51248084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51163855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 558 (V558A)

Ref Sequence

ENSEMBL: ENSMUSP00000061076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023849] [ENSMUST00000062009] [ENSMUST00000091144] [ENSMUST00000108051] [ENSMUST00000108053] [ENSMUST00000144826] [ENSMUST00000163748] [ENSMUST00000194641] [ENSMUST00000183463] [ENSMUST00000167780]

AlphaFold

Q9JHC9

Predicted Effect

probably benign
Transcript: ENSMUST00000023849

SMART Domains

Protein: ENSMUSP00000023849
Gene: ENSMUSG00000023087

Domain	Start	End	E-Value	Type
low complexity region	48	58	N/A	INTRINSIC
Pfam:Exo_endo_phos	144	412	3.6e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000062009
AA Change: V558A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174
AA Change: V558A

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	2	108	2.2e-37	PFAM
low complexity region	130	142	N/A	INTRINSIC
low complexity region	160	169	N/A	INTRINSIC
ETS	195	282	1.28e-51	SMART
low complexity region	357	379	N/A	INTRINSIC
low complexity region	411	421	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091144
AA Change: V481A

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088678
Gene: ENSMUSG00000037174
AA Change: V481A

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	3	108	8.6e-38	PFAM
low complexity region	142	154	N/A	INTRINSIC
low complexity region	172	181	N/A	INTRINSIC
ETS	207	294	1.28e-51	SMART
low complexity region	369	391	N/A	INTRINSIC
low complexity region	423	433	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108051
AA Change: V498A

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103686
Gene: ENSMUSG00000037174
AA Change: V498A

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	11	48	4.9e-11	PFAM
low complexity region	70	82	N/A	INTRINSIC
low complexity region	100	109	N/A	INTRINSIC
ETS	135	222	1.28e-51	SMART
low complexity region	297	319	N/A	INTRINSIC
low complexity region	351	361	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108053
AA Change: V510A

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103688
Gene: ENSMUSG00000037174
AA Change: V510A

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	11	48	5e-11	PFAM
low complexity region	82	94	N/A	INTRINSIC
low complexity region	112	121	N/A	INTRINSIC
ETS	147	234	1.28e-51	SMART
low complexity region	309	331	N/A	INTRINSIC
low complexity region	363	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144826

SMART Domains

Protein: ENSMUSP00000141416
Gene: ENSMUSG00000023087

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	80	348	6.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163748
AA Change: V570A

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126871
Gene: ENSMUSG00000037174
AA Change: V570A

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	2	108	1.2e-37	PFAM
low complexity region	142	154	N/A	INTRINSIC
low complexity region	172	181	N/A	INTRINSIC
ETS	207	294	1.28e-51	SMART
low complexity region	369	391	N/A	INTRINSIC
low complexity region	423	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194641
AA Change: V570A

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174
AA Change: V570A

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	2	108	1.2e-37	PFAM
low complexity region	142	154	N/A	INTRINSIC
low complexity region	172	181	N/A	INTRINSIC
ETS	207	294	1.28e-51	SMART
low complexity region	369	391	N/A	INTRINSIC
low complexity region	423	433	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193909

Predicted Effect

probably benign
Transcript: ENSMUST00000183463

SMART Domains

Protein: ENSMUSP00000139360
Gene: ENSMUSG00000037174

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	2	85	2.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167780

SMART Domains

Protein: ENSMUSP00000130347
Gene: ENSMUSG00000023087

Domain	Start	End	E-Value	Type
low complexity region	48	58	N/A	INTRINSIC
Pfam:Exo_endo_phos	144	412	5.7e-29	PFAM

Meta Mutation Damage Score

0.1377

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (113/115)

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,962,702 (GRCm39)	L483F	possibly damaging	Het
Abca8b	A	G	11: 109,827,274 (GRCm39)	F1507L	possibly damaging	Het
Adamdec1	C	A	14: 68,815,353 (GRCm39)	E104*	probably null	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alppl2	T	C	1: 87,017,187 (GRCm39)		probably benign	Het
Aplnr	A	G	2: 84,967,524 (GRCm39)	Y183C	probably damaging	Het
Atm	G	A	9: 53,433,501 (GRCm39)	R250W	probably damaging	Het
B4galt7	T	C	13: 55,757,132 (GRCm39)	L275P	probably damaging	Het
Bltp1	A	G	3: 36,944,139 (GRCm39)	*330W	probably null	Het
Ccdc178	G	A	18: 22,283,501 (GRCm39)	Q10*	probably null	Het
Ccr9	T	C	9: 123,608,752 (GRCm39)	Y145H	probably damaging	Het
Cd209f	C	T	8: 4,153,685 (GRCm39)	G188D	probably damaging	Het
Cep70	T	A	9: 99,136,365 (GRCm39)	S23T	possibly damaging	Het
Cpped1	C	A	16: 11,623,238 (GRCm39)	E294*	probably null	Het
Crisp1	T	A	17: 40,605,404 (GRCm39)		probably null	Het
Disp1	T	C	1: 182,880,215 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,935,743 (GRCm39)	M624L	probably damaging	Het
Eno2	T	C	6: 124,743,109 (GRCm39)	D209G	probably damaging	Het
Fam187b	G	A	7: 30,676,968 (GRCm39)	R159H	probably damaging	Het
Fh1	G	A	1: 175,431,617 (GRCm39)	A423V	probably benign	Het
Frg1	C	T	8: 41,853,846 (GRCm39)	D164N	probably benign	Het
Fsbp	T	G	4: 11,579,841 (GRCm39)	N36K	probably benign	Het
Gcn1	A	G	5: 115,744,579 (GRCm39)	T1592A	probably damaging	Het
Gimap3	A	G	6: 48,742,687 (GRCm39)	I81T	probably damaging	Het
Gjb6	C	T	14: 57,362,235 (GRCm39)	V9I	probably benign	Het
Gkap1	T	C	13: 58,411,770 (GRCm39)	S68G	possibly damaging	Het
Gpatch8	A	T	11: 102,369,784 (GRCm39)	S1251R	probably damaging	Het
Gria4	A	G	9: 4,664,981 (GRCm39)	F92L	possibly damaging	Het
H2-Q1	C	A	17: 35,539,906 (GRCm39)	D58E	probably damaging	Het
Hs1bp3	G	T	12: 8,391,983 (GRCm39)	G362*	probably null	Het
Igfn1	T	A	1: 135,893,107 (GRCm39)	H2114L	possibly damaging	Het
Igkv12-98	A	G	6: 68,547,940 (GRCm39)	Q22R	probably benign	Het
Ing3	A	G	6: 21,965,729 (GRCm39)		probably null	Het
Insr	C	T	8: 3,217,501 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,941,630 (GRCm39)	S374P	probably benign	Het
Kif14	A	C	1: 136,449,016 (GRCm39)	Q1472P	probably benign	Het
Kif14	G	T	1: 136,449,017 (GRCm39)	Q1472H	probably benign	Het
Knstrn	A	G	2: 118,664,512 (GRCm39)	E202G	probably damaging	Het
Knstrn	G	T	2: 118,664,513 (GRCm39)	E202D	possibly damaging	Het
Krt12	A	G	11: 99,309,509 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,771,897 (GRCm39)	I195F	possibly damaging	Het
Lima1	T	C	15: 99,741,590 (GRCm39)	N29D	probably damaging	Het
Liph	T	C	16: 21,802,806 (GRCm39)	I88V	probably benign	Het
Lrrk1	A	G	7: 65,929,120 (GRCm39)	S86P	probably benign	Het
Lsamp	A	G	16: 41,775,697 (GRCm39)	R166G	probably damaging	Het
Mamdc2	T	A	19: 23,328,148 (GRCm39)	N407Y	probably damaging	Het
Mast3	CATA	CA	8: 71,237,441 (GRCm39)		probably null	Het
Megf6	T	A	4: 154,333,909 (GRCm39)	N212K	probably damaging	Het
Met	A	C	6: 17,571,803 (GRCm39)	D1374A	probably benign	Het
Mrc2	A	G	11: 105,233,923 (GRCm39)	T902A	probably benign	Het
Mroh3	T	A	1: 136,118,713 (GRCm39)	T535S	probably benign	Het
Muc1	G	T	3: 89,139,384 (GRCm39)	V595L	probably damaging	Het
Myh2	T	A	11: 67,079,303 (GRCm39)	L957Q	probably damaging	Het
Myorg	T	A	4: 41,499,061 (GRCm39)	M190L	probably benign	Het
Ncl	A	T	1: 86,284,324 (GRCm39)	D257E	probably benign	Het
Nipbl	T	A	15: 8,332,468 (GRCm39)	D2263V	probably damaging	Het
Optc	C	A	1: 133,825,555 (GRCm39)	V324L	possibly damaging	Het
Or4k15	A	G	14: 50,364,714 (GRCm39)	N227D	probably benign	Het
Or4k42	A	T	2: 111,319,902 (GRCm39)	N200K	possibly damaging	Het
Or7g35	A	G	9: 19,496,726 (GRCm39)	K298E	possibly damaging	Het
Osbpl9	A	G	4: 108,921,806 (GRCm39)	I604T	possibly damaging	Het
Otog	C	A	7: 45,939,210 (GRCm39)	A2080D	probably damaging	Het
Parp6	G	C	9: 59,547,393 (GRCm39)	R460P	probably damaging	Het
Phactr4	G	T	4: 132,098,017 (GRCm39)	P417Q	probably damaging	Het
Pigt	T	C	2: 164,339,498 (GRCm39)		probably benign	Het
Plekha5	A	G	6: 140,470,655 (GRCm39)	I99V	probably damaging	Het
Plxna3	T	G	X: 73,382,554 (GRCm39)		probably null	Het
Ppp2r1b	G	A	9: 50,779,019 (GRCm39)	M362I	probably damaging	Het
Pramel34	T	A	5: 93,784,182 (GRCm39)	R230S	probably damaging	Het
Rad51	A	G	2: 118,954,327 (GRCm39)	I136V	probably benign	Het
Rad54b	T	A	4: 11,609,449 (GRCm39)	H633Q	probably benign	Het
Rasal2	A	G	1: 157,071,231 (GRCm39)	F41S	probably benign	Het
Reep3	T	A	10: 66,857,629 (GRCm39)	H154L	probably benign	Het
Rp1l1	T	G	14: 64,268,719 (GRCm39)	V1435G	probably damaging	Het
Rps6ka5	C	A	12: 100,620,546 (GRCm39)	K125N	possibly damaging	Het
Rsad1	A	T	11: 94,434,444 (GRCm39)	M330K	probably damaging	Het
Scand1	A	G	2: 156,153,850 (GRCm39)		probably null	Het
Setd6	A	G	8: 96,444,640 (GRCm39)	H111R	probably null	Het
Slc27a3	T	C	3: 90,294,953 (GRCm39)	N368S	possibly damaging	Het
Slc38a2	T	C	15: 96,596,518 (GRCm39)	T32A	probably benign	Het
Smg7	A	G	1: 152,721,164 (GRCm39)	S683P	probably damaging	Het
Smyd2	A	T	1: 189,642,101 (GRCm39)	L62M	probably damaging	Het
Sox5	T	C	6: 143,779,075 (GRCm39)	Y687C	probably damaging	Het
Spaca6	T	A	17: 18,057,005 (GRCm39)	C53*	probably null	Het
Spata31e4	T	C	13: 50,857,208 (GRCm39)	Y949H	probably benign	Het
Spire2	T	C	8: 124,084,850 (GRCm39)	V230A	probably benign	Het
Sptbn2	G	T	19: 4,782,524 (GRCm39)	V487L	probably benign	Het
Stk3	T	A	15: 35,099,603 (GRCm39)	I110L	probably benign	Het
Stox2	T	A	8: 47,645,141 (GRCm39)	Y773F	probably damaging	Het
Tbrg1	C	A	9: 37,562,632 (GRCm39)	A259S	probably damaging	Het
Tnfsf18	C	A	1: 161,331,307 (GRCm39)	D152E	probably benign	Het
Tpr	G	A	1: 150,299,318 (GRCm39)	A1173T	probably benign	Het
Trrap	T	C	5: 144,722,290 (GRCm39)	L271P	probably damaging	Het
Ttn	G	T	2: 76,657,419 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,198 (GRCm39)	S192P	possibly damaging	Het
Ubr4	C	T	4: 139,138,027 (GRCm39)	S1128L	probably damaging	Het
Ucma	G	A	2: 4,981,465 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,569,522 (GRCm39)	D1401E	probably benign	Het
Usp54	A	T	14: 20,631,597 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,056 (GRCm39)	Y270H	probably damaging	Het
Vmn1r90	T	A	7: 14,295,493 (GRCm39)	T202S	probably benign	Het
Vmn2r88	A	G	14: 51,655,612 (GRCm39)	Y616C	probably damaging	Het
Vmn2r95	T	A	17: 18,672,413 (GRCm39)	W717R	probably damaging	Het
Zcchc4	C	A	5: 52,953,947 (GRCm39)	T209K	probably benign	Het
Zfp955b	T	A	17: 33,524,233 (GRCm39)		probably benign	Het

Other mutations in Elf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Elf2	APN	3	51,215,467 (GRCm39)	critical splice donor site	probably benign	0.00
IGL01577:Elf2	APN	3	51,163,773 (GRCm39)	utr 3 prime	probably benign
IGL01829:Elf2	APN	3	51,215,521 (GRCm39)	missense	probably damaging	0.98
IGL02974:Elf2	APN	3	51,165,110 (GRCm39)	missense	probably damaging	0.98
IGL03244:Elf2	APN	3	51,165,193 (GRCm39)	nonsense	probably null
IGL02980:Elf2	UTSW	3	51,172,379 (GRCm39)	missense	possibly damaging	0.89
IGL03050:Elf2	UTSW	3	51,165,038 (GRCm39)	missense	probably benign	0.05
R0254:Elf2	UTSW	3	51,215,611 (GRCm39)	missense	probably damaging	1.00
R0594:Elf2	UTSW	3	51,163,874 (GRCm39)	missense	possibly damaging	0.64
R0644:Elf2	UTSW	3	51,215,552 (GRCm39)	missense	probably damaging	1.00
R1638:Elf2	UTSW	3	51,215,530 (GRCm39)	missense	probably damaging	1.00
R1729:Elf2	UTSW	3	51,164,993 (GRCm39)	missense	probably damaging	0.97
R1784:Elf2	UTSW	3	51,164,993 (GRCm39)	missense	probably damaging	0.97
R2142:Elf2	UTSW	3	51,163,861 (GRCm39)	missense	probably damaging	1.00
R2346:Elf2	UTSW	3	51,164,865 (GRCm39)	missense	probably benign
R4366:Elf2	UTSW	3	51,215,570 (GRCm39)	nonsense	probably null
R4834:Elf2	UTSW	3	51,184,642 (GRCm39)	missense	probably damaging	1.00
R5514:Elf2	UTSW	3	51,215,555 (GRCm39)	missense	probably damaging	1.00
R6198:Elf2	UTSW	3	51,184,670 (GRCm39)	missense	probably damaging	1.00
R6870:Elf2	UTSW	3	51,201,586 (GRCm39)	makesense	probably null
R7129:Elf2	UTSW	3	51,168,432 (GRCm39)	missense	probably damaging	0.96
R7328:Elf2	UTSW	3	51,174,198 (GRCm39)	missense	probably damaging	0.97
R7718:Elf2	UTSW	3	51,173,385 (GRCm39)	utr 3 prime	probably benign
R7751:Elf2	UTSW	3	51,165,035 (GRCm39)	missense	probably damaging	0.99
R7873:Elf2	UTSW	3	51,164,099 (GRCm39)	missense	probably damaging	1.00
R8053:Elf2	UTSW	3	51,215,551 (GRCm39)	missense	possibly damaging	0.93
R8812:Elf2	UTSW	3	51,174,188 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GGGATAGGTCATTTACTTCCAGTAC -3'
(R):5'- ATGAGACTGTCTGTGCCTGC -3'

Sequencing Primer
(F):5'- AGGTCATTTACTTCCAGTACGTCTG -3'
(R):5'- TGCTCAGCAGGCTTCTGG -3'

Posted On

2015-10-08