Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Elf2'

672464

Institutional Source

Beutler Lab

Gene Symbol

Elf2

Ensembl Gene

ENSMUSG00000037174

Gene Name

E74-like factor 2

Synonyms

2610036A20Rik, A230104O07Rik, NERF-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51252720-51340663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51266767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 113 (D113V)

Ref Sequence

ENSEMBL: ENSMUSP00000126871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062009] [ENSMUST00000091144] [ENSMUST00000108051] [ENSMUST00000108053] [ENSMUST00000156983] [ENSMUST00000163748] [ENSMUST00000183338] [ENSMUST00000183463] [ENSMUST00000184677] [ENSMUST00000194641] [ENSMUST00000195432]

AlphaFold

Q9JHC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062009
AA Change: D113V

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174
AA Change: D113V

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: D53V

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000088678
Gene: ENSMUSG00000037174
AA Change: D53V

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: D53V

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103686
Gene: ENSMUSG00000037174
AA Change: D53V

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

probably benign
Transcript: ENSMUST00000108053
AA Change: D53V

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103688
Gene: ENSMUSG00000037174
AA Change: D53V

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 damaging
Transcript: ENSMUST00000156983
AA Change: D53V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141525
Gene: ENSMUSG00000037174
AA Change: D53V

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	7	48	1.6e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163748
AA Change: D113V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126871
Gene: ENSMUSG00000037174
AA Change: D113V

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: ENSMUST00000183338

SMART Domains

Protein: ENSMUSP00000139358
Gene: ENSMUSG00000037174

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	2	80	3.2e-25	PFAM

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 damaging
Transcript: ENSMUST00000184677
AA Change: D53V

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

SMART Domains

Protein: ENSMUSP00000139199
Gene: ENSMUSG00000037174
AA Change: D53V

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	10	48	1.1e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194641
AA Change: D113V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174
AA Change: D113V

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 damaging
Transcript: ENSMUST00000195432
AA Change: D53V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142300
Gene: ENSMUSG00000037174
AA Change: D53V

Domain	Start	End	E-Value	Type
Pfam:Elf-1_N	7	48	1.3e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	probably benign	Het

Other mutations in Elf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Elf2	APN	3	51308046	critical splice donor site	probably benign	0.00
IGL01577:Elf2	APN	3	51256352	utr 3 prime	probably benign
IGL01829:Elf2	APN	3	51308100	missense	probably damaging	0.98
IGL02974:Elf2	APN	3	51257689	missense	probably damaging	0.98
IGL03244:Elf2	APN	3	51257772	nonsense	probably null
IGL02980:Elf2	UTSW	3	51264958	missense	possibly damaging	0.89
IGL03050:Elf2	UTSW	3	51257617	missense	probably benign	0.05
R0254:Elf2	UTSW	3	51308190	missense	probably damaging	1.00
R0594:Elf2	UTSW	3	51256453	missense	possibly damaging	0.64
R0644:Elf2	UTSW	3	51308131	missense	probably damaging	1.00
R1638:Elf2	UTSW	3	51308109	missense	probably damaging	1.00
R1729:Elf2	UTSW	3	51257572	missense	probably damaging	0.97
R1784:Elf2	UTSW	3	51257572	missense	probably damaging	0.97
R2142:Elf2	UTSW	3	51256440	missense	probably damaging	1.00
R2346:Elf2	UTSW	3	51257444	missense	probably benign
R4366:Elf2	UTSW	3	51308149	nonsense	probably null
R4672:Elf2	UTSW	3	51256434	missense	probably damaging	1.00
R4834:Elf2	UTSW	3	51277221	missense	probably damaging	1.00
R5514:Elf2	UTSW	3	51308134	missense	probably damaging	1.00
R6198:Elf2	UTSW	3	51277249	missense	probably damaging	1.00
R6870:Elf2	UTSW	3	51294165	makesense	probably null
R7129:Elf2	UTSW	3	51261011	missense	probably damaging	0.96
R7328:Elf2	UTSW	3	51266777	missense	probably damaging	0.97
R7718:Elf2	UTSW	3	51265964	utr 3 prime	probably benign
R7751:Elf2	UTSW	3	51257614	missense	probably damaging	0.99
R7873:Elf2	UTSW	3	51256678	missense	probably damaging	1.00
R8053:Elf2	UTSW	3	51308130	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GTAACTCCTTTGCATCAACAGCTTAC -3'
(R):5'- GGCTTATGTAGAATTGTTCACATGG -3'

Sequencing Primer
(F):5'- TGGAACTCTCACTCTGTAGACCAG -3'
(R):5'- TGTAGAATTGTTCACATGGACAATC -3'

Posted On

2021-04-30