Mutagenetix > Incidental Mutation

Incidental Mutation 'R6870:Elf2'

548879

Institutional Source

Beutler Lab

Gene Symbol

Elf2

Ensembl Gene

ENSMUSG00000037174

Gene Name

E74-like factor 2

Synonyms

2610036A20Rik, NERF-2, A230104O07Rik

MMRRC Submission

044967-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R6870 (G1)

Quality Score

210.009

Status

Validated

Chromosome

Chromosomal Location

51160141-51248084 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 51201586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 88 (*88R)

Ref Sequence

ENSEMBL: ENSMUSP00000139360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062009] [ENSMUST00000163748] [ENSMUST00000183338] [ENSMUST00000183463] [ENSMUST00000194641]

AlphaFold

Q9JHC9

Predicted Effect

probably benign
Transcript: ENSMUST00000062009

SMART Domains

Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174

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: ENSMUST00000163748

SMART Domains

Protein: ENSMUSP00000126871
Gene: ENSMUSG00000037174

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 null
Transcript: ENSMUST00000183463
AA Change: *88R

SMART Domains

Protein: ENSMUSP00000139360
Gene: ENSMUSG00000037174
AA Change: *88R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194641

SMART Domains

Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

72% (39/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,020,608 (GRCm39)	Y62C	probably benign	Het
A1bg	T	C	15: 60,791,564 (GRCm39)	T291A	probably damaging	Het
Abcb11	A	G	2: 69,115,642 (GRCm39)	I574T	possibly damaging	Het
Abcb5	T	A	12: 118,929,000 (GRCm39)	Y17F	possibly damaging	Het
Arfgef3	A	T	10: 18,522,478 (GRCm39)	L516*	probably null	Het
Arhgap21	A	G	2: 20,885,321 (GRCm39)	S619P	probably damaging	Het
Atp2c1	A	G	9: 105,347,261 (GRCm39)	V65A	probably benign	Het
Calm3	T	A	7: 16,653,568 (GRCm39)	Q9L	probably benign	Het
Cd300c2	C	T	11: 114,891,503 (GRCm39)	D124N	probably damaging	Het
Celsr3	A	G	9: 108,706,390 (GRCm39)	T958A	probably benign	Het
Cemip2	T	C	19: 21,809,487 (GRCm39)	S956P	possibly damaging	Het
Cfap69	T	C	5: 5,671,958 (GRCm39)	T317A	probably benign	Het
Cluh	T	A	11: 74,556,210 (GRCm39)	I887K	probably damaging	Het
Dag1	A	T	9: 108,086,457 (GRCm39)	V228E	probably damaging	Het
Dhtkd1	T	C	2: 5,924,248 (GRCm39)		probably null	Het
Dnah1	T	A	14: 30,993,018 (GRCm39)	K2959*	probably null	Het
Dnttip2	T	A	3: 122,069,457 (GRCm39)	V224E	probably damaging	Het
Drosha	C	T	15: 12,907,479 (GRCm39)	P1071L	probably benign	Het
E030025P04Rik	T	A	11: 109,030,993 (GRCm39)	H84L	unknown	Het
Elac2	A	T	11: 64,890,589 (GRCm39)	S698C	probably null	Het
Fastkd1	T	A	2: 69,538,958 (GRCm39)	I143L	probably benign	Het
Fbxw10	C	T	11: 62,746,193 (GRCm39)	R366C	probably damaging	Het
Frg2f1	T	C	4: 119,388,329 (GRCm39)	M57V	probably benign	Het
Gbp4	T	C	5: 105,273,444 (GRCm39)	S129G	probably damaging	Het
Gnat2	A	C	3: 108,002,947 (GRCm39)		probably benign	Het
Golgb1	C	A	16: 36,738,565 (GRCm39)	F2301L	probably damaging	Het
Il18bp	T	C	7: 101,666,518 (GRCm39)	T2A	possibly damaging	Het
Kpna2	T	C	11: 106,883,520 (GRCm39)		probably null	Het
Lrrfip2	A	T	9: 111,045,187 (GRCm39)		probably benign	Het
Map4k1	T	G	7: 28,701,096 (GRCm39)		probably null	Het
Mcm3ap	T	C	10: 76,306,049 (GRCm39)	V54A	probably benign	Het
Nup133	A	G	8: 124,626,246 (GRCm39)	I1112T	probably benign	Het
Or8b1	A	C	9: 38,399,382 (GRCm39)	D19A	probably benign	Het
Pcdhac1	T	A	18: 37,225,140 (GRCm39)	V651D	probably damaging	Het
Pde10a	A	G	17: 9,186,356 (GRCm39)	T571A	possibly damaging	Het
Phc3	A	G	3: 30,990,910 (GRCm39)	S403P	probably damaging	Het
Prl7b1	T	C	13: 27,788,516 (GRCm39)	E113G	probably damaging	Het
Psmd2	T	G	16: 20,480,593 (GRCm39)	M744R	probably benign	Het
Qrich2	T	C	11: 116,346,156 (GRCm39)	D1556G	probably damaging	Het
Septin1	C	T	7: 126,816,876 (GRCm39)	V46M	probably benign	Het
Shank2	C	A	7: 143,606,197 (GRCm39)	Q127K	probably damaging	Het
Siah1a	A	G	8: 87,451,653 (GRCm39)	V277A	possibly damaging	Het
Slc4a7	T	A	14: 14,733,846 (GRCm38)	D85E	probably damaging	Het
Slc5a12	A	T	2: 110,472,155 (GRCm39)	I526F	probably damaging	Het
Svil	T	C	18: 5,063,231 (GRCm39)	V834A	possibly damaging	Het
Sycp1	T	A	3: 102,842,919 (GRCm39)	S17C	probably damaging	Het
Tssk6	G	A	8: 70,355,673 (GRCm39)	R239Q	probably benign	Het
Txnrd1	A	G	10: 82,709,042 (GRCm39)	D80G	probably benign	Het
Tyk2	A	G	9: 21,036,250 (GRCm39)	F79S	probably damaging	Het
Tyrp1	T	C	4: 80,769,014 (GRCm39)	S503P	probably benign	Het
Upf1	A	T	8: 70,794,211 (GRCm39)	C232S	probably benign	Het
Zeb2	G	A	2: 44,878,922 (GRCm39)	T1080I	probably damaging	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
R4672:Elf2	UTSW	3	51,163,855 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGAGCAGACTGTCACGCAC -3'
(R):5'- CTGCACATGAAAGGCTTGTTTG -3'

Sequencing Primer
(F):5'- CAGACAGTGAGAGCCCATG -3'
(R):5'- CTCCCTGCTGTGAATGAGAATG -3'

Posted On

2019-05-15