Mutagenetix > Incidental Mutation

Incidental Mutation 'R5135:Edrf1'

396131

Institutional Source

Beutler Lab

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

MMRRC Submission

043261-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R5135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133239422-133274710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133252773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 436 (M436K)

Ref Sequence

ENSEMBL: ENSMUSP00000115641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051169] [ENSMUST00000128901]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051169
AA Change: M470K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: M470K

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	529	549	N/A	INTRINSIC
low complexity region	1171	1184	N/A	INTRINSIC
low complexity region	1229	1237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128901
AA Change: M436K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: M436K

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	433	443	N/A	INTRINSIC
low complexity region	495	515	N/A	INTRINSIC
low complexity region	1137	1150	N/A	INTRINSIC
low complexity region	1195	1203	N/A	INTRINSIC

Meta Mutation Damage Score

0.1007

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (82/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	C	1: 183,765,703 (GRCm39)	S119G	probably benign	Het
4930553M12Rik	G	T	4: 88,786,508 (GRCm39)	H37N	unknown	Het
Adam10	T	A	9: 70,673,356 (GRCm39)	C496S	probably damaging	Het
Aldh18a1	A	C	19: 40,543,261 (GRCm39)		probably benign	Het
Alox5	A	G	6: 116,390,747 (GRCm39)	F468S	probably benign	Het
Ankrd50	T	C	3: 38,509,952 (GRCm39)	H805R	probably damaging	Het
Ap2s1	T	A	7: 16,481,248 (GRCm39)	D72E	probably damaging	Het
Apaf1	T	C	10: 90,895,956 (GRCm39)	Y372C	probably damaging	Het
Apob	C	T	12: 8,060,086 (GRCm39)	T2823I	probably damaging	Het
Bhmt	A	G	13: 93,763,831 (GRCm39)	V70A	probably damaging	Het
Bltp3b	T	C	10: 89,625,217 (GRCm39)	I48T	probably damaging	Het
Cdc42bpg	T	A	19: 6,370,648 (GRCm39)	L1247H	probably damaging	Het
Cel	A	G	2: 28,449,435 (GRCm39)	V264A	probably benign	Het
Celsr2	T	C	3: 108,305,975 (GRCm39)	N2043S	probably damaging	Het
Clca4a	A	T	3: 144,660,707 (GRCm39)	W706R	probably damaging	Het
Col22a1	G	T	15: 71,671,186 (GRCm39)	P1058Q	unknown	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dhx30	T	G	9: 109,927,863 (GRCm39)	R55S	probably damaging	Het
Dlgap5	C	T	14: 47,637,122 (GRCm39)	R452H	probably damaging	Het
Dnah12	T	A	14: 26,492,434 (GRCm39)	D1191E	probably damaging	Het
Dock3	A	T	9: 106,810,196 (GRCm39)	I164N	probably damaging	Het
Eif2ak2	T	A	17: 79,173,774 (GRCm39)	Y268F	probably damaging	Het
Evi2a	G	A	11: 79,418,277 (GRCm39)	T111M	possibly damaging	Het
Fzd4	A	G	7: 89,056,709 (GRCm39)	E252G	probably damaging	Het
Gcm2	A	G	13: 41,256,435 (GRCm39)	V438A	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm4846	T	C	1: 166,311,551 (GRCm39)	D436G	probably damaging	Het
Gm5414	T	A	15: 101,536,203 (GRCm39)	I141F	probably damaging	Het
Gm6185	T	A	1: 161,025,801 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,750,897 (GRCm39)	E776G	possibly damaging	Het
H2-Ob	T	A	17: 34,462,490 (GRCm39)	V160E	probably benign	Het
Hormad1	T	C	3: 95,492,531 (GRCm39)		probably benign	Het
Ighv2-1	A	T	12: 113,538,082 (GRCm39)		probably benign	Het
Igkv4-92	A	T	6: 68,732,538 (GRCm39)	C14S	probably benign	Het
Iqsec3	T	C	6: 121,360,878 (GRCm39)	I993M	probably damaging	Het
Kdm5b	T	A	1: 134,516,484 (GRCm39)		probably benign	Het
Kitl	T	C	10: 99,924,084 (GRCm39)		probably null	Het
Klhl26	G	T	8: 70,905,368 (GRCm39)	R100S	probably benign	Het
Kpna4	C	T	3: 69,000,142 (GRCm39)		probably null	Het
Lama5	T	A	2: 179,844,013 (GRCm39)	N383Y	possibly damaging	Het
Large1	T	G	8: 73,544,724 (GRCm39)	I685L	probably benign	Het
Larp4b	A	G	13: 9,220,773 (GRCm39)	E590G	probably damaging	Het
Liph	A	T	16: 21,774,915 (GRCm39)	C425*	probably null	Het
Lrrc31	A	T	3: 30,739,039 (GRCm39)	C327*	probably null	Het
Lrrc36	T	C	8: 106,190,530 (GRCm39)	V733A	probably benign	Het
Mmel1	T	A	4: 154,966,781 (GRCm39)	I83K	probably benign	Het
Myo16	G	T	8: 10,526,114 (GRCm39)	V885L	probably benign	Het
Naip2	A	T	13: 100,315,948 (GRCm39)	N277K	probably damaging	Het
Ncapg2	T	A	12: 116,391,406 (GRCm39)	I485N	possibly damaging	Het
Npc1l1	A	T	11: 6,174,245 (GRCm39)	Y687N	possibly damaging	Het
Obscn	A	T	11: 59,020,479 (GRCm39)	V922E	probably damaging	Het
Oc90	A	G	15: 65,755,679 (GRCm39)	S223P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a80	A	T	2: 89,582,239 (GRCm39)	L311H	possibly damaging	Het
Or4e1	T	C	14: 52,701,311 (GRCm39)	I52V	probably benign	Het
Pakap	G	T	4: 57,855,912 (GRCm39)	A414S	probably benign	Het
Pdlim5	C	T	3: 142,010,126 (GRCm39)	R174H	probably benign	Het
Pex5l	G	T	3: 33,009,980 (GRCm39)	A386E	probably damaging	Het
Plcxd1	T	A	5: 110,249,229 (GRCm39)		probably benign	Het
Pramel12	T	G	4: 143,145,579 (GRCm39)	S349R	probably benign	Het
Prl8a1	A	T	13: 27,763,802 (GRCm39)		probably null	Het
Ryr2	G	T	13: 11,677,016 (GRCm39)	N3278K	probably benign	Het
Sacm1l	A	G	9: 123,406,090 (GRCm39)	M324V	probably benign	Het
Sdad1	T	C	5: 92,451,793 (GRCm39)	T143A	probably benign	Het
Sec11a	A	T	7: 80,572,812 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,424,239 (GRCm39)	V223A	probably damaging	Het
Serpinb6c	A	G	13: 34,064,080 (GRCm39)	V325A	probably damaging	Het
Slc4a2	G	A	5: 24,635,125 (GRCm39)	A177T	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,428 (GRCm39)	N22D	unknown	Het
Stard13	C	T	5: 150,986,232 (GRCm39)	W308*	probably null	Het
Tanc2	C	T	11: 105,748,379 (GRCm39)	L504F	possibly damaging	Het
Tfap2e	G	T	4: 126,614,337 (GRCm39)	N282K	probably damaging	Het
Usp36	G	T	11: 118,155,731 (GRCm39)	T682K	possibly damaging	Het
Zc3h11a	T	C	1: 133,561,527 (GRCm39)	T315A	probably benign	Het
Zfa-ps	T	A	10: 52,419,118 (GRCm39)		noncoding transcript	Het
Zfp1002	A	T	2: 150,097,410 (GRCm39)	Y34*	probably null	Het
Zfp663	A	T	2: 165,195,590 (GRCm39)	C210S	possibly damaging	Het
Zfp747	T	C	7: 126,973,566 (GRCm39)	I201M	probably damaging	Het
Zic4	C	T	9: 91,266,205 (GRCm39)	T276M	probably damaging	Het

Other mutations in Edrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Edrf1	APN	7	133,260,282 (GRCm39)	nonsense	probably null
IGL01637:Edrf1	APN	7	133,252,254 (GRCm39)	missense	probably damaging	1.00
IGL01697:Edrf1	APN	7	133,245,459 (GRCm39)	missense	probably benign	0.02
IGL01893:Edrf1	APN	7	133,258,831 (GRCm39)	missense	probably benign	0.09
IGL02202:Edrf1	APN	7	133,258,699 (GRCm39)	missense	probably benign	0.00
IGL02278:Edrf1	APN	7	133,258,729 (GRCm39)	missense	probably benign	0.00
IGL02382:Edrf1	APN	7	133,252,344 (GRCm39)	splice site	probably benign
IGL02743:Edrf1	APN	7	133,258,220 (GRCm39)	unclassified	probably benign
R0265:Edrf1	UTSW	7	133,258,774 (GRCm39)	missense	probably damaging	1.00
R0282:Edrf1	UTSW	7	133,245,751 (GRCm39)	missense	probably benign	0.21
R1167:Edrf1	UTSW	7	133,245,795 (GRCm39)	missense	probably benign	0.08
R1633:Edrf1	UTSW	7	133,253,869 (GRCm39)	missense	probably damaging	1.00
R2039:Edrf1	UTSW	7	133,255,678 (GRCm39)	nonsense	probably null
R2060:Edrf1	UTSW	7	133,258,858 (GRCm39)	nonsense	probably null
R2920:Edrf1	UTSW	7	133,269,301 (GRCm39)	missense	probably benign	0.00
R4770:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R4887:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R4888:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R5156:Edrf1	UTSW	7	133,261,908 (GRCm39)	missense	probably damaging	1.00
R5290:Edrf1	UTSW	7	133,252,295 (GRCm39)	missense	probably damaging	0.98
R5342:Edrf1	UTSW	7	133,253,639 (GRCm39)	splice site	probably null
R5416:Edrf1	UTSW	7	133,243,131 (GRCm39)	missense	possibly damaging	0.52
R5450:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R5906:Edrf1	UTSW	7	133,265,144 (GRCm39)	missense	probably benign
R6272:Edrf1	UTSW	7	133,239,537 (GRCm39)	start gained	probably benign
R6275:Edrf1	UTSW	7	133,269,311 (GRCm39)	missense	possibly damaging	0.60
R7144:Edrf1	UTSW	7	133,239,578 (GRCm39)	missense	probably benign
R7244:Edrf1	UTSW	7	133,256,079 (GRCm39)	missense	probably benign	0.01
R7716:Edrf1	UTSW	7	133,245,455 (GRCm39)	missense	probably damaging	0.99
R8193:Edrf1	UTSW	7	133,263,606 (GRCm39)	missense	possibly damaging	0.95
R8197:Edrf1	UTSW	7	133,249,088 (GRCm39)	missense	probably benign	0.41
R8553:Edrf1	UTSW	7	133,252,047 (GRCm39)	missense	possibly damaging	0.88
R8710:Edrf1	UTSW	7	133,245,495 (GRCm39)	missense	probably damaging	1.00
R8839:Edrf1	UTSW	7	133,255,644 (GRCm39)	missense	probably benign	0.00
R9035:Edrf1	UTSW	7	133,245,431 (GRCm39)	missense	probably damaging	0.97
R9051:Edrf1	UTSW	7	133,273,207 (GRCm39)	missense	probably benign	0.00
R9121:Edrf1	UTSW	7	133,258,770 (GRCm39)	frame shift	probably null
R9396:Edrf1	UTSW	7	133,261,838 (GRCm39)	missense	possibly damaging	0.79
R9551:Edrf1	UTSW	7	133,240,742 (GRCm39)	missense	probably damaging	1.00
R9552:Edrf1	UTSW	7	133,240,742 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTTGAGCAGAGAACCACAC -3'
(R):5'- AGAAAGGATCTGACCAGGCTC -3'

Sequencing Primer
(F):5'- GAGAACCACACAGGCACTTTATAC -3'
(R):5'- ATCTGACCAGGCTCCACTG -3'

Posted On

2016-06-21