Mutagenetix > Incidental Mutation

Incidental Mutation 'R2059:Alkbh1'

228502

Institutional Source

Beutler Lab

Gene Symbol

Alkbh1

Ensembl Gene

ENSMUSG00000079036

Gene Name

alkB homolog 1, histone H2A dioxygenase

Synonyms

Nrp, alkB, Alkbh

MMRRC Submission

040064-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R2059 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

87474847-87490609 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 87490520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077462] [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000160488] [ENSMUST00000185301] [ENSMUST00000161712] [ENSMUST00000162986] [ENSMUST00000162247] [ENSMUST00000162961] [ENSMUST00000161023]

AlphaFold

P0CB42

Predicted Effect

probably benign
Transcript: ENSMUST00000077462

SMART Domains

Protein: ENSMUSP00000076673
Gene: ENSMUSG00000021040

Domain	Start	End	E-Value	Type
RRM	18	82	1.08e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091090

SMART Domains

Protein: ENSMUSP00000088619
Gene: ENSMUSG00000021041

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000159079

SMART Domains

Protein: ENSMUSP00000124445
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000160113

SMART Domains

Protein: ENSMUSP00000124691
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160488

SMART Domains

Protein: ENSMUSP00000124174
Gene: ENSMUSG00000021040

Domain	Start	End	E-Value	Type
RRM	20	92	2.41e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160850

Predicted Effect

probably benign
Transcript: ENSMUST00000160880

SMART Domains

Protein: ENSMUSP00000125727
Gene: ENSMUSG00000021040

Domain	Start	End	E-Value	Type
Blast:RRM	15	47	6e-17	BLAST
SCOP:d1u2fa_	17	59	2e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000185301
AA Change: A57T

SMART Domains

Protein: ENSMUSP00000140233
Gene: ENSMUSG00000079036
AA Change: A57T

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000161712

SMART Domains

Protein: ENSMUSP00000124933
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000162986

SMART Domains

Protein: ENSMUSP00000125372
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000162247

SMART Domains

Protein: ENSMUSP00000124360
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000162961

SMART Domains

Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	98	344	6.7e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160919

Predicted Effect

probably benign
Transcript: ENSMUST00000161023

SMART Domains

Protein: ENSMUSP00000125341
Gene: ENSMUSG00000021040

Domain	Start	End	E-Value	Type
RRM	20	92	1.73e-18	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (99/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show delayed fetal growth, impaired placental development and low birth weight. Mice homozygous for another null allele show sex-ratio distortion, reduced survival, spermatogenic defects and incompletely penetrant eye, neural tube, skeleton and craniofacial defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	G	A	5: 30,404,489 (GRCm39)	H316Y	possibly damaging	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ak5	T	A	3: 152,366,274 (GRCm39)	L42F	probably damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Als2cl	T	C	9: 110,714,506 (GRCm39)	V118A	probably benign	Het
Ano1	G	C	7: 144,165,127 (GRCm39)	L641V	probably damaging	Het
Arfgef1	C	T	1: 10,258,977 (GRCm39)		probably null	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atf7ip	T	G	6: 136,586,346 (GRCm39)		probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Baz2a	T	A	10: 127,949,447 (GRCm39)	S347R	probably damaging	Het
C2cd3	T	C	7: 100,104,700 (GRCm39)		probably benign	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Cdh12	T	A	15: 21,583,826 (GRCm39)	N555K	probably benign	Het
Cenpj	G	A	14: 56,801,412 (GRCm39)	P187L	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,778,841 (GRCm39)		probably benign	Het
Cgref1	T	G	5: 31,090,989 (GRCm39)	D275A	possibly damaging	Het
Clgn	A	C	8: 84,126,607 (GRCm39)	N103H	probably benign	Het
Corin	A	G	5: 72,473,394 (GRCm39)	V905A	possibly damaging	Het
Csta1	A	C	16: 35,942,692 (GRCm39)	D72E	probably benign	Het
Cul5	A	T	9: 53,578,456 (GRCm39)	L44Q	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dync1i2	G	A	2: 71,080,197 (GRCm39)		probably null	Het
Enoph1	A	G	5: 100,207,078 (GRCm39)	D55G	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fhip2b	A	G	14: 70,822,489 (GRCm39)	V744A	possibly damaging	Het
Foxi2	G	T	7: 135,012,406 (GRCm39)	G98V	probably damaging	Het
Galr2	T	C	11: 116,173,765 (GRCm39)	S132P	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gm15446	C	T	5: 110,090,362 (GRCm39)	H205Y	probably damaging	Het
Gm21775	T	A	Y: 10,553,910 (GRCm39)	I153N	probably benign	Het
Grip1	A	G	10: 119,874,603 (GRCm39)	K789R	possibly damaging	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Herc2	T	A	7: 55,813,645 (GRCm39)	H2625Q	probably damaging	Het
Hoxc9	A	G	15: 102,892,555 (GRCm39)	D256G	probably benign	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Irf2	A	T	8: 47,260,380 (GRCm39)	N104I	probably damaging	Het
Kat6a	A	G	8: 23,429,321 (GRCm39)	N1559D	possibly damaging	Het
Kcnq4	G	T	4: 120,555,199 (GRCm39)	F661L	probably benign	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Khdrbs1	T	C	4: 129,619,514 (GRCm39)	E209G	probably damaging	Het
Lama3	A	T	18: 12,661,390 (GRCm39)	R2116S	probably damaging	Het
Mir124-2hg	C	A	3: 17,839,877 (GRCm39)	E65*	probably null	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msl3l2	T	A	10: 55,992,040 (GRCm39)	L255Q	probably damaging	Het
Mx1	T	A	16: 97,255,379 (GRCm39)	K225*	probably null	Het
Nf1	T	C	11: 79,447,549 (GRCm39)	V435A	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Nop2	T	A	6: 125,116,823 (GRCm39)	M359K	probably null	Het
Nox1	T	C	X: 132,995,993 (GRCm39)		probably benign	Het
Ogdhl	G	A	14: 32,054,841 (GRCm39)	R263K	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or2y16	T	A	11: 49,335,278 (GRCm39)	V200E	probably damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prl3a1	A	G	13: 27,454,127 (GRCm39)	D35G	probably benign	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptprk	T	A	10: 28,442,599 (GRCm39)	I893N	probably damaging	Het
Ptprz1	T	C	6: 22,986,322 (GRCm39)		probably benign	Het
Rab3c	A	G	13: 110,397,050 (GRCm39)	V72A	probably damaging	Het
Rbms2	A	G	10: 127,973,387 (GRCm39)	S251P	probably benign	Het
Rfwd3	A	G	8: 112,024,127 (GRCm39)	V65A	probably benign	Het
Rps6kl1	T	A	12: 85,186,397 (GRCm39)	Y211F	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Scg3	T	C	9: 75,572,998 (GRCm39)	D311G	probably damaging	Het
Sdk2	C	A	11: 113,745,158 (GRCm39)	M712I	probably damaging	Het
Serinc2	T	G	4: 130,154,578 (GRCm39)	Y158S	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Shroom3	A	T	5: 92,831,643 (GRCm39)	T40S	probably damaging	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc7a3	A	G	X: 100,124,373 (GRCm39)	V464A	probably benign	Het
Snd1	T	C	6: 28,745,206 (GRCm39)	F517S	probably damaging	Het
Spata13	A	C	14: 60,997,040 (GRCm39)	I1165L	possibly damaging	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Stat5b	A	T	11: 100,678,158 (GRCm39)	S652T	probably benign	Het
Stom	A	G	2: 35,206,037 (GRCm39)	S231P	probably damaging	Het
Sult1b1	A	G	5: 87,682,892 (GRCm39)	Y18H	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmem87a	A	T	2: 120,199,773 (GRCm39)	I457N	probably damaging	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,113,746 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Ust	A	G	10: 8,083,330 (GRCm39)	Y349H	probably damaging	Het
V1rd19	A	T	7: 23,703,259 (GRCm39)	M242L	probably benign	Het
Vmn1r33	T	A	6: 66,589,186 (GRCm39)	M123L	probably benign	Het
Vps13c	A	T	9: 67,768,115 (GRCm39)	K111N	probably damaging	Het
Vwa3a	A	G	7: 120,358,172 (GRCm39)	D81G	probably damaging	Het
Zfp318	G	A	17: 46,707,950 (GRCm39)	R336Q	probably damaging	Het
Zfp609	A	G	9: 65,611,716 (GRCm39)	S416P	possibly damaging	Het

Other mutations in Alkbh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Alkbh1	APN	12	87,490,467 (GRCm39)	missense	probably damaging	1.00
IGL03111:Alkbh1	APN	12	87,480,907 (GRCm39)	missense	probably damaging	1.00
IGL03264:Alkbh1	APN	12	87,478,197 (GRCm39)	missense	probably damaging	1.00
R1439:Alkbh1	UTSW	12	87,475,915 (GRCm39)	missense	probably damaging	1.00
R2056:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
R2058:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
R4565:Alkbh1	UTSW	12	87,478,236 (GRCm39)	missense	probably damaging	1.00
R5712:Alkbh1	UTSW	12	87,475,883 (GRCm39)	missense	probably benign	0.05
R6291:Alkbh1	UTSW	12	87,475,864 (GRCm39)	missense	possibly damaging	0.67
R7593:Alkbh1	UTSW	12	87,487,095 (GRCm39)	nonsense	probably null
R7776:Alkbh1	UTSW	12	87,478,215 (GRCm39)	missense	probably damaging	1.00
R8542:Alkbh1	UTSW	12	87,478,275 (GRCm39)	missense	probably damaging	1.00
R8723:Alkbh1	UTSW	12	87,485,278 (GRCm39)	missense	probably benign	0.10
R9363:Alkbh1	UTSW	12	87,487,080 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCGCTCGACATTACAGCTC -3'
(R):5'- TGAATCGAAACCCTGGAGTC -3'

Sequencing Primer
(F):5'- GGGCTTCCCTCCAAAGC -3'
(R):5'- ATCGAAACCCTGGAGTCGTGAC -3'

Posted On

2014-09-17