Mutagenetix > Incidental Mutation

Incidental Mutation 'R2056:Alkbh1'

228209

Institutional Source

Beutler Lab

Gene Symbol

Alkbh1

Ensembl Gene

ENSMUSG00000079036

Gene Name

alkB homolog 1, histone H2A dioxygenase

Synonyms

Nrp, alkB, Alkbh

MMRRC Submission

040061-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R2056 (G1)

Quality Score

211

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adh1	A	G	3: 137,992,676 (GRCm39)	D264G	probably damaging	Het
Ahnak2	T	A	12: 112,748,626 (GRCm39)	D407V	probably benign	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Ankmy1	T	C	1: 92,809,553 (GRCm39)	I662V	possibly damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apc	A	G	18: 34,449,481 (GRCm39)	R2092G	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Brap	G	A	5: 121,801,529 (GRCm39)	G95S	probably damaging	Het
Cbfa2t2	G	A	2: 154,377,077 (GRCm39)	A587T	probably damaging	Het
Ccdc180	A	G	4: 45,932,477 (GRCm39)	I1308V	probably benign	Het
Ccser1	T	A	6: 61,399,936 (GRCm39)		probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Cntln	G	A	4: 84,967,911 (GRCm39)	R710K	probably benign	Het
Csn1s1	A	T	5: 87,819,387 (GRCm39)	T15S	possibly damaging	Het
Cul9	T	C	17: 46,854,298 (GRCm39)	T135A	probably benign	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dhx38	G	T	8: 110,289,352 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,336,251 (GRCm39)	I85N	possibly damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dscaml1	A	G	9: 45,661,430 (GRCm39)	D1776G	probably damaging	Het
Erbin	A	G	13: 103,966,824 (GRCm39)	S1209P	probably benign	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fbxo45	G	T	16: 32,057,346 (GRCm39)	Q183K	possibly damaging	Het
Frmd4b	C	T	6: 97,389,448 (GRCm39)		probably null	Het
Fzd7	A	G	1: 59,523,361 (GRCm39)	S415G	probably benign	Het
Gpd2	T	A	2: 57,229,025 (GRCm39)		probably null	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gstcd	T	C	3: 132,787,814 (GRCm39)	I295V	probably benign	Het
Gucy1a1	A	G	3: 82,016,592 (GRCm39)	L132P	possibly damaging	Het
Il12b	A	C	11: 44,298,727 (GRCm39)	T61P	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Itih3	A	C	14: 30,631,481 (GRCm39)		probably null	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Kif11	A	G	19: 37,390,660 (GRCm39)	N408D	probably benign	Het
Kng2	TATGACCATGACCATGACCATGACCATGACCATGACCAT	TATGACCATGACCATGACCATGACCATGACCAT	16: 22,806,703 (GRCm39)		probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Krt9	G	T	11: 100,082,321 (GRCm39)	N201K	probably damaging	Het
Lmbr1	G	A	5: 29,438,092 (GRCm39)	P304L	probably benign	Het
Lrrfip1	A	G	1: 91,043,539 (GRCm39)	N648S	probably benign	Het
Mab21l3	C	A	3: 101,722,469 (GRCm39)	V386L	possibly damaging	Het
Mamdc4	T	C	2: 25,454,180 (GRCm39)	Q1149R	probably benign	Het
Mast1	A	G	8: 85,646,995 (GRCm39)	F677L	possibly damaging	Het
Mcoln3	A	G	3: 145,833,979 (GRCm39)	D173G	probably benign	Het
Mmrn1	C	T	6: 60,921,789 (GRCm39)	T82I	probably benign	Het
Mtcl2	C	T	2: 156,864,747 (GRCm39)	G1154S	probably benign	Het
Muc5ac	A	G	7: 141,345,772 (GRCm39)	T203A	probably benign	Het
Myo9b	T	C	8: 71,812,334 (GRCm39)	I2035T	possibly damaging	Het
Ndst3	T	C	3: 123,465,534 (GRCm39)	N146S	probably damaging	Het
Neu4	A	G	1: 93,950,172 (GRCm39)	T21A	possibly damaging	Het
Nos1ap	G	A	1: 170,155,215 (GRCm39)	L267F	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or3a4	A	T	11: 73,944,819 (GRCm39)	Y255*	probably null	Het
Or4p8	A	G	2: 88,727,105 (GRCm39)	F279L	probably damaging	Het
Phc1	T	C	6: 122,310,299 (GRCm39)	N136S	probably damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Psd2	A	G	18: 36,139,744 (GRCm39)	D596G	possibly damaging	Het
Psmc3	T	C	2: 90,888,433 (GRCm39)	F315L	probably benign	Het
Rerg	G	A	6: 137,034,878 (GRCm39)	T42I	probably benign	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Sap30	T	C	8: 57,940,282 (GRCm39)		probably null	Het
Scn2b	T	C	9: 45,036,815 (GRCm39)	Y108H	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb2	T	C	1: 107,451,543 (GRCm39)	V232A	probably damaging	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Slc27a4	T	C	2: 29,700,953 (GRCm39)	W320R	probably damaging	Het
Spmip4	T	C	6: 50,550,725 (GRCm39)	R575G	possibly damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thbs4	T	A	13: 92,927,387 (GRCm39)	D34V	probably benign	Het
Tlcd4	T	G	3: 121,001,070 (GRCm39)	I188L	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmod2	T	C	9: 75,484,524 (GRCm39)	E248G	probably benign	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ttn	T	C	2: 76,615,882 (GRCm39)	D8360G	possibly damaging	Het
Unc80	A	G	1: 66,679,711 (GRCm39)	E2094G	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,160 (GRCm39)	D321E	probably 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
R2058:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
R2059: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'- CATCGCTCGACATTACAGCTC -3'
(R):5'- TGAATCGAAACCCTGGAGTC -3'

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

Posted On

2014-09-17