Mutagenetix > Incidental Mutation

Incidental Mutation 'R1439:Alkbh1'

160870

Institutional Source

Beutler Lab

Gene Symbol

Alkbh1

Ensembl Gene

ENSMUSG00000079036

Gene Name

alkB homolog 1, histone H2A dioxygenase

Synonyms

Nrp, alkB, Alkbh

MMRRC Submission

039494-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R1439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87474847-87490609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87475915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 289 (V289A)

Ref Sequence

ENSEMBL: ENSMUSP00000124565 (fasta)

Gene Model

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

AlphaFold

P0CB42

Predicted Effect

probably benign
Transcript: ENSMUST00000159079

SMART Domains

Protein: ENSMUSP00000124445
Gene: ENSMUSG00000079036

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

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000160687
AA Change: V172A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124892
Gene: ENSMUSG00000079036
AA Change: V172A

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	1	180	3.4e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160919

Predicted Effect

probably benign
Transcript: ENSMUST00000161712

SMART Domains

Protein: ENSMUSP00000124933
Gene: ENSMUSG00000079036

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162247

SMART Domains

Protein: ENSMUSP00000124360
Gene: ENSMUSG00000079036

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162961
AA Change: V289A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036
AA Change: V289A

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: ENSMUST00000176758

Predicted Effect

probably benign
Transcript: ENSMUST00000162986

SMART Domains

Protein: ENSMUSP00000125372
Gene: ENSMUSG00000079036

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

Meta Mutation Damage Score

0.8436

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,770,908 (GRCm39)	N499S	probably damaging	Het
AI661453	C	A	17: 47,777,587 (GRCm39)		probably benign	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Bnc2	C	T	4: 84,194,305 (GRCm39)	E1035K	probably benign	Het
C1s2	T	A	6: 124,607,126 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,492,640 (GRCm39)	I1885T	probably damaging	Het
Col22a1	A	G	15: 71,824,226 (GRCm39)		probably benign	Het
Cpne4	A	T	9: 104,866,831 (GRCm39)	T248S	probably damaging	Het
Cracd	T	C	5: 76,988,757 (GRCm39)	V36A	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Ddx10	T	A	9: 53,151,787 (GRCm39)	K79N	probably damaging	Het
Dennd1a	A	C	2: 37,933,412 (GRCm39)	L131R	probably damaging	Het
Dnah9	T	C	11: 65,764,958 (GRCm39)	Y3862C	probably benign	Het
Eif3e	A	G	15: 43,141,824 (GRCm39)		probably benign	Het
Emsy	T	C	7: 98,250,048 (GRCm39)		probably benign	Het
Ep400	A	T	5: 110,833,344 (GRCm39)	D1959E	unknown	Het
Fpr-rs7	A	G	17: 20,333,869 (GRCm39)	I207T	probably benign	Het
Fubp3	C	A	2: 31,488,563 (GRCm39)	L140I	probably damaging	Het
Gas2l2	T	C	11: 83,318,298 (GRCm39)	D137G	probably damaging	Het
Git1	G	T	11: 77,397,244 (GRCm39)	R699L	possibly damaging	Het
Gnao1	T	A	8: 94,690,065 (GRCm39)	F27L	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Itga6	T	G	2: 71,664,378 (GRCm39)	Y505D	probably damaging	Het
Itgad	A	T	7: 127,782,178 (GRCm39)	T205S	probably benign	Het
Jakmip3	A	T	7: 138,631,375 (GRCm39)	Y574F	probably benign	Het
Laptm5	G	T	4: 130,653,520 (GRCm39)		probably benign	Het
Mlana	A	T	19: 29,684,252 (GRCm39)	R71S	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mus81	G	C	19: 5,535,145 (GRCm39)	R295G	probably benign	Het
Ncapd3	T	A	9: 26,998,862 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,703,396 (GRCm39)	E218G	possibly damaging	Het
Nectin3	A	T	16: 46,268,757 (GRCm39)	Y548*	probably null	Het
Nif3l1	T	C	1: 58,487,102 (GRCm39)	F96S	probably damaging	Het
Ntrk1	A	G	3: 87,696,918 (GRCm39)		probably null	Het
Obsl1	C	A	1: 75,463,428 (GRCm39)	E1755*	probably null	Het
Or4p23	T	C	2: 88,577,178 (GRCm39)	E18G	possibly damaging	Het
Osbpl9	T	C	4: 108,958,353 (GRCm39)	D74G	probably damaging	Het
Osgin1	T	A	8: 120,169,852 (GRCm39)		probably null	Het
Otogl	A	G	10: 107,615,113 (GRCm39)	Y1931H	probably benign	Het
Pmepa1	A	G	2: 173,069,874 (GRCm39)	I227T	probably benign	Het
Pprc1	T	A	19: 46,052,175 (GRCm39)	N564K	possibly damaging	Het
Prkaa1	T	C	15: 5,194,225 (GRCm39)	F92S	probably damaging	Het
Ptprd	A	G	4: 75,984,437 (GRCm39)	F811L	probably damaging	Het
Rad54b	A	G	4: 11,606,152 (GRCm39)	K520R	possibly damaging	Het
Rbfox1	A	G	16: 7,148,297 (GRCm39)	T269A	possibly damaging	Het
Rfwd3	T	C	8: 112,004,920 (GRCm39)	Y554C	probably damaging	Het
Rfx2	A	T	17: 57,094,720 (GRCm39)	V208E	probably damaging	Het
Rgs22	G	T	15: 36,025,939 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,797,032 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,729,389 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,522,523 (GRCm39)		probably benign	Het
Secisbp2	T	C	13: 51,833,759 (GRCm39)		probably benign	Het
Sgsm2	C	A	11: 74,759,964 (GRCm39)	R58L	probably benign	Het
Slc25a36	A	C	9: 96,975,126 (GRCm39)		probably benign	Het
Spink4	A	G	4: 40,929,121 (GRCm39)	T49A	possibly damaging	Het
Steap3	A	T	1: 120,155,550 (GRCm39)	F470I	probably damaging	Het
Stk10	A	G	11: 32,567,919 (GRCm39)	Q907R	probably damaging	Het
Tdrd5	A	G	1: 156,105,057 (GRCm39)	V446A	probably damaging	Het
Tmem117	G	A	15: 94,992,478 (GRCm39)	M379I	probably benign	Het
Trappc12	A	G	12: 28,797,160 (GRCm39)	L124P	possibly damaging	Het
Trim9	G	A	12: 70,297,867 (GRCm39)	H613Y	probably damaging	Het
Trio	A	G	15: 27,898,000 (GRCm39)	W371R	probably damaging	Het
Ulk4	G	C	9: 121,095,324 (GRCm39)	H110D	possibly damaging	Het
Upb1	T	C	10: 75,275,776 (GRCm39)	V387A	probably benign	Het
Utrn	A	T	10: 12,619,793 (GRCm39)	I284N	possibly damaging	Het
Vmn2r111	C	A	17: 22,790,097 (GRCm39)	W303L	probably benign	Het
Vmn2r15	G	T	5: 109,441,953 (GRCm39)	P160Q	probably damaging	Het
Wdtc1	A	G	4: 133,029,118 (GRCm39)	S323P	probably benign	Het
Zfp846	T	A	9: 20,505,393 (GRCm39)	C418S	possibly damaging	Het
Zfyve26	G	T	12: 79,298,937 (GRCm39)	P441Q	probably benign	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
R2056:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
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'- TCGGGTCATGCAGATGGCACAAAC -3'
(R):5'- TTTGGCCTCCACAGAGATGCACAC -3'

Sequencing Primer
(F):5'- TTCTAAAGGAAAGTCCTGGCCTG -3'
(R):5'- gtcacctgccaccactc -3'

Posted On

2014-03-14