Mutagenetix > Incidental Mutation

Incidental Mutation 'R0035:Abo'

19392

Institutional Source

Beutler Lab

Gene Symbol

Abo

Ensembl Gene

ENSMUSG00000015787

Gene Name

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

Synonyms

cis-AB transferase

MMRRC Submission

038329-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0035 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

26732508-26754973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26733385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 273 (K273N)

Ref Sequence

ENSEMBL: ENSMUSP00000109679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102900] [ENSMUST00000114045]

AlphaFold

P38649

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102900
AA Change: K271N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099964
Gene: ENSMUSG00000015787
AA Change: K271N

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	34	332	2.7e-155	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114045
AA Change: K273N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109679
Gene: ENSMUSG00000015787
AA Change: K273N

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	34	334	1.7e-154	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	T	C	7: 81,438,297 (GRCm39)	T20A	probably benign	Het
Aadacl4	A	G	4: 144,344,511 (GRCm39)	T96A	probably damaging	Het
Abcb6	A	G	1: 75,151,651 (GRCm39)	V473A	possibly damaging	Het
Acvr1c	A	G	2: 58,205,791 (GRCm39)		probably benign	Het
Adcy8	A	T	15: 64,571,217 (GRCm39)	V1142D	probably benign	Het
Akna	T	A	4: 63,300,682 (GRCm39)	H591L	probably benign	Het
Aox1	T	C	1: 58,393,581 (GRCm39)	V1247A	probably benign	Het
Ap4b1	T	C	3: 103,727,980 (GRCm39)		probably benign	Het
Armh3	A	T	19: 45,879,679 (GRCm39)	M558K	probably damaging	Het
Atm	A	G	9: 53,424,480 (GRCm39)	V607A	probably benign	Het
Bltp1	T	A	3: 37,041,747 (GRCm39)	Y2708*	probably null	Het
Cass4	C	T	2: 172,258,412 (GRCm39)	P137S	probably damaging	Het
Cfap53	A	G	18: 74,433,278 (GRCm39)	E121G	probably damaging	Het
Chmp6	T	C	11: 119,807,508 (GRCm39)	V31A	probably damaging	Het
Clec4a3	T	A	6: 122,944,508 (GRCm39)	Y185N	probably damaging	Het
Clic5	A	G	17: 44,586,200 (GRCm39)	T230A	probably damaging	Het
Clspn	G	T	4: 126,458,796 (GRCm39)		probably null	Het
Cntn1	T	A	15: 92,129,969 (GRCm39)		probably benign	Het
Col4a3	G	A	1: 82,650,474 (GRCm39)	G577R	unknown	Het
Defa21	T	A	8: 21,515,784 (GRCm39)		probably null	Het
Deup1	T	C	9: 15,511,117 (GRCm39)	R221G	possibly damaging	Het
Dnah8	A	T	17: 30,902,595 (GRCm39)		probably benign	Het
Dnase1l2	A	G	17: 24,660,049 (GRCm39)	V273A	probably damaging	Het
Gm5134	T	A	10: 75,829,698 (GRCm39)	F328Y	probably benign	Het
Golph3	A	T	15: 12,339,776 (GRCm39)	E96D	probably damaging	Het
Hspd1	A	G	1: 55,122,942 (GRCm39)	V151A	probably benign	Het
Htr1f	A	C	16: 64,746,860 (GRCm39)	I144S	probably damaging	Het
Il23r	A	G	6: 67,450,772 (GRCm39)		probably benign	Het
Il25	A	G	14: 55,170,553 (GRCm39)	E42G	probably damaging	Het
Il36b	A	T	2: 24,049,890 (GRCm39)	H167L	probably benign	Het
Klrb1-ps1	C	T	6: 129,106,306 (GRCm39)	A149V	possibly damaging	Het
Kmt2e	T	A	5: 23,690,619 (GRCm39)		probably benign	Het
Ktn1	A	G	14: 47,967,836 (GRCm39)	N1167D	probably benign	Het
Lama4	T	A	10: 38,948,734 (GRCm39)	D832E	probably benign	Het
Map1b	A	G	13: 99,571,846 (GRCm39)	S292P	probably damaging	Het
Map6	C	T	7: 98,966,815 (GRCm39)	T345I	probably damaging	Het
Mark2	A	T	19: 7,262,017 (GRCm39)		probably benign	Het
Me3	C	A	7: 89,500,967 (GRCm39)	H559Q	probably benign	Het
Myo1b	A	G	1: 51,817,541 (GRCm39)	F574L	probably damaging	Het
Nos2	T	C	11: 78,836,553 (GRCm39)	S431P	probably damaging	Het
Nr1h5	T	A	3: 102,856,889 (GRCm39)	K208*	probably null	Het
Nup214	T	C	2: 31,880,379 (GRCm39)		probably null	Het
Obp2b	T	C	2: 25,628,645 (GRCm39)	L133P	probably damaging	Het
Or14a259	T	C	7: 86,013,395 (GRCm39)	D50G	possibly damaging	Het
Or5k1	A	T	16: 58,617,485 (GRCm39)	C241*	probably null	Het
Osbp2	C	T	11: 3,667,997 (GRCm39)		probably benign	Het
Ptafr	C	A	4: 132,306,864 (GRCm39)	L85I	probably benign	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Rad50	A	G	11: 53,545,854 (GRCm39)		probably benign	Het
Rasef	G	T	4: 73,681,091 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Tbc1d1	T	A	5: 64,414,080 (GRCm39)	I18N	probably damaging	Het
Tbc1d17	T	C	7: 44,490,832 (GRCm39)	N587D	probably benign	Het
Trank1	A	T	9: 111,195,844 (GRCm39)	K1289N	probably benign	Het
Tspyl3	A	G	2: 153,066,240 (GRCm39)	S333P	probably damaging	Het
Ush2a	G	A	1: 188,089,085 (GRCm39)	V347I	probably benign	Het
Usp17le	G	T	7: 104,418,269 (GRCm39)	S291*	probably null	Het
Usp24	T	A	4: 106,225,224 (GRCm39)	S619T	probably benign	Het
Vmn2r10	T	C	5: 109,145,467 (GRCm39)		probably benign	Het
Vmn2r78	A	G	7: 86,569,413 (GRCm39)	E102G	probably benign	Het
Vwa3b	G	A	1: 37,204,770 (GRCm39)	V85I	possibly damaging	Het
Wwp1	A	C	4: 19,631,116 (GRCm39)	I639R	probably damaging	Het
Xpo5	A	G	17: 46,551,101 (GRCm39)	T1001A	probably benign	Het
Zc3h12c	A	T	9: 52,055,047 (GRCm39)	M235K	probably benign	Het
Zfp619	G	A	7: 39,186,706 (GRCm39)	G912D	probably damaging	Het

Other mutations in Abo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02165:Abo	APN	2	26,733,441 (GRCm39)	missense	probably damaging	1.00
IGL02171:Abo	APN	2	26,738,969 (GRCm39)	missense	probably benign	0.06
IGL02825:Abo	APN	2	26,733,710 (GRCm39)	missense	possibly damaging	0.88
R0414:Abo	UTSW	2	26,733,428 (GRCm39)	missense	probably damaging	1.00
R1813:Abo	UTSW	2	26,733,609 (GRCm39)	missense	probably damaging	1.00
R1896:Abo	UTSW	2	26,733,609 (GRCm39)	missense	probably damaging	1.00
R2129:Abo	UTSW	2	26,736,586 (GRCm39)	missense	probably benign	0.00
R4022:Abo	UTSW	2	26,733,812 (GRCm39)	missense	probably damaging	1.00
R6059:Abo	UTSW	2	26,733,365 (GRCm39)	missense	possibly damaging	0.95
R7638:Abo	UTSW	2	26,733,855 (GRCm39)	missense	probably damaging	1.00
R9061:Abo	UTSW	2	26,733,395 (GRCm39)	missense	probably benign	0.06
R9408:Abo	UTSW	2	26,738,287 (GRCm39)	missense	probably benign	0.09
R9445:Abo	UTSW	2	26,733,720 (GRCm39)	missense	probably damaging	0.96
Z1176:Abo	UTSW	2	26,738,270 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCACAGCCACATATCTCAGCTTC -3'
(R):5'- CACTTCTCAGAGCGACGCTTTCTAC -3'

Sequencing Primer
(F):5'- CTTCATGATGGAGGGCCAG -3'
(R):5'- AGCGACGCTTTCTACGTGAG -3'

Posted On

2013-04-11