Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02512:Alg10b'

296602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alg10b

Ensembl Gene

ENSMUSG00000075470

Gene Name

ALG10 alpha-1,2-glucosyltransferase

Synonyms

LOC380959, nse5, Deaf1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02512

Quality Score

Status

Chromosome

Chromosomal Location

90108514-90114757 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 90111752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 199 (H199N)

Ref Sequence

ENSEMBL: ENSMUSP00000097882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100309] [ENSMUST00000231200]

AlphaFold

Q3UGP8

Predicted Effect

probably benign
Transcript: ENSMUST00000100309
AA Change: H199N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097882
Gene: ENSMUSG00000075470
AA Change: H199N

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DIE2_ALG10	31	428	2.4e-133	PFAM
transmembrane domain	435	457	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183650

Predicted Effect

unknown
Transcript: ENSMUST00000231200
AA Change: T149K

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for an ENU induced allele exhibit deafness associated with cochlear outer hair cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13a	T	A	5: 114,924,827 (GRCm39)	M104K	probably benign	Het
Ankrd37	A	G	8: 46,452,325 (GRCm39)	L48P	probably damaging	Het
Ankzf1	T	A	1: 75,169,222 (GRCm39)	L43M	probably damaging	Het
Ano10	A	C	9: 122,101,540 (GRCm39)	V77G	possibly damaging	Het
Arg2	G	A	12: 79,194,517 (GRCm39)	V114I	probably benign	Het
Asah1	A	C	8: 41,813,344 (GRCm39)		probably benign	Het
Clpx	A	C	9: 65,217,533 (GRCm39)	I34L	probably benign	Het
Cnga2	G	A	X: 71,052,531 (GRCm39)	V469I	probably damaging	Het
Dock9	A	T	14: 121,856,950 (GRCm39)		probably benign	Het
Eaf1	A	G	14: 31,219,743 (GRCm39)	T61A	possibly damaging	Het
Exoc3l	T	A	8: 106,017,115 (GRCm39)	D624V	probably damaging	Het
Fancd2	A	G	6: 113,547,904 (GRCm39)	D927G	probably damaging	Het
Fbn1	A	T	2: 125,180,380 (GRCm39)	Y1801N	probably damaging	Het
Garnl3	A	G	2: 32,921,150 (GRCm39)	Y292H	probably damaging	Het
Gpr174	A	T	X: 106,336,577 (GRCm39)	K130*	probably null	Het
Greb1	C	T	12: 16,742,713 (GRCm39)	V1379I	possibly damaging	Het
Grik2	A	T	10: 49,232,008 (GRCm39)	D507E	probably benign	Het
Gsn	A	T	2: 35,173,962 (GRCm39)	K24*	probably null	Het
Ift80	A	G	3: 68,835,058 (GRCm39)		probably null	Het
Inpp5j	T	A	11: 3,449,661 (GRCm39)	Y707F	probably damaging	Het
Ints13	A	T	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kcnh1	T	C	1: 192,187,689 (GRCm39)	F717L	possibly damaging	Het
Klhdc8a	T	C	1: 132,230,895 (GRCm39)		probably null	Het
Klkb1	G	A	8: 45,729,277 (GRCm39)		probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Msh6	T	C	17: 88,292,160 (GRCm39)	V305A	probably benign	Het
Myo6	T	A	9: 80,199,801 (GRCm39)		probably null	Het
Nampt	T	A	12: 32,880,268 (GRCm39)	Y54N	possibly damaging	Het
Neurog2	G	T	3: 127,427,504 (GRCm39)	E43*	probably null	Het
Obscn	C	T	11: 58,919,343 (GRCm39)	R6887H	probably damaging	Het
Or10ag58	A	G	2: 87,265,402 (GRCm39)	I190M	possibly damaging	Het
Or5ac25	T	C	16: 59,182,171 (GRCm39)	N137D	possibly damaging	Het
Or6c203	A	G	10: 129,010,119 (GRCm39)	I257T	possibly damaging	Het
Pdss1	A	G	2: 22,802,658 (GRCm39)	I166V	probably damaging	Het
Phaf1	G	A	8: 105,961,110 (GRCm39)		probably benign	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Reln	A	G	5: 22,245,425 (GRCm39)	Y728H	probably benign	Het
Sec31a	T	C	5: 100,555,052 (GRCm39)	D56G	probably damaging	Het
Shroom1	T	A	11: 53,357,386 (GRCm39)	V683E	probably damaging	Het
Slc5a11	A	G	7: 122,864,478 (GRCm39)	D358G	probably damaging	Het
Slfn3	T	A	11: 83,103,851 (GRCm39)	S241T	possibly damaging	Het
Slitrk3	G	A	3: 72,957,735 (GRCm39)	P346S	probably benign	Het
Specc1	T	A	11: 62,009,215 (GRCm39)	S324T	probably damaging	Het
Sptlc3	T	C	2: 139,389,123 (GRCm39)	Y168H	probably damaging	Het
St3gal6	C	T	16: 58,293,822 (GRCm39)	E236K	probably benign	Het
Tet2	A	T	3: 133,175,069 (GRCm39)	M1426K	probably benign	Het
Tinag	A	T	9: 76,939,069 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,993,415 (GRCm39)	S53P	probably damaging	Het
Uimc1	T	C	13: 55,188,431 (GRCm39)	T543A	possibly damaging	Het
Wdfy4	A	G	14: 32,764,448 (GRCm39)	W2147R	probably benign	Het
Zmym1	C	T	4: 126,942,465 (GRCm39)	C641Y	probably damaging	Het

Other mutations in Alg10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Alg10b	APN	15	90,112,592 (GRCm39)	utr 3 prime	probably benign
IGL01472:Alg10b	APN	15	90,111,900 (GRCm39)	missense	possibly damaging	0.91
IGL03402:Alg10b	APN	15	90,112,532 (GRCm39)	nonsense	probably null
R1148:Alg10b	UTSW	15	90,112,068 (GRCm39)	missense	possibly damaging	0.67
R1148:Alg10b	UTSW	15	90,112,068 (GRCm39)	missense	possibly damaging	0.67
R1384:Alg10b	UTSW	15	90,111,785 (GRCm39)	missense	possibly damaging	0.49
R1611:Alg10b	UTSW	15	90,109,984 (GRCm39)	missense	probably damaging	1.00
R2113:Alg10b	UTSW	15	90,109,860 (GRCm39)	missense	probably damaging	1.00
R3013:Alg10b	UTSW	15	90,111,759 (GRCm39)	missense	possibly damaging	0.81
R3078:Alg10b	UTSW	15	90,112,139 (GRCm39)	missense	probably benign	0.42
R4629:Alg10b	UTSW	15	90,111,948 (GRCm39)	missense	probably benign	0.00
R4633:Alg10b	UTSW	15	90,112,497 (GRCm39)	missense	probably benign
R7096:Alg10b	UTSW	15	90,111,564 (GRCm39)	missense	probably benign	0.11
R7350:Alg10b	UTSW	15	90,111,653 (GRCm39)	missense	probably benign	0.02
R8862:Alg10b	UTSW	15	90,109,893 (GRCm39)	missense	probably damaging	1.00
R9004:Alg10b	UTSW	15	90,109,894 (GRCm39)	missense	probably damaging	1.00
R9146:Alg10b	UTSW	15	90,112,401 (GRCm39)	missense	probably damaging	1.00
R9777:Alg10b	UTSW	15	90,111,656 (GRCm39)	missense	probably benign	0.02
R9796:Alg10b	UTSW	15	90,108,728 (GRCm39)	missense	possibly damaging	0.68
Z1187:Alg10b	UTSW	15	90,112,397 (GRCm39)	missense	possibly damaging	0.81

Posted On

2015-04-16