Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Alg10b'

88292

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 #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

90108514-90114757 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90111900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 248 (L248Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097882 (fasta)

Gene Model

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

AlphaFold

Q3UGP8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100309
AA Change: L248Q

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097882
Gene: ENSMUSG00000075470
AA Change: L248Q

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

probably benign
Transcript: ENSMUST00000231200

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	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
IGL02512:Alg10b	APN	15	90,111,752 (GRCm39)	missense	probably benign
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

2013-11-18