Mutagenetix > Incidental Mutation

Incidental Mutation 'R9796:Alg10b'

734964

Institutional Source

Beutler Lab

Gene Symbol

Alg10b

Ensembl Gene

ENSMUSG00000075470

Gene Name

ALG10 alpha-1,2-glucosyltransferase

Synonyms

LOC380959, nse5, Deaf1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9796 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90108514-90114757 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90108728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 30 (A30S)

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: A30S

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097882
Gene: ENSMUSG00000075470
AA Change: A30S

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

possibly damaging
Transcript: ENSMUST00000231200
AA Change: A30S

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	T	10: 29,101,349 (GRCm39)	T574I	possibly damaging	Het
Aadac	T	G	3: 59,945,882 (GRCm39)	V184G	probably damaging	Het
Adam6b	G	A	12: 113,454,272 (GRCm39)	C363Y	probably damaging	Het
Adamts8	T	A	9: 30,862,569 (GRCm39)	I258N	probably damaging	Het
Adarb2	C	T	13: 8,619,852 (GRCm39)	L113F	probably damaging	Het
Aff4	A	G	11: 53,302,824 (GRCm39)	N1099S	probably damaging	Het
Als2	T	A	1: 59,209,601 (GRCm39)	E1460D	probably benign	Het
Ascc3	C	T	10: 50,608,801 (GRCm39)	R1515*	probably null	Het
Asxl2	C	T	12: 3,546,508 (GRCm39)	P431S	probably benign	Het
AU018091	A	T	7: 3,213,785 (GRCm39)	V153D	probably damaging	Het
Cd177	A	G	7: 24,459,169 (GRCm39)	V80A	probably benign	Het
Cdc16	G	T	8: 13,807,693 (GRCm39)		probably benign	Het
Cdk14	A	G	5: 5,316,012 (GRCm39)	S4P	probably benign	Het
Ctu2	A	T	8: 123,202,989 (GRCm39)	Y8F	probably benign	Het
Dnhd1	T	C	7: 105,342,537 (GRCm39)	F1294L	probably damaging	Het
Epha7	A	G	4: 28,817,457 (GRCm39)	D37G	probably damaging	Het
Fan1	T	A	7: 64,022,278 (GRCm39)	N325I	probably benign	Het
Fbn1	T	A	2: 125,158,941 (GRCm39)	M2275L	probably benign	Het
Fbxo38	T	C	18: 62,674,055 (GRCm39)	K9E	possibly damaging	Het
Gm3696	T	C	14: 18,435,140 (GRCm39)	N48S	possibly damaging	Het
Greb1l	A	G	18: 10,538,233 (GRCm39)	E1082G	possibly damaging	Het
Gtdc1	A	T	2: 44,715,386 (GRCm39)	N52K	probably benign	Het
Hrh2	C	T	13: 54,375,241 (GRCm39)	T359I	probably benign	Het
Ifi44l	A	G	3: 151,468,419 (GRCm39)	V37A		Het
Igfn1	C	A	1: 135,897,611 (GRCm39)	W985L	probably benign	Het
Il22b	A	G	10: 118,130,081 (GRCm39)	S108P	probably benign	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Klk1	T	C	7: 43,877,965 (GRCm39)	W74R	possibly damaging	Het
Lmntd2	A	T	7: 140,793,597 (GRCm39)	N96K	possibly damaging	Het
Lrch4	A	G	5: 137,635,269 (GRCm39)	H253R	probably damaging	Het
Lrrc8d	A	T	5: 105,959,917 (GRCm39)	D109V	probably benign	Het
Magi3	T	C	3: 103,928,291 (GRCm39)	T1004A	probably benign	Het
Mapk10	A	G	5: 103,135,101 (GRCm39)	V287A	possibly damaging	Het
Mtss2	G	A	8: 111,456,753 (GRCm39)		probably null	Het
Mybpc1	T	C	10: 88,406,497 (GRCm39)	I116V	possibly damaging	Het
Mylk4	T	A	13: 32,900,643 (GRCm39)	M296L	probably damaging	Het
Nav3	A	G	10: 109,527,969 (GRCm39)	F2238S	probably damaging	Het
Or11g26	G	T	14: 50,753,229 (GRCm39)	L189F	probably damaging	Het
Pax6	T	C	2: 105,522,541 (GRCm39)	F243L	probably damaging	Het
Pcdhb22	G	A	18: 37,652,404 (GRCm39)	E34K	possibly damaging	Het
Pdzrn4	T	A	15: 92,578,353 (GRCm39)	F359I	possibly damaging	Het
Prkn	A	T	17: 11,456,554 (GRCm39)	D126V	possibly damaging	Het
Rnf168	C	T	16: 32,117,872 (GRCm39)	R478C	probably damaging	Het
Sh3gl2	G	A	4: 85,295,765 (GRCm39)	V156I	possibly damaging	Het
Taf2	A	T	15: 54,910,832 (GRCm39)	M614K	probably damaging	Het
Tbc1d31	G	A	15: 57,833,179 (GRCm39)	V973M	probably damaging	Het
Tmem131l	T	G	3: 83,829,402 (GRCm39)	K1085T	probably damaging	Het
Tpst1	A	G	5: 130,163,300 (GRCm39)	T366A	probably benign	Het
Unc50	A	G	1: 37,471,679 (GRCm39)	T110A	probably benign	Het
Vmn2r60	A	G	7: 41,785,172 (GRCm39)	H128R	probably benign	Het
Vps13a	A	T	19: 16,631,828 (GRCm39)	N2602K	probably benign	Het
Vps13d	A	G	4: 144,854,505 (GRCm39)		probably null	Het
Vps50	A	G	6: 3,562,300 (GRCm39)	E465G	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
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
Z1187:Alg10b	UTSW	15	90,112,397 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATCCATTGCGTTGCGTCCTG -3'
(R):5'- TACAGTCACTAGGCAGCTCC -3'

Sequencing Primer
(F):5'- TGTCCCTCGTCCCGCAG -3'
(R):5'- CCCTTCACGGTTTAAGTCTGGGAG -3'

Posted On

2022-11-14