Mutagenetix > Incidental Mutation

Incidental Mutation 'R5007:Alg9'

390221

Institutional Source

Beutler Lab

Gene Symbol

Alg9

Ensembl Gene

ENSMUSG00000032059

Gene Name

asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)

Synonyms

B430313H07Rik, 8230402H15Rik, Dibd1

MMRRC Submission

042598-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50788224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 183 (M183K)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000159576] [ENSMUST00000162073]

AlphaFold

Q8VDI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034561
AA Change: M183K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: M183K

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	60	482	3.5e-127	PFAM
low complexity region	598	611	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159576
AA Change: M217K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059
AA Change: M217K

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	60	228	1e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162073
AA Change: H159Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
AA Change: H159Q

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	60	167	7.5e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162363

Meta Mutation Damage Score

0.9252

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.6%

Validation Efficiency

99% (89/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,578,767 (GRCm38)	T242R	probably damaging	Het
Abca8b	T	C	11: 109,936,764 (GRCm38)	T1473A	probably damaging	Het
Adam22	T	C	5: 8,167,393 (GRCm38)	Y134C	probably damaging	Het
Ambra1	T	C	2: 91,772,310 (GRCm38)	I213T	possibly damaging	Het
Ankrd55	T	A	13: 112,367,932 (GRCm38)	V376D	probably benign	Het
Ano4	A	C	10: 89,112,945 (GRCm38)	V166G	probably benign	Het
Aox3	T	A	1: 58,163,424 (GRCm38)	C730S	probably benign	Het
Apc	T	A	18: 34,312,963 (GRCm38)	Y953N	probably damaging	Het
Ass1	T	C	2: 31,501,532 (GRCm38)	F273S	possibly damaging	Het
Atg2b	T	C	12: 105,643,876 (GRCm38)		probably null	Het
B3gnt9	A	G	8: 105,254,490 (GRCm38)	Y89H	probably damaging	Het
Cd38	T	G	5: 43,906,164 (GRCm38)	F200V	probably damaging	Het
Cep170	G	T	1: 176,769,814 (GRCm38)	R388S	probably benign	Het
Col22a1	A	T	15: 71,944,422 (GRCm38)	D614E	probably damaging	Het
Crybg3	C	A	16: 59,558,100 (GRCm38)		probably benign	Het
Ctdp1	A	T	18: 80,420,480 (GRCm38)	S114T	probably damaging	Het
Dctd	C	T	8: 48,137,414 (GRCm38)		probably benign	Het
Dmtf1	T	C	5: 9,122,439 (GRCm38)		probably benign	Het
Dnhd1	G	A	7: 105,713,076 (GRCm38)	V3715M	probably damaging	Het
Dok1	A	T	6: 83,032,316 (GRCm38)	L185H	probably damaging	Het
Dpep1	T	C	8: 123,199,378 (GRCm38)	V152A	probably damaging	Het
Eif2ak1	G	T	5: 143,873,880 (GRCm38)	R136L	probably benign	Het
Eml5	A	T	12: 98,830,965 (GRCm38)	S1063T	probably damaging	Het
Fam171b	T	A	2: 83,855,509 (GRCm38)	L179*	probably null	Het
Fam213b	A	G	4: 154,897,074 (GRCm38)		probably null	Het
Flot1	G	T	17: 35,824,375 (GRCm38)		probably benign	Het
Fmn2	A	T	1: 174,744,300 (GRCm38)	H1491L	probably damaging	Het
Frem1	C	T	4: 82,940,812 (GRCm38)		probably benign	Het
Gdf2	A	G	14: 33,944,906 (GRCm38)	D195G	probably benign	Het
Golga4	T	G	9: 118,558,300 (GRCm38)	C1497G	probably benign	Het
Gpaa1	T	A	15: 76,331,668 (GRCm38)	C33*	probably null	Het
Hectd1	A	T	12: 51,802,660 (GRCm38)	C254S	possibly damaging	Het
Hspa1b	C	T	17: 34,958,110 (GRCm38)	A300T	probably benign	Het
Igf2bp2	A	G	16: 22,079,496 (GRCm38)	I233T	probably damaging	Het
Iqce	C	A	5: 140,675,248 (GRCm38)	A491S	possibly damaging	Het
Irak3	A	G	10: 120,146,429 (GRCm38)		probably null	Het
Kcnip1	T	A	11: 33,642,495 (GRCm38)	H124L	probably benign	Het
Klhdc10	G	A	6: 30,450,641 (GRCm38)	R393Q	probably benign	Het
Klhl28	C	T	12: 64,957,227 (GRCm38)	E171K	probably damaging	Het
Map2	T	C	1: 66,413,289 (GRCm38)	V288A	possibly damaging	Het
Mdp1	C	T	14: 55,659,226 (GRCm38)	R126Q	probably damaging	Het
Meltf	A	G	16: 31,887,562 (GRCm38)	D288G	possibly damaging	Het
Mgat4e	T	A	1: 134,541,152 (GRCm38)	I385F	probably benign	Het
Mical3	A	C	6: 121,038,069 (GRCm38)	V211G	probably damaging	Het
Mlh1	A	G	9: 111,271,410 (GRCm38)	*39R	probably null	Het
Mre11a	A	G	9: 14,809,820 (GRCm38)	D345G	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257 (GRCm38)		probably null	Het
Msh2	C	A	17: 87,723,413 (GRCm38)	A906E	probably benign	Het
Nat1	T	G	8: 67,491,425 (GRCm38)	L154R	probably benign	Het
Nlrp4a	A	G	7: 26,462,480 (GRCm38)	D851G	probably damaging	Het
Npas4	A	C	19: 4,989,656 (GRCm38)	V54G	possibly damaging	Het
Olfr702	T	C	7: 106,824,157 (GRCm38)	Y123C	probably damaging	Het
Pcbp4	G	A	9: 106,462,093 (GRCm38)	G100R	probably damaging	Het
Pcdh17	A	G	14: 84,533,297 (GRCm38)	T1072A	probably benign	Het
Pcdh18	T	C	3: 49,754,457 (GRCm38)	N803S	probably benign	Het
Ppat	C	T	5: 76,928,678 (GRCm38)		probably benign	Het
Ppm1l	T	A	3: 69,317,598 (GRCm38)	L11Q	probably damaging	Het
Pram1	T	A	17: 33,645,437 (GRCm38)	V658E	probably damaging	Het
Prr12	C	T	7: 45,049,801 (GRCm38)		probably benign	Het
Ptprq	A	G	10: 107,608,276 (GRCm38)	V1489A	probably benign	Het
Ryr1	T	A	7: 29,069,115 (GRCm38)	I2817F	probably damaging	Het
Sall2	A	G	14: 52,314,493 (GRCm38)	L413P	probably damaging	Het
Slc7a9	T	A	7: 35,454,129 (GRCm38)	M185K	probably benign	Het
Stag2	C	T	X: 42,266,253 (GRCm38)	H1149Y	possibly damaging	Het
Timm10b	T	A	7: 105,641,091 (GRCm38)	Y64N	probably damaging	Het
Tmem30c	T	C	16: 57,266,505 (GRCm38)	T312A	probably benign	Het
Tmem9b	G	T	7: 109,745,343 (GRCm38)	C17*	probably null	Het
Vmn2r68	C	A	7: 85,232,414 (GRCm38)	R486L	probably benign	Het
Xkr9	T	A	1: 13,701,163 (GRCm38)	I301N	probably damaging	Het
Xpo7	T	C	14: 70,688,264 (GRCm38)	Q446R	probably damaging	Het
Ythdf3	T	C	3: 16,205,198 (GRCm38)	V503A	possibly damaging	Het
Zfp280b	T	A	10: 76,039,214 (GRCm38)	V309D	probably damaging	Het
Zfp53	T	A	17: 21,509,510 (GRCm38)	C602S	probably benign	Het
Zfp616	A	T	11: 74,083,817 (GRCm38)	N395I	possibly damaging	Het
Zfp644	T	C	5: 106,636,001 (GRCm38)	I862M	probably benign	Het
Zfp715	T	C	7: 43,299,595 (GRCm38)	T314A	possibly damaging	Het

Other mutations in Alg9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Alg9	APN	9	50,775,377 (GRCm38)	splice site	probably null
IGL02792:Alg9	APN	9	50,842,748 (GRCm38)	missense	possibly damaging	0.90
gum_drop	UTSW	9	50,805,354 (GRCm38)	missense	possibly damaging	0.90
FR4976:Alg9	UTSW	9	50,775,431 (GRCm38)	unclassified	probably benign
R1183:Alg9	UTSW	9	50,789,533 (GRCm38)	missense	possibly damaging	0.82
R1270:Alg9	UTSW	9	50,787,572 (GRCm38)	intron	probably benign
R1575:Alg9	UTSW	9	50,775,502 (GRCm38)	missense	possibly damaging	0.65
R1773:Alg9	UTSW	9	50,779,096 (GRCm38)	missense	probably benign	0.30
R1837:Alg9	UTSW	9	50,806,315 (GRCm38)	missense	probably damaging	1.00
R2011:Alg9	UTSW	9	50,788,200 (GRCm38)	missense	probably damaging	1.00
R4324:Alg9	UTSW	9	50,805,343 (GRCm38)	missense	probably damaging	1.00
R4514:Alg9	UTSW	9	50,805,354 (GRCm38)	missense	possibly damaging	0.90
R4544:Alg9	UTSW	9	50,805,354 (GRCm38)	missense	possibly damaging	0.90
R4546:Alg9	UTSW	9	50,805,354 (GRCm38)	missense	possibly damaging	0.90
R4996:Alg9	UTSW	9	50,808,705 (GRCm38)	missense	probably damaging	1.00
R5053:Alg9	UTSW	9	50,788,172 (GRCm38)	missense	probably damaging	1.00
R5308:Alg9	UTSW	9	50,822,711 (GRCm38)	missense	possibly damaging	0.95
R6803:Alg9	UTSW	9	50,789,560 (GRCm38)	missense	probably benign	0.37
R6994:Alg9	UTSW	9	50,792,122 (GRCm38)	nonsense	probably null
R6998:Alg9	UTSW	9	50,789,621 (GRCm38)	missense	possibly damaging	0.95
R7298:Alg9	UTSW	9	50,779,061 (GRCm38)	missense	probably damaging	0.97
R7480:Alg9	UTSW	9	50,822,628 (GRCm38)	missense	probably benign	0.06
R7561:Alg9	UTSW	9	50,842,774 (GRCm38)	missense	possibly damaging	0.95
R7578:Alg9	UTSW	9	50,789,535 (GRCm38)	missense	probably benign
R7721:Alg9	UTSW	9	50,776,642 (GRCm38)	missense	probably damaging	0.99
R7829:Alg9	UTSW	9	50,788,171 (GRCm38)	missense	probably damaging	1.00
R7847:Alg9	UTSW	9	50,789,605 (GRCm38)	missense	possibly damaging	0.62
R7878:Alg9	UTSW	9	50,842,783 (GRCm38)	missense	probably benign	0.00
R8113:Alg9	UTSW	9	50,808,780 (GRCm38)	nonsense	probably null
R8257:Alg9	UTSW	9	50,779,087 (GRCm38)	missense	possibly damaging	0.62
R9214:Alg9	UTSW	9	50,806,245 (GRCm38)	missense	probably damaging	1.00
R9497:Alg9	UTSW	9	50,800,136 (GRCm38)	missense	probably damaging	0.97
R9511:Alg9	UTSW	9	50,806,225 (GRCm38)	missense	probably damaging	1.00
RF003:Alg9	UTSW	9	50,775,427 (GRCm38)	unclassified	probably benign
RF006:Alg9	UTSW	9	50,775,417 (GRCm38)	unclassified	probably benign
RF058:Alg9	UTSW	9	50,775,427 (GRCm38)	unclassified	probably benign
Z1177:Alg9	UTSW	9	50,788,173 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTTATTTTGCACACGGC -3'
(R):5'- ATGTGAGATGCGACTTTCACAG -3'

Sequencing Primer
(F):5'- GCACACGGCTTCCATTTC -3'
(R):5'- GATGTCAATTCTAGCTGCTAATGC -3'

Posted On

2016-06-06