Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Alg9'

602636

Institutional Source

Beutler Lab

Gene Symbol

Alg9

Ensembl Gene

ENSMUSG00000032059

Gene Name

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

Synonyms

B430313H07Rik, 8230402H15Rik, Dibd1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF003 (G1)

Quality Score

180.982

Status

Not validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GGC to GGCCGC at 50775427 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000042391] [ENSMUST00000159576] [ENSMUST00000162073] [ENSMUST00000176145] [ENSMUST00000176335] [ENSMUST00000177384]

AlphaFold

Q8VDI9

Predicted Effect

probably benign
Transcript: ENSMUST00000034561

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059

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 benign
Transcript: ENSMUST00000042391

SMART Domains

Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845

Domain	Start	End	E-Value	Type
Pfam:DUF2431	7	176	1.4e-44	PFAM
low complexity region	258	269	N/A	INTRINSIC
SCOP:d1jjca_	487	516	6e-4	SMART
FDX-ACB	528	622	5.88e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159576

SMART Domains

Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162073

SMART Domains

Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176145

SMART Domains

Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845

Domain	Start	End	E-Value	Type
Pfam:DUF2431	7	115	4.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176335

SMART Domains

Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
SCOP:d1jjca_	285	314	3e-4	SMART
FDX-ACB	326	420	5.88e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177384

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055 (GRCm38)		probably benign	Het
A630073D07Rik	A	C	6: 132,627,443 (GRCm38)	L13R	unknown	Het
Arc	G	C	15: 74,672,131 (GRCm38)	T81S	probably benign	Het
Atad5	A	T	11: 80,111,560 (GRCm38)	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,060,449 (GRCm38)	V1143F	probably benign	Het
Bdp1	C	A	13: 100,060,450 (GRCm38)	Q1142H	probably benign	Het
Ccdc33	T	C	9: 58,058,291 (GRCm38)	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cep192	A	T	18: 67,837,956 (GRCm38)	R1009S	probably benign	Het
Clvs2	T	A	10: 33,622,925 (GRCm38)	H3L	probably damaging	Het
Cnot6	T	C	11: 49,702,613 (GRCm38)	M14V	probably benign	Het
Colec10	A	G	15: 54,462,391 (GRCm38)	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,629,534 (GRCm38)	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,678,134 (GRCm38)	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131 (GRCm38)		probably null	Het
Efhb	T	C	17: 53,400,891 (GRCm38)	D748G	probably damaging	Het
Etl4	C	T	2: 20,519,918 (GRCm38)	Q21*	probably null	Het
Fam172a	A	T	13: 77,834,675 (GRCm38)	I135L	possibly damaging	Het
Fam71e1	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,500,527 (GRCm38)		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,762,166 (GRCm38)		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,525,786 (GRCm38)		probably benign	Het
Fsip2	T	A	2: 82,991,521 (GRCm38)	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,006 (GRCm38)		probably null	Het
Gnl2	T	A	4: 125,043,725 (GRCm38)		probably null	Het
Grip2	C	T	6: 91,783,593 (GRCm38)	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,624,561 (GRCm38)	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778 (GRCm38)	Y56*	probably null	Het
Il12a	A	T	3: 68,695,229 (GRCm38)	T102S	probably benign	Het
Il1a	T	A	2: 129,302,932 (GRCm38)	I189F	possibly damaging	Het
Inpp4b	T	A	8: 81,969,521 (GRCm38)	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,570,607 (GRCm38)		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378 (GRCm38)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816 (GRCm38)		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGTGCACATTG	6: 145,173,783 (GRCm38)		probably benign	Het
Lrrc8d	T	C	5: 105,812,641 (GRCm38)	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820 (GRCm38)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,306,296 (GRCm38)		probably benign	Het
Map1b	G	T	13: 99,430,750 (GRCm38)	A1821E	unknown	Het
Maz	A	G	7: 127,025,497 (GRCm38)	C284R	probably damaging	Het
Med23	A	G	10: 24,903,785 (GRCm38)	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,294,027 (GRCm38)		probably benign	Het
Mmp14	C	T	14: 54,439,014 (GRCm38)	R339*	probably null	Het
Mroh9	T	G	1: 163,058,061 (GRCm38)	K334T	probably damaging	Het
Nab1	A	T	1: 52,479,282 (GRCm38)	C320S	probably damaging	Het
Noto	T	C	6: 85,424,210 (GRCm38)	S74P	probably benign	Het
Nudt4	T	C	10: 95,549,374 (GRCm38)	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,119,176 (GRCm38)		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,627,603 (GRCm38)		probably benign	Het
Olfr118	A	C	17: 37,672,858 (GRCm38)	K278N	probably damaging	Het
Olfr330	CA	C	11: 58,529,157 (GRCm38)		probably null	Het
Olfr461	T	C	6: 40,544,362 (GRCm38)	I206V	probably benign	Het
Olfr585	GTTAT	GTTATTAT	7: 103,098,305 (GRCm38)			Het
Olfr585	TTA	TTAGTA	7: 103,098,306 (GRCm38)		probably null	Het
Olfr710	T	A	7: 106,944,648 (GRCm38)	M118L	probably damaging	Het
Olfr828	T	C	9: 18,815,482 (GRCm38)	T271A	probably benign	Het
Plxnc1	T	C	10: 94,794,444 (GRCm38)	Y1531C	probably damaging	Het
Pnmal2	TGA	TGAAGA	7: 16,946,016 (GRCm38)		probably benign	Het
Rp1	A	G	1: 4,344,694 (GRCm38)	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 23,945,369 (GRCm38)		probably benign	Het
Sepsecs	G	A	5: 52,647,191 (GRCm38)	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,569,764 (GRCm38)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,370 (GRCm38)		probably benign	Het
Tfeb	C	T	17: 47,788,078 (GRCm38)	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,616,352 (GRCm38)		probably null	Het
Tmem94	G	A	11: 115,796,132 (GRCm38)	V1108M	probably damaging	Het
Usp35	T	C	7: 97,322,096 (GRCm38)	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,582,824 (GRCm38)	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471 (GRCm38)		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483 (GRCm38)		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,036,476 (GRCm38)		probably benign	Het
Zfp407	A	T	18: 84,209,563 (GRCm38)	S1974T	probably benign	Het
Zfp677	T	C	17: 21,397,442 (GRCm38)	S254P	probably 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
R5007:Alg9	UTSW	9	50,788,224 (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
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'- TCGCCTCAATTGGTCCATTG -3'
(R):5'- AGACCCTGGCTGCAAAGATG -3'

Sequencing Primer
(F):5'- CAATTGGTCCATTGGCACAG -3'
(R):5'- CGATGATCGACGCCAAGTG -3'

Posted On

2019-12-04