Mutagenetix > Incidental Mutation

Incidental Mutation 'R5007:Alg9'

390221

Institutional Source

Beutler Lab

Gene Symbol

Alg9

Ensembl Gene

ENSMUSG00000032059

Gene Name

ALG9 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

50686570-50754939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50699524 bp (GRCm39)

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: 27,278,192 (GRCm39)	T242R	probably damaging	Het
Abca8b	T	C	11: 109,827,590 (GRCm39)	T1473A	probably damaging	Het
Adam22	T	C	5: 8,217,393 (GRCm39)	Y134C	probably damaging	Het
Ambra1	T	C	2: 91,602,655 (GRCm39)	I213T	possibly damaging	Het
Ankrd55	T	A	13: 112,504,466 (GRCm39)	V376D	probably benign	Het
Ano4	A	C	10: 88,948,807 (GRCm39)	V166G	probably benign	Het
Aox3	T	A	1: 58,202,583 (GRCm39)	C730S	probably benign	Het
Apc	T	A	18: 34,446,016 (GRCm39)	Y953N	probably damaging	Het
Ass1	T	C	2: 31,391,544 (GRCm39)	F273S	possibly damaging	Het
Atg2b	T	C	12: 105,610,135 (GRCm39)		probably null	Het
B3gnt9	A	G	8: 105,981,122 (GRCm39)	Y89H	probably damaging	Het
Cd38	T	G	5: 44,063,506 (GRCm39)	F200V	probably damaging	Het
Cep170	G	T	1: 176,597,380 (GRCm39)	R388S	probably benign	Het
Col22a1	A	T	15: 71,816,271 (GRCm39)	D614E	probably damaging	Het
Crybg3	C	A	16: 59,378,463 (GRCm39)		probably benign	Het
Ctdp1	A	T	18: 80,463,695 (GRCm39)	S114T	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dmtf1	T	C	5: 9,172,439 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,362,283 (GRCm39)	V3715M	probably damaging	Het
Dok1	A	T	6: 83,009,297 (GRCm39)	L185H	probably damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Eif2ak1	G	T	5: 143,810,698 (GRCm39)	R136L	probably benign	Het
Eml5	A	T	12: 98,797,224 (GRCm39)	S1063T	probably damaging	Het
Fam171b	T	A	2: 83,685,853 (GRCm39)	L179*	probably null	Het
Flot1	G	T	17: 36,135,267 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,571,866 (GRCm39)	H1491L	probably damaging	Het
Frem1	C	T	4: 82,859,049 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,666,863 (GRCm39)	D195G	probably benign	Het
Golga4	T	G	9: 118,387,368 (GRCm39)	C1497G	probably benign	Het
Gpaa1	T	A	15: 76,215,868 (GRCm39)	C33*	probably null	Het
Hectd1	A	T	12: 51,849,443 (GRCm39)	C254S	possibly damaging	Het
Hspa1b	C	T	17: 35,177,086 (GRCm39)	A300T	probably benign	Het
Igf2bp2	A	G	16: 21,898,246 (GRCm39)	I233T	probably damaging	Het
Iqce	C	A	5: 140,661,003 (GRCm39)	A491S	possibly damaging	Het
Irak3	A	G	10: 119,982,334 (GRCm39)		probably null	Het
Kcnip1	T	A	11: 33,592,495 (GRCm39)	H124L	probably benign	Het
Klhdc10	G	A	6: 30,450,640 (GRCm39)	R393Q	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Map2	T	C	1: 66,452,448 (GRCm39)	V288A	possibly damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Meltf	A	G	16: 31,706,380 (GRCm39)	D288G	possibly damaging	Het
Mgat4e	T	A	1: 134,468,890 (GRCm39)	I385F	probably benign	Het
Mical3	A	C	6: 121,015,030 (GRCm39)	V211G	probably damaging	Het
Mlh1	A	G	9: 111,100,478 (GRCm39)	*39R	probably null	Het
Mre11a	A	G	9: 14,721,116 (GRCm39)	D345G	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Nat1	T	G	8: 67,944,077 (GRCm39)	L154R	probably benign	Het
Nlrp4a	A	G	7: 26,161,905 (GRCm39)	D851G	probably damaging	Het
Npas4	A	C	19: 5,039,684 (GRCm39)	V54G	possibly damaging	Het
Or13n4	T	C	7: 106,423,364 (GRCm39)	Y123C	probably damaging	Het
Pcbp4	G	A	9: 106,339,292 (GRCm39)	G100R	probably damaging	Het
Pcdh17	A	G	14: 84,770,737 (GRCm39)	T1072A	probably benign	Het
Pcdh18	T	C	3: 49,708,906 (GRCm39)	N803S	probably benign	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Ppm1l	T	A	3: 69,224,931 (GRCm39)	L11Q	probably damaging	Het
Pram1	T	A	17: 33,864,411 (GRCm39)	V658E	probably damaging	Het
Prr12	C	T	7: 44,699,225 (GRCm39)		probably benign	Het
Prxl2b	A	G	4: 154,981,531 (GRCm39)		probably null	Het
Ptprq	A	G	10: 107,444,137 (GRCm39)	V1489A	probably benign	Het
Ryr1	T	A	7: 28,768,540 (GRCm39)	I2817F	probably damaging	Het
Sall2	A	G	14: 52,551,950 (GRCm39)	L413P	probably damaging	Het
Slc7a9	T	A	7: 35,153,554 (GRCm39)	M185K	probably benign	Het
Stag2	C	T	X: 41,355,130 (GRCm39)	H1149Y	possibly damaging	Het
Timm10b	T	A	7: 105,290,298 (GRCm39)	Y64N	probably damaging	Het
Tmem30c	T	C	16: 57,086,868 (GRCm39)	T312A	probably benign	Het
Tmem9b	G	T	7: 109,344,550 (GRCm39)	C17*	probably null	Het
Vmn2r68	C	A	7: 84,881,622 (GRCm39)	R486L	probably benign	Het
Xkr9	T	A	1: 13,771,387 (GRCm39)	I301N	probably damaging	Het
Xpo7	T	C	14: 70,925,704 (GRCm39)	Q446R	probably damaging	Het
Ythdf3	T	C	3: 16,259,362 (GRCm39)	V503A	possibly damaging	Het
Zfp280b	T	A	10: 75,875,048 (GRCm39)	V309D	probably damaging	Het
Zfp53	T	A	17: 21,729,772 (GRCm39)	C602S	probably benign	Het
Zfp616	A	T	11: 73,974,643 (GRCm39)	N395I	possibly damaging	Het
Zfp644	T	C	5: 106,783,867 (GRCm39)	I862M	probably benign	Het
Zfp715	T	C	7: 42,949,019 (GRCm39)	T314A	possibly damaging	Het

Other mutations in Alg9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Alg9	APN	9	50,686,677 (GRCm39)	splice site	probably null
IGL02792:Alg9	APN	9	50,754,048 (GRCm39)	missense	possibly damaging	0.90
gum_drop	UTSW	9	50,716,654 (GRCm39)	missense	possibly damaging	0.90
FR4976:Alg9	UTSW	9	50,686,731 (GRCm39)	unclassified	probably benign
R1183:Alg9	UTSW	9	50,700,833 (GRCm39)	missense	possibly damaging	0.82
R1270:Alg9	UTSW	9	50,698,872 (GRCm39)	intron	probably benign
R1575:Alg9	UTSW	9	50,686,802 (GRCm39)	missense	possibly damaging	0.65
R1773:Alg9	UTSW	9	50,690,396 (GRCm39)	missense	probably benign	0.30
R1837:Alg9	UTSW	9	50,717,615 (GRCm39)	missense	probably damaging	1.00
R2011:Alg9	UTSW	9	50,699,500 (GRCm39)	missense	probably damaging	1.00
R4324:Alg9	UTSW	9	50,716,643 (GRCm39)	missense	probably damaging	1.00
R4514:Alg9	UTSW	9	50,716,654 (GRCm39)	missense	possibly damaging	0.90
R4544:Alg9	UTSW	9	50,716,654 (GRCm39)	missense	possibly damaging	0.90
R4546:Alg9	UTSW	9	50,716,654 (GRCm39)	missense	possibly damaging	0.90
R4996:Alg9	UTSW	9	50,720,005 (GRCm39)	missense	probably damaging	1.00
R5053:Alg9	UTSW	9	50,699,472 (GRCm39)	missense	probably damaging	1.00
R5308:Alg9	UTSW	9	50,734,011 (GRCm39)	missense	possibly damaging	0.95
R6803:Alg9	UTSW	9	50,700,860 (GRCm39)	missense	probably benign	0.37
R6994:Alg9	UTSW	9	50,703,422 (GRCm39)	nonsense	probably null
R6998:Alg9	UTSW	9	50,700,921 (GRCm39)	missense	possibly damaging	0.95
R7298:Alg9	UTSW	9	50,690,361 (GRCm39)	missense	probably damaging	0.97
R7480:Alg9	UTSW	9	50,733,928 (GRCm39)	missense	probably benign	0.06
R7561:Alg9	UTSW	9	50,754,074 (GRCm39)	missense	possibly damaging	0.95
R7578:Alg9	UTSW	9	50,700,835 (GRCm39)	missense	probably benign
R7721:Alg9	UTSW	9	50,687,942 (GRCm39)	missense	probably damaging	0.99
R7829:Alg9	UTSW	9	50,699,471 (GRCm39)	missense	probably damaging	1.00
R7847:Alg9	UTSW	9	50,700,905 (GRCm39)	missense	possibly damaging	0.62
R7878:Alg9	UTSW	9	50,754,083 (GRCm39)	missense	probably benign	0.00
R8113:Alg9	UTSW	9	50,720,080 (GRCm39)	nonsense	probably null
R8257:Alg9	UTSW	9	50,690,387 (GRCm39)	missense	possibly damaging	0.62
R9214:Alg9	UTSW	9	50,717,545 (GRCm39)	missense	probably damaging	1.00
R9497:Alg9	UTSW	9	50,711,436 (GRCm39)	missense	probably damaging	0.97
R9511:Alg9	UTSW	9	50,717,525 (GRCm39)	missense	probably damaging	1.00
RF003:Alg9	UTSW	9	50,686,727 (GRCm39)	unclassified	probably benign
RF006:Alg9	UTSW	9	50,686,717 (GRCm39)	unclassified	probably benign
RF058:Alg9	UTSW	9	50,686,727 (GRCm39)	unclassified	probably benign
Z1177:Alg9	UTSW	9	50,699,473 (GRCm39)	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