Mutagenetix > Incidental Mutation

Incidental Mutation 'R5859:Alg11'

455066

Institutional Source

Beutler Lab

Gene Symbol

Alg11

Ensembl Gene

ENSMUSG00000063362

Gene Name

ALG11 alpha-1,2-mannosyltransferase

Synonyms

MMRRC Submission

044071-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22550737-22561643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22555857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 373 (K373E)

Ref Sequence

ENSEMBL: ENSMUSP00000072382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072572] [ENSMUST00000110737]

AlphaFold

Q3TZM9

Predicted Effect

probably benign
Transcript: ENSMUST00000072572
AA Change: K373E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072382
Gene: ENSMUSG00000063362
AA Change: K373E

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:ALG11_N	62	269	2.6e-94	PFAM
Pfam:Glycos_transf_1	293	470	1.4e-30	PFAM
Pfam:Glyco_trans_1_4	301	454	8.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110737
AA Change: K331E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106365
Gene: ENSMUSG00000063362
AA Change: K331E

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
Pfam:Glycos_transf_1	248	428	3.8e-29	PFAM
Pfam:Glyco_trans_1_4	259	412	7.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131624

SMART Domains

Protein: ENSMUSP00000119161
Gene: ENSMUSG00000063362

Domain	Start	End	E-Value	Type
Pfam:ALG11_N	4	160	1.4e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134474

Meta Mutation Damage Score

0.1011

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

93% (70/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,303,477 (GRCm39)	V150E	probably benign	Het
Arl14ep	C	T	2: 106,799,398 (GRCm39)		probably benign	Het
Ascc2	G	A	11: 4,608,284 (GRCm39)	G227R	probably benign	Het
Ash1l	C	T	3: 88,976,300 (GRCm39)	P2627S	probably damaging	Het
Btla	T	G	16: 45,059,402 (GRCm39)		probably null	Het
Btnl10	C	T	11: 58,813,138 (GRCm39)	P256S	probably benign	Het
Cep162	C	T	9: 87,086,145 (GRCm39)	A1060T	probably damaging	Het
Cfap54	T	A	10: 92,852,386 (GRCm39)	K907*	probably null	Het
Chpf	A	T	1: 75,452,072 (GRCm39)	F461I	probably damaging	Het
Chrdl2	A	G	7: 99,670,114 (GRCm39)	Y79C	probably damaging	Het
Copb2	G	A	9: 98,450,161 (GRCm39)	C40Y	probably benign	Het
Cyfip1	T	C	7: 55,574,929 (GRCm39)	L1060P	probably damaging	Het
Drg1	G	A	11: 3,209,273 (GRCm39)		probably benign	Het
Erich3	A	G	3: 154,468,134 (GRCm39)	D862G	possibly damaging	Het
Flii	G	T	11: 60,607,137 (GRCm39)	Y946*	probably null	Het
Glt8d2	T	C	10: 82,507,915 (GRCm39)	M1V	probably null	Het
Gm21136	T	A	7: 38,567,165 (GRCm39)		noncoding transcript	Het
Gramd1c	T	C	16: 43,812,454 (GRCm39)	T393A	possibly damaging	Het
Gucy2d	T	A	7: 98,101,090 (GRCm39)	I471N	probably benign	Het
Hps3	G	A	3: 20,063,034 (GRCm39)	T711M	probably benign	Het
Hs3st4	A	T	7: 123,582,831 (GRCm39)	D143V	probably benign	Het
Kif17	T	A	4: 138,018,744 (GRCm39)	M461K	possibly damaging	Het
Klhdc7a	T	A	4: 139,694,885 (GRCm39)	S21C	probably damaging	Het
Klk15	G	A	7: 43,587,800 (GRCm39)	R76H	probably benign	Het
Lnpk	G	A	2: 74,399,372 (GRCm39)	T57I	possibly damaging	Het
Ltbp2	A	G	12: 84,840,837 (GRCm39)	V999A	possibly damaging	Het
Ltbr	T	C	6: 125,289,771 (GRCm39)	H141R	probably damaging	Het
Lvrn	T	C	18: 47,026,816 (GRCm39)	F805L	probably damaging	Het
Ms4a13	A	T	19: 11,161,280 (GRCm39)	C86*	probably null	Het
Ncbp1	A	G	4: 46,163,026 (GRCm39)	N480S	probably benign	Het
Nelfcd	T	G	2: 174,268,856 (GRCm39)	*592G	probably null	Het
Neurog2	T	C	3: 127,427,664 (GRCm39)	V96A	probably benign	Het
Nod1	A	T	6: 54,907,162 (GRCm39)	W902R	probably benign	Het
Or12d13	T	C	17: 37,647,260 (GRCm39)	I288V	possibly damaging	Het
Or4k15c	T	A	14: 50,321,484 (GRCm39)	Y218F	probably damaging	Het
Or55b3	T	C	7: 102,126,957 (GRCm39)	Y40C	possibly damaging	Het
Or6d13	T	C	6: 116,517,861 (GRCm39)	L149P	probably damaging	Het
Pcdha11	A	T	18: 37,140,336 (GRCm39)	H655L	probably damaging	Het
Plpp7	A	G	2: 31,985,996 (GRCm39)	E58G	probably benign	Het
Psph	A	T	5: 129,867,685 (GRCm39)		probably benign	Het
Rab11fip1	A	C	8: 27,644,748 (GRCm39)	S346A	probably damaging	Het
Rreb1	C	A	13: 38,131,384 (GRCm39)	P1513T	probably benign	Het
Rreb1	C	T	13: 38,131,385 (GRCm39)	P1513L	probably benign	Het
Rsf1	C	T	7: 97,334,766 (GRCm39)	R1300C	probably damaging	Het
Scap	A	G	9: 110,203,115 (GRCm39)	N263S	probably benign	Het
Sec24d	A	T	3: 123,072,961 (GRCm39)		probably benign	Het
Slain2	T	C	5: 73,105,888 (GRCm39)		probably benign	Het
Slc6a18	G	T	13: 73,816,278 (GRCm39)	T367N	probably benign	Het
Slk	T	A	19: 47,597,481 (GRCm39)	D96E	probably benign	Het
Spag5	G	A	11: 78,204,360 (GRCm39)	V514I	probably benign	Het
St8sia2	T	C	7: 73,616,654 (GRCm39)	D107G	probably damaging	Het
Tgfbr3	T	A	5: 107,288,381 (GRCm39)	I427F	probably benign	Het
Tlr2	T	G	3: 83,743,810 (GRCm39)	T758P	possibly damaging	Het
Tmem270	A	G	5: 134,931,738 (GRCm39)	V68A	probably benign	Het
Vmn2r106	T	A	17: 20,505,583 (GRCm39)	H37L	possibly damaging	Het
Vmn2r27	T	G	6: 124,177,647 (GRCm39)	R452S	probably damaging	Het
Wdr5	A	G	2: 27,423,362 (GRCm39)	Y252C	probably damaging	Het
Zswim9	C	T	7: 12,995,371 (GRCm39)	V262M	probably damaging	Het

Other mutations in Alg11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02612:Alg11	APN	8	22,551,999 (GRCm39)	missense	probably benign	0.22
1mM(1):Alg11	UTSW	8	22,564,073 (GRCm39)	missense	probably benign
R0240:Alg11	UTSW	8	22,555,468 (GRCm39)	missense	possibly damaging	0.83
R1908:Alg11	UTSW	8	22,555,584 (GRCm39)	missense	probably damaging	1.00
R1980:Alg11	UTSW	8	22,551,903 (GRCm39)	missense	possibly damaging	0.69
R2090:Alg11	UTSW	8	22,555,646 (GRCm39)	missense	possibly damaging	0.80
R2147:Alg11	UTSW	8	22,555,309 (GRCm39)	missense	probably damaging	1.00
R2159:Alg11	UTSW	8	22,555,861 (GRCm39)	missense	probably benign	0.44
R2265:Alg11	UTSW	8	22,555,630 (GRCm39)	missense	probably benign
R2760:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R2761:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R2762:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R2763:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R2764:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R2877:Alg11	UTSW	8	22,555,374 (GRCm39)	missense	possibly damaging	0.93
R4165:Alg11	UTSW	8	22,555,573 (GRCm39)	missense	probably damaging	1.00
R4230:Alg11	UTSW	8	22,555,534 (GRCm39)	missense	probably damaging	1.00
R4370:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R4371:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R4447:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R4448:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R4450:Alg11	UTSW	8	22,558,095 (GRCm39)	missense	probably benign	0.00
R4840:Alg11	UTSW	8	22,558,026 (GRCm39)	missense	possibly damaging	0.91
R5988:Alg11	UTSW	8	22,552,044 (GRCm39)	missense	probably benign	0.00
R7293:Alg11	UTSW	8	22,555,395 (GRCm39)	missense	probably damaging	1.00
R7417:Alg11	UTSW	8	22,552,044 (GRCm39)	missense	probably benign	0.00
R7610:Alg11	UTSW	8	22,555,147 (GRCm39)	missense	probably damaging	1.00
R8388:Alg11	UTSW	8	22,552,050 (GRCm39)	missense	probably benign	0.03
R8708:Alg11	UTSW	8	22,555,129 (GRCm39)	missense	probably damaging	1.00
X0019:Alg11	UTSW	8	22,555,440 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TTGCAGATCAAAGCCTTTGC -3'
(R):5'- ACATCTGTAGCTGCCTGAGTC -3'

Sequencing Primer
(F):5'- GCTAAATTGTTAAATGAGAAAGCAGC -3'
(R):5'- GTGCTGCTACCATGGAGTCTAAC -3'

Posted On

2017-02-10