Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Alg11'

233921

Institutional Source

Beutler Lab

Gene Symbol

Alg11

Ensembl Gene

ENSMUSG00000063362

Gene Name

ALG11 alpha-1,2-mannosyltransferase

Synonyms

MMRRC Submission

040150-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22550737-22561643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22555309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 108 (G108D)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000072572] [ENSMUST00000110737]

AlphaFold

Q3TZM9

Predicted Effect

probably benign
Transcript: ENSMUST00000006742

SMART Domains

Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567

Domain	Start	End	E-Value	Type
Pfam:HMA	71	132	8.8e-14	PFAM
Pfam:HMA	156	217	6.6e-13	PFAM
Pfam:HMA	271	329	7.4e-13	PFAM
Pfam:HMA	364	425	1.1e-10	PFAM
Pfam:HMA	493	554	2.3e-14	PFAM
Pfam:HMA	569	630	3.1e-15	PFAM
transmembrane domain	656	675	N/A	INTRINSIC
Pfam:E1-E2_ATPase	770	1018	3.3e-60	PFAM
Pfam:Hydrolase	1023	1276	1.3e-67	PFAM
Pfam:HAD	1026	1273	4.6e-10	PFAM
Pfam:Hydrolase_3	1243	1308	5.1e-7	PFAM
transmembrane domain	1322	1344	N/A	INTRINSIC
low complexity region	1353	1370	N/A	INTRINSIC
low complexity region	1418	1437	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072572
AA Change: G190D

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072382
Gene: ENSMUSG00000063362
AA Change: G190D

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: G148D

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106365
Gene: ENSMUSG00000063362
AA Change: G148D

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 damaging
Transcript: ENSMUST00000131624
AA Change: G108D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119161
Gene: ENSMUSG00000063362
AA Change: G108D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134474

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,903,003 (GRCm39)	M91K	probably benign	Het
Abr	T	C	11: 76,346,474 (GRCm39)	R437G	probably damaging	Het
Acaca	T	G	11: 84,167,362 (GRCm39)	D1045E	probably benign	Het
Adam23	A	T	1: 63,573,521 (GRCm39)		probably null	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Alox12e	A	T	11: 70,210,771 (GRCm39)	I316N	probably damaging	Het
Arid1a	A	T	4: 133,408,677 (GRCm39)	F1943L	unknown	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC035044	T	C	6: 128,867,867 (GRCm39)		probably benign	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccnf	A	T	17: 24,449,288 (GRCm39)		probably null	Het
Cdadc1	A	G	14: 59,835,202 (GRCm39)		probably null	Het
Cep57l1	A	G	10: 41,616,895 (GRCm39)	Y131H	probably damaging	Het
Cfap251	T	C	5: 123,394,254 (GRCm39)	V381A	probably benign	Het
Cfap44	A	G	16: 44,272,047 (GRCm39)	R1267G	probably benign	Het
Chd3	A	T	11: 69,239,854 (GRCm39)	L1658Q	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chpf2	T	A	5: 24,797,033 (GRCm39)	F660I	probably damaging	Het
Cmas	T	A	6: 142,717,015 (GRCm39)	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562 (GRCm39)	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dennd3	T	G	15: 73,395,336 (GRCm39)	L143R	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,855,024 (GRCm39)		probably null	Het
Fbxl15	A	T	19: 46,317,627 (GRCm39)	D103V	probably damaging	Het
Gm4781	C	A	10: 100,232,414 (GRCm39)		noncoding transcript	Het
Hpca	A	G	4: 129,012,278 (GRCm39)	I86T	possibly damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lipe	G	T	7: 25,087,946 (GRCm39)	A38E	probably benign	Het
Lrrk1	A	T	7: 65,935,159 (GRCm39)		probably null	Het
Lrsam1	T	C	2: 32,835,891 (GRCm39)	K292R	probably damaging	Het
Mbtps1	A	T	8: 120,265,598 (GRCm39)	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063 (GRCm39)	Y525*	probably null	Het
Mrps14	T	C	1: 160,022,862 (GRCm39)	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo15a	A	G	11: 60,401,055 (GRCm39)	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,966,543 (GRCm39)	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,451,243 (GRCm39)	F42I	probably benign	Het
Or5k8	T	A	16: 58,644,842 (GRCm39)	I77F	probably damaging	Het
Pank1	T	C	19: 34,804,754 (GRCm39)	H134R	probably benign	Het
Pcdh7	T	A	5: 58,286,458 (GRCm39)	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,717,633 (GRCm39)	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pitpnc1	C	T	11: 107,103,344 (GRCm39)	A252T	probably damaging	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Prpf8	A	G	11: 75,381,357 (GRCm39)	I231V	probably benign	Het
Scin	T	A	12: 40,130,984 (GRCm39)	M310L	probably benign	Het
Serpina3m	T	A	12: 104,355,483 (GRCm39)	I50N	probably benign	Het
Skint8	C	G	4: 111,794,274 (GRCm39)	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,366,990 (GRCm39)	V673M	probably benign	Het
Slc24a5	A	G	2: 124,929,361 (GRCm39)	D368G	probably damaging	Het
Slc28a1	A	T	7: 80,776,015 (GRCm39)	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,705,583 (GRCm39)	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,262,717 (GRCm39)	Y320H	probably damaging	Het
Syne3	T	A	12: 104,919,357 (GRCm39)	D512V	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,601,701 (GRCm39)	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,223,861 (GRCm39)	I217V	probably benign	Het
Tmem45b	A	G	9: 31,340,277 (GRCm39)	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,412,456 (GRCm39)	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,840,116 (GRCm39)	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,132,139 (GRCm39)	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,694,811 (GRCm39)	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,114,583 (GRCm39)	I82M	probably benign	Het
Vmn2r129	T	C	4: 156,687,014 (GRCm39)		noncoding transcript	Het
Vps41	G	T	13: 19,023,904 (GRCm39)		probably null	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,209,616 (GRCm39)	H731R	probably damaging	Het
Zfp712	T	C	13: 67,189,960 (GRCm39)	E189G	possibly 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
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
R5859:Alg11	UTSW	8	22,555,857 (GRCm39)	missense	probably benign	0.10
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'- TCAAGTTGGCTCACCCAGTG -3'
(R):5'- CATGACTATGTCACTGCAAGATCC -3'

Sequencing Primer
(F):5'- GCTCACCCAGTGCAGTTTG -3'
(R):5'- TATGTCACTGCAAGATCCAACAAGG -3'

Posted On

2014-10-01