Mutagenetix > Incidental Mutation

Incidental Mutation 'R1980:Alg11'

222152

Institutional Source

Beutler Lab

Gene Symbol

Alg11

Ensembl Gene

ENSMUSG00000063362

Gene Name

ALG11 alpha-1,2-mannosyltransferase

Synonyms

MMRRC Submission

039992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22550737-22561643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22551903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 16 (F16I)

Ref Sequence

ENSEMBL: ENSMUSP00000106365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000072572] [ENSMUST00000110737] [ENSMUST00000110738]

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

possibly damaging
Transcript: ENSMUST00000072572
AA Change: F16I

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072382
Gene: ENSMUSG00000063362
AA Change: F16I

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

possibly damaging
Transcript: ENSMUST00000110737
AA Change: F16I

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106365
Gene: ENSMUSG00000063362
AA Change: F16I

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: ENSMUST00000110738

SMART Domains

Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567

Domain	Start	End	E-Value	Type
Pfam:HMA	59	120	1.2e-13	PFAM
Pfam:HMA	144	205	9.7e-12	PFAM
PDB:2AW0\|A	259	314	6e-6	PDB
Pfam:HMA	378	439	1.6e-13	PFAM
Pfam:HMA	454	515	1.5e-15	PFAM
transmembrane domain	541	560	N/A	INTRINSIC
Pfam:E1-E2_ATPase	656	904	4.6e-50	PFAM
Pfam:Hydrolase	908	1161	6.6e-76	PFAM
Pfam:HAD	911	1158	1.5e-15	PFAM
Pfam:Hydrolase_3	1128	1193	8.5e-7	PFAM
transmembrane domain	1207	1229	N/A	INTRINSIC
low complexity region	1238	1255	N/A	INTRINSIC
low complexity region	1303	1322	N/A	INTRINSIC

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,386,702 (GRCm39)	I620S	possibly damaging	Het
Acot8	A	G	2: 164,636,964 (GRCm39)	F262S	probably damaging	Het
Adgb	C	T	10: 10,309,242 (GRCm39)	V246I	probably benign	Het
Akap9	T	A	5: 4,022,771 (GRCm39)	M1200K	probably damaging	Het
Apol7c	A	G	15: 77,410,244 (GRCm39)	V234A	probably benign	Het
Arhgap19	T	G	19: 41,776,784 (GRCm39)	I122L	possibly damaging	Het
Arhgef37	A	G	18: 61,641,767 (GRCm39)	S201P	probably damaging	Het
Asgr1	A	T	11: 69,945,772 (GRCm39)	D16V	probably damaging	Het
Camta2	A	T	11: 70,573,308 (GRCm39)	C227S	probably benign	Het
Cd22	A	T	7: 30,572,658 (GRCm39)	L317Q	probably damaging	Het
Cenpf	A	T	1: 189,386,112 (GRCm39)	I2056K	probably benign	Het
Cenpi	T	A	X: 133,218,782 (GRCm39)	F161L	possibly damaging	Het
Ciapin1	C	T	8: 95,559,161 (GRCm39)	V43I	probably benign	Het
Cox5b-ps	T	G	13: 21,685,294 (GRCm39)	T99P	possibly damaging	Het
Dach1	A	G	14: 98,068,777 (GRCm39)	L601P	probably damaging	Het
Ddx11	T	A	17: 66,455,734 (GRCm39)	L711Q	probably damaging	Het
Dsg1a	A	T	18: 20,471,707 (GRCm39)	N653I	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Galnt5	T	C	2: 57,914,735 (GRCm39)		probably null	Het
Gemin5	A	G	11: 58,027,743 (GRCm39)	L935P	probably damaging	Het
Gm9507	A	T	10: 77,647,519 (GRCm39)	C53*	probably null	Het
Irgm2	A	G	11: 58,110,902 (GRCm39)	I198V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klf12	A	C	14: 100,387,162 (GRCm39)		probably null	Het
Lpp	C	T	16: 24,480,451 (GRCm39)	P73L	probably damaging	Het
Lrrc34	G	A	3: 30,696,890 (GRCm39)	H127Y	probably benign	Het
Lyar	T	C	5: 38,382,053 (GRCm39)	S12P	probably damaging	Het
Maml3	A	G	3: 52,011,473 (GRCm39)	I31T	unknown	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Minar2	T	A	18: 59,208,739 (GRCm39)	M129K	probably damaging	Het
Mysm1	A	T	4: 94,840,450 (GRCm39)	N655K	probably benign	Het
Npnt	T	C	3: 132,653,893 (GRCm39)	I29M	probably benign	Het
Nrxn1	A	G	17: 91,395,746 (GRCm39)	W137R	probably benign	Het
Numb	C	T	12: 83,844,118 (GRCm39)		probably null	Het
Obsl1	A	G	1: 75,482,480 (GRCm39)	F130S	probably damaging	Het
Or2h1	T	G	17: 37,404,295 (GRCm39)	Q157P	probably damaging	Het
Or4k47	T	A	2: 111,451,586 (GRCm39)	I278F	probably benign	Het
Pbx4	T	C	8: 70,322,776 (GRCm39)	V294A	probably benign	Het
Pde4dip	A	C	3: 97,664,312 (GRCm39)	L524R	possibly damaging	Het
Plppr1	G	A	4: 49,337,655 (GRCm39)	A319T	probably benign	Het
Ppid	A	T	3: 79,500,925 (GRCm39)	I32F	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Prkcsh	A	G	9: 21,924,164 (GRCm39)	D458G	probably damaging	Het
Prr27	A	G	5: 87,991,261 (GRCm39)	E291G	probably benign	Het
Psme4	A	T	11: 30,782,615 (GRCm39)	K923N	possibly damaging	Het
Rab25	T	C	3: 88,450,765 (GRCm39)	T45A	probably damaging	Het
Rapgef1	C	T	2: 29,612,239 (GRCm39)	P630S	probably benign	Het
Rasa2	T	C	9: 96,452,821 (GRCm39)	D355G	probably damaging	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rtn4	A	T	11: 29,658,634 (GRCm39)	E929D	probably benign	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Slk	T	G	19: 47,600,428 (GRCm39)	I151S	probably damaging	Het
Spin1	T	A	13: 51,298,506 (GRCm39)	V175D	probably damaging	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tmem151b	G	C	17: 45,856,387 (GRCm39)	P351R	possibly damaging	Het
Tmod1	A	C	4: 46,061,043 (GRCm39)	Y10S	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm1	T	C	7: 63,858,182 (GRCm39)	Y225H	possibly damaging	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Tyro3	A	G	2: 119,639,298 (GRCm39)	D335G	probably benign	Het
Unc79	C	A	12: 102,977,538 (GRCm39)	Y180*	probably null	Het
Upp1	A	T	11: 9,084,872 (GRCm39)	D197V	possibly damaging	Het
Vmn1r226	T	A	17: 20,908,308 (GRCm39)	M180K	possibly damaging	Het
Vtn	T	A	11: 78,392,724 (GRCm39)	I434N	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp819	A	G	7: 43,265,885 (GRCm39)	T47A	probably benign	Het
Zyg11b	G	A	4: 108,123,127 (GRCm39)	T280I	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
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
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'- GCCCTGAATCACCAGTCATC -3'
(R):5'- CCACCTGCATTACAGTATGGATG -3'

Sequencing Primer
(F):5'- CTGGAGCTCACTTTGTAGACCAG -3'
(R):5'- GGAAAAATGCAACCACCGTTTGTTC -3'

Posted On

2014-08-25