Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Man2c1'

25957

Institutional Source

Beutler Lab

Gene Symbol

Man2c1

Ensembl Gene

ENSMUSG00000032295

Gene Name

mannosidase, alpha, class 2C, member 1

Synonyms

1110025H24Rik

MMRRC Submission

038538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57037953-57049497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57048467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 777 (V777A)

Ref Sequence

ENSEMBL: ENSMUSP00000124020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000034842] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000161182] [ENSMUST00000186410] [ENSMUST00000161663] [ENSMUST00000162915] [ENSMUST00000160584] [ENSMUST00000161338] [ENSMUST00000190245]

AlphaFold

Q91W89

Predicted Effect

probably benign
Transcript: ENSMUST00000034836
AA Change: V874A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: V874A

Domain	Start	End	E-Value	Type
low complexity region	187	195	N/A	INTRINSIC
Pfam:Glyco_hydro_38	251	510	4.3e-89	PFAM
Alpha-mann_mid	516	593	1.37e-26	SMART
low complexity region	603	613	N/A	INTRINSIC
Pfam:Glyco_hydro_38C	619	1029	1.3e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034842

SMART Domains

Protein: ENSMUSP00000034842
Gene: ENSMUSG00000032298

Domain	Start	End	E-Value	Type
Fapy_DNA_glyco	2	124	2.9e-16	SMART
H2TH	139	224	9.35e-2	SMART
Pfam:Neil1-DNA_bind	252	290	2.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159101

SMART Domains

Protein: ENSMUSP00000124304
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
Alpha-mann_mid	21	100	1.22e-32	SMART
low complexity region	110	120	N/A	INTRINSIC
low complexity region	164	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159711

Predicted Effect

probably benign
Transcript: ENSMUST00000160147
AA Change: V876A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: V876A

Domain	Start	End	E-Value	Type
low complexity region	187	195	N/A	INTRINSIC
Pfam:Glyco_hydro_38	251	510	2.8e-86	PFAM
Alpha-mann_mid	516	595	1.22e-32	SMART
low complexity region	605	615	N/A	INTRINSIC
Pfam:Glyco_hydro_38C	621	1031	1.2e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161182
AA Change: V777A

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295
AA Change: V777A

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_38	175	411	9.4e-67	PFAM
Alpha-mann_mid	417	496	1.22e-32	SMART
low complexity region	506	516	N/A	INTRINSIC
Pfam:Glyco_hydro_38C	522	932	1.1e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159954

Predicted Effect

probably benign
Transcript: ENSMUST00000186410

SMART Domains

Protein: ENSMUSP00000141048
Gene: ENSMUSG00000032298

Domain	Start	End	E-Value	Type
Fapy_DNA_glyco	2	124	2.9e-16	SMART
H2TH	139	224	9.35e-2	SMART
Pfam:Neil1-DNA_bind	252	290	2.1e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161663

SMART Domains

Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
low complexity region	187	195	N/A	INTRINSIC
Pfam:Glyco_hydro_38	302	551	1.8e-81	PFAM
Alpha-mann_mid	557	636	1.22e-32	SMART
low complexity region	646	656	N/A	INTRINSIC
Pfam:Glyco_hydro_38C	662	866	1.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162915

Predicted Effect

probably benign
Transcript: ENSMUST00000160426

SMART Domains

Protein: ENSMUSP00000124005
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
Alpha-mann_mid	24	77	4.48e-1	SMART
low complexity region	87	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160584

SMART Domains

Protein: ENSMUSP00000123840
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
low complexity region	187	195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161338

Predicted Effect

probably benign
Transcript: ENSMUST00000190245

SMART Domains

Protein: ENSMUSP00000139917
Gene: ENSMUSG00000032298

Domain	Start	End	E-Value	Type
Fapy_DNA_glyco	2	124	2.9e-16	SMART
H2TH	139	224	9.35e-2	SMART
Pfam:Neil1-DNA_bind	252	290	2.1e-29	PFAM

Meta Mutation Damage Score

0.1966

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

MGI Phenotype

PHENOTYPE: Germ line null mutants display neuronal and glia degeneration, glycogen accumulation, and liver and kidney damage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,349,430 (GRCm39)	H3668L	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adam28	T	C	14: 68,855,188 (GRCm39)	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arb2a	T	A	13: 77,910,070 (GRCm39)		probably benign	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,969,416 (GRCm39)		probably benign	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534 (GRCm39)		probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,882,614 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,430,349 (GRCm39)	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,079,135 (GRCm39)	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Crcp	C	A	5: 130,071,083 (GRCm39)	Q61K	possibly damaging	Het
Crppa	C	T	12: 36,431,837 (GRCm39)	A22V	possibly damaging	Het
Dcaf8	T	A	1: 172,014,978 (GRCm39)	D414E	probably benign	Het
Ddx28	T	C	8: 106,736,877 (GRCm39)	T394A	probably benign	Het
Ddx55	T	C	5: 124,697,210 (GRCm39)	F191L	probably benign	Het
Dnaaf1	T	C	8: 120,322,756 (GRCm39)		probably benign	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elf5	A	G	2: 103,260,765 (GRCm39)		probably benign	Het
Emcn	T	A	3: 137,122,575 (GRCm39)		probably benign	Het
Erbb4	T	C	1: 68,337,439 (GRCm39)		probably benign	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Etfdh	T	C	3: 79,517,151 (GRCm39)	I353V	probably benign	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fbxl12	C	T	9: 20,549,776 (GRCm39)	G316D	probably damaging	Het
Gbf1	G	A	19: 46,260,709 (GRCm39)		probably null	Het
Gbp2b	T	G	3: 142,313,937 (GRCm39)	S406A	probably benign	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,531,235 (GRCm39)		probably benign	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,397,927 (GRCm39)	I285T	probably benign	Het
Hrh4	A	G	18: 13,140,302 (GRCm39)		probably benign	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Hspa13	A	T	16: 75,562,018 (GRCm39)	D60E	probably damaging	Het
Htt	T	A	5: 34,974,478 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,750,783 (GRCm39)		probably null	Het
Kif14	G	C	1: 136,423,764 (GRCm39)		probably benign	Het
Kit	T	G	5: 75,813,489 (GRCm39)	V888G	probably damaging	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrriq4	T	C	3: 30,709,873 (GRCm39)	S406P	probably benign	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,830,960 (GRCm39)	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,737,965 (GRCm39)	F11L	probably benign	Het
Nutf2	T	A	8: 106,602,995 (GRCm39)	S37T	probably damaging	Het
Obscn	T	A	11: 58,931,267 (GRCm39)	I5790F	probably damaging	Het
Obscn	A	T	11: 58,943,332 (GRCm39)	D4833E	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7d9	T	A	9: 20,197,153 (GRCm39)	S61T	possibly damaging	Het
Or8g35	T	C	9: 39,381,852 (GRCm39)	T57A	possibly damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcdhb1	A	G	18: 37,400,077 (GRCm39)	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Pdk1	T	C	2: 71,726,018 (GRCm39)		probably benign	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,019,474 (GRCm39)		probably benign	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,830 (GRCm39)		probably benign	Het
Prdm5	T	C	6: 65,839,887 (GRCm39)		probably benign	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,307,702 (GRCm39)	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,078,996 (GRCm39)	R218*	probably null	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stat4	A	G	1: 52,130,029 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,829 (GRCm39)	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tgm4	T	C	9: 122,877,622 (GRCm39)		probably null	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Tmem145	A	G	7: 25,008,099 (GRCm39)		probably benign	Het
Tsacc	A	G	3: 88,190,169 (GRCm39)	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,151,264 (GRCm39)	K290R	probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Usp10	T	A	8: 120,663,296 (GRCm39)	C39*	probably null	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,598,439 (GRCm39)	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Wdr27	A	G	17: 15,154,721 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,998,127 (GRCm39)		probably benign	Het
Zcwpw2	C	A	9: 117,843,123 (GRCm39)		noncoding transcript	Het
Zdhhc1	C	A	8: 106,210,175 (GRCm39)	A81S	probably benign	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably damaging	Het

Other mutations in Man2c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Man2c1	APN	9	57,049,103 (GRCm39)	missense	probably benign
IGL01408:Man2c1	APN	9	57,048,884 (GRCm39)	missense	probably damaging	1.00
IGL01618:Man2c1	APN	9	57,048,840 (GRCm39)	unclassified	probably benign
IGL01750:Man2c1	APN	9	57,048,064 (GRCm39)	critical splice donor site	probably null
IGL01796:Man2c1	APN	9	57,045,244 (GRCm39)	missense	possibly damaging	0.52
IGL02661:Man2c1	APN	9	57,044,766 (GRCm39)	missense	probably damaging	1.00
IGL03166:Man2c1	APN	9	57,046,382 (GRCm39)	missense	probably damaging	1.00
IGL03176:Man2c1	APN	9	57,048,030 (GRCm39)	missense	probably benign	0.05
IGL03209:Man2c1	APN	9	57,049,114 (GRCm39)	missense	probably benign	0.00
R0014:Man2c1	UTSW	9	57,046,985 (GRCm39)	missense	probably benign	0.00
R0432:Man2c1	UTSW	9	57,042,881 (GRCm39)	missense	probably damaging	1.00
R1448:Man2c1	UTSW	9	57,042,503 (GRCm39)	missense	probably benign	0.23
R1616:Man2c1	UTSW	9	57,042,793 (GRCm39)	missense	probably benign	0.00
R1838:Man2c1	UTSW	9	57,044,621 (GRCm39)	missense	probably benign	0.07
R2511:Man2c1	UTSW	9	57,048,672 (GRCm39)	splice site	probably null
R3751:Man2c1	UTSW	9	57,048,058 (GRCm39)	missense	probably damaging	1.00
R3771:Man2c1	UTSW	9	57,047,661 (GRCm39)	unclassified	probably benign
R3772:Man2c1	UTSW	9	57,047,661 (GRCm39)	unclassified	probably benign
R4110:Man2c1	UTSW	9	57,044,055 (GRCm39)	missense	probably damaging	0.98
R4116:Man2c1	UTSW	9	57,047,589 (GRCm39)	critical splice donor site	probably null
R4167:Man2c1	UTSW	9	57,045,310 (GRCm39)	missense	probably benign	0.15
R4169:Man2c1	UTSW	9	57,045,310 (GRCm39)	missense	probably benign	0.15
R4170:Man2c1	UTSW	9	57,045,310 (GRCm39)	missense	probably benign	0.15
R4405:Man2c1	UTSW	9	57,046,367 (GRCm39)	missense	probably damaging	0.98
R4551:Man2c1	UTSW	9	57,038,445 (GRCm39)	missense	probably damaging	1.00
R4618:Man2c1	UTSW	9	57,049,439 (GRCm39)	splice site	probably null
R4798:Man2c1	UTSW	9	57,048,469 (GRCm39)	nonsense	probably null
R4903:Man2c1	UTSW	9	57,046,240 (GRCm39)	missense	probably benign	0.08
R5030:Man2c1	UTSW	9	57,047,923 (GRCm39)	missense	probably benign	0.00
R5079:Man2c1	UTSW	9	57,044,000 (GRCm39)	missense	probably damaging	1.00
R5086:Man2c1	UTSW	9	57,038,924 (GRCm39)	missense	probably damaging	0.96
R6430:Man2c1	UTSW	9	57,038,517 (GRCm39)	missense	possibly damaging	0.91
R6695:Man2c1	UTSW	9	57,048,875 (GRCm39)	missense	probably benign	0.03
R6743:Man2c1	UTSW	9	57,042,849 (GRCm39)	missense	probably benign	0.41
R7011:Man2c1	UTSW	9	57,045,117 (GRCm39)	missense	probably damaging	1.00
R7493:Man2c1	UTSW	9	57,048,412 (GRCm39)	missense	probably damaging	0.98
R7513:Man2c1	UTSW	9	57,046,683 (GRCm39)	missense	probably benign	0.44
R7527:Man2c1	UTSW	9	57,045,100 (GRCm39)	nonsense	probably null
R7540:Man2c1	UTSW	9	57,047,559 (GRCm39)	missense	probably damaging	1.00
R7760:Man2c1	UTSW	9	57,046,647 (GRCm39)	missense	probably benign	0.23
R7868:Man2c1	UTSW	9	57,045,270 (GRCm39)	missense	probably damaging	0.99
R8261:Man2c1	UTSW	9	57,046,942 (GRCm39)	missense	probably benign	0.17
R8397:Man2c1	UTSW	9	57,042,783 (GRCm39)	missense	probably benign	0.01
R8429:Man2c1	UTSW	9	57,038,445 (GRCm39)	missense	probably damaging	1.00
R8519:Man2c1	UTSW	9	57,044,061 (GRCm39)	missense	probably benign	0.12
R8530:Man2c1	UTSW	9	57,038,922 (GRCm39)	missense	probably damaging	1.00
R8544:Man2c1	UTSW	9	57,038,325 (GRCm39)	splice site	probably null
R8925:Man2c1	UTSW	9	57,048,456 (GRCm39)	nonsense	probably null
R8927:Man2c1	UTSW	9	57,048,456 (GRCm39)	nonsense	probably null
R8960:Man2c1	UTSW	9	57,045,279 (GRCm39)	missense	probably damaging	1.00
R9171:Man2c1	UTSW	9	57,044,317 (GRCm39)	nonsense	probably null
R9326:Man2c1	UTSW	9	57,042,904 (GRCm39)	missense	probably damaging	1.00
R9414:Man2c1	UTSW	9	57,044,030 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AACAATGACTGACACCTGTGCTCTC -3'
(R):5'- CTGGTACATACCCTTGTGTGGCATC -3'

Sequencing Primer
(F):5'- cagatgaggaagcaggcag -3'
(R):5'- CCTTGTGTGGCATCAAAGC -3'

Posted On

2013-04-16