Mutagenetix > Incidental Mutations

Incidental Mutation 'R1616:Man2c1'

174264

Institutional Source

Beutler Lab

Gene Symbol

Man2c1

Ensembl Gene

ENSMUSG00000032295

Gene Name

mannosidase, alpha, class 2C, member 1

Synonyms

MMRRC Submission

039653-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57130690-57142722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57135509 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 221 (I221T)

Ref Sequence

ENSEMBL: ENSMUSP00000124124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000160584] [ENSMUST00000161182] [ENSMUST00000161338] [ENSMUST00000161393] [ENSMUST00000161663] [ENSMUST00000162915]

Predicted Effect

probably benign
Transcript: ENSMUST00000034836
AA Change: I221T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: I221T

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

noncoding transcript
Transcript: ENSMUST00000125333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142077

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

noncoding transcript
Transcript: ENSMUST00000159843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160122

Predicted Effect

probably benign
Transcript: ENSMUST00000160147
AA Change: I221T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: I221T

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: 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: ENSMUST00000161182

SMART Domains

Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295

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

probably benign
Transcript: ENSMUST00000161338

Predicted Effect

probably benign
Transcript: ENSMUST00000161393

Predicted Effect

probably benign
Transcript: ENSMUST00000161663
AA Change: I221T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295
AA Change: I221T

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

noncoding transcript
Transcript: ENSMUST00000161696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162738

Predicted Effect

probably benign
Transcript: ENSMUST00000162915

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.3%
20x: 85.3%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	T	C	10: 20,311,341		probably benign	Het
A1cf	A	G	19: 31,934,775	E430G	probably damaging	Het
Aacs	T	A	5: 125,484,526		probably null	Het
Acot12	G	A	13: 91,772,767	V331I	probably benign	Het
Acp7	A	G	7: 28,611,078	W445R	probably damaging	Het
Actl11	C	A	9: 107,931,936	Q1153K	probably benign	Het
Actr8	A	G	14: 29,982,644	T34A	possibly damaging	Het
Ahnak	A	G	19: 9,008,987	D2545G	possibly damaging	Het
Ap5z1	A	G	5: 142,472,236	Y388C	probably benign	Het
Apol7a	C	T	15: 77,389,606	G219S	probably damaging	Het
Arid1b	T	A	17: 5,339,294	I1705N	probably damaging	Het
Bod1l	T	C	5: 41,808,715	Q2669R	probably benign	Het
Braf	A	T	6: 39,643,133	S504T	probably benign	Het
Cbl	A	T	9: 44,152,900	Y780N	probably damaging	Het
Cd86	T	C	16: 36,628,976	I20V	probably benign	Het
Cep290	T	G	10: 100,568,836	D2353E	probably benign	Het
Ckmt2	G	A	13: 91,859,209	R289C	probably benign	Het
Col3a1	T	C	1: 45,328,488		probably null	Het
Cyp4f16	T	A	17: 32,542,968	Y163*	probably null	Het
Dimt1	T	C	13: 106,953,450	V227A	possibly damaging	Het
Dnah6	A	T	6: 73,100,112	M2338K	probably benign	Het
Dock4	T	G	12: 40,669,045	I274S	probably damaging	Het
Enthd1	T	C	15: 80,452,385	D616G	probably damaging	Het
Fignl2	T	C	15: 101,054,116	E95G	probably damaging	Het
Foxn1	A	G	11: 78,358,866	M611T	probably benign	Het
Foxs1	T	C	2: 152,932,639	S165G	probably benign	Het
Fzd3	G	T	14: 65,235,507	Q271K	probably benign	Het
Hadhb	A	T	5: 30,166,715	I55F	probably damaging	Het
Hipk3	G	A	2: 104,433,745	Q824*	probably null	Het
Hps1	G	A	19: 42,767,185	R201W	probably damaging	Het
Kif21b	T	C	1: 136,171,685	S1477P	probably damaging	Het
Kif26a	A	T	12: 112,157,246		probably null	Het
Krt90	T	C	15: 101,560,591	E172G	possibly damaging	Het
Lama4	T	G	10: 39,075,450	F1064V	probably damaging	Het
Leng9	A	G	7: 4,148,903	V258A	probably benign	Het
Lgi2	A	C	5: 52,546,638	V217G	probably benign	Het
Lpgat1	T	C	1: 191,763,629	I310T	possibly damaging	Het
Ltbp3	A	G	19: 5,746,967	Y374C	probably damaging	Het
Magi2	C	A	5: 20,609,326	T1075K	probably damaging	Het
Mydgf	A	G	17: 56,179,415	M72T	possibly damaging	Het
Myo1b	T	C	1: 51,776,315	N624S	probably damaging	Het
Myo5c	T	A	9: 75,296,017	M1465K	probably damaging	Het
Nek4	A	T	14: 30,987,137	D716V	probably damaging	Het
Nfxl1	T	A	5: 72,529,037	Q607L	probably benign	Het
Nlrp9c	A	T	7: 26,384,437	D572E	probably benign	Het
Nop14	G	T	5: 34,650,413	Q402K	possibly damaging	Het
Npy5r	C	G	8: 66,681,400	C247S	probably damaging	Het
Nrap	T	A	19: 56,389,823	I19F	probably damaging	Het
Olfr1189	A	G	2: 88,592,008	D68G	probably damaging	Het
Olfr1336	T	G	7: 6,460,745	S79A	probably damaging	Het
Olfr574	T	A	7: 102,948,514	N16K	probably damaging	Het
Pcdh9	A	T	14: 93,886,969	Y588*	probably null	Het
Ppp1r12a	A	G	10: 108,260,867	E183G	probably damaging	Het
Ppp2r2b	T	A	18: 42,688,310	H261L	probably benign	Het
Ptch1	G	T	13: 63,539,842	T374K	possibly damaging	Het
Ptpn13	A	T	5: 103,565,237	N1742I	possibly damaging	Het
Rab33a	C	T	X: 48,519,644	S15L	probably benign	Het
Ralb	T	C	1: 119,478,014	Y75C	probably damaging	Het
Rassf7	T	A	7: 141,216,732	V2D	probably damaging	Het
Rbm10	A	G	X: 20,645,991	N397S	probably benign	Het
Rbm15	T	C	3: 107,330,881	T734A	probably benign	Het
Rbm8a	G	T	3: 96,631,730		probably benign	Het
Rock2	T	C	12: 16,972,985	I1095T	probably benign	Het
Rxfp3	T	A	15: 11,036,303	T328S	probably damaging	Het
Sec31a	T	A	5: 100,386,195	K505N	possibly damaging	Het
Selenof	A	G	3: 144,596,881	*122W	probably null	Het
Sh3pxd2b	T	C	11: 32,381,441	M55T	possibly damaging	Het
Slc15a2	T	C	16: 36,754,481	D522G	probably benign	Het
Slc2a1	T	C	4: 119,136,306	F447L	probably damaging	Het
Slc45a2	T	A	15: 11,022,128	C319S	probably null	Het
Smad4	T	C	18: 73,640,262	D551G	probably benign	Het
Smarcc2	A	G	10: 128,482,793	Y648C	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Stab2	A	T	10: 86,885,718		probably null	Het
Tanc1	A	G	2: 59,785,387	D246G	probably damaging	Het
Tekt3	T	G	11: 63,087,198		probably null	Het
Them5	G	A	3: 94,346,260		probably null	Het
Tlr4	T	A	4: 66,839,480	F170Y	probably damaging	Het
Tmem214	T	G	5: 30,871,563	Y165*	probably null	Het
Tmem94	T	C	11: 115,796,145		probably null	Het
Tom1l1	A	G	11: 90,656,351	L301S	possibly damaging	Het
Trpm3	A	G	19: 22,982,712	E1237G	probably damaging	Het
Ube2d1	C	A	10: 71,256,693	C107F	probably damaging	Het
Ugt3a1	C	T	15: 9,306,244	R160*	probably null	Het
Vcan	G	A	13: 89,705,663	P393S	probably damaging	Het
Virma	T	C	4: 11,544,954	F1638L	probably damaging	Het
Vmn1r31	G	A	6: 58,472,058	T274I	probably damaging	Het
Xylt2	C	T	11: 94,668,209	S445N	probably damaging	Het
Zfp457	A	G	13: 67,296,311	F43L	possibly damaging	Het
Zfp879	T	A	11: 50,832,646	M455L	probably benign	Het

Other mutations in Man2c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Man2c1	APN	9	57141819	missense	probably benign
IGL01408:Man2c1	APN	9	57141600	missense	probably damaging	1.00
IGL01618:Man2c1	APN	9	57141556	unclassified	probably benign
IGL01750:Man2c1	APN	9	57140780	critical splice donor site	probably null
IGL01796:Man2c1	APN	9	57137960	missense	possibly damaging	0.52
IGL02661:Man2c1	APN	9	57137482	missense	probably damaging	1.00
IGL03166:Man2c1	APN	9	57139098	missense	probably damaging	1.00
IGL03176:Man2c1	APN	9	57140746	missense	probably benign	0.05
IGL03209:Man2c1	APN	9	57141830	missense	probably benign	0.00
R0014:Man2c1	UTSW	9	57139701	missense	probably benign	0.00
R0329:Man2c1	UTSW	9	57141183	missense	probably benign	0.40
R0432:Man2c1	UTSW	9	57135597	missense	probably damaging	1.00
R1448:Man2c1	UTSW	9	57135219	missense	probably benign	0.23
R1838:Man2c1	UTSW	9	57137337	missense	probably benign	0.07
R2511:Man2c1	UTSW	9	57141388	splice site	probably null
R3751:Man2c1	UTSW	9	57140774	missense	probably damaging	1.00
R3771:Man2c1	UTSW	9	57140377	unclassified	probably benign
R3772:Man2c1	UTSW	9	57140377	unclassified	probably benign
R4110:Man2c1	UTSW	9	57136771	missense	probably damaging	0.98
R4116:Man2c1	UTSW	9	57140305	critical splice donor site	probably null
R4167:Man2c1	UTSW	9	57138026	missense	probably benign	0.15
R4169:Man2c1	UTSW	9	57138026	missense	probably benign	0.15
R4170:Man2c1	UTSW	9	57138026	missense	probably benign	0.15
R4405:Man2c1	UTSW	9	57139083	missense	probably damaging	0.98
R4551:Man2c1	UTSW	9	57131161	missense	probably damaging	1.00
R4618:Man2c1	UTSW	9	57142155	unclassified	probably null
R4798:Man2c1	UTSW	9	57141185	nonsense	probably null
R4903:Man2c1	UTSW	9	57138956	missense	probably benign	0.08
R5030:Man2c1	UTSW	9	57140639	missense	probably benign	0.00
R5079:Man2c1	UTSW	9	57136716	missense	probably damaging	1.00
R5086:Man2c1	UTSW	9	57131640	missense	probably damaging	0.96
R6430:Man2c1	UTSW	9	57131233	missense	possibly damaging	0.91
R6695:Man2c1	UTSW	9	57141591	missense	probably benign	0.03
R6743:Man2c1	UTSW	9	57135565	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CTTTGCTGAGAACCCTTGAGAGACC -3'
(R):5'- ACGGAGCCCATGATCTAATGTCCC -3'

Sequencing Primer
(F):5'- CTTGAGAGACCAGCTAGAGCC -3'
(R):5'- GATCATATCGCAGGTTTCAGC -3'

Posted On

2014-04-24