Mutagenetix > Incidental Mutation

Incidental Mutation 'R4290:Man1c1'

322993

Institutional Source

Beutler Lab

Gene Symbol

Man1c1

Ensembl Gene

ENSMUSG00000037306

Gene Name

mannosidase, alpha, class 1C, member 1

Synonyms

MMRRC Submission

041655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R4290 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

134289001-134431601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134291096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 600 (D600V)

Ref Sequence

ENSEMBL: ENSMUSP00000050979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038628] [ENSMUST00000054096]

AlphaFold

Q6NXK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000038628
AA Change: D600V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037949
Gene: ENSMUSG00000037306
AA Change: D600V

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
low complexity region	80	91	N/A	INTRINSIC
Pfam:Glyco_hydro_47	176	612	9.9e-147	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000054096
AA Change: D600V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050979
Gene: ENSMUSG00000037306
AA Change: D600V

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
low complexity region	80	91	N/A	INTRINSIC
Pfam:Glyco_hydro_47	176	612	1.1e-147	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185007

Meta Mutation Damage Score

0.2454

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,539,738 (GRCm39)	N1545S	probably benign	Het
Arid1b	C	A	17: 5,090,938 (GRCm39)	S546R	probably damaging	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Auts2	A	G	5: 131,503,809 (GRCm39)	S225P	probably damaging	Het
Bclaf1	A	G	10: 20,199,524 (GRCm39)	Q20R	probably damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cfap221	A	G	1: 119,858,650 (GRCm39)	S728P	probably benign	Het
Chrna9	A	G	5: 66,134,481 (GRCm39)	K444R	probably benign	Het
Cox10	A	T	11: 63,855,081 (GRCm39)	V400E	probably benign	Het
Dact2	C	T	17: 14,416,833 (GRCm39)	E456K	probably benign	Het
Ddr2	A	G	1: 169,818,178 (GRCm39)	V443A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
En1	C	A	1: 120,531,486 (GRCm39)	A242E	unknown	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm6124	A	T	7: 38,872,195 (GRCm39)		noncoding transcript	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,190,583 (GRCm39)	M48L	possibly damaging	Het
Hepacam2	T	A	6: 3,487,237 (GRCm39)	Y40F	probably benign	Het
Ift80	A	G	3: 68,871,023 (GRCm39)	I191T	probably damaging	Het
Il19	T	A	1: 130,862,750 (GRCm39)	T58S	possibly damaging	Het
Itga2	G	A	13: 115,002,709 (GRCm39)	R594C	probably damaging	Het
Itga5	C	T	15: 103,260,684 (GRCm39)		probably null	Het
Kcna1	T	C	6: 126,618,838 (GRCm39)	D494G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kmt2b	A	T	7: 30,281,261 (GRCm39)		probably null	Het
Kmt5b	T	C	19: 3,852,193 (GRCm39)	Y125H	possibly damaging	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,217 (GRCm39)	V203A	probably damaging	Het
Mettl5	T	C	2: 69,711,176 (GRCm39)	N114S	probably benign	Het
Mindy2	T	A	9: 70,538,376 (GRCm39)	R320W	probably damaging	Het
Nrip1	A	G	16: 76,088,876 (GRCm39)	S894P	probably benign	Het
Nup210l	A	T	3: 90,114,633 (GRCm39)	H1736L	probably benign	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2aj4	A	T	16: 19,384,994 (GRCm39)	M213K	possibly damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or2z9	A	G	8: 72,853,612 (GRCm39)	T3A	probably benign	Het
Or4e1	T	C	14: 52,701,442 (GRCm39)	N8S	probably damaging	Het
Or6b6	A	C	7: 106,570,918 (GRCm39)	L211R	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Ppp4c	A	G	7: 126,391,231 (GRCm39)		probably null	Het
Rps15a-ps1	A	G	10: 106,028,496 (GRCm39)		noncoding transcript	Het
Rps27a	A	G	11: 29,495,933 (GRCm39)	Y140H	probably benign	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Ttc19	A	G	11: 62,176,753 (GRCm39)		probably null	Het
Ttf2	T	C	3: 100,870,077 (GRCm39)	D332G	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vcan	A	G	13: 89,873,605 (GRCm39)	V83A	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Xndc1	T	A	7: 101,730,694 (GRCm39)	L288M	possibly damaging	Het
Zfa-ps	A	T	10: 52,419,807 (GRCm39)		noncoding transcript	Het

Other mutations in Man1c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Man1c1	APN	4	134,291,843 (GRCm39)	missense	probably damaging	1.00
IGL02237:Man1c1	APN	4	134,311,609 (GRCm39)	critical splice donor site	probably null
R0201:Man1c1	UTSW	4	134,367,709 (GRCm39)	splice site	probably null
R0390:Man1c1	UTSW	4	134,305,626 (GRCm39)	missense	probably damaging	1.00
R0526:Man1c1	UTSW	4	134,296,379 (GRCm39)	nonsense	probably null
R1108:Man1c1	UTSW	4	134,291,924 (GRCm39)	missense	probably damaging	1.00
R1518:Man1c1	UTSW	4	134,308,100 (GRCm39)	missense	probably benign	0.01
R1756:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R1866:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R1914:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R1915:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R2171:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R2172:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R2937:Man1c1	UTSW	4	134,430,263 (GRCm39)	missense	possibly damaging	0.72
R2938:Man1c1	UTSW	4	134,430,263 (GRCm39)	missense	possibly damaging	0.72
R2971:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R3806:Man1c1	UTSW	4	134,430,662 (GRCm39)	missense	probably damaging	1.00
R3977:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R3979:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R4037:Man1c1	UTSW	4	134,320,650 (GRCm39)	missense	probably damaging	1.00
R4065:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R4066:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R4067:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R4209:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R4210:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R4211:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R4431:Man1c1	UTSW	4	134,430,329 (GRCm39)	missense	probably damaging	1.00
R4694:Man1c1	UTSW	4	134,430,500 (GRCm39)	missense	probably benign	0.27
R4766:Man1c1	UTSW	4	134,430,749 (GRCm39)	missense	probably damaging	1.00
R5226:Man1c1	UTSW	4	134,305,680 (GRCm39)	missense	probably damaging	1.00
R5637:Man1c1	UTSW	4	134,318,735 (GRCm39)	missense	probably damaging	1.00
R5677:Man1c1	UTSW	4	134,296,371 (GRCm39)	missense	probably damaging	1.00
R5939:Man1c1	UTSW	4	134,293,147 (GRCm39)	missense	probably damaging	0.99
R7251:Man1c1	UTSW	4	134,308,147 (GRCm39)	missense	probably damaging	1.00
R7577:Man1c1	UTSW	4	134,291,814 (GRCm39)	critical splice donor site	probably null
R8551:Man1c1	UTSW	4	134,430,326 (GRCm39)	nonsense	probably null
R8745:Man1c1	UTSW	4	134,303,295 (GRCm39)	missense	probably damaging	0.96
R9116:Man1c1	UTSW	4	134,311,705 (GRCm39)	missense	possibly damaging	0.91
R9272:Man1c1	UTSW	4	134,291,118 (GRCm39)	missense	probably damaging	1.00
R9406:Man1c1	UTSW	4	134,303,318 (GRCm39)	missense	probably damaging	1.00
X0019:Man1c1	UTSW	4	134,303,318 (GRCm39)	missense	probably damaging	1.00
X0062:Man1c1	UTSW	4	134,430,683 (GRCm39)	missense	possibly damaging	0.74
X0063:Man1c1	UTSW	4	134,303,288 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAAAGAAGTCGCCTGTCC -3'
(R):5'- CTTCTGACCCTACAGCTCAG -3'

Sequencing Primer
(F):5'- ACACATCCGTCCAGGGTCTG -3'
(R):5'- ACAGCTCAGCATCCCTGTG -3'

Posted On

2015-06-20