Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02214:Mansc1'

284801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mansc1

Ensembl Gene

ENSMUSG00000032718

Gene Name

MANSC domain containing 1

Synonyms

9130403P13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02214

Quality Score

Status

Chromosome

Chromosomal Location

134586170-134609451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134587323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 285 (V285M)

Ref Sequence

ENSEMBL: ENSMUSP00000038346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047443]

AlphaFold

Q9CR33

Predicted Effect

probably benign
Transcript: ENSMUST00000047443
AA Change: V285M

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: V285M

Domain	Start	End	E-Value	Type
MANEC	23	116	3.87e-44	SMART
low complexity region	219	231	N/A	INTRINSIC
low complexity region	260	271	N/A	INTRINSIC
transmembrane domain	370	392	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204630

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,736 (GRCm39)		probably benign	Het
A330008L17Rik	T	A	8: 100,148,390 (GRCm39)		noncoding transcript	Het
A930004D18Rik	A	G	2: 18,032,067 (GRCm39)	L17P	unknown	Het
Abca14	A	T	7: 119,893,398 (GRCm39)	M1283L	probably benign	Het
Adarb1	A	T	10: 77,158,135 (GRCm39)	V104E	probably damaging	Het
Ano1	T	A	7: 144,209,445 (GRCm39)	N252Y	possibly damaging	Het
Atp6v0a1	A	G	11: 100,930,666 (GRCm39)	S498G	probably benign	Het
Bdp1	A	G	13: 100,178,043 (GRCm39)	V1942A	probably benign	Het
Carf	T	A	1: 60,187,240 (GRCm39)	D579E	probably damaging	Het
Cltc	A	T	11: 86,623,412 (GRCm39)	S200R	probably benign	Het
Cpeb1	T	C	7: 81,021,805 (GRCm39)	S113G	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ehd3	T	A	17: 74,127,541 (GRCm39)	L158H	probably damaging	Het
Etfa	C	A	9: 55,372,095 (GRCm39)	G289W	probably damaging	Het
Fndc3c1	G	A	X: 105,469,435 (GRCm39)	T1029I	probably benign	Het
Gipr	C	A	7: 18,891,471 (GRCm39)	G402V	possibly damaging	Het
Hacd1	C	T	2: 14,031,758 (GRCm39)	V242M	probably damaging	Het
Hecw1	A	G	13: 14,474,978 (GRCm39)	L520P	probably damaging	Het
Ibtk	A	T	9: 85,596,232 (GRCm39)		probably benign	Het
Igkv16-104	A	C	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Kcnh8	A	T	17: 53,184,939 (GRCm39)	Y407F	possibly damaging	Het
Mindy4	A	G	6: 55,193,636 (GRCm39)	R110G	possibly damaging	Het
Morn1	C	T	4: 155,176,776 (GRCm39)	H100Y	probably damaging	Het
Naip6	A	T	13: 100,452,567 (GRCm39)	S165T	probably damaging	Het
Or13a24	A	T	7: 140,154,470 (GRCm39)	R135*	probably null	Het
Or5aq1	T	G	2: 86,965,849 (GRCm39)	K272T	probably damaging	Het
Prx	G	T	7: 27,218,337 (GRCm39)	R946M	probably damaging	Het
Ptchd1	A	G	X: 154,356,706 (GRCm39)	V833A	possibly damaging	Het
Rgl2	A	G	17: 34,154,163 (GRCm39)	D481G	probably benign	Het
Serpinb3a	A	G	1: 106,976,218 (GRCm39)		probably null	Het
Shtn1	T	C	19: 58,988,318 (GRCm39)		probably benign	Het
Slco1a7	T	A	6: 141,668,911 (GRCm39)	D507V	possibly damaging	Het
Sult1b1	C	T	5: 87,682,949 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,923,106 (GRCm39)		probably benign	Het
Trappc9	C	T	15: 72,884,731 (GRCm39)	W416*	probably null	Het
Ubr4	T	C	4: 139,155,894 (GRCm39)	Y2240H	possibly damaging	Het
Ubr4	G	A	4: 139,189,138 (GRCm39)		probably null	Het
Vmn2r76	A	C	7: 85,879,138 (GRCm39)	F387L	probably benign	Het
Vps8	G	A	16: 21,336,035 (GRCm39)	C729Y	probably damaging	Het

Other mutations in Mansc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Mansc1	APN	6	134,587,769 (GRCm39)	missense	possibly damaging	0.88
IGL01141:Mansc1	APN	6	134,598,748 (GRCm39)	missense	probably benign	0.21
IGL01447:Mansc1	APN	6	134,594,289 (GRCm39)	missense	probably damaging	0.96
IGL01582:Mansc1	APN	6	134,598,836 (GRCm39)	missense	possibly damaging	0.95
IGL02121:Mansc1	APN	6	134,598,800 (GRCm39)	missense	probably damaging	1.00
IGL02466:Mansc1	APN	6	134,587,814 (GRCm39)	missense	probably damaging	1.00
IGL02699:Mansc1	APN	6	134,587,317 (GRCm39)	missense	probably benign	0.34
R0266:Mansc1	UTSW	6	134,587,670 (GRCm39)	missense	probably benign	0.08
R0730:Mansc1	UTSW	6	134,594,424 (GRCm39)	splice site	probably benign
R0849:Mansc1	UTSW	6	134,587,670 (GRCm39)	missense	probably benign	0.08
R2015:Mansc1	UTSW	6	134,587,274 (GRCm39)	missense	possibly damaging	0.77
R3874:Mansc1	UTSW	6	134,587,146 (GRCm39)	missense	possibly damaging	0.62
R4886:Mansc1	UTSW	6	134,587,625 (GRCm39)	missense	probably benign	0.01
R5864:Mansc1	UTSW	6	134,587,816 (GRCm39)	critical splice acceptor site	probably null
R5932:Mansc1	UTSW	6	134,587,478 (GRCm39)	missense	possibly damaging	0.69
R7233:Mansc1	UTSW	6	134,598,806 (GRCm39)	missense	probably damaging	0.98
R7576:Mansc1	UTSW	6	134,587,674 (GRCm39)	missense	possibly damaging	0.87
R7858:Mansc1	UTSW	6	134,587,377 (GRCm39)	missense	probably benign	0.23
R7981:Mansc1	UTSW	6	134,587,274 (GRCm39)	missense	possibly damaging	0.77
R8775:Mansc1	UTSW	6	134,587,631 (GRCm39)	missense	probably benign	0.10
R8775-TAIL:Mansc1	UTSW	6	134,587,631 (GRCm39)	missense	probably benign	0.10
R9130:Mansc1	UTSW	6	134,586,951 (GRCm39)	missense	probably damaging	1.00
R9761:Mansc1	UTSW	6	134,587,004 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16