Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02699:Mansc1'

304067

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: 0.091) question?

Stock #

IGL02699

Quality Score

Status

Chromosome

Chromosomal Location

134609207-134632488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134610354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 287 (T287A)

Ref Sequence

ENSEMBL: ENSMUSP00000038346 (fasta)

Gene Model

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

AlphaFold

Q9CR33

Predicted Effect

probably benign
Transcript: ENSMUST00000047443
AA Change: T287A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: T287A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,322,019	D198G	probably benign	Het
Casq1	T	C	1: 172,219,696		probably benign	Het
Cd109	T	A	9: 78,671,989		probably benign	Het
Col15a1	T	G	4: 47,284,471		probably benign	Het
Ctdp1	T	C	18: 80,450,185	D365G	probably benign	Het
Daam1	T	C	12: 71,988,943	F971L	probably damaging	Het
Dalrd3	T	A	9: 108,570,889		probably benign	Het
Dnaaf5	T	C	5: 139,153,350		probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo8	A	G	8: 56,590,188	T236A	possibly damaging	Het
Ighv1-12	C	A	12: 114,616,116	E29*	probably null	Het
Il17re	A	G	6: 113,468,919	D397G	probably damaging	Het
Ing5	A	G	1: 93,816,442	N157D	possibly damaging	Het
Ipo11	T	C	13: 106,889,397	E395G	possibly damaging	Het
Letm1	T	C	5: 33,745,148	E599G	possibly damaging	Het
Med1	T	C	11: 98,180,025	N131D	possibly damaging	Het
Olfr1085	A	T	2: 86,658,347	I37N	probably benign	Het
Olfr1337	G	T	4: 118,782,152	C144*	probably null	Het
Olfr1341	T	C	4: 118,710,198	S264P	probably benign	Het
Olfr769	T	G	10: 129,111,771	Y218S	probably benign	Het
Osm	T	C	11: 4,239,723	V169A	possibly damaging	Het
Phkg2	C	T	7: 127,582,550	A278V	probably benign	Het
Plod2	T	A	9: 92,607,142	M709K	probably damaging	Het
Pzp	A	T	6: 128,487,401		probably null	Het
Ric1	T	C	19: 29,522,557	L12P	possibly damaging	Het
Skor1	C	A	9: 63,140,046		probably benign	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Syncrip	A	G	9: 88,456,554		probably benign	Het
Tex2	T	C	11: 106,568,433	E57G	possibly damaging	Het
Tmc1	C	T	19: 20,832,350		probably null	Het
Tmem59	T	C	4: 107,192,538	M140T	probably benign	Het
Ttn	T	C	2: 76,944,089	T2158A	probably damaging	Het

Other mutations in Mansc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Mansc1	APN	6	134610806	missense	possibly damaging	0.88
IGL01141:Mansc1	APN	6	134621785	missense	probably benign	0.21
IGL01447:Mansc1	APN	6	134617326	missense	probably damaging	0.96
IGL01582:Mansc1	APN	6	134621873	missense	possibly damaging	0.95
IGL02121:Mansc1	APN	6	134621837	missense	probably damaging	1.00
IGL02214:Mansc1	APN	6	134610360	missense	probably benign	0.39
IGL02466:Mansc1	APN	6	134610851	missense	probably damaging	1.00
R0266:Mansc1	UTSW	6	134610707	missense	probably benign	0.08
R0730:Mansc1	UTSW	6	134617461	splice site	probably benign
R0849:Mansc1	UTSW	6	134610707	missense	probably benign	0.08
R2015:Mansc1	UTSW	6	134610311	missense	possibly damaging	0.77
R3874:Mansc1	UTSW	6	134610183	missense	possibly damaging	0.62
R4886:Mansc1	UTSW	6	134610662	missense	probably benign	0.01
R5864:Mansc1	UTSW	6	134610853	critical splice acceptor site	probably null
R5932:Mansc1	UTSW	6	134610515	missense	possibly damaging	0.69
R7233:Mansc1	UTSW	6	134621843	missense	probably damaging	0.98
R7576:Mansc1	UTSW	6	134610711	missense	possibly damaging	0.87
R7858:Mansc1	UTSW	6	134610414	missense	probably benign	0.23
R7981:Mansc1	UTSW	6	134610311	missense	possibly damaging	0.77
R8775:Mansc1	UTSW	6	134610668	missense	probably benign	0.10
R8775-TAIL:Mansc1	UTSW	6	134610668	missense	probably benign	0.10
R9130:Mansc1	UTSW	6	134609988	missense	probably damaging	1.00
R9761:Mansc1	UTSW	6	134610041	missense	probably damaging	1.00

Posted On

2015-04-16