Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02466:Mansc1'

294602

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 #

IGL02466

Quality Score

Status

Chromosome

Chromosomal Location

134586170-134609451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134587814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 121 (D121V)

Ref Sequence

ENSEMBL: ENSMUSP00000038346 (fasta)

Gene Model

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

AlphaFold

Q9CR33

Predicted Effect

probably damaging
Transcript: ENSMUST00000047443
AA Change: D121V

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

SMART Domains

Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: D121V

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,247,527 (GRCm39)	F2425L	probably benign	Het
Adgre4	A	T	17: 56,121,188 (GRCm39)	Y418F	probably benign	Het
Adra1a	G	T	14: 66,875,322 (GRCm39)	C99F	probably damaging	Het
Aox3	C	A	1: 58,197,431 (GRCm39)	H592Q	probably benign	Het
Cacna1f	A	G	X: 7,495,644 (GRCm39)		probably null	Het
Cacna2d2	T	A	9: 107,342,753 (GRCm39)	I100N	probably damaging	Het
Cblif	A	T	19: 11,729,596 (GRCm39)	N185I	probably damaging	Het
Ccr9	T	A	9: 123,608,911 (GRCm39)	C198S	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col4a3	T	A	1: 82,647,913 (GRCm39)	C475S	unknown	Het
Csnk2a2	T	C	8: 96,203,859 (GRCm39)	D100G	possibly damaging	Het
Cstf2t	G	A	19: 31,061,277 (GRCm39)	G271E	possibly damaging	Het
Fbxw22	T	C	9: 109,214,160 (GRCm39)	R219G	probably damaging	Het
Homez	A	G	14: 55,095,559 (GRCm39)	F50L	probably damaging	Het
Hspa4l	C	T	3: 40,707,657 (GRCm39)	Q81*	probably null	Het
Ifi202b	T	C	1: 173,799,875 (GRCm39)	D202G	possibly damaging	Het
Inava	T	C	1: 136,144,173 (GRCm39)		probably null	Het
Or13a24	A	G	7: 140,154,684 (GRCm39)	Y206C	probably benign	Het
Or4a27	T	G	2: 88,559,739 (GRCm39)	D68A	probably damaging	Het
Or51h5	T	A	7: 102,577,723 (GRCm39)	V296E	possibly damaging	Het
P2rx1	A	T	11: 72,900,410 (GRCm39)		probably null	Het
Phactr4	A	G	4: 132,104,483 (GRCm39)		probably benign	Het
Pus10	C	T	11: 23,675,574 (GRCm39)	T482I	probably damaging	Het
Scyl2	G	T	10: 89,488,871 (GRCm39)	Y206*	probably null	Het
Sell	G	A	1: 163,896,632 (GRCm39)		probably null	Het
Slfn10-ps	C	T	11: 82,921,090 (GRCm39)		noncoding transcript	Het
Ssh2	T	C	11: 77,307,233 (GRCm39)		probably benign	Het
Tas2r117	A	G	6: 132,779,963 (GRCm39)	M34V	probably benign	Het
Vmn2r103	A	T	17: 19,993,631 (GRCm39)	T3S	probably benign	Het
Vmn2r73	A	T	7: 85,522,084 (GRCm39)	I85K	probably damaging	Het
Vps13b	T	C	15: 35,770,887 (GRCm39)	V2110A	possibly damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp592	G	A	7: 80,673,746 (GRCm39)	G237R	probably damaging	Het
Zkscan7	A	G	9: 122,717,950 (GRCm39)	E115G	probably damaging	Het
Zranb3	G	A	1: 127,943,829 (GRCm39)	T306M	probably benign	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
IGL02214:Mansc1	APN	6	134,587,323 (GRCm39)	missense	probably benign	0.39
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