Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01447:Mansc1'

84472

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: 0.060) question?

Stock #

IGL01447

Quality Score

Status

Chromosome

Chromosomal Location

134586170-134609451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134594289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 118 (L118F)

Ref Sequence

ENSEMBL: ENSMUSP00000038346 (fasta)

Gene Model

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

AlphaFold

Q9CR33

Predicted Effect

probably damaging
Transcript: ENSMUST00000047443
AA Change: L118F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: L118F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	T	G	2: 22,743,194 (GRCm39)	I342S	probably damaging	Het
Armh4	A	T	14: 50,005,923 (GRCm39)	S591T	probably damaging	Het
Atp6v1e1	T	C	6: 120,772,654 (GRCm39)		probably benign	Het
Brwd1	A	T	16: 95,848,579 (GRCm39)	C533*	probably null	Het
Cacna2d4	A	G	6: 119,219,865 (GRCm39)	S212G	probably damaging	Het
Ccn5	A	G	2: 163,670,942 (GRCm39)	R150G	probably damaging	Het
Cit	T	C	5: 116,011,902 (GRCm39)		probably benign	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cmklr1	T	C	5: 113,752,282 (GRCm39)	T240A	probably benign	Het
D630003M21Rik	T	C	2: 158,059,276 (GRCm39)	D208G	probably benign	Het
Egr3	C	A	14: 70,316,732 (GRCm39)	P143Q	probably damaging	Het
Fbxw18	T	A	9: 109,530,675 (GRCm39)	S41C	probably damaging	Het
Focad	T	A	4: 88,244,465 (GRCm39)	I815N	unknown	Het
Heatr5b	T	C	17: 79,137,026 (GRCm39)	T165A	probably benign	Het
Iqub	G	T	6: 24,505,627 (GRCm39)	L94I	probably benign	Het
Lrrc32	T	C	7: 98,147,583 (GRCm39)	L121P	probably damaging	Het
Mtor	A	G	4: 148,615,214 (GRCm39)	H1693R	possibly damaging	Het
Muc5b	A	G	7: 141,416,831 (GRCm39)	Q3259R	probably benign	Het
Nmnat2	A	G	1: 152,988,189 (GRCm39)	S273G	possibly damaging	Het
Npr2	T	C	4: 43,640,554 (GRCm39)	C336R	possibly damaging	Het
Or10al6	C	T	17: 38,083,122 (GRCm39)	L193F	probably damaging	Het
Or1f19	A	G	16: 3,410,848 (GRCm39)	N196S	possibly damaging	Het
Or1j11	A	T	2: 36,311,466 (GRCm39)	I19F	probably damaging	Het
Or56b1b	A	G	7: 108,164,216 (GRCm39)	V262A	possibly damaging	Het
Or5aq1	A	T	2: 86,966,343 (GRCm39)	Y107*	probably null	Het
Or5d36	T	C	2: 87,901,468 (GRCm39)	N86S	possibly damaging	Het
Rad54l2	C	T	9: 106,579,971 (GRCm39)	A967T	probably damaging	Het
Rspo1	T	C	4: 124,898,829 (GRCm39)	V50A	possibly damaging	Het
Sar1b	C	T	11: 51,682,274 (GRCm39)		probably benign	Het
Scamp1	C	T	13: 94,340,530 (GRCm39)	A280T	probably damaging	Het
Spcs2	A	G	7: 99,488,911 (GRCm39)	I251T	probably benign	Het
Sspo	G	T	6: 48,441,600 (GRCm39)		probably null	Het
Tpm2	T	A	4: 43,518,251 (GRCm39)	K251*	probably null	Het
Ttn	A	G	2: 76,571,250 (GRCm39)	S26548P	probably damaging	Het
Ugcg	T	G	4: 59,213,865 (GRCm39)	V149G	possibly damaging	Het
Unc79	T	A	12: 103,045,177 (GRCm39)	N784K	probably damaging	Het
Vit	A	G	17: 78,932,633 (GRCm39)	D580G	probably damaging	Het
Vmn1r83	T	C	7: 12,055,424 (GRCm39)	K211R	probably benign	Het
Zbtb3	A	G	19: 8,781,680 (GRCm39)	Y431C	probably damaging	Het
Zfp608	T	C	18: 55,032,083 (GRCm39)	D619G	possibly 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
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
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

2013-11-11