Mutagenetix > Incidental Mutation

Incidental Mutation 'R0849:Mansc1'

77064

Institutional Source

Beutler Lab

Gene Symbol

Mansc1

Ensembl Gene

ENSMUSG00000032718

Gene Name

MANSC domain containing 1

Synonyms

9130403P13Rik

MMRRC Submission

039028-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0849 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134586170-134609451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134587670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 169 (D169G)

Ref Sequence

ENSEMBL: ENSMUSP00000038346 (fasta)

Gene Model

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

AlphaFold

Q9CR33

Predicted Effect

probably benign
Transcript: ENSMUST00000047443
AA Change: D169G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: D169G

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

Meta Mutation Damage Score

0.4095

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.5%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	T	C	12: 52,566,406 (GRCm39)	F1126L	probably benign	Het
Arhgef11	G	T	3: 87,643,203 (GRCm39)	A1472S	probably benign	Het
Armc9	G	A	1: 86,184,992 (GRCm39)	R681K	probably benign	Het
Atxn2	T	A	5: 121,885,484 (GRCm39)		probably null	Het
B3gnt6	C	A	7: 97,843,950 (GRCm39)	L3F	probably benign	Het
Cand2	A	G	6: 115,769,352 (GRCm39)	T721A	probably damaging	Het
Cntn2	A	T	1: 132,450,124 (GRCm39)	M590K	probably benign	Het
Cntn4	A	T	6: 106,644,418 (GRCm39)	D622V	probably damaging	Het
Des	T	G	1: 75,337,272 (GRCm39)	S71A	probably benign	Het
Dnah5	C	A	15: 28,263,745 (GRCm39)	R827S	probably damaging	Het
Dstn	G	A	2: 143,780,455 (GRCm39)	G52S	probably benign	Het
Eln	T	A	5: 134,736,835 (GRCm39)	R704*	probably null	Het
Fezf2	T	A	14: 12,342,607 (GRCm38)	K419N	probably damaging	Het
Gm2381	G	A	7: 42,469,372 (GRCm39)	Q251*	probably null	Het
Grin3a	G	A	4: 49,665,501 (GRCm39)	R1045*	probably null	Het
Herc2	T	A	7: 55,856,326 (GRCm39)	H3921Q	probably damaging	Het
Hs3st2	A	G	7: 121,100,255 (GRCm39)	E367G	possibly damaging	Het
Hydin	G	A	8: 111,325,616 (GRCm39)	R4675H	probably damaging	Het
Inhca	A	C	9: 103,140,256 (GRCm39)	Y488D	possibly damaging	Het
Irf2bp1	T	C	7: 18,738,659 (GRCm39)	S100P	possibly damaging	Het
Itga10	A	G	3: 96,559,846 (GRCm39)	I500M	possibly damaging	Het
Kcnt2	T	C	1: 140,435,500 (GRCm39)	V496A	probably damaging	Het
Mdn1	T	A	4: 32,741,835 (GRCm39)	S3869T	probably damaging	Het
Mrgprb4	G	A	7: 47,848,868 (GRCm39)	T20I	probably benign	Het
Nek4	A	G	14: 30,679,253 (GRCm39)	E198G	probably damaging	Het
Or12e8	G	T	2: 87,188,609 (GRCm39)	V274L	probably benign	Het
Or2y10	G	A	11: 49,455,129 (GRCm39)	C127Y	probably damaging	Het
Or5w11	C	A	2: 87,459,626 (GRCm39)	T273K	possibly damaging	Het
Ppfia4	A	T	1: 134,247,110 (GRCm39)	F537I	probably benign	Het
Rarb	A	G	14: 16,434,293 (GRCm38)	V295A	probably damaging	Het
Ryr1	A	G	7: 28,740,104 (GRCm39)	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,511,698 (GRCm39)	N370S	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Sv2c	C	T	13: 96,126,319 (GRCm39)	G311D	probably damaging	Het
Tas2r109	T	C	6: 132,957,856 (GRCm39)	I25V	probably benign	Het
Tbcel	A	C	9: 42,348,453 (GRCm39)	I305S	probably damaging	Het
Tmem35b	A	G	4: 127,019,990 (GRCm39)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Tmtc4	A	G	14: 123,182,966 (GRCm39)	I244T	possibly damaging	Het
Usp9y	C	A	Y: 1,394,002 (GRCm39)	C576F	probably damaging	Het
Vcan	A	T	13: 89,853,072 (GRCm39)	N629K	possibly damaging	Het
Vmn2r22	T	C	6: 123,614,363 (GRCm39)	Y409C	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,674,142 (GRCm39)	Y400C	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGCCTCCTTGAAAGGGCATTG -3'
(R):5'- AGGTATCGAGTCTGGGGACATAGC -3'

Sequencing Primer
(F):5'- AAGCTGCCTGATGTGTAACC -3'
(R):5'- CAGCGCTAATTCATCACTCC -3'

Posted On

2013-10-16