Mutagenetix > Incidental Mutations

Incidental Mutation 'R0012:Chrna10'

8098

Institutional Source

Beutler Lab

Gene Symbol

Chrna10

Ensembl Gene

ENSMUSG00000066279

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 10

Synonyms

MMRRC Submission

038307-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R0012 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

102111266-102116828 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102115057 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 40 (N40S)

Ref Sequence

ENSEMBL: ENSMUSP00000081891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084830] [ENSMUST00000209809] [ENSMUST00000210211] [ENSMUST00000210682] [ENSMUST00000211408]

Predicted Effect

probably benign
Transcript: ENSMUST00000033300

SMART Domains

Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ART	39	269	2e-99	PFAM
low complexity region	288	313	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084830
AA Change: N40S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081891
Gene: ENSMUSG00000066279
AA Change: N40S

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
Pfam:Neur_chan_LBD	30	236	1.5e-67	PFAM
Pfam:Neur_chan_memb	243	384	9.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209809

Predicted Effect

probably benign
Transcript: ENSMUST00000210211

Predicted Effect

probably benign
Transcript: ENSMUST00000210682

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211408
AA Change: N40S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.0857

Coding Region Coverage

1x: 78.7%
3x: 69.0%
10x: 44.7%
20x: 26.0%

Validation Efficiency

91% (95/104)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in impaired synaptic function and integrity of the olivocochlear system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	A	G	5: 139,307,734		probably benign	Het
Bnip3	A	G	7: 138,898,672		probably benign	Het
Brwd1	A	C	16: 96,059,652	S311R	probably damaging	Het
C2cd3	G	A	7: 100,418,522	V871M	possibly damaging	Het
Chd2	G	T	7: 73,455,519	T192K	probably damaging	Het
Copb1	T	A	7: 114,237,408	K366N	probably damaging	Het
Dpysl4	T	G	7: 139,097,883	I412S	probably benign	Het
E130309D02Rik	A	G	5: 143,314,182	L137P	probably damaging	Het
Fat2	A	G	11: 55,262,871	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,621,994	F101S	probably damaging	Het
Gcnt3	T	C	9: 70,034,085	I400M	probably benign	Het
Gm2962	T	A	1: 170,925,339		probably benign	Het
Gsap	T	A	5: 21,226,229		probably benign	Het
Hipk1	A	G	3: 103,763,680	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,260,725	I17F	probably damaging	Het
Kif17	T	G	4: 138,293,748	S606A	probably damaging	Het
Lypd4	A	G	7: 24,865,332	L127P	probably damaging	Het
Lyst	A	G	13: 13,687,694	H2605R	probably benign	Het
Map3k4	A	G	17: 12,238,189	S1289P	probably damaging	Het
Mob1b	G	A	5: 88,756,084		probably benign	Het
Mthfd2l	A	T	5: 90,961,383	H224L	probably damaging	Het
Nectin2	T	C	7: 19,730,744		probably benign	Het
Rae1	T	A	2: 173,002,673	F4I	unknown	Het
Ralgapa2	A	G	2: 146,412,752	Y821H	probably benign	Het
Sharpin	G	T	15: 76,348,343	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,999,629	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,228,549	V1061A	probably benign	Het
Suclg1	A	G	6: 73,270,997	T234A	possibly damaging	Het
Tet2	T	C	3: 133,476,558	Y1215C	probably damaging	Het
Tjp1	A	G	7: 65,329,775		probably benign	Het
Tnpo3	T	C	6: 29,589,177	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,444,718	M464K	probably damaging	Het
Trpm1	A	G	7: 64,268,591	S560G	possibly damaging	Het
Unc80	T	C	1: 66,507,391	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,395,040		probably benign	Het
Zfp644	T	G	5: 106,635,043	E1155A	probably benign	Het

Other mutations in Chrna10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Chrna10	APN	7	102112408	nonsense	probably null
IGL02313:Chrna10	APN	7	102112029	unclassified	probably benign
IGL02814:Chrna10	APN	7	102112262	missense	probably benign	0.00
R0012:Chrna10	UTSW	7	102115057	missense	possibly damaging	0.71
R1464:Chrna10	UTSW	7	102114247	missense	probably damaging	1.00
R1464:Chrna10	UTSW	7	102114247	missense	probably damaging	1.00
R2567:Chrna10	UTSW	7	102112069	missense	probably benign	0.16
R3774:Chrna10	UTSW	7	102114328	missense	probably benign	0.00
R4707:Chrna10	UTSW	7	102113219	missense	possibly damaging	0.83
R4742:Chrna10	UTSW	7	102113137	missense	probably damaging	1.00
R4784:Chrna10	UTSW	7	102113219	missense	possibly damaging	0.83
R4785:Chrna10	UTSW	7	102113219	missense	possibly damaging	0.83
R5384:Chrna10	UTSW	7	102114353	missense	probably damaging	0.97
R6355:Chrna10	UTSW	7	102113085	critical splice donor site	probably null
R7215:Chrna10	UTSW	7	102112208	missense	possibly damaging	0.95
R7253:Chrna10	UTSW	7	102112086	missense	probably benign	0.00
R8368:Chrna10	UTSW	7	102115016	missense	probably benign
Z1177:Chrna10	UTSW	7	102113264	missense	probably benign	0.13
Z1177:Chrna10	UTSW	7	102114987	missense	possibly damaging	0.96

Posted On

2012-11-20