Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Chrna10'

287920

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrna10

Ensembl Gene

ENSMUSG00000066279

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 10

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

101760473-101766035 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 101761236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147577 (fasta)

Gene Model

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

AlphaFold

B2RX82

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

probably benign
Transcript: ENSMUST00000084830

SMART Domains

Protein: ENSMUSP00000081891
Gene: ENSMUSG00000066279

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: ENSMUST00000211408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211553

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,653,571 (GRCm39)	N136K	probably damaging	Het
Aph1b	A	T	9: 66,697,955 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,583,718 (GRCm39)	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,857,160 (GRCm39)	N400S	probably damaging	Het
Brca2	C	A	5: 150,462,126 (GRCm39)	S630Y	probably damaging	Het
Chd6	T	A	2: 160,807,595 (GRCm39)	E1873V	probably damaging	Het
Col6a3	A	G	1: 90,739,328 (GRCm39)	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,639,770 (GRCm39)	N264S	probably damaging	Het
Cyria	A	G	12: 12,414,752 (GRCm39)	T248A	possibly damaging	Het
Dgkg	A	G	16: 22,388,980 (GRCm39)		probably benign	Het
Dpysl2	T	G	14: 67,061,839 (GRCm39)	M256L	probably benign	Het
Dsp	G	T	13: 38,380,499 (GRCm39)	E1816*	probably null	Het
Fam13b	T	C	18: 34,587,709 (GRCm39)	K530E	probably damaging	Het
Fastk	T	C	5: 24,648,090 (GRCm39)	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,166,420 (GRCm39)	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,669,718 (GRCm39)	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,343,617 (GRCm39)	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,235,700 (GRCm39)	T167A	probably benign	Het
Igsf10	A	G	3: 59,238,111 (GRCm39)	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,865 (GRCm39)		probably null	Het
Krt31	A	G	11: 99,939,222 (GRCm39)	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,493,070 (GRCm39)		probably benign	Het
Mfn2	T	A	4: 147,969,947 (GRCm39)	I375F	probably damaging	Het
Mfrp	A	T	9: 44,014,171 (GRCm39)	I180F	probably damaging	Het
Msh3	T	C	13: 92,485,820 (GRCm39)	E168G	possibly damaging	Het
Naa16	A	T	14: 79,622,108 (GRCm39)	V77D	probably damaging	Het
Nav2	T	C	7: 49,208,521 (GRCm39)	S1570P	probably damaging	Het
Niban3	A	G	8: 72,055,504 (GRCm39)	R305G	possibly damaging	Het
Numa1	C	T	7: 101,649,439 (GRCm39)	R1057*	probably null	Het
Nup210l	G	A	3: 90,030,099 (GRCm39)	A271T	probably damaging	Het
Ogdh	T	C	11: 6,305,400 (GRCm39)	V965A	probably damaging	Het
Or10h28	C	A	17: 33,488,639 (GRCm39)	Q314K	probably benign	Het
Or4m1	A	T	14: 50,557,473 (GRCm39)	V273E	probably damaging	Het
Or6c219	A	G	10: 129,781,772 (GRCm39)	L53P	probably damaging	Het
Or7g21	A	T	9: 19,032,671 (GRCm39)	N140I	probably damaging	Het
Or8b51	T	A	9: 38,569,362 (GRCm39)	I109F	probably damaging	Het
Pdp2	A	T	8: 105,321,531 (GRCm39)	Q460L	probably benign	Het
Pex5l	T	C	3: 33,047,141 (GRCm39)	T270A	probably benign	Het
Pkp4	C	T	2: 59,140,598 (GRCm39)	Q435*	probably null	Het
Prss32	G	A	17: 24,075,096 (GRCm39)	V149M	probably benign	Het
Riox2	C	A	16: 59,309,780 (GRCm39)	P378Q	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,781,521 (GRCm39)	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,652,321 (GRCm39)	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,894,387 (GRCm39)	G54*	probably null	Het
Slc24a5	C	T	2: 124,927,567 (GRCm39)		probably benign	Het
Tex101	C	T	7: 24,367,750 (GRCm39)	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,501,956 (GRCm39)	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,492,388 (GRCm39)	E382G	probably damaging	Het
Uggt1	A	T	1: 36,223,565 (GRCm39)	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,214,376 (GRCm39)	I259V	probably damaging	Het
Xpo1	T	A	11: 23,227,065 (GRCm39)	N131K	probably damaging	Het
Zfp579	C	T	7: 4,997,432 (GRCm39)	V160M	probably benign	Het
Zfp697	A	G	3: 98,332,766 (GRCm39)	D64G	probably benign	Het
Zfp974	T	C	7: 27,611,678 (GRCm39)	T16A	possibly damaging	Het

Other mutations in Chrna10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Chrna10	APN	7	101,761,615 (GRCm39)	nonsense	probably null
IGL02814:Chrna10	APN	7	101,761,469 (GRCm39)	missense	probably benign	0.00
R0012:Chrna10	UTSW	7	101,764,264 (GRCm39)	missense	possibly damaging	0.71
R0012:Chrna10	UTSW	7	101,764,264 (GRCm39)	missense	possibly damaging	0.71
R1464:Chrna10	UTSW	7	101,763,454 (GRCm39)	missense	probably damaging	1.00
R1464:Chrna10	UTSW	7	101,763,454 (GRCm39)	missense	probably damaging	1.00
R2567:Chrna10	UTSW	7	101,761,276 (GRCm39)	missense	probably benign	0.16
R3774:Chrna10	UTSW	7	101,763,535 (GRCm39)	missense	probably benign	0.00
R4707:Chrna10	UTSW	7	101,762,426 (GRCm39)	missense	possibly damaging	0.83
R4742:Chrna10	UTSW	7	101,762,344 (GRCm39)	missense	probably damaging	1.00
R4784:Chrna10	UTSW	7	101,762,426 (GRCm39)	missense	possibly damaging	0.83
R4785:Chrna10	UTSW	7	101,762,426 (GRCm39)	missense	possibly damaging	0.83
R5384:Chrna10	UTSW	7	101,763,560 (GRCm39)	missense	probably damaging	0.97
R6355:Chrna10	UTSW	7	101,762,292 (GRCm39)	critical splice donor site	probably null
R7215:Chrna10	UTSW	7	101,761,415 (GRCm39)	missense	possibly damaging	0.95
R7253:Chrna10	UTSW	7	101,761,293 (GRCm39)	missense	probably benign	0.00
R8368:Chrna10	UTSW	7	101,764,223 (GRCm39)	missense	probably benign
R9489:Chrna10	UTSW	7	101,762,801 (GRCm39)	missense	probably benign	0.00
R9660:Chrna10	UTSW	7	101,761,416 (GRCm39)	missense	probably benign	0.00
Z1177:Chrna10	UTSW	7	101,764,194 (GRCm39)	missense	possibly damaging	0.96
Z1177:Chrna10	UTSW	7	101,762,471 (GRCm39)	missense	probably benign	0.13

Posted On

2015-04-16