Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01330:Muc16'

74483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Muc16

Ensembl Gene

ENSMUSG00000109564

Gene Name

mucin 16

Synonyms

1110008I14Rik, LOC385009

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

IGL01330

Quality Score

Status

Chromosome

Chromosomal Location

18495455-18674530 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18508507 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 8347 (A8347V)

Ref Sequence

ENSEMBL: ENSMUSP00000147104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034653] [ENSMUST00000208663]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034653
AA Change: A127V

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034653
Gene: ENSMUSG00000109564
AA Change: A127V

Domain	Start	End	E-Value	Type
Pfam:SEA	71	174	9.6e-30	PFAM
transmembrane domain	205	227	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000207857
AA Change: A2434V

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208663
AA Change: A8347V

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,920,951	E245G	possibly damaging	Het
Acap2	T	C	16: 31,154,677	I43V	probably damaging	Het
Acot11	T	C	4: 106,771,484	T36A	probably benign	Het
Bsn	A	G	9: 108,110,913		probably benign	Het
Capza2	T	C	6: 17,654,171		probably null	Het
Cerkl	A	G	2: 79,368,781	I155T	possibly damaging	Het
Dclre1b	T	C	3: 103,803,126	T490A	probably benign	Het
Efcab6	G	A	15: 84,044,300	S31L	probably benign	Het
Faim	T	A	9: 98,992,535	M67K	probably damaging	Het
Frem2	T	G	3: 53,655,241	Q615P	possibly damaging	Het
Fut9	A	G	4: 25,619,791	V341A	possibly damaging	Het
Grhpr	T	C	4: 44,986,375	F142L	probably benign	Het
Kif14	T	C	1: 136,476,374	V532A	probably damaging	Het
Klk1b9	T	A	7: 43,978,443	L55*	probably null	Het
Kmt2e	C	A	5: 23,497,948	P1042Q	possibly damaging	Het
Mpped1	T	A	15: 83,800,119	I114N	probably damaging	Het
Mtap	C	A	4: 89,171,223	T148K	probably damaging	Het
Nhs	A	T	X: 161,841,453	S967T	probably damaging	Het
Npas3	A	G	12: 54,048,819	Y344C	probably damaging	Het
Olfr1431	T	C	19: 12,210,040	V158A	possibly damaging	Het
Olfr635	A	T	7: 103,980,142		probably benign	Het
Olfr876	T	A	9: 37,804,220	F103Y	probably damaging	Het
Osmr	A	G	15: 6,842,028	Y303H	probably damaging	Het
Pcdhb8	A	T	18: 37,357,578	I770F	probably benign	Het
Pde4a	C	T	9: 21,192,438		probably benign	Het
Prkacb	T	G	3: 146,751,511	N79T	probably damaging	Het
Psd3	A	C	8: 67,697,178	Y1222D	probably damaging	Het
Rrbp1	T	A	2: 143,968,618	E847D	possibly damaging	Het
Sbno1	A	T	5: 124,391,979	D912E	probably damaging	Het
Sgsm3	T	A	15: 81,010,852		probably benign	Het
Shcbp1	T	C	8: 4,736,372	T577A	probably benign	Het
Siglec1	A	T	2: 131,075,005	L1110*	probably null	Het
Siglec1	A	T	2: 131,083,536	V335D	probably damaging	Het
Slc4a11	A	G	2: 130,687,682	I335T	probably benign	Het
Smchd1	A	C	17: 71,436,788	S461A	probably benign	Het
Spata16	C	T	3: 26,914,715	P415S	probably damaging	Het
Tdrd12	G	A	7: 35,505,034	S217L	possibly damaging	Het
Tmem156	C	T	5: 65,080,182	R45H	probably benign	Het
Vmn2r90	T	C	17: 17,733,280	S569P	probably benign	Het
Vps13c	T	A	9: 67,964,108	V3220E	probably damaging	Het
Wdr59	T	C	8: 111,481,933	N439S	possibly damaging	Het
Zfp568	A	G	7: 30,022,277	M215V	probably benign	Het
Zgrf1	T	A	3: 127,584,007	V967E	probably damaging	Het
Zkscan16	A	G	4: 58,956,483	D255G	possibly damaging	Het

Other mutations in Muc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01878:Muc16	APN	9	18495543	missense	possibly damaging	0.90
IGL02394:Muc16	APN	9	18498700	missense	probably damaging	0.99
IGL02553:Muc16	APN	9	18498553	critical splice donor site	probably null
R0400:Muc16	UTSW	9	18510534	missense	possibly damaging	0.74
R1620:Muc16	UTSW	9	18510477	missense	possibly damaging	0.89
R1695:Muc16	UTSW	9	18497433	missense	probably damaging	1.00
R3196:Muc16	UTSW	9	18497830	missense	probably damaging	1.00
R5982:Muc16	UTSW	9	18647146	missense	unknown
R5990:Muc16	UTSW	9	18659243	missense	unknown
R6024:Muc16	UTSW	9	18646671	missense	unknown
R6026:Muc16	UTSW	9	18659858	missense	unknown
R6028:Muc16	UTSW	9	18657176	missense	unknown
R6083:Muc16	UTSW	9	18657212	missense	unknown
R6089:Muc16	UTSW	9	18643252	missense	unknown
R6109:Muc16	UTSW	9	18655359	missense	unknown
R6127:Muc16	UTSW	9	18657878	missense	unknown
R6130:Muc16	UTSW	9	18590698	missense	probably damaging	1.00
R6146:Muc16	UTSW	9	18497797	missense	probably damaging	0.98
R6161:Muc16	UTSW	9	18647818	missense	unknown
R6164:Muc16	UTSW	9	18558379	missense	probably damaging	1.00
R6185:Muc16	UTSW	9	18654473	missense	unknown
R6192:Muc16	UTSW	9	18658689	missense	unknown
R6217:Muc16	UTSW	9	18655446	missense	unknown
R6232:Muc16	UTSW	9	18656998	missense	unknown
R6246:Muc16	UTSW	9	18577067	intron	probably null
R6255:Muc16	UTSW	9	18655599	missense	unknown
R6280:Muc16	UTSW	9	18579317	critical splice donor site	probably null
R6286:Muc16	UTSW	9	18644389	missense	unknown
R6287:Muc16	UTSW	9	18659034	missense	unknown
R6307:Muc16	UTSW	9	18647588	missense	unknown
R6310:Muc16	UTSW	9	18641950	missense	probably benign	0.00
R6316:Muc16	UTSW	9	18641819	missense	probably benign	0.01
R6335:Muc16	UTSW	9	18660708	missense	unknown
R6345:Muc16	UTSW	9	18654926	missense	unknown
R6349:Muc16	UTSW	9	18657329	missense	unknown
R6366:Muc16	UTSW	9	18646044	missense	unknown
R6393:Muc16	UTSW	9	18647399	nonsense	probably null
R6440:Muc16	UTSW	9	18641359	missense	probably benign	0.01
R6458:Muc16	UTSW	9	18641721	missense	probably benign	0.01
R6460:Muc16	UTSW	9	18640516	missense	probably benign	0.01
R6481:Muc16	UTSW	9	18550677	critical splice donor site	probably null
R6539:Muc16	UTSW	9	18637325	missense	probably benign	0.25
R6551:Muc16	UTSW	9	18562562	missense	possibly damaging	0.95
R6596:Muc16	UTSW	9	18566715	missense	probably benign	0.18
R6601:Muc16	UTSW	9	18637570	missense	probably benign	0.10
R6602:Muc16	UTSW	9	18609476	intron	probably null
R6615:Muc16	UTSW	9	18647188	missense	unknown
R6625:Muc16	UTSW	9	18660278	missense	unknown
R6668:Muc16	UTSW	9	18640385	missense	probably benign	0.03
R6697:Muc16	UTSW	9	18641291	missense	probably benign	0.01
R6710:Muc16	UTSW	9	18642070	missense	possibly damaging	0.95
R6727:Muc16	UTSW	9	18566690	critical splice donor site	probably null
R6789:Muc16	UTSW	9	18559986	missense	probably benign	0.40
R6806:Muc16	UTSW	9	18537910	critical splice donor site	probably null
R6874:Muc16	UTSW	9	18658769	nonsense	probably null
R6894:Muc16	UTSW	9	18495576	missense	possibly damaging	0.92
R6913:Muc16	UTSW	9	18642663	missense	unknown
R6919:Muc16	UTSW	9	18660299	missense	unknown
R6939:Muc16	UTSW	9	18638537	missense	probably benign	0.04
R6953:Muc16	UTSW	9	18640529	missense	probably benign	0.01
R6956:Muc16	UTSW	9	18645026	missense	unknown
R6977:Muc16	UTSW	9	18645337	missense	unknown
R6996:Muc16	UTSW	9	18645897	missense	unknown
R7011:Muc16	UTSW	9	18637451	missense	probably benign	0.26
R7011:Muc16	UTSW	9	18637543	missense	probably benign	0.10
R7012:Muc16	UTSW	9	18495618	critical splice acceptor site	probably null
R7014:Muc16	UTSW	9	18658236	missense	unknown
R7021:Muc16	UTSW	9	18554919	missense	unknown
R7021:Muc16	UTSW	9	18550831	splice site	probably null
R7038:Muc16	UTSW	9	18620468	missense	probably damaging	0.99
R7057:Muc16	UTSW	9	18646079	missense	unknown
R7058:Muc16	UTSW	9	18639755	missense	probably benign	0.10
R7066:Muc16	UTSW	9	18658021	missense	unknown
R7067:Muc16	UTSW	9	18658251	missense	unknown
R7070:Muc16	UTSW	9	18645923	nonsense	probably null
R7074:Muc16	UTSW	9	18655650	missense	unknown
R7085:Muc16	UTSW	9	18644849	missense	unknown
R7088:Muc16	UTSW	9	18592680	missense	probably damaging	0.99
R7107:Muc16	UTSW	9	18637298	missense	probably benign	0.10
R7108:Muc16	UTSW	9	18655233	missense	unknown
R7126:Muc16	UTSW	9	18641216	missense	probably benign	0.01
R7128:Muc16	UTSW	9	18643004	missense	unknown
R7145:Muc16	UTSW	9	18655580	missense	unknown
R7179:Muc16	UTSW	9	18642008	missense	probably benign	0.00
R7194:Muc16	UTSW	9	18674454	missense	unknown
R7211:Muc16	UTSW	9	18498570	missense	probably damaging	1.00
R7213:Muc16	UTSW	9	18641416	missense	probably benign	0.01
R7217:Muc16	UTSW	9	18644076	nonsense	probably null
R7221:Muc16	UTSW	9	18642199	missense	probably benign	0.04
R7265:Muc16	UTSW	9	18656472	missense	unknown
R7326:Muc16	UTSW	9	18585013	missense	probably benign	0.03
R7359:Muc16	UTSW	9	18643020	missense	unknown
R7387:Muc16	UTSW	9	18641720	missense	probably benign	0.01
R7391:Muc16	UTSW	9	18639536	missense	probably benign	0.04
R7398:Muc16	UTSW	9	18637742	missense	possibly damaging	0.46
R7419:Muc16	UTSW	9	18641962	missense	probably benign	0.01
R7431:Muc16	UTSW	9	18607993	missense
R7484:Muc16	UTSW	9	18646768	missense	unknown
R7487:Muc16	UTSW	9	18584799	missense	possibly damaging	0.93
R7497:Muc16	UTSW	9	18645089	missense	unknown
R7515:Muc16	UTSW	9	18639662	missense	probably benign	0.00
R7537:Muc16	UTSW	9	18638135	missense	probably benign	0.06
R7538:Muc16	UTSW	9	18642131	missense	probably benign	0.10
R7538:Muc16	UTSW	9	18655451	missense	unknown
R7543:Muc16	UTSW	9	18644732	missense	unknown
R7566:Muc16	UTSW	9	18638629	missense	probably benign	0.00
R7581:Muc16	UTSW	9	18645614	missense	unknown
R7594:Muc16	UTSW	9	18645062	missense	unknown
R7629:Muc16	UTSW	9	18566785	missense	possibly damaging	0.86
R7664:Muc16	UTSW	9	18607722	missense	probably benign	0.08
R7666:Muc16	UTSW	9	18558427	missense	probably damaging	1.00
R7703:Muc16	UTSW	9	18605282	missense
R7727:Muc16	UTSW	9	18660242	missense	unknown

Posted On

2013-10-07