Mutagenetix > Incidental Mutations

Incidental Mutation 'R7066:Muc16'

548575

Institutional Source

Beutler Lab

Gene Symbol

Muc16

Ensembl Gene

ENSMUSG00000109564

Gene Name

mucin 16

Synonyms

1110008I14Rik, LOC385009

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7066 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18495455-18674530 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18658021 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1067 (S1067R)

Ref Sequence

ENSEMBL: ENSMUSP00000147104 (fasta)

Predicted Effect

unknown
Transcript: ENSMUST00000208663
AA Change: S1067R

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,927,114	V175A	probably damaging	Het
Adamts5	A	T	16: 85,862,764	V880E	probably damaging	Het
Adgrf1	T	A	17: 43,310,260	F463I	probably benign	Het
Ano1	T	A	7: 144,637,086	E249D	probably benign	Het
Aoc1	A	G	6: 48,908,619	D686G	probably damaging	Het
Cacna1d	A	T	14: 30,352,978		probably benign	Het
Cdc42ep4	A	G	11: 113,729,218	S116P	probably damaging	Het
Ces2a	T	C	8: 104,740,248	V463A	probably damaging	Het
Depdc5	A	G	5: 32,901,848	D297G	probably benign	Het
Fsip2	T	A	2: 82,990,891	V5656E	possibly damaging	Het
Gbp5	A	G	3: 142,507,729	T469A	probably benign	Het
Gm21663	C	G	5: 25,941,261		probably null	Het
Iqch	A	G	9: 63,524,745	V456A	probably benign	Het
Lpcat1	A	C	13: 73,511,381	I373L	probably benign	Het
Morc2b	C	T	17: 33,136,636	V721I	probably benign	Het
Mrgprb1	C	T	7: 48,447,676	V163M	probably benign	Het
Mtfr2	A	G	10: 20,354,226	I142V	possibly damaging	Het
Myh14	T	C	7: 44,630,755	S892G	possibly damaging	Het
Mylk2	C	T	2: 152,911,668		probably null	Het
Mzf1	A	T	7: 13,043,563	V638E	possibly damaging	Het
Ncoa1	C	T	12: 4,322,934	V156I	possibly damaging	Het
Nf1	A	G	11: 79,556,720	E2450G	probably damaging	Het
Olfr1048	T	C	2: 86,236,658	D52G	probably damaging	Het
Olfr1086	T	A	2: 86,677,226	T36S	possibly damaging	Het
Olfr114	T	A	17: 37,590,143	D70V	probably damaging	Het
Olfr1245	T	C	2: 89,575,703	T8A	probably damaging	Het
Olfr1313	G	A	2: 112,072,196	P129L	probably damaging	Het
Olfr389	A	G	11: 73,777,192	I45T	probably damaging	Het
Olfr794	T	C	10: 129,571,504	L283S	probably damaging	Het
Olfr969	A	G	9: 39,796,124	I250V	probably benign	Het
P4htm	T	G	9: 108,596,963	K125N	probably damaging	Het
Patj	A	G	4: 98,413,197	T240A	probably benign	Het
Pcolce2	T	C	9: 95,681,621	V220A	probably benign	Het
Pcyox1	A	T	6: 86,394,496	I136N	probably damaging	Het
Pde4b	A	G	4: 102,602,806	S395G	probably benign	Het
Peg3	C	A	7: 6,708,857	R1122L	probably damaging	Het
Plekhm1	A	G	11: 103,370,988	V922A	possibly damaging	Het
Rad51c	T	C	11: 87,402,676	N118S	possibly damaging	Het
Rb1cc1	T	A	1: 6,250,005	V1216D	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rlf	T	C	4: 121,148,787	M999V	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,918		probably benign	Het
Samd7	G	C	3: 30,751,123	K18N	probably benign	Het
Sema5b	A	C	16: 35,651,312	D425A	probably benign	Het
Siglecg	A	G	7: 43,411,742	E413G	probably benign	Het
Tcaf1	A	T	6: 42,679,177	N288K	probably damaging	Het
Tdp1	A	G	12: 99,894,732	D210G	probably benign	Het
Umps	A	T	16: 33,961,733	L273*	probably null	Het
Vcan	A	T	13: 89,705,686	V385D	probably damaging	Het
Wdr59	T	C	8: 111,465,845	T676A	probably benign	Het
Zdbf2	A	G	1: 63,307,559	H1699R	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,895,021		probably benign	Het

Other mutations in Muc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Muc16	APN	9	18508507	missense	possibly damaging	0.89
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
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

Predicted Primers

PCR Primer
(F):5'- CCCATGTTAGACCCTGATGTGAC -3'
(R):5'- GCACTGTCTCTGTCAAGGGTAC -3'

Sequencing Primer
(F):5'- TAGACCCTGATGTGACTGAGG -3'
(R):5'- AGCATCATGGACACCTAC -3'

Posted On

2019-05-13