Mutagenetix > Incidental Mutations

Incidental Mutation 'R4748:Mms19'

357346

Institutional Source

Beutler Lab

Gene Symbol

Mms19

Ensembl Gene

ENSMUSG00000025159

Gene Name

MMS19 (MET18 S. cerevisiae)

Synonyms

Mms19, 2610042O15Rik, C86341, Mms19l

MMRRC Submission

042030-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R4748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41941086-41981157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41944558 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1031 (S1031C)

Ref Sequence

ENSEMBL: ENSMUSP00000130900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000026168] [ENSMUST00000163287] [ENSMUST00000163398] [ENSMUST00000164776] [ENSMUST00000167820] [ENSMUST00000167927] [ENSMUST00000169775] [ENSMUST00000171561] [ENSMUST00000223802] [ENSMUST00000224562] [ENSMUST00000225968]

Predicted Effect

probably benign
Transcript: ENSMUST00000026154

SMART Domains

Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157

Domain	Start	End	E-Value	Type
low complexity region	7	35	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
transmembrane domain	115	137	N/A	INTRINSIC
Pfam:zf-DHHC	151	289	1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026168
AA Change: S988C

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: S988C

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	167	1.4e-29	PFAM
Pfam:MMS19_N	163	270	2.4e-44	PFAM
low complexity region	329	343	N/A	INTRINSIC
Pfam:MMS19_C	484	921	4.3e-120	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163287
AA Change: S885C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: S885C

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	3	265	9.8e-97	PFAM
Pfam:MMS19_C	381	818	1e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163398

Predicted Effect

probably benign
Transcript: ENSMUST00000164776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165043

Predicted Effect

probably benign
Transcript: ENSMUST00000166090

SMART Domains

Protein: ENSMUSP00000131219
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_C	102	494	2.2e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167820

SMART Domains

Protein: ENSMUSP00000130399
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_C	63	286	7.9e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167927

SMART Domains

Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	313	4.6e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169775

SMART Domains

Protein: ENSMUSP00000128234
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	167	1.5e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170209

Predicted Effect

probably damaging
Transcript: ENSMUST00000171561
AA Change: S1031C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: S1031C

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	312	6.3e-90	PFAM
low complexity region	372	386	N/A	INTRINSIC
Pfam:MMS19_C	528	963	3.9e-116	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223785

Predicted Effect

probably benign
Transcript: ENSMUST00000223802

Predicted Effect

probably benign
Transcript: ENSMUST00000224537

Predicted Effect

probably benign
Transcript: ENSMUST00000224562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225433

Predicted Effect

probably benign
Transcript: ENSMUST00000225968

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,856,656	E54D	possibly damaging	Het
4933415F23Rik	T	C	1: 23,101,870	E121G	probably damaging	Het
Abcb6	C	A	1: 75,177,358	G367W	probably damaging	Het
Asprv1	A	G	6: 86,628,423	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,701,507	V291A	probably damaging	Het
B4galnt4	T	C	7: 141,071,720	F980L	probably damaging	Het
Bpi	G	A	2: 158,272,021	V280I	possibly damaging	Het
Bptf	T	C	11: 107,095,880	D581G	probably damaging	Het
Cap2	T	A	13: 46,639,826	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 77,057,980	I480M	possibly damaging	Het
Ccnh	T	A	13: 85,189,639	V35E	probably benign	Het
Cd6	G	T	19: 10,794,225	S433*	probably null	Het
Ceacam10	A	C	7: 24,781,052	I83L	probably benign	Het
Chek2	T	C	5: 110,855,839		probably null	Het
Chia1	A	T	3: 106,122,449	D73V	probably damaging	Het
Commd2	G	A	3: 57,646,794	T162I	probably benign	Het
Creb3l3	C	T	10: 81,086,047	A316T	probably benign	Het
Cul4a	A	G	8: 13,123,526	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,016,737		probably null	Het
D630045J12Rik	T	C	6: 38,196,841	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,550,236	K295N	probably damaging	Het
Dnah1	A	G	14: 31,319,945	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,642,651	D275G	probably damaging	Het
Enam	C	A	5: 88,501,543	P304T	probably damaging	Het
Enpep	A	G	3: 129,332,163	Y107H	probably damaging	Het
Exd2	T	C	12: 80,480,576	L27P	probably damaging	Het
Fam135b	T	A	15: 71,464,055	D430V	probably benign	Het
Fam222b	C	T	11: 78,154,603	T202I	possibly damaging	Het
Fmod	T	A	1: 134,041,174	N317K	probably damaging	Het
Frem2	A	G	3: 53,541,093	F2301L	probably damaging	Het
Frem3	T	C	8: 80,611,459	F127S	probably damaging	Het
Gbp7	A	G	3: 142,538,087	S132G	probably benign	Het
Gm4787	A	G	12: 81,378,056	C443R	probably damaging	Het
Grik2	T	C	10: 49,535,341	M5V	possibly damaging	Het
Helb	T	C	10: 120,084,849	D1063G	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt90	G	A	15: 101,555,333	L429F	probably damaging	Het
Lrr1	C	A	12: 69,174,462	T126K	probably benign	Het
Mgat4e	C	A	1: 134,542,028	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,840,781	S343R	possibly damaging	Het
Mtrf1	C	T	14: 79,411,650	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,473,056	L408Q	probably damaging	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr1163	T	A	2: 88,070,612	I257L	probably benign	Het
Olfr1238	C	T	2: 89,406,255	V275I	probably benign	Het
Olfr273	A	G	4: 52,856,076	S146P	possibly damaging	Het
Olfr738	T	G	14: 50,413,876	L111V	possibly damaging	Het
Otud7a	T	C	7: 63,735,915	S376P	possibly damaging	Het
Pabpc2	A	T	18: 39,774,269	K196*	probably null	Het
Paqr8	T	A	1: 20,935,413	C264S	probably benign	Het
Pgm2	T	A	4: 99,981,979	F459Y	probably benign	Het
Phip	C	A	9: 82,908,869	V675L	probably benign	Het
Pnma1	T	G	12: 84,147,723	T69P	probably benign	Het
Ptpn12	A	T	5: 21,005,385	C242*	probably null	Het
Rabep1	T	A	11: 70,908,468	V306E	probably benign	Het
Ros1	C	T	10: 52,115,997	D1377N	probably benign	Het
Ryr3	T	C	2: 112,964,405	T121A	possibly damaging	Het
Scaf11	G	A	15: 96,420,421	Q421*	probably null	Het
Shcbp1	G	A	8: 4,744,512	T427M	probably damaging	Het
Shprh	G	A	10: 11,170,476	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,925,876	C163Y	probably benign	Het
Slc27a1	A	G	8: 71,580,675	D287G	probably damaging	Het
Slc27a1	C	T	8: 71,580,809	T310M	possibly damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc35f2	A	T	9: 53,771,785	M1L	probably benign	Het
Sltm	G	C	9: 70,581,365	R599T	probably damaging	Het
Spic	T	A	10: 88,675,890	Q168L	probably damaging	Het
Spink6	G	A	18: 44,082,361		probably null	Het
Stac2	T	C	11: 98,041,372	E235G	possibly damaging	Het
Szt2	G	A	4: 118,389,191	Q957*	probably null	Het
Them7	A	T	2: 105,378,646	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,271,716	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,236,890	E178G	probably benign	Het
Tomm40l	G	A	1: 171,219,562	R296*	probably null	Het
Trim80	C	A	11: 115,448,138	T598N	possibly damaging	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Vil1	C	T	1: 74,421,266	A194V	probably damaging	Het
Vmn2r61	A	T	7: 42,267,141	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Vps33b	G	T	7: 80,290,048	A516S	probably damaging	Het
Wisp1	C	A	15: 66,906,640	Y103*	probably null	Het
Zc3h6	G	A	2: 129,002,240	G235R	probably damaging	Het
Zfp612	T	A	8: 110,088,672	D170E	probably benign	Het
Zfp746	A	G	6: 48,064,556	I412T	probably benign	Het

Other mutations in Mms19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Mms19	APN	19	41948233	missense	probably benign	0.12
IGL00157:Mms19	APN	19	41945457	critical splice donor site	probably null
IGL01997:Mms19	APN	19	41956531	missense	probably damaging	1.00
IGL02081:Mms19	APN	19	41949979	critical splice donor site	probably null
IGL02171:Mms19	APN	19	41957139	critical splice donor site	probably null
IGL02306:Mms19	APN	19	41966264	missense	probably damaging	1.00
IGL02678:Mms19	APN	19	41954476	missense	possibly damaging	0.84
IGL02795:Mms19	APN	19	41952406	critical splice donor site	probably null
IGL03233:Mms19	APN	19	41946913	splice site	probably null
IGL03250:Mms19	APN	19	41954464	critical splice donor site	probably null
R0049:Mms19	UTSW	19	41955168	missense	probably damaging	0.99
R0049:Mms19	UTSW	19	41955168	missense	probably damaging	0.99
R0480:Mms19	UTSW	19	41954846	missense	probably damaging	0.98
R0498:Mms19	UTSW	19	41949773	missense	possibly damaging	0.82
R0505:Mms19	UTSW	19	41953734	missense	probably damaging	1.00
R0547:Mms19	UTSW	19	41963418	missense	probably damaging	0.99
R1102:Mms19	UTSW	19	41950845	missense	possibly damaging	0.77
R1183:Mms19	UTSW	19	41954831	missense	possibly damaging	0.83
R1544:Mms19	UTSW	19	41955821	critical splice donor site	probably null
R1666:Mms19	UTSW	19	41952556	missense	possibly damaging	0.73
R1668:Mms19	UTSW	19	41952556	missense	possibly damaging	0.73
R1808:Mms19	UTSW	19	41966259	missense	probably damaging	1.00
R1827:Mms19	UTSW	19	41953677	missense	probably benign	0.00
R3055:Mms19	UTSW	19	41950088	splice site	probably benign
R3551:Mms19	UTSW	19	41949798	missense	probably benign	0.04
R3716:Mms19	UTSW	19	41944735	missense	probably damaging	1.00
R3877:Mms19	UTSW	19	41966256	nonsense	probably null
R4288:Mms19	UTSW	19	41945553	missense	probably damaging	1.00
R4289:Mms19	UTSW	19	41945553	missense	probably damaging	1.00
R4445:Mms19	UTSW	19	41963933	missense	possibly damaging	0.48
R4446:Mms19	UTSW	19	41963933	missense	possibly damaging	0.48
R4610:Mms19	UTSW	19	41945496	missense	possibly damaging	0.91
R4734:Mms19	UTSW	19	41944558	missense	probably damaging	1.00
R5315:Mms19	UTSW	19	41954762	missense	possibly damaging	0.68
R5492:Mms19	UTSW	19	41955831	missense	possibly damaging	0.91
R5621:Mms19	UTSW	19	41966313	missense	probably benign	0.27
R5643:Mms19	UTSW	19	41955866	missense	possibly damaging	0.87
R5769:Mms19	UTSW	19	41964386	missense	probably damaging	1.00
R6567:Mms19	UTSW	19	41949767	critical splice donor site	probably null
R6569:Mms19	UTSW	19	41964368	missense	possibly damaging	0.93
R6588:Mms19	UTSW	19	41966276	missense	probably damaging	1.00
R6645:Mms19	UTSW	19	41955191	missense	probably benign	0.04
R6696:Mms19	UTSW	19	41954013	missense	probably benign	0.41
R7050:Mms19	UTSW	19	41950746	splice site	probably null
R7426:Mms19	UTSW	19	41948278	missense	probably benign
R7564:Mms19	UTSW	19	41947016	missense	probably benign	0.09
R7655:Mms19	UTSW	19	41944572	missense	probably damaging	0.98
R7656:Mms19	UTSW	19	41944572	missense	probably damaging	0.98
R7687:Mms19	UTSW	19	41955168	missense	possibly damaging	0.85
R7729:Mms19	UTSW	19	41952465	nonsense	probably null
Z1177:Mms19	UTSW	19	41957140	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TATTCCTGACAGACACGGGAG -3'
(R):5'- TCAGGTCATCCGAGCCTTAG -3'

Sequencing Primer
(F):5'- CCAAGGTCTTTTCCTCAAATACAAG -3'
(R):5'- GTCATCCGAGCCTTAGCCAAG -3'

Posted On

2015-11-11