Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00157:Mms19'

698

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mms19

Ensembl Gene

ENSMUSG00000025159

Gene Name

MMS19 (MET18 S. cerevisiae)

Synonyms

Mms19, 2610042O15Rik, C86341, Mms19l

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL00157

Quality Score

Status

Chromosome

Chromosomal Location

41941086-41981157 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 41945457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130900 (fasta)

Gene Model

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

AlphaFold

Q9D071

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 null
Transcript: ENSMUST00000026168

SMART Domains

Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159

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 null
Transcript: ENSMUST00000163287

SMART Domains

Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159

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

noncoding transcript
Transcript: ENSMUST00000166517

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

probably null
Transcript: ENSMUST00000171561

SMART Domains

Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159

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: ENSMUST00000170209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223624

Predicted Effect

probably benign
Transcript: ENSMUST00000223802

Predicted Effect

probably benign
Transcript: ENSMUST00000225968

Predicted Effect

probably benign
Transcript: ENSMUST00000224562

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	A	G	7: 44,253,451	V331A	possibly damaging	Het
Casr	C	A	16: 36,495,810	V633F	probably damaging	Het
Cblb	T	G	16: 52,183,307	V716G	probably benign	Het
Cbln2	C	T	18: 86,716,384	Q156*	probably null	Het
Cnn1	G	T	9: 22,099,397	L14F	possibly damaging	Het
D830013O20Rik	T	C	12: 73,364,247		noncoding transcript	Het
Drd1	A	G	13: 54,053,878	S99P	probably damaging	Het
Fam35a	A	G	14: 34,268,625	V108A	probably benign	Het
Fat1	T	C	8: 44,951,670	V486A	possibly damaging	Het
Galnt7	T	C	8: 57,540,039	N416S	probably damaging	Het
Gm10735	T	C	13: 113,041,484		probably benign	Het
Gm8909	A	T	17: 36,165,354		probably null	Het
Jag2	T	C	12: 112,912,718	T790A	probably benign	Het
Klhdc1	T	A	12: 69,242,008	Y31N	possibly damaging	Het
Lama1	A	T	17: 67,815,928	M2769L	probably benign	Het
Msrb2	C	A	2: 19,394,341	P172T	probably damaging	Het
Olfr228	T	C	2: 86,483,218	S175G	probably benign	Het
Olfr955	A	G	9: 39,470,243	V161A	probably benign	Het
Pcdhb9	T	A	18: 37,403,279	D775E	possibly damaging	Het
Pkhd1	T	C	1: 20,566,874		probably null	Het
Preb	A	T	5: 30,955,964	D375E	probably damaging	Het
Prkdc	T	C	16: 15,697,226	I1010T	probably damaging	Het
Rbp2	A	G	9: 98,498,897		probably null	Het
Sept9	A	G	11: 117,352,184	T66A	probably damaging	Het
Serpinb9b	A	T	13: 33,035,625	E178D	probably benign	Het
Tg	A	G	15: 66,847,166	Y258C	probably damaging	Het
Tmprss7	T	C	16: 45,663,368	R548G	probably benign	Het
Uba7	G	A	9: 107,979,111	A536T	probably benign	Het
Vmn2r114	G	A	17: 23,291,665	P614S	probably damaging	Het
Xpc	A	G	6: 91,492,264		probably benign	Het
Yrdc	T	C	4: 124,853,961	S86P	probably damaging	Het
Zbed6	G	T	1: 133,657,376	A741D	probably damaging	Het

Other mutations in Mms19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Mms19	APN	19	41948233	missense	probably benign	0.12
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
R4748: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
R7942:Mms19	UTSW	19	41955961	missense	probably damaging	1.00
R8464:Mms19	UTSW	19	41947083	missense	probably damaging	1.00
R8681:Mms19	UTSW	19	41949476	missense	probably damaging	1.00
R8849:Mms19	UTSW	19	41964328	missense	probably damaging	1.00
R9334:Mms19	UTSW	19	41953764	missense	probably benign	0.02
Z1177:Mms19	UTSW	19	41957140	critical splice donor site	probably null

Posted On

2011-07-12