Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Mms19'

593184

Institutional Source

Beutler Lab

Gene Symbol

Mms19

Ensembl Gene

ENSMUSG00000025159

Gene Name

MMS19 (MET18 S. cerevisiae)

Synonyms

Mms19, 2610042O15Rik, C86341, Mms19l

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41941086-41981157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41955168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 417 (M417K)

Ref Sequence

ENSEMBL: ENSMUSP00000130900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026168] [ENSMUST00000163287] [ENSMUST00000163398] [ENSMUST00000164776] [ENSMUST00000167820] [ENSMUST00000167927] [ENSMUST00000168484] [ENSMUST00000169775] [ENSMUST00000171561]

AlphaFold

Q9D071

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026168
AA Change: M374K

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: M374K

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

possibly damaging
Transcript: ENSMUST00000163287
AA Change: M271K

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: M271K

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

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: ENSMUST00000168484

SMART Domains

Protein: ENSMUSP00000126881
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

possibly damaging
Transcript: ENSMUST00000171561
AA Change: M417K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: M417K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,258,182	K2383R	probably benign	Het
Acly	C	T	11: 100,504,854		probably null	Het
Baiap3	T	A	17: 25,249,337	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,209,193	D419E	probably benign	Het
Celsr2	G	T	3: 108,397,769	P2165T	probably benign	Het
Clk4	A	G	11: 51,281,398	D476G	probably benign	Het
Dera	A	G	6: 137,836,880	T10A		Het
Dip2c	A	T	13: 9,604,581	T742S	probably benign	Het
Dohh	C	A	10: 81,387,806	A231E	probably benign	Het
Dot1l	T	G	10: 80,789,368	S1150A	possibly damaging	Het
Eea1	T	A	10: 96,026,598	I794N	probably benign	Het
En2	T	C	5: 28,170,289	S277P	probably damaging	Het
Erich1	A	G	8: 14,030,691	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224	N1779S	probably damaging	Het
Frzb	T	A	2: 80,424,635	T186S	probably benign	Het
Gdf7	T	A	12: 8,298,257	R347*	probably null	Het
Ighv9-4	T	C	12: 114,300,263	I17V	not run	Het
Ipo13	G	A	4: 117,911,891	P235S	probably benign	Het
Itga2	C	A	13: 114,866,260	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,458,609		probably benign	Het
Kcnk10	A	G	12: 98,435,096	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,599,492	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,862,120	D1086N	unknown	Het
Kntc1	A	G	5: 123,759,089	I172V	probably benign	Het
Maip1	A	G	1: 57,411,844	E215G	probably damaging	Het
Mslnl	T	C	17: 25,743,183	V185A	probably damaging	Het
Naa11	A	T	5: 97,391,789	V170E	probably benign	Het
Ncapg	C	T	5: 45,699,885	P980S	probably benign	Het
Olfr170	T	C	16: 19,605,735	N310S	probably benign	Het
Pbxip1	A	G	3: 89,448,199	D675G	probably damaging	Het
Pdlim5	A	G	3: 142,277,847	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,854,390	I2184F		Het
Plau	A	G	14: 20,839,798	Y237C	probably damaging	Het
Ppl	T	C	16: 5,097,942	T586A	probably benign	Het
Rapgef6	T	G	11: 54,661,075	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,306,494	G17D	unknown	Het
Sema3b	T	C	9: 107,603,814	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,656,266	I297T	probably damaging	Het
Slit1	A	G	19: 41,650,689	F261L	probably benign	Het
Tcp10a	T	A	17: 7,345,108	V433D	probably damaging	Het
Tktl2	A	G	8: 66,513,101	E437G	probably damaging	Het
Tll1	G	T	8: 64,121,492	Y109*	probably null	Het
Tmem79	A	G	3: 88,332,581	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,681,462	S55L	probably benign	Het
Ubd	T	C	17: 37,193,974		probably null	Het
Ubl3	C	A	5: 148,506,175	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,914,584	D72V	probably damaging	Het
Wdr55	T	C	18: 36,762,023	S81P	probably damaging	Het
Wtip	T	C	7: 34,116,619	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,499,862	S36A	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
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
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
R9527:Mms19	UTSW	19	41964391	missense	possibly damaging	0.68
R9714:Mms19	UTSW	19	41946971	missense	possibly damaging	0.90
Z1177:Mms19	UTSW	19	41957140	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCAGCCTATGAACATGGCC -3'
(R):5'- ACAGATGAGACTTGGGTGCC -3'

Sequencing Primer
(F):5'- ATGAACATGGCCACTCTCCTGG -3'
(R):5'- GTCCCTTTCTTGGAGAGACTGATAC -3'

Posted On

2019-11-12