Mutagenetix > Incidental Mutation

Incidental Mutation 'R7655:Mms19'

591170

Institutional Source

Beutler Lab

Gene Symbol

Mms19

Ensembl Gene

ENSMUSG00000025159

Gene Name

MMS19 (MET18 S. cerevisiae)

Synonyms

Mms19, 2610042O15Rik, C86341, Mms19l

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7655 (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 G at 41944572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1026 (L1026P)

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]

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 damaging
Transcript: ENSMUST00000026168
AA Change: L983P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: L983P

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: L880P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: L880P

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: ENSMUST00000169775

SMART Domains

Protein: ENSMUSP00000128234
Gene: ENSMUSG00000025159

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171561
AA Change: L1026P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: L1026P

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

probably benign
Transcript: ENSMUST00000223802

Predicted Effect

probably benign
Transcript: ENSMUST00000224537

Predicted Effect

probably benign
Transcript: ENSMUST00000224562

Predicted Effect

probably benign
Transcript: ENSMUST00000225968

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	A	G	12: 83,992,917	Y400C	probably benign	Het
Agbl1	A	G	7: 76,409,332	M237V		Het
Arntl2	A	G	6: 146,806,442	T21A	probably benign	Het
Atrnl1	C	A	19: 57,611,379	S9*	probably null	Het
BC031181	A	T	18: 75,009,335	K71*	probably null	Het
Brpf1	A	T	6: 113,314,874	M294L	probably benign	Het
Camk2g	T	G	14: 20,739,342	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,118,465	R94W	probably damaging	Het
Cd244	T	A	1: 171,577,255	L225Q	probably damaging	Het
Chsy1	G	T	7: 66,171,030	V338F	probably damaging	Het
Col14a1	A	G	15: 55,362,450	I170V	unknown	Het
Col6a2	G	T	10: 76,607,756	Q492K	probably benign	Het
Dnah12	G	T	14: 26,859,316	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,496,005	S2699G	possibly damaging	Het
Fam206a	A	G	4: 56,804,218	I78V	probably benign	Het
Fsip2	A	G	2: 82,977,542	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,769,667	A127T	probably benign	Het
Glp1r	T	C	17: 30,930,598		probably null	Het
Gm15922	T	C	7: 3,739,282	E82G	probably damaging	Het
Gm19410	A	T	8: 35,809,099	M1637L	probably benign	Het
Gm906	T	G	13: 50,247,086	K401N	probably benign	Het
Grm5	T	G	7: 88,130,251	D998E	probably benign	Het
Krtcap3	A	G	5: 31,252,560	T157A	probably damaging	Het
Luc7l2	A	G	6: 38,603,464	R333G	unknown	Het
Mdc1	T	G	17: 35,850,881	S895R	probably benign	Het
Mef2a	G	A	7: 67,295,394	T80M	probably damaging	Het
Mitd1	T	A	1: 37,885,275	I65F	probably benign	Het
Mtbp	G	T	15: 55,609,526	V629L	unknown	Het
Ncapd3	T	A	9: 27,055,505	I545N	possibly damaging	Het
Nin	G	A	12: 70,042,768	T1291M		Het
Olfr1487	A	T	19: 13,619,833	I181F	probably damaging	Het
Olfr419	T	A	1: 174,250,218	K236N	probably damaging	Het
Orc3	G	T	4: 34,587,032	C352*	probably null	Het
Oxct2b	G	A	4: 123,117,757	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,479,405	T473S	probably benign	Het
Phkg2	G	A	7: 127,582,902	G365D	probably damaging	Het
Ppp2r3a	A	T	9: 101,211,712	F471I	probably benign	Het
Prl3d1	T	C	13: 27,100,035	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,984,128	F14L	probably benign	Het
Prox1	A	G	1: 190,162,221	L9P	probably damaging	Het
Ptpn13	T	A	5: 103,540,983	F881I	probably benign	Het
Rab3ip	A	G	10: 116,914,139	I363T	probably benign	Het
Rapgef3	T	C	15: 97,761,209	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,694,453	P1559L	probably benign	Het
Rnf180	T	C	13: 105,167,588	K507E	probably damaging	Het
Rpl3l	T	C	17: 24,730,986	I53T	probably benign	Het
Rtl1	T	C	12: 109,591,008	I1466V	unknown	Het
Saxo2	A	G	7: 82,635,351	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,670,380	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,865,497	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,763,244	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,105,908	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,996,563	H98P	possibly damaging	Het
T2	T	A	17: 8,418,215	C337*	probably null	Het
Tbc1d19	A	G	5: 53,897,035	Y455C	probably damaging	Het
Thbd	A	G	2: 148,407,420	L176P	probably damaging	Het
Tmem116	A	G	5: 121,452,189		probably null	Het
Tmem25	C	T	9: 44,798,343	V54I	possibly damaging	Het
Trpm4	C	T	7: 45,321,809	V378I	probably benign	Het
Trrap	G	T	5: 144,842,612	W3129C	probably damaging	Het
Ttn	A	T	2: 76,728,316	D29740E	probably damaging	Het
Vcan	C	T	13: 89,685,114	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,910,982	D388E	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
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
R9527:Mms19	UTSW	19	41964391	missense	possibly damaging	0.68
Z1177:Mms19	UTSW	19	41957140	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTTAAGAGTTTTGCACAGCC -3'
(R):5'- CATTTCCTGTTGCTCAGCAG -3'

Sequencing Primer
(F):5'- ACAGCCATGCAGGAGGC -3'
(R):5'- GATAATGTCTCTGACTTCACAGC -3'

Posted On

2019-11-12