Incidental Mutation 'R5621:Mms19'
ID 490468
Institutional Source Beutler Lab
Gene Symbol Mms19
Ensembl Gene ENSMUSG00000025159
Gene Name MMS19 cytosolic iron-sulfur assembly component
Synonyms 2610042O15Rik, Mms19l, C86341, Mms19
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5621 (G1)
Quality Score 177
Status Validated
Chromosome 19
Chromosomal Location 41932146-41969603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41954752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 56 (S56P)
Ref Sequence ENSEMBL: ENSMUSP00000128234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026168] [ENSMUST00000163287] [ENSMUST00000163398] [ENSMUST00000164776] [ENSMUST00000167927] [ENSMUST00000168484] [ENSMUST00000169775] [ENSMUST00000171561]
AlphaFold Q9D071
Predicted Effect probably benign
Transcript: ENSMUST00000026168
AA Change: S56P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: S56P

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000163287
AA Change: S8P

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: S8P

DomainStartEndE-ValueType
Pfam:MMS19_N 3 265 9.8e-97 PFAM
Pfam:MMS19_C 381 818 1e-120 PFAM
Predicted Effect silent
Transcript: ENSMUST00000163398
Predicted Effect silent
Transcript: ENSMUST00000164776
Predicted Effect probably benign
Transcript: ENSMUST00000167927
AA Change: S56P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159
AA Change: S56P

DomainStartEndE-ValueType
Pfam:MMS19_N 51 313 4.6e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168484
AA Change: S56P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126881
Gene: ENSMUSG00000025159
AA Change: S56P

DomainStartEndE-ValueType
Pfam:MMS19_N 51 313 4.6e-99 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000169765
AA Change: S14P
SMART Domains Protein: ENSMUSP00000133075
Gene: ENSMUSG00000025159
AA Change: S14P

DomainStartEndE-ValueType
Pfam:MMS19_N 10 80 6.3e-12 PFAM
Pfam:MMS19_N 77 129 9.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169775
AA Change: S56P

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128234
Gene: ENSMUSG00000025159
AA Change: S56P

DomainStartEndE-ValueType
Pfam:MMS19_N 51 167 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171561
AA Change: S56P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: S56P

DomainStartEndE-ValueType
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: ENSMUST00000169933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170209
Meta Mutation Damage Score 0.1421 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably damaging Het
Other mutations in Mms19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Mms19 APN 19 41,936,672 (GRCm39) missense probably benign 0.12
IGL00157:Mms19 APN 19 41,933,896 (GRCm39) critical splice donor site probably null
IGL01997:Mms19 APN 19 41,944,970 (GRCm39) missense probably damaging 1.00
IGL02081:Mms19 APN 19 41,938,418 (GRCm39) critical splice donor site probably null
IGL02171:Mms19 APN 19 41,945,578 (GRCm39) critical splice donor site probably null
IGL02306:Mms19 APN 19 41,954,703 (GRCm39) missense probably damaging 1.00
IGL02678:Mms19 APN 19 41,942,915 (GRCm39) missense possibly damaging 0.84
IGL02795:Mms19 APN 19 41,940,845 (GRCm39) critical splice donor site probably null
IGL03233:Mms19 APN 19 41,935,352 (GRCm39) splice site probably null
IGL03250:Mms19 APN 19 41,942,903 (GRCm39) critical splice donor site probably null
R0049:Mms19 UTSW 19 41,943,607 (GRCm39) missense probably damaging 0.99
R0049:Mms19 UTSW 19 41,943,607 (GRCm39) missense probably damaging 0.99
R0480:Mms19 UTSW 19 41,943,285 (GRCm39) missense probably damaging 0.98
R0498:Mms19 UTSW 19 41,938,212 (GRCm39) missense possibly damaging 0.82
R0505:Mms19 UTSW 19 41,942,173 (GRCm39) missense probably damaging 1.00
R0547:Mms19 UTSW 19 41,951,857 (GRCm39) missense probably damaging 0.99
R1102:Mms19 UTSW 19 41,939,284 (GRCm39) missense possibly damaging 0.77
R1183:Mms19 UTSW 19 41,943,270 (GRCm39) missense possibly damaging 0.83
R1544:Mms19 UTSW 19 41,944,260 (GRCm39) critical splice donor site probably null
R1666:Mms19 UTSW 19 41,940,995 (GRCm39) missense possibly damaging 0.73
R1668:Mms19 UTSW 19 41,940,995 (GRCm39) missense possibly damaging 0.73
R1808:Mms19 UTSW 19 41,954,698 (GRCm39) missense probably damaging 1.00
R1827:Mms19 UTSW 19 41,942,116 (GRCm39) missense probably benign 0.00
R3055:Mms19 UTSW 19 41,938,527 (GRCm39) splice site probably benign
R3551:Mms19 UTSW 19 41,938,237 (GRCm39) missense probably benign 0.04
R3716:Mms19 UTSW 19 41,933,174 (GRCm39) missense probably damaging 1.00
R3877:Mms19 UTSW 19 41,954,695 (GRCm39) nonsense probably null
R4288:Mms19 UTSW 19 41,933,992 (GRCm39) missense probably damaging 1.00
R4289:Mms19 UTSW 19 41,933,992 (GRCm39) missense probably damaging 1.00
R4445:Mms19 UTSW 19 41,952,372 (GRCm39) missense possibly damaging 0.48
R4446:Mms19 UTSW 19 41,952,372 (GRCm39) missense possibly damaging 0.48
R4610:Mms19 UTSW 19 41,933,935 (GRCm39) missense possibly damaging 0.91
R4734:Mms19 UTSW 19 41,932,997 (GRCm39) missense probably damaging 1.00
R4748:Mms19 UTSW 19 41,932,997 (GRCm39) missense probably damaging 1.00
R5315:Mms19 UTSW 19 41,943,201 (GRCm39) missense possibly damaging 0.68
R5492:Mms19 UTSW 19 41,944,270 (GRCm39) missense possibly damaging 0.91
R5643:Mms19 UTSW 19 41,944,305 (GRCm39) missense possibly damaging 0.87
R5769:Mms19 UTSW 19 41,952,825 (GRCm39) missense probably damaging 1.00
R6567:Mms19 UTSW 19 41,938,206 (GRCm39) critical splice donor site probably null
R6569:Mms19 UTSW 19 41,952,807 (GRCm39) missense possibly damaging 0.93
R6588:Mms19 UTSW 19 41,954,715 (GRCm39) missense probably damaging 1.00
R6645:Mms19 UTSW 19 41,943,630 (GRCm39) missense probably benign 0.04
R6696:Mms19 UTSW 19 41,942,452 (GRCm39) missense probably benign 0.41
R7050:Mms19 UTSW 19 41,939,185 (GRCm39) splice site probably null
R7426:Mms19 UTSW 19 41,936,717 (GRCm39) missense probably benign
R7564:Mms19 UTSW 19 41,935,455 (GRCm39) missense probably benign 0.09
R7655:Mms19 UTSW 19 41,933,011 (GRCm39) missense probably damaging 0.98
R7656:Mms19 UTSW 19 41,933,011 (GRCm39) missense probably damaging 0.98
R7687:Mms19 UTSW 19 41,943,607 (GRCm39) missense possibly damaging 0.85
R7729:Mms19 UTSW 19 41,940,904 (GRCm39) nonsense probably null
R7942:Mms19 UTSW 19 41,944,400 (GRCm39) missense probably damaging 1.00
R8464:Mms19 UTSW 19 41,935,522 (GRCm39) missense probably damaging 1.00
R8681:Mms19 UTSW 19 41,937,915 (GRCm39) missense probably damaging 1.00
R8849:Mms19 UTSW 19 41,952,767 (GRCm39) missense probably damaging 1.00
R9334:Mms19 UTSW 19 41,942,203 (GRCm39) missense probably benign 0.02
R9527:Mms19 UTSW 19 41,952,830 (GRCm39) missense possibly damaging 0.68
R9714:Mms19 UTSW 19 41,935,410 (GRCm39) missense possibly damaging 0.90
Z1177:Mms19 UTSW 19 41,945,579 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCTTTTGTCTGTGAACACTATGTAGG -3'
(R):5'- TGGGACTTTCTGTTACTGGACAC -3'

Sequencing Primer
(F):5'- GAACACTATGTAGGTCATGGCTC -3'
(R):5'- GACACTAATGTTATTGGCTCAGGAGC -3'
Posted On 2017-10-11