Incidental Mutation 'R4748:Mms19'
ID 357346
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 042030-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R4748 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 41932146-41969603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41932997 bp (GRCm39)
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] [ENSMUST00000171561] [ENSMUST00000223802] [ENSMUST00000167927] [ENSMUST00000167820] [ENSMUST00000169775] [ENSMUST00000224562] [ENSMUST00000225968]
AlphaFold Q9D071
Predicted Effect probably benign
Transcript: ENSMUST00000026154
SMART Domains Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157

DomainStartEndE-ValueType
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

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 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:MMS19_C 102 494 2.2e-97 PFAM
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

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: ENSMUST00000169779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223768
Predicted Effect probably benign
Transcript: ENSMUST00000223802
Predicted Effect probably benign
Transcript: ENSMUST00000167927
SMART Domains Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_N 51 313 4.6e-99 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223624
Predicted Effect probably benign
Transcript: ENSMUST00000167820
SMART Domains Protein: ENSMUSP00000130399
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_C 63 286 7.9e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223785
Predicted Effect probably benign
Transcript: ENSMUST00000169775
SMART Domains Protein: ENSMUSP00000128234
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_N 51 167 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224537
Predicted Effect probably benign
Transcript: ENSMUST00000224562
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,784,394 (GRCm39) E54D possibly damaging Het
Abcb6 C A 1: 75,154,002 (GRCm39) G367W probably damaging Het
Asprv1 A G 6: 86,605,405 (GRCm39) M84V probably damaging Het
Aspscr1 T C 11: 120,592,333 (GRCm39) V291A probably damaging Het
B4galnt4 T C 7: 140,651,633 (GRCm39) F980L probably damaging Het
Bpi G A 2: 158,113,941 (GRCm39) V280I possibly damaging Het
Bptf T C 11: 106,986,706 (GRCm39) D581G probably damaging Het
Cap2 T A 13: 46,793,302 (GRCm39) Y223N possibly damaging Het
Ccdc141 A C 2: 76,888,324 (GRCm39) I480M possibly damaging Het
Ccn4 C A 15: 66,778,489 (GRCm39) Y103* probably null Het
Ccnh T A 13: 85,337,758 (GRCm39) V35E probably benign Het
Cd6 G T 19: 10,771,589 (GRCm39) S433* probably null Het
Ceacam10 A C 7: 24,480,477 (GRCm39) I83L probably benign Het
Chek2 T C 5: 111,003,705 (GRCm39) probably null Het
Chia1 A T 3: 106,029,765 (GRCm39) D73V probably damaging Het
Commd2 G A 3: 57,554,215 (GRCm39) T162I probably benign Het
Creb3l3 C T 10: 80,921,881 (GRCm39) A316T probably benign Het
Cul4a A G 8: 13,173,526 (GRCm39) K1R probably benign Het
Cyp2c23 T C 19: 44,005,176 (GRCm39) probably null Het
D630045J12Rik T C 6: 38,173,776 (GRCm39) T131A possibly damaging Het
Dctn4 A C 18: 60,683,308 (GRCm39) K295N probably damaging Het
Dnah1 A G 14: 31,041,902 (GRCm39) V23A probably benign Het
Dync1i1 A G 6: 5,767,048 (GRCm39) K91E possibly damaging Het
Dzip1l A G 9: 99,524,704 (GRCm39) D275G probably damaging Het
Enam C A 5: 88,649,402 (GRCm39) P304T probably damaging Het
Enpep A G 3: 129,125,812 (GRCm39) Y107H probably damaging Het
Exd2 T C 12: 80,527,350 (GRCm39) L27P probably damaging Het
Fam135b T A 15: 71,335,904 (GRCm39) D430V probably benign Het
Fam222b C T 11: 78,045,429 (GRCm39) T202I possibly damaging Het
Fmod T A 1: 133,968,912 (GRCm39) N317K probably damaging Het
Frem2 A G 3: 53,448,514 (GRCm39) F2301L probably damaging Het
Frem3 T C 8: 81,338,088 (GRCm39) F127S probably damaging Het
Gbp7 A G 3: 142,243,848 (GRCm39) S132G probably benign Het
Gm4787 A G 12: 81,424,830 (GRCm39) C443R probably damaging Het
Grik2 T C 10: 49,411,437 (GRCm39) M5V possibly damaging Het
Helb T C 10: 119,920,754 (GRCm39) D1063G probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt90 G A 15: 101,463,768 (GRCm39) L429F probably damaging Het
Lrr1 C A 12: 69,221,236 (GRCm39) T126K probably benign Het
Mgat4e C A 1: 134,469,766 (GRCm39) D93Y probably damaging Het
Mllt3 A T 4: 87,759,018 (GRCm39) S343R possibly damaging Het
Mtrf1 C T 14: 79,649,090 (GRCm39) H237Y probably damaging Het
Nckap1l T A 15: 103,381,483 (GRCm39) L408Q probably damaging Het
Oit3 A T 10: 59,259,904 (GRCm39) C500S probably damaging Het
Or11g1 T G 14: 50,651,333 (GRCm39) L111V possibly damaging Het
Or13c3 A G 4: 52,856,076 (GRCm39) S146P possibly damaging Het
Or4a39 C T 2: 89,236,599 (GRCm39) V275I probably benign Het
Or5d36 T A 2: 87,900,956 (GRCm39) I257L probably benign Het
Otud7a T C 7: 63,385,663 (GRCm39) S376P possibly damaging Het
Pabpc2 A T 18: 39,907,322 (GRCm39) K196* probably null Het
Paqr8 T A 1: 21,005,637 (GRCm39) C264S probably benign Het
Pgm1 T A 4: 99,839,176 (GRCm39) F459Y probably benign Het
Phip C A 9: 82,790,922 (GRCm39) V675L probably benign Het
Pnma1 T G 12: 84,194,497 (GRCm39) T69P probably benign Het
Ppp1r14bl T C 1: 23,140,951 (GRCm39) E121G probably damaging Het
Ptpn12 A T 5: 21,210,383 (GRCm39) C242* probably null Het
Rabep1 T A 11: 70,799,294 (GRCm39) V306E probably benign Het
Ros1 C T 10: 51,992,093 (GRCm39) D1377N probably benign Het
Ryr3 T C 2: 112,794,750 (GRCm39) T121A possibly damaging Het
Scaf11 G A 15: 96,318,302 (GRCm39) Q421* probably null Het
Shcbp1 G A 8: 4,794,512 (GRCm39) T427M probably damaging Het
Shprh G A 10: 11,046,220 (GRCm39) R979H probably damaging Het
Slc22a27 C T 19: 7,903,241 (GRCm39) C163Y probably benign Het
Slc27a1 A G 8: 72,033,319 (GRCm39) D287G probably damaging Het
Slc27a1 C T 8: 72,033,453 (GRCm39) T310M possibly damaging Het
Slc29a3 A G 10: 60,552,105 (GRCm39) V313A probably benign Het
Slc35f2 A T 9: 53,679,069 (GRCm39) M1L probably benign Het
Sltm G C 9: 70,488,647 (GRCm39) R599T probably damaging Het
Spic T A 10: 88,511,752 (GRCm39) Q168L probably damaging Het
Spink6 G A 18: 44,215,428 (GRCm39) probably null Het
Stac2 T C 11: 97,932,198 (GRCm39) E235G possibly damaging Het
Szt2 G A 4: 118,246,388 (GRCm39) Q957* probably null Het
Them7 A T 2: 105,208,991 (GRCm39) T104S possibly damaging Het
Tmed4 T A 11: 6,221,716 (GRCm39) I207F possibly damaging Het
Tmem248 A G 5: 130,265,731 (GRCm39) E178G probably benign Het
Tomm40l G A 1: 171,047,131 (GRCm39) R296* probably null Het
Trim80 C A 11: 115,338,964 (GRCm39) T598N possibly damaging Het
Trim9 T C 12: 70,295,047 (GRCm39) N688D probably damaging Het
Vil1 C T 1: 74,460,425 (GRCm39) A194V probably damaging Het
Vmn2r61 A T 7: 41,916,565 (GRCm39) M393L probably damaging Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Vps33b G T 7: 79,939,796 (GRCm39) A516S probably damaging Het
Zc3h6 G A 2: 128,844,160 (GRCm39) G235R probably damaging Het
Zfp612 T A 8: 110,815,304 (GRCm39) D170E probably benign Het
Zfp746 A G 6: 48,041,490 (GRCm39) I412T probably benign 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
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
R5621:Mms19 UTSW 19 41,954,752 (GRCm39) missense probably benign 0.27
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'- TATTCCTGACAGACACGGGAG -3'
(R):5'- TCAGGTCATCCGAGCCTTAG -3'

Sequencing Primer
(F):5'- CCAAGGTCTTTTCCTCAAATACAAG -3'
(R):5'- GTCATCCGAGCCTTAGCCAAG -3'
Posted On 2015-11-11