Incidental Mutation 'R3716:Mms19'
ID 259941
Institutional Source Beutler Lab
Gene Symbol Mms19
Ensembl Gene ENSMUSG00000025159
Gene Name MMS19 cytosolic iron-sulfur assembly component
Synonyms 2610042O15Rik, Mms19l, C86341, Mms19
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R3716 (G1)
Quality Score 144
Status Not validated
Chromosome 19
Chromosomal Location 41932146-41969603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41933174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 997 (V997A)
Ref Sequence ENSEMBL: ENSMUSP00000130900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000026168] [ENSMUST00000163287] [ENSMUST00000163398] [ENSMUST00000164776] [ENSMUST00000171561] [ENSMUST00000167820] [ENSMUST00000169775] [ENSMUST00000167927] [ENSMUST00000224562] [ENSMUST00000225968] [ENSMUST00000223802]
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 damaging
Transcript: ENSMUST00000026168
AA Change: V954A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: V954A

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 possibly damaging
Transcript: ENSMUST00000163287
AA Change: V851A

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: V851A

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 damaging
Transcript: ENSMUST00000171561
AA Change: V997A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: V997A

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: ENSMUST00000170209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223624
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 probably benign
Transcript: ENSMUST00000167820
SMART Domains Protein: ENSMUSP00000130399
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_C 63 286 7.9e-56 PFAM
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 noncoding transcript
Transcript: ENSMUST00000223785
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: ENSMUST00000223768
Predicted Effect probably benign
Transcript: ENSMUST00000224562
Predicted Effect probably benign
Transcript: ENSMUST00000225968
Predicted Effect probably benign
Transcript: ENSMUST00000223802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225433
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,363 (GRCm39) L690H probably damaging Het
Abtb3 C T 10: 85,397,392 (GRCm39) H442Y probably damaging Het
Acaa1b A G 9: 118,985,709 (GRCm39) V72A probably benign Het
Actl7a T C 4: 56,744,295 (GRCm39) L274P possibly damaging Het
Ankrd50 T C 3: 38,508,299 (GRCm39) E433G probably damaging Het
Ano6 A G 15: 95,811,260 (GRCm39) D120G probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Canx A G 11: 50,195,301 (GRCm39) S256P probably benign Het
Caps2 A G 10: 112,036,637 (GRCm39) H399R probably benign Het
Col6a6 A C 9: 105,659,373 (GRCm39) L524R probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dglucy A T 12: 100,816,375 (GRCm39) N339I probably damaging Het
Dhrs4 G T 14: 55,716,362 (GRCm39) M1I probably null Het
Disp1 A T 1: 182,869,315 (GRCm39) L1035Q probably damaging Het
Ephb1 T C 9: 102,071,999 (GRCm39) E260G probably damaging Het
Fetub T A 16: 22,754,443 (GRCm39) C217S probably damaging Het
Firrm T C 1: 163,784,457 (GRCm39) I779M probably damaging Het
Frem2 T C 3: 53,479,781 (GRCm39) S1971G probably damaging Het
Gria2 A G 3: 80,648,311 (GRCm39) Y142H possibly damaging Het
Hivep1 C T 13: 42,311,971 (GRCm39) H1404Y probably damaging Het
Il21r A G 7: 125,231,441 (GRCm39) K290E probably damaging Het
Inpp5f C G 7: 128,292,394 (GRCm39) L17V probably damaging Het
Kcnh3 A G 15: 99,130,646 (GRCm39) N421S possibly damaging Het
Krt33a A C 11: 99,904,991 (GRCm39) C172G probably benign Het
Lrp6 A T 6: 134,484,410 (GRCm39) H404Q probably damaging Het
Macf1 T C 4: 123,367,295 (GRCm39) T924A probably benign Het
Mepe C A 5: 104,485,294 (GRCm39) H145N probably benign Het
Mesp2 T G 7: 79,462,542 (GRCm39) L366R possibly damaging Het
Mink1 T A 11: 70,498,587 (GRCm39) L584Q probably damaging Het
Mroh7 T C 4: 106,561,407 (GRCm39) E612G probably benign Het
Myo15b G T 11: 115,754,239 (GRCm39) C913F probably benign Het
Nav1 A T 1: 135,378,368 (GRCm39) I1653K probably damaging Het
Neb T C 2: 52,167,482 (GRCm39) E1948G probably damaging Het
Nelfcd T C 2: 174,264,798 (GRCm39) V179A possibly damaging Het
Obscn C T 11: 58,973,487 (GRCm39) C2157Y probably damaging Het
Or8i2 A T 2: 86,852,707 (GRCm39) Y60* probably null Het
Orc1 C T 4: 108,471,656 (GRCm39) A836V probably damaging Het
Pcdhb6 G T 18: 37,469,259 (GRCm39) V43L probably benign Het
Prkcd G T 14: 30,321,669 (GRCm39) D393E probably benign Het
Rb1cc1 G C 1: 6,340,914 (GRCm39) probably null Het
Rp1 T A 1: 4,419,988 (GRCm39) T375S probably benign Het
Slc9c1 A T 16: 45,400,582 (GRCm39) M731L probably benign Het
Sox21 A T 14: 118,472,842 (GRCm39) M69K probably benign Het
Spata18 A T 5: 73,824,193 (GRCm39) probably null Het
Taok1 A G 11: 77,432,636 (GRCm39) F726L probably benign Het
Ttn G A 2: 76,575,558 (GRCm39) P25112S probably damaging Het
Ubac1 C T 2: 25,904,953 (GRCm39) R95H probably damaging Het
Usp32 A G 11: 84,933,389 (GRCm39) Y40H probably damaging Het
Usp37 A T 1: 74,532,145 (GRCm39) S83T possibly damaging Het
Vps13d A G 4: 144,802,296 (GRCm39) I405T 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
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
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'- GCTCCCAAGTAGGAACCTGTAG -3'
(R):5'- ATTGGTCATCCTACATTCAAACACC -3'

Sequencing Primer
(F):5'- TCCCAAGTAGGAACCTGTAGACATG -3'
(R):5'- TTCAGCAAGACCCAGGTTTG -3'
Posted On 2015-01-23