Incidental Mutation 'R0279:Mms22l'
ID 24531
Institutional Source Beutler Lab
Gene Symbol Mms22l
Ensembl Gene ENSMUSG00000045751
Gene Name MMS22-like, DNA repair protein
Synonyms F730047E07Rik
MMRRC Submission 038501-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0279 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 24496451-24602950 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24497867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 63 (T63I)
Ref Sequence ENSEMBL: ENSMUSP00000134736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050446] [ENSMUST00000108222] [ENSMUST00000138567] [ENSMUST00000172622]
AlphaFold B1AUR6
Predicted Effect probably damaging
Transcript: ENSMUST00000050446
AA Change: T63I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751
AA Change: T63I

DomainStartEndE-ValueType
Pfam:MMS22L_N 26 395 1.1e-199 PFAM
Pfam:MMS22L_N 392 690 4.6e-155 PFAM
low complexity region 698 711 N/A INTRINSIC
low complexity region 761 770 N/A INTRINSIC
Pfam:MMS22L_C 809 1186 2.3e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108222
AA Change: T63I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751
AA Change: T63I

DomainStartEndE-ValueType
Pfam:MMS22L_N 26 730 N/A PFAM
low complexity region 738 751 N/A INTRINSIC
low complexity region 801 810 N/A INTRINSIC
Pfam:MMS22L_C 849 1225 1.4e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138567
AA Change: T63I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134736
Gene: ENSMUSG00000045751
AA Change: T63I

DomainStartEndE-ValueType
Pfam:MMS22L_N 26 202 3e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139050
Predicted Effect probably benign
Transcript: ENSMUST00000172622
SMART Domains Protein: ENSMUSP00000133658
Gene: ENSMUSG00000045751

DomainStartEndE-ValueType
Pfam:MMS22L_N 1 204 2.5e-112 PFAM
Pfam:MMS22L_N 202 323 2.2e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173079
Meta Mutation Damage Score 0.1487 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.6%
Validation Efficiency 99% (82/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants exist for this gene, but the full-length nature of only one has been determined to date. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation die prenatally. Heterozygous mice exhibit defects in pinna responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610528J11Rik A T 4: 118,386,490 (GRCm39) M1L probably benign Het
5730596B20Rik T A 6: 52,156,182 (GRCm39) probably benign Het
Acrbp T C 6: 125,030,917 (GRCm39) probably null Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Acss3 A G 10: 106,920,732 (GRCm39) I126T possibly damaging Het
Aff3 T C 1: 38,574,650 (GRCm39) E110G probably damaging Het
Aldh1a3 T C 7: 66,059,000 (GRCm39) I113V probably benign Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Atp2b4 A G 1: 133,657,440 (GRCm39) probably benign Het
Atp8a1 C T 5: 67,970,435 (GRCm39) probably null Het
Bhmt A G 13: 93,761,972 (GRCm39) C104R probably damaging Het
Cct5 T G 15: 31,591,177 (GRCm39) E508A probably damaging Het
Celsr1 T A 15: 85,787,065 (GRCm39) E2761D probably benign Het
Clstn1 T C 4: 149,728,131 (GRCm39) S600P probably damaging Het
Cnppd1 A G 1: 75,113,573 (GRCm39) S232P probably damaging Het
Crybb3 T C 5: 113,227,619 (GRCm39) probably null Het
Csmd1 A G 8: 16,273,249 (GRCm39) I861T probably damaging Het
Cyp2d10 A C 15: 82,289,540 (GRCm39) S191A possibly damaging Het
Ddx10 T C 9: 53,146,604 (GRCm39) D206G probably damaging Het
Dnah1 G T 14: 31,024,332 (GRCm39) H916N possibly damaging Het
Dnah9 A G 11: 65,802,615 (GRCm39) probably null Het
Epb42 G A 2: 120,859,525 (GRCm39) probably benign Het
Etnppl A G 3: 130,423,062 (GRCm39) R248G probably damaging Het
Eya3 T C 4: 132,446,558 (GRCm39) F369L probably damaging Het
Fam170b T C 14: 32,556,025 (GRCm39) probably benign Het
Fli1 A T 9: 32,372,723 (GRCm39) V105D probably damaging Het
Fmo1 T C 1: 162,657,841 (GRCm39) I433M possibly damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Foxe3 T C 4: 114,782,765 (GRCm39) D149G probably damaging Het
Gk5 T C 9: 96,056,857 (GRCm39) probably benign Het
Gm14226 A G 2: 154,867,372 (GRCm39) D443G possibly damaging Het
Gm9796 C T 11: 95,588,821 (GRCm39) noncoding transcript Het
Golga4 A T 9: 118,398,061 (GRCm39) R52S probably benign Het
Hey2 C A 10: 30,710,006 (GRCm39) C249F probably damaging Het
Ipo9 A T 1: 135,348,101 (GRCm39) probably benign Het
Ireb2 C A 9: 54,793,877 (GRCm39) T269K probably benign Het
Kansl3 A G 1: 36,391,050 (GRCm39) V274A probably damaging Het
Kcnk2 C T 1: 188,942,169 (GRCm39) A352T possibly damaging Het
Lamc2 T C 1: 153,006,442 (GRCm39) E903G probably benign Het
Lepr A G 4: 101,607,541 (GRCm39) K253R probably benign Het
Lmntd2 T C 7: 140,793,536 (GRCm39) probably benign Het
Lrrc39 A T 3: 116,371,952 (GRCm39) T240S probably benign Het
Lrrc43 A G 5: 123,635,085 (GRCm39) probably null Het
Maf T C 8: 116,432,495 (GRCm39) M370V possibly damaging Het
Mib2 G A 4: 155,745,673 (GRCm39) S46L possibly damaging Het
Morc2a T A 11: 3,633,989 (GRCm39) S700R probably benign Het
Mpz A G 1: 170,987,498 (GRCm39) probably benign Het
Ncam2 T C 16: 81,420,225 (GRCm39) probably benign Het
Niban1 T C 1: 151,584,957 (GRCm39) probably null Het
Nudt14 C T 12: 112,902,037 (GRCm39) A123T probably damaging Het
Odad3 A G 9: 21,901,543 (GRCm39) probably benign Het
Or10h1 C T 17: 33,418,298 (GRCm39) T92I probably benign Het
Or2a7 G A 6: 43,151,692 (GRCm39) M257I probably benign Het
Or9g20 A T 2: 85,629,879 (GRCm39) I245N possibly damaging Het
Otoa T C 7: 120,710,302 (GRCm39) probably benign Het
Pik3cg G A 12: 32,254,790 (GRCm39) T399I probably damaging Het
Pkn3 C T 2: 29,973,309 (GRCm39) A377V probably benign Het
Ppan A G 9: 20,802,825 (GRCm39) N327S probably benign Het
Prkca T C 11: 107,944,937 (GRCm39) probably benign Het
Prrc2c A T 1: 162,543,033 (GRCm39) V320E probably damaging Het
Ptprq A G 10: 107,444,278 (GRCm39) V1442A probably damaging Het
Rapgef1 C T 2: 29,616,239 (GRCm39) R834C probably damaging Het
Rbms1 G T 2: 60,672,754 (GRCm39) N44K probably damaging Het
Rfwd3 A C 8: 112,009,365 (GRCm39) F404V probably benign Het
Rimbp3 G T 16: 17,027,317 (GRCm39) R247L probably benign Het
Serpinb1b T C 13: 33,277,696 (GRCm39) S310P possibly damaging Het
Smtn C A 11: 3,480,235 (GRCm39) V329L probably damaging Het
Snapc2 T C 8: 4,304,979 (GRCm39) probably benign Het
Spam1 A T 6: 24,800,418 (GRCm39) M386L probably benign Het
Syne2 A G 12: 76,142,387 (GRCm39) E6208G probably damaging Het
Teddm1a T C 1: 153,768,369 (GRCm39) Y278H probably damaging Het
Tnfaip6 A T 2: 51,945,928 (GRCm39) N258I possibly damaging Het
Trpm4 C T 7: 44,971,472 (GRCm39) R188Q probably damaging Het
Ttbk2 A T 2: 120,579,441 (GRCm39) H491Q probably benign Het
Urgcp C T 11: 5,666,989 (GRCm39) E450K probably benign Het
Vmn1r228 T C 17: 20,996,637 (GRCm39) N294D probably benign Het
Wdfy3 A T 5: 102,015,958 (GRCm39) C2606S probably damaging Het
Wdr33 T A 18: 32,021,377 (GRCm39) H642Q unknown Het
Zbtb46 A G 2: 181,053,567 (GRCm39) S382P possibly damaging Het
Zfp217 A G 2: 169,961,700 (GRCm39) I209T probably benign Het
Zranb3 T A 1: 127,891,510 (GRCm39) N822I probably benign Het
Other mutations in Mms22l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01648:Mms22l APN 4 24,502,805 (GRCm39) missense probably damaging 1.00
IGL02158:Mms22l APN 4 24,505,349 (GRCm39) missense probably damaging 0.98
IGL02533:Mms22l APN 4 24,581,099 (GRCm39) splice site probably benign
IGL02612:Mms22l APN 4 24,508,482 (GRCm39) missense probably benign 0.03
IGL02685:Mms22l APN 4 24,591,133 (GRCm39) missense probably benign
IGL03000:Mms22l APN 4 24,581,161 (GRCm39) missense probably damaging 0.99
IGL03006:Mms22l APN 4 24,521,253 (GRCm39) missense probably damaging 1.00
PIT4280001:Mms22l UTSW 4 24,581,149 (GRCm39) missense probably benign 0.08
R0157:Mms22l UTSW 4 24,588,224 (GRCm39) missense probably damaging 1.00
R0669:Mms22l UTSW 4 24,517,223 (GRCm39) missense probably benign 0.00
R1056:Mms22l UTSW 4 24,586,344 (GRCm39) critical splice donor site probably null
R1232:Mms22l UTSW 4 24,536,274 (GRCm39) missense probably benign 0.24
R1389:Mms22l UTSW 4 24,591,076 (GRCm39) missense probably damaging 1.00
R1543:Mms22l UTSW 4 24,591,084 (GRCm39) missense probably benign 0.41
R1604:Mms22l UTSW 4 24,502,804 (GRCm39) missense probably damaging 1.00
R1872:Mms22l UTSW 4 24,598,807 (GRCm39) missense probably damaging 0.99
R1929:Mms22l UTSW 4 24,535,936 (GRCm39) unclassified probably benign
R2024:Mms22l UTSW 4 24,588,365 (GRCm39) missense probably damaging 1.00
R2081:Mms22l UTSW 4 24,536,150 (GRCm39) missense probably damaging 1.00
R2104:Mms22l UTSW 4 24,591,084 (GRCm39) missense probably benign 0.41
R2147:Mms22l UTSW 4 24,580,063 (GRCm39) nonsense probably null
R2379:Mms22l UTSW 4 24,496,929 (GRCm39) missense possibly damaging 0.87
R2496:Mms22l UTSW 4 24,521,269 (GRCm39) missense probably benign 0.31
R3508:Mms22l UTSW 4 24,586,224 (GRCm39) missense probably benign 0.01
R3625:Mms22l UTSW 4 24,505,357 (GRCm39) missense probably damaging 1.00
R3789:Mms22l UTSW 4 24,517,115 (GRCm39) missense possibly damaging 0.75
R4422:Mms22l UTSW 4 24,503,008 (GRCm39) missense probably damaging 1.00
R4623:Mms22l UTSW 4 24,502,792 (GRCm39) nonsense probably null
R4799:Mms22l UTSW 4 24,580,052 (GRCm39) critical splice acceptor site probably null
R4825:Mms22l UTSW 4 24,536,226 (GRCm39) missense probably damaging 1.00
R5236:Mms22l UTSW 4 24,588,347 (GRCm39) missense probably benign 0.02
R5276:Mms22l UTSW 4 24,578,774 (GRCm39) missense probably damaging 1.00
R5364:Mms22l UTSW 4 24,496,882 (GRCm39) unclassified probably benign
R5394:Mms22l UTSW 4 24,517,115 (GRCm39) missense possibly damaging 0.75
R6905:Mms22l UTSW 4 24,503,107 (GRCm39) missense probably benign 0.00
R7206:Mms22l UTSW 4 24,591,146 (GRCm39) missense probably benign 0.00
R7290:Mms22l UTSW 4 24,517,139 (GRCm39) missense probably benign
R7425:Mms22l UTSW 4 24,596,287 (GRCm39) missense probably benign 0.15
R7524:Mms22l UTSW 4 24,536,138 (GRCm39) missense possibly damaging 0.89
R7536:Mms22l UTSW 4 24,581,240 (GRCm39) missense probably damaging 0.99
R7722:Mms22l UTSW 4 24,517,201 (GRCm39) missense probably damaging 1.00
R7757:Mms22l UTSW 4 24,598,884 (GRCm39) critical splice donor site probably null
R7764:Mms22l UTSW 4 24,598,842 (GRCm39) missense probably damaging 1.00
R7947:Mms22l UTSW 4 24,505,373 (GRCm39) missense probably damaging 1.00
R8220:Mms22l UTSW 4 24,536,375 (GRCm39) missense probably damaging 1.00
R8316:Mms22l UTSW 4 24,578,855 (GRCm39) missense probably damaging 0.98
R8472:Mms22l UTSW 4 24,502,943 (GRCm39) missense possibly damaging 0.86
R8495:Mms22l UTSW 4 24,496,908 (GRCm39) start codon destroyed probably null 0.96
R8699:Mms22l UTSW 4 24,507,363 (GRCm39) missense possibly damaging 0.72
R8795:Mms22l UTSW 4 24,536,245 (GRCm39) missense probably benign 0.21
R8932:Mms22l UTSW 4 24,533,029 (GRCm39) missense probably damaging 1.00
R8979:Mms22l UTSW 4 24,580,070 (GRCm39) missense probably benign 0.01
R8996:Mms22l UTSW 4 24,598,884 (GRCm39) critical splice donor site probably null
R9184:Mms22l UTSW 4 24,596,182 (GRCm39) missense probably damaging 1.00
R9194:Mms22l UTSW 4 24,600,185 (GRCm39) nonsense probably null
R9204:Mms22l UTSW 4 24,581,153 (GRCm39) missense probably damaging 1.00
R9258:Mms22l UTSW 4 24,588,238 (GRCm39) missense probably damaging 1.00
R9266:Mms22l UTSW 4 24,578,878 (GRCm39) missense probably damaging 1.00
R9403:Mms22l UTSW 4 24,580,204 (GRCm39) critical splice donor site probably null
R9788:Mms22l UTSW 4 24,586,204 (GRCm39) missense probably benign 0.08
RF005:Mms22l UTSW 4 24,517,207 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GTTCTTTCCATCCAAAGCATCGGC -3'
(R):5'- GTGTTTCCTGGTAAGACCACCAGC -3'

Sequencing Primer
(F):5'- ATGTGTTTGTGCGCGTCATC -3'
(R):5'- AGAGCAATTTCCCTGCTTTTGTAATC -3'
Posted On 2013-04-16