Incidental Mutation 'R7757:Mms22l'
ID 597593
Institutional Source Beutler Lab
Gene Symbol Mms22l
Ensembl Gene ENSMUSG00000045751
Gene Name MMS22-like, DNA repair protein
Synonyms F730047E07Rik
MMRRC Submission 045813-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7757 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 24496451-24602950 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 24598884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000057715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050446] [ENSMUST00000108222]
AlphaFold B1AUR6
Predicted Effect probably null
Transcript: ENSMUST00000050446
SMART Domains Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751

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 null
Transcript: ENSMUST00000108222
SMART Domains Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751

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 benign
Transcript: ENSMUST00000131282
SMART Domains Protein: ENSMUSP00000133800
Gene: ENSMUSG00000045751

DomainStartEndE-ValueType
Pfam:MMS22L_N 1 459 1.3e-239 PFAM
low complexity region 467 480 N/A INTRINSIC
low complexity region 530 539 N/A INTRINSIC
Pfam:MMS22L_C 578 733 1.9e-58 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (70/73)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,236,187 (GRCm39) M1179I probably benign Het
6430550D23Rik T C 2: 155,845,351 (GRCm39) T18A possibly damaging Het
Acox2 T C 14: 8,230,166 (GRCm38) N659S probably damaging Het
Agk T C 6: 40,353,212 (GRCm39) V192A possibly damaging Het
Ap3b1 T A 13: 94,664,666 (GRCm39) probably null Het
Bche T A 3: 73,608,454 (GRCm39) D324V probably damaging Het
Bsn A G 9: 107,991,939 (GRCm39) I1271T possibly damaging Het
Capn12 T C 7: 28,582,246 (GRCm39) L120P probably damaging Het
Cep290 T A 10: 100,399,296 (GRCm39) S2273T probably benign Het
Ckap4 T C 10: 84,364,331 (GRCm39) E244G probably damaging Het
Clcn7 T C 17: 25,375,796 (GRCm39) Y545H probably damaging Het
Cmya5 T A 13: 93,234,780 (GRCm39) T103S possibly damaging Het
Cplane1 A T 15: 8,281,711 (GRCm39) E2850V unknown Het
Cpne9 G A 6: 113,261,406 (GRCm39) V121M possibly damaging Het
Csmd2 T A 4: 128,377,249 (GRCm39) I2043N Het
Disc1 A G 8: 125,814,243 (GRCm39) T36A probably benign Het
Disp2 T C 2: 118,621,391 (GRCm39) Y708H probably damaging Het
Dnah3 A G 7: 119,670,793 (GRCm39) V635A probably benign Het
Dnah3 A T 7: 119,570,438 (GRCm39) probably null Het
Dync1li1 A G 9: 114,538,345 (GRCm39) H234R possibly damaging Het
Egfr T C 11: 16,839,966 (GRCm39) V660A possibly damaging Het
Epb42 T C 2: 120,858,200 (GRCm39) R253G possibly damaging Het
Fat2 T A 11: 55,202,247 (GRCm39) T276S probably benign Het
Fcho2 A G 13: 98,901,011 (GRCm39) probably null Het
Ginm1 A T 10: 7,655,119 (GRCm39) I41N probably damaging Het
Gm4744 A G 6: 40,927,367 (GRCm39) probably benign Het
Gm49368 C T 7: 127,711,398 (GRCm39) R701C probably damaging Het
Gpr37 T A 6: 25,688,207 (GRCm39) I297F probably benign Het
Gprc5a T A 6: 135,056,342 (GRCm39) I263N possibly damaging Het
Gys2 A T 6: 142,400,177 (GRCm39) S345T probably benign Het
Hk2 T C 6: 82,719,896 (GRCm39) M255V possibly damaging Het
Ibtk A C 9: 85,579,290 (GRCm39) S1202A possibly damaging Het
Il23r T G 6: 67,400,965 (GRCm39) D455A probably benign Het
Irs2 T A 8: 11,056,522 (GRCm39) K637* probably null Het
Jak2 T C 19: 29,260,946 (GRCm39) V314A probably benign Het
Mei1 C T 15: 81,966,824 (GRCm39) probably benign Het
Mill1 T C 7: 17,996,391 (GRCm39) M69T probably benign Het
Mup8 C A 4: 60,220,332 (GRCm39) Q133H probably benign Het
Mup8 T A 4: 60,220,333 (GRCm39) Q133L probably benign Het
Mycbp2 A T 14: 103,429,055 (GRCm39) Y2374N probably damaging Het
Nbeal1 A T 1: 60,296,609 (GRCm39) K1166N probably damaging Het
Nlrc4 T A 17: 74,755,191 (GRCm39) R8S probably benign Het
Nrcam C T 12: 44,596,681 (GRCm39) Q25* probably null Het
Nudt16 A C 9: 105,008,760 (GRCm39) M47R probably damaging Het
Nup62 T C 7: 44,478,419 (GRCm39) S145P probably benign Het
Or10d1 A G 9: 39,483,761 (GRCm39) W265R probably benign Het
Or4c117 T C 2: 88,955,333 (GRCm39) I247M possibly damaging Het
Osbpl1a A T 18: 13,066,657 (GRCm39) V34D probably benign Het
Otogl T A 10: 107,712,782 (GRCm39) N521Y probably damaging Het
Pcdhb14 T A 18: 37,582,887 (GRCm39) D664E possibly damaging Het
Pex5l T C 3: 33,136,300 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,632,639 (GRCm39) L592P probably damaging Het
Plxdc2 A G 2: 16,734,187 (GRCm39) H480R probably benign Het
Rnf216 T A 5: 143,065,991 (GRCm39) K532N probably damaging Het
Schip1 C A 3: 68,525,028 (GRCm39) Q358K probably damaging Het
Sdc2 A T 15: 33,028,233 (GRCm39) E117V possibly damaging Het
Septin11 A T 5: 93,319,323 (GRCm39) probably null Het
Shprh A T 10: 11,037,924 (GRCm39) E420V probably benign Het
Ska1 T A 18: 74,330,044 (GRCm39) H232L probably benign Het
Slc36a4 A G 9: 15,630,956 (GRCm39) N25S possibly damaging Het
Slitrk3 G A 3: 72,958,172 (GRCm39) T200M probably damaging Het
Smad2 C T 18: 76,421,084 (GRCm39) H138Y probably benign Het
Snx21 T C 2: 164,628,085 (GRCm39) S34P probably damaging Het
Sos2 A G 12: 69,695,359 (GRCm39) V126A probably damaging Het
Srcap C T 7: 127,129,966 (GRCm39) T596I probably damaging Het
Stk31 T G 6: 49,383,877 (GRCm39) probably null Het
Stox1 T C 10: 62,499,743 (GRCm39) D939G probably damaging Het
Syne2 G T 12: 76,108,553 (GRCm39) C979F possibly damaging Het
Tanc2 C A 11: 105,667,684 (GRCm39) N88K possibly damaging Het
Tll2 A T 19: 41,084,447 (GRCm39) V677E probably damaging Het
Ttn T C 2: 76,748,834 (GRCm39) T4072A probably benign Het
Unc13b CAGAGC CAGAGCGAGAGC 4: 43,177,341 (GRCm39) probably benign Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unc13b AGAGCC AGAGCCCGAGCC 4: 43,177,330 (GRCm39) probably benign Het
Vmn2r43 A T 7: 8,258,253 (GRCm39) F320Y possibly damaging Het
Zscan4f G T 7: 11,135,205 (GRCm39) G204* probably null 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
R0279:Mms22l UTSW 4 24,497,867 (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
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'- CTAAAGGGAAAACATCTTCCTATGC -3'
(R):5'- TTTCCCACTGAAGACACAAGG -3'

Sequencing Primer
(F):5'- CCTATGCATTATTTCAGCTTTGAGAC -3'
(R):5'- GGCACGTTTACTTTTTCAACAAAGC -3'
Posted On 2019-11-26