Incidental Mutation 'R3625:Mms22l'
ID 269367
Institutional Source Beutler Lab
Gene Symbol Mms22l
Ensembl Gene ENSMUSG00000045751
Gene Name MMS22-like, DNA repair protein
Synonyms F730047E07Rik
MMRRC Submission 040679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3625 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 24496451-24602950 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24505357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 206 (S206T)
Ref Sequence ENSEMBL: ENSMUSP00000057715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050446] [ENSMUST00000108222] [ENSMUST00000138567] [ENSMUST00000172622]
AlphaFold B1AUR6
Predicted Effect probably damaging
Transcript: ENSMUST00000050446
AA Change: S206T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751
AA Change: S206T

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: S206T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751
AA Change: S206T

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
Predicted Effect probably benign
Transcript: ENSMUST00000138567
SMART Domains Protein: ENSMUSP00000134736
Gene: ENSMUSG00000045751

DomainStartEndE-ValueType
Pfam:MMS22L_N 26 202 3e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154349
Predicted Effect probably damaging
Transcript: ENSMUST00000172622
AA Change: S134T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133658
Gene: ENSMUSG00000045751
AA Change: S134T

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 0.2997 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,425,591 (GRCm39) V80A possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg3 T A 16: 44,995,624 (GRCm39) I119N probably benign Het
Cdh12 G C 15: 21,358,842 (GRCm39) V89L probably damaging Het
Cdh3 C A 8: 107,270,310 (GRCm39) H396N probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dab2ip C A 2: 35,533,903 (GRCm39) S43* probably null Het
Dmxl2 A G 9: 54,300,927 (GRCm39) S2394P probably benign Het
F13a1 T G 13: 37,082,067 (GRCm39) N546H probably benign Het
Fbn2 T C 18: 58,194,814 (GRCm39) N1449S probably damaging Het
Flywch1 T C 17: 23,979,175 (GRCm39) probably benign Het
Grxcr2 T A 18: 42,131,883 (GRCm39) D62V probably damaging Het
H2bc8 T C 13: 23,755,625 (GRCm39) probably benign Het
Ifnab A T 4: 88,609,016 (GRCm39) I150N probably damaging Het
Igsf8 T C 1: 172,145,336 (GRCm39) V284A probably benign Het
Kdm1a T C 4: 136,288,419 (GRCm39) E388G possibly damaging Het
Map3k8 G A 18: 4,333,965 (GRCm39) R376C probably damaging Het
Map6 A T 7: 98,918,402 (GRCm39) T189S possibly damaging Het
N4bp1 A G 8: 87,578,337 (GRCm39) L676S probably damaging Het
Nkx6-2 A G 7: 139,162,106 (GRCm39) F117S possibly damaging Het
Ociad2 C T 5: 73,481,173 (GRCm39) C72Y probably damaging Het
Or10w1 T A 19: 13,632,346 (GRCm39) C184* probably null Het
Or52e15 A T 7: 104,645,191 (GRCm39) F307I probably benign Het
Pcdhb6 G T 18: 37,469,193 (GRCm39) V21L probably damaging Het
Pogk G A 1: 166,231,081 (GRCm39) T82I probably damaging Het
Pramel51 T C 12: 88,142,731 (GRCm39) S296G probably benign Het
Prkcsh A G 9: 21,922,548 (GRCm39) E283G probably null Het
Prkd3 C T 17: 79,292,733 (GRCm39) R113H probably damaging Het
Rabgef1 T C 5: 130,240,961 (GRCm39) probably null Het
Rec8 T C 14: 55,859,954 (GRCm39) I234T possibly damaging Het
Sim1 A T 10: 50,857,432 (GRCm39) H394L probably benign Het
Thy1 A G 9: 43,958,028 (GRCm39) E52G probably damaging Het
Trav14n-3 A T 14: 53,607,543 (GRCm39) I4F probably damaging Het
Trim15 T C 17: 37,177,768 (GRCm39) T76A possibly damaging Het
Ttn A G 2: 76,599,145 (GRCm39) I19288T probably damaging Het
Vmn1r6 C T 6: 56,979,920 (GRCm39) T172I probably damaging Het
Vmn2r52 A T 7: 9,893,105 (GRCm39) L678Q probably damaging Het
Vpreb1a T C 16: 16,686,668 (GRCm39) H74R probably benign Het
Yeats4 T C 10: 117,056,273 (GRCm39) I100V probably benign Het
Zfp36 C A 7: 28,077,681 (GRCm39) A76S 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
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
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'- CAGCCATCTCAAGTGTGTGC -3'
(R):5'- AATGATACATGGACACCTTGGG -3'

Sequencing Primer
(F):5'- CTCAAGTGTGTGCCTGTATTAAAC -3'
(R):5'- CATATAATCCAGGGTGGCCTCATG -3'
Posted On 2015-02-19