Incidental Mutation 'IGL03006:Mms22l'
ID 407538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mms22l
Ensembl Gene ENSMUSG00000045751
Gene Name MMS22-like, DNA repair protein
Synonyms F730047E07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03006
Quality Score
Status
Chromosome 4
Chromosomal Location 24496451-24602950 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24521253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 267 (S267P)
Ref Sequence ENSEMBL: ENSMUSP00000133658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050446] [ENSMUST00000108222] [ENSMUST00000172622]
AlphaFold B1AUR6
Predicted Effect probably damaging
Transcript: ENSMUST00000050446
AA Change: S377P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751
AA Change: S377P

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: S377P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751
AA Change: S377P

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 unknown
Transcript: ENSMUST00000131282
AA Change: S105P
SMART Domains Protein: ENSMUSP00000133800
Gene: ENSMUSG00000045751
AA Change: S105P

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 noncoding transcript
Transcript: ENSMUST00000154349
Predicted Effect probably damaging
Transcript: ENSMUST00000172622
AA Change: S267P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133658
Gene: ENSMUSG00000045751
AA Change: S267P

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
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,718,671 (GRCm39) S21C probably damaging Het
2210408I21Rik T C 13: 77,471,891 (GRCm39) probably null Het
Abcc3 T C 11: 94,259,421 (GRCm39) D340G probably benign Het
Adamts17 G T 7: 66,728,095 (GRCm39) R879L possibly damaging Het
Adissp A C 2: 130,993,634 (GRCm39) D22E probably damaging Het
Cacna1f C A X: 7,493,142 (GRCm39) T1275K probably damaging Het
Csmd2 T A 4: 128,374,558 (GRCm39) probably benign Het
Dll1 C T 17: 15,593,854 (GRCm39) R171Q probably benign Het
Dnm1 T A 2: 32,243,133 (GRCm39) D30V possibly damaging Het
Fam184a G A 10: 53,574,793 (GRCm39) S216L probably damaging Het
Fbxo33 G A 12: 59,251,105 (GRCm39) A470V probably benign Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Ighv7-1 A T 12: 113,860,145 (GRCm39) S82R probably damaging Het
Klk1b4 A G 7: 43,861,019 (GRCm39) I221V probably benign Het
Lama3 T C 18: 12,601,425 (GRCm39) probably benign Het
Lrch1 A G 14: 75,051,060 (GRCm39) L359P probably damaging Het
Mapk8ip3 T C 17: 25,120,489 (GRCm39) T882A probably benign Het
Med12 C T X: 100,321,684 (GRCm39) R456W probably damaging Het
Mtpap G A 18: 4,375,721 (GRCm39) G34R possibly damaging Het
Nf1 G A 11: 79,436,257 (GRCm39) D1966N probably damaging Het
Nlrp9c G A 7: 26,071,507 (GRCm39) T867I probably damaging Het
Nrap C T 19: 56,335,596 (GRCm39) V941I probably benign Het
Or5k1b T A 16: 58,581,511 (GRCm39) K9N probably benign Het
Pcdh10 A G 3: 45,333,937 (GRCm39) I84V probably damaging Het
Polr3d T A 14: 70,678,603 (GRCm39) probably null Het
Prkar2a G T 9: 108,617,640 (GRCm39) V233L probably benign Het
Prl4a1 T C 13: 28,207,359 (GRCm39) V211A probably damaging Het
Qpct T C 17: 79,378,151 (GRCm39) V107A probably benign Het
Rai1 T C 11: 60,079,031 (GRCm39) S1032P possibly damaging Het
Rims1 G T 1: 22,367,178 (GRCm39) T1113K probably damaging Het
Rxra C T 2: 27,649,657 (GRCm39) T454I probably damaging Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Scp2 T C 4: 107,948,477 (GRCm39) K167E probably benign Het
Sephs2 A G 7: 126,872,206 (GRCm39) F296L probably benign Het
Setd1b A G 5: 123,286,514 (GRCm39) E520G unknown Het
Slc28a2 G A 2: 122,283,019 (GRCm39) V308M possibly damaging Het
Smarcad1 T A 6: 65,060,873 (GRCm39) I451K probably benign Het
Tarbp1 C T 8: 127,170,881 (GRCm39) D1040N probably damaging Het
Tdrd6 T C 17: 43,936,323 (GRCm39) D1575G probably damaging Het
Tll1 T A 8: 64,527,251 (GRCm39) probably benign Het
Tsks A T 7: 44,600,198 (GRCm39) probably benign Het
Ttc1 A T 11: 43,636,147 (GRCm39) M32K probably benign Het
Txlnb C T 10: 17,714,723 (GRCm39) A385V probably damaging Het
Zc4h2 T C X: 94,687,019 (GRCm39) H98R probably damaging 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
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
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
Posted On 2016-08-02