Incidental Mutation 'IGL02124:Mtss1l'
ID280760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtss1l
Ensembl Gene ENSMUSG00000033763
Gene Namemetastasis suppressor 1-like
SynonymsABBA
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02124
Quality Score
Status
Chromosome8
Chromosomal Location110721476-110741400 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 110737624 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 295 (R295Q)
Ref Sequence ENSEMBL: ENSMUSP00000115220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052457] [ENSMUST00000076846] [ENSMUST00000144041] [ENSMUST00000150680]
Predicted Effect probably damaging
Transcript: ENSMUST00000052457
AA Change: R357Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
AA Change: R357Q

DomainStartEndE-ValueType
Pfam:IMD 15 236 8.1e-108 PFAM
low complexity region 252 274 N/A INTRINSIC
low complexity region 284 295 N/A INTRINSIC
low complexity region 312 330 N/A INTRINSIC
low complexity region 368 386 N/A INTRINSIC
low complexity region 429 442 N/A INTRINSIC
low complexity region 546 562 N/A INTRINSIC
low complexity region 668 690 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076846
SMART Domains Protein: ENSMUSP00000076120
Gene: ENSMUSG00000031750

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:IL34 28 184 2e-79 PFAM
low complexity region 219 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133848
Predicted Effect probably damaging
Transcript: ENSMUST00000141302
AA Change: R274Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116518
Gene: ENSMUSG00000033763
AA Change: R274Q

DomainStartEndE-ValueType
Pfam:IMD 1 122 1e-56 PFAM
low complexity region 138 179 N/A INTRINSIC
low complexity region 202 213 N/A INTRINSIC
low complexity region 230 248 N/A INTRINSIC
low complexity region 286 304 N/A INTRINSIC
low complexity region 347 360 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000144041
AA Change: R295Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
AA Change: R295Q

DomainStartEndE-ValueType
Pfam:IMD 1 174 3.6e-72 PFAM
low complexity region 190 212 N/A INTRINSIC
low complexity region 222 233 N/A INTRINSIC
low complexity region 250 268 N/A INTRINSIC
low complexity region 306 324 N/A INTRINSIC
low complexity region 367 380 N/A INTRINSIC
low complexity region 484 500 N/A INTRINSIC
low complexity region 606 628 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149273
AA Change: R279Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000119495
Gene: ENSMUSG00000033763
AA Change: R279Q

DomainStartEndE-ValueType
Pfam:IMD 1 126 2.5e-59 PFAM
low complexity region 142 183 N/A INTRINSIC
low complexity region 206 217 N/A INTRINSIC
low complexity region 239 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150680
SMART Domains Protein: ENSMUSP00000114398
Gene: ENSMUSG00000031750

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:IL34 23 155 4.6e-64 PFAM
low complexity region 197 208 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154803
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T C 2: 127,186,734 R182G possibly damaging Het
Casd1 A T 6: 4,624,142 I312F probably benign Het
Cdc27 T C 11: 104,522,731 T395A probably damaging Het
Cep152 A G 2: 125,563,461 I1717T probably benign Het
Ces1f A T 8: 93,265,860 V321E possibly damaging Het
Chrnb3 T C 8: 27,396,804 probably benign Het
Col14a1 T A 15: 55,463,703 F1416L unknown Het
Cplx4 T C 18: 65,970,052 probably benign Het
Cubn A T 2: 13,381,837 I1539N probably damaging Het
Dapk1 A G 13: 60,730,882 T562A probably benign Het
Dnmt1 C A 9: 20,908,549 V1433F probably damaging Het
Dytn A G 1: 63,641,092 L436P probably damaging Het
Evpl T C 11: 116,227,015 I783V probably benign Het
Fat4 T A 3: 38,888,404 V482E probably damaging Het
Fcrlb T A 1: 170,907,358 E400V probably benign Het
Folh1 T C 7: 86,725,418 D656G probably damaging Het
Frem3 A C 8: 80,613,094 D672A probably damaging Het
G3bp2 A G 5: 92,073,247 M3T possibly damaging Het
Gm973 C T 1: 59,582,473 Q26* probably null Het
Hsp90b1 T C 10: 86,705,358 probably benign Het
Hspg2 G A 4: 137,518,814 probably null Het
Lpin3 T C 2: 160,895,833 probably null Het
Muc5b G T 7: 141,855,632 W1151L unknown Het
Myo3a A G 2: 22,577,526 Y264C probably benign Het
Olfr1230 A G 2: 89,297,063 V69A probably benign Het
Olfr484 T A 7: 108,125,042 I74L probably benign Het
Olfr543 T C 7: 102,477,535 T112A possibly damaging Het
Pecam1 C T 11: 106,690,981 G380S probably damaging Het
Phf21a C T 2: 92,349,422 T345I probably damaging Het
Polg G A 7: 79,459,737 S444L probably damaging Het
Prickle1 A G 15: 93,503,146 Y486H probably damaging Het
Scg5 G A 2: 113,792,037 probably benign Het
Sept5 G T 16: 18,624,829 D123E probably damaging Het
Skint6 G A 4: 113,087,796 T483I probably benign Het
Tep1 A T 14: 50,854,124 probably benign Het
Tepsin T C 11: 120,091,721 R440G probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trpm4 A T 7: 45,310,523 V649E probably damaging Het
Usf3 C A 16: 44,219,656 Q1500K possibly damaging Het
Vmn1r231 T C 17: 20,890,306 S116G probably damaging Het
Vmn1r45 T A 6: 89,933,053 I312L probably benign Het
Other mutations in Mtss1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0620:Mtss1l UTSW 8 110737948 missense probably damaging 0.98
R0685:Mtss1l UTSW 8 110727397 critical splice donor site probably null
R2082:Mtss1l UTSW 8 110726257 critical splice donor site probably null
R2149:Mtss1l UTSW 8 110726383 missense possibly damaging 0.58
R2266:Mtss1l UTSW 8 110728730 missense possibly damaging 0.80
R2267:Mtss1l UTSW 8 110728730 missense possibly damaging 0.80
R2269:Mtss1l UTSW 8 110728730 missense possibly damaging 0.80
R2378:Mtss1l UTSW 8 110738349 missense probably damaging 1.00
R3756:Mtss1l UTSW 8 110730060 missense probably damaging 1.00
R4005:Mtss1l UTSW 8 110739041 frame shift probably null
R4552:Mtss1l UTSW 8 110738505 missense probably damaging 1.00
R4553:Mtss1l UTSW 8 110738505 missense probably damaging 1.00
R4849:Mtss1l UTSW 8 110726243 missense possibly damaging 0.92
R5212:Mtss1l UTSW 8 110729218 missense probably damaging 1.00
R6294:Mtss1l UTSW 8 110727328 missense possibly damaging 0.89
R6336:Mtss1l UTSW 8 110732164 missense probably damaging 1.00
R7090:Mtss1l UTSW 8 110730024 missense probably damaging 1.00
R7580:Mtss1l UTSW 8 110737636 missense possibly damaging 0.95
R7581:Mtss1l UTSW 8 110726213 missense possibly damaging 0.92
R7810:Mtss1l UTSW 8 110726201 missense probably damaging 0.99
Posted On2015-04-16