Incidental Mutation 'IGL01122:Sfmbt1'
ID52705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfmbt1
Ensembl Gene ENSMUSG00000006527
Gene NameScm-like with four mbt domains 1
Synonyms4930442N21Rik, 9330180L21Rik, Smr
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.742) question?
Stock #IGL01122
Quality Score
Status
Chromosome14
Chromosomal Location30714849-30822721 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30810311 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 543 (I543V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054230] [ENSMUST00000112184] [ENSMUST00000227201] [ENSMUST00000227303] [ENSMUST00000228006]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054230
AA Change: I543V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: I543V

DomainStartEndE-ValueType
MBT 20 120 2.04e-40 SMART
MBT 128 232 4.22e-33 SMART
MBT 242 346 4.42e-36 SMART
MBT 354 451 7.06e-44 SMART
Pfam:DUF3588 498 617 6.7e-43 PFAM
low complexity region 628 642 N/A INTRINSIC
low complexity region 659 669 N/A INTRINSIC
low complexity region 693 749 N/A INTRINSIC
SAM 790 856 1.12e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112177
AA Change: I543V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: I543V

DomainStartEndE-ValueType
MBT 20 120 2.04e-40 SMART
MBT 128 232 4.22e-33 SMART
MBT 242 346 4.42e-36 SMART
MBT 354 451 7.06e-44 SMART
Pfam:DUF3588 498 617 6.7e-43 PFAM
low complexity region 628 642 N/A INTRINSIC
low complexity region 659 669 N/A INTRINSIC
low complexity region 693 749 N/A INTRINSIC
SAM 790 856 1.12e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112184
AA Change: I543V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: I543V

DomainStartEndE-ValueType
MBT 20 120 2.04e-40 SMART
MBT 128 232 4.22e-33 SMART
MBT 242 346 4.42e-36 SMART
MBT 354 451 7.06e-44 SMART
Pfam:DUF3588 499 614 3.1e-41 PFAM
low complexity region 628 642 N/A INTRINSIC
low complexity region 659 669 N/A INTRINSIC
low complexity region 693 749 N/A INTRINSIC
SAM 790 856 1.12e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131706
AA Change: I543V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117866
Gene: ENSMUSG00000006527
AA Change: I543V

DomainStartEndE-ValueType
MBT 20 120 2.04e-40 SMART
MBT 128 232 4.22e-33 SMART
MBT 242 346 4.42e-36 SMART
MBT 354 451 7.06e-44 SMART
Pfam:DUF3588 498 617 7.3e-43 PFAM
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000227201
AA Change: I543V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227303
AA Change: I543V

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228006
AA Change: I543V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap6 A T X: 169,246,670 K142N possibly damaging Het
Atp13a1 T A 8: 69,798,905 L540Q probably damaging Het
C530008M17Rik T C 5: 76,870,675 *1289Q probably null Het
Cacna1a T C 8: 84,614,793 probably null Het
Cops6 A G 5: 138,162,373 K129E probably benign Het
Cyp11a1 T C 9: 58,016,306 I98T probably damaging Het
Cyp2c65 A G 19: 39,072,177 probably null Het
Dapl1 A T 2: 59,494,495 K30I probably damaging Het
Dlg2 A G 7: 92,442,608 M894V possibly damaging Het
Eme2 C T 17: 24,893,346 A202T possibly damaging Het
Fbxw22 A T 9: 109,386,671 S170T probably damaging Het
Gm13078 A G 4: 143,728,401 D423G probably benign Het
Havcr2 A G 11: 46,456,427 Y77C probably damaging Het
Ivd T A 2: 118,876,880 probably benign Het
Map3k9 T C 12: 81,732,126 D471G possibly damaging Het
Med12 T C X: 101,281,543 probably benign Het
Megf6 C T 4: 154,253,807 R445W probably damaging Het
Mptx1 A G 1: 174,332,398 Y90C probably damaging Het
Nek1 G A 8: 61,120,966 V1083I possibly damaging Het
Nepn T A 10: 52,391,815 I59N probably damaging Het
Olfr1245 A G 2: 89,575,423 I101T possibly damaging Het
Pbdc1 T C X: 105,082,691 probably benign Het
Phlpp1 G T 1: 106,173,436 R478L possibly damaging Het
Ppp2r3a A G 9: 101,211,645 L493P probably benign Het
Ppp2r3c C T 12: 55,297,802 G127D probably benign Het
Psap T C 10: 60,299,474 V303A probably benign Het
Rdh13 T C 7: 4,442,695 K60R probably benign Het
Scaf4 A G 16: 90,248,630 S528P unknown Het
Speg T C 1: 75,410,035 L1271P probably damaging Het
Stard9 C A 2: 120,698,479 T1739K possibly damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Tmprss11b G T 5: 86,663,517 T186K probably benign Het
U2surp G T 9: 95,490,234 Q291K probably benign Het
Ulk4 A G 9: 121,168,292 I738T possibly damaging Het
Urb1 A T 16: 90,804,458 S142T possibly damaging Het
Vmn2r112 T A 17: 22,603,007 I222N probably benign Het
Zmym4 T C 4: 126,864,252 N1503S probably damaging Het
Other mutations in Sfmbt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Sfmbt1 APN 14 30769820 missense probably benign 0.00
IGL01478:Sfmbt1 APN 14 30811521 missense probably damaging 1.00
IGL01632:Sfmbt1 APN 14 30817712 missense probably damaging 1.00
IGL02252:Sfmbt1 APN 14 30817733 missense probably damaging 1.00
IGL02456:Sfmbt1 APN 14 30785880 missense probably damaging 0.99
IGL02651:Sfmbt1 APN 14 30815537 missense probably damaging 1.00
IGL02967:Sfmbt1 APN 14 30816802 missense probably damaging 1.00
PIT4142001:Sfmbt1 UTSW 14 30816757 unclassified probably null
PIT4519001:Sfmbt1 UTSW 14 30784191 critical splice donor site probably null
PIT4531001:Sfmbt1 UTSW 14 30796326 missense probably benign 0.00
R0043:Sfmbt1 UTSW 14 30816807 missense probably damaging 0.99
R0389:Sfmbt1 UTSW 14 30811507 missense probably damaging 1.00
R0395:Sfmbt1 UTSW 14 30787617 splice site probably benign
R0562:Sfmbt1 UTSW 14 30811373 intron probably null
R1083:Sfmbt1 UTSW 14 30787541 missense possibly damaging 0.92
R1900:Sfmbt1 UTSW 14 30802567 missense probably damaging 1.00
R2447:Sfmbt1 UTSW 14 30773893 missense possibly damaging 0.62
R3104:Sfmbt1 UTSW 14 30817796 missense probably damaging 1.00
R3105:Sfmbt1 UTSW 14 30817796 missense probably damaging 1.00
R3106:Sfmbt1 UTSW 14 30817796 missense probably damaging 1.00
R4038:Sfmbt1 UTSW 14 30787492 missense probably damaging 1.00
R5118:Sfmbt1 UTSW 14 30790770 missense probably damaging 1.00
R5227:Sfmbt1 UTSW 14 30815254 critical splice donor site probably null
R5286:Sfmbt1 UTSW 14 30816820 missense probably damaging 1.00
R5287:Sfmbt1 UTSW 14 30816820 missense probably damaging 1.00
R5295:Sfmbt1 UTSW 14 30774029 missense probably damaging 1.00
R5620:Sfmbt1 UTSW 14 30784191 critical splice donor site probably null
R6113:Sfmbt1 UTSW 14 30815184 missense possibly damaging 0.68
R6139:Sfmbt1 UTSW 14 30811418 missense probably damaging 1.00
R6429:Sfmbt1 UTSW 14 30773911 missense probably damaging 1.00
R6657:Sfmbt1 UTSW 14 30766096 missense possibly damaging 0.50
R6955:Sfmbt1 UTSW 14 30766034 start gained probably benign
R6957:Sfmbt1 UTSW 14 30787589 missense probably benign 0.00
R7206:Sfmbt1 UTSW 14 30811373 intron probably null
R7337:Sfmbt1 UTSW 14 30784739 missense possibly damaging 0.62
R7451:Sfmbt1 UTSW 14 30816811 missense probably benign 0.02
R7684:Sfmbt1 UTSW 14 30810354 missense probably damaging 1.00
R7798:Sfmbt1 UTSW 14 30816802 missense probably damaging 1.00
X0064:Sfmbt1 UTSW 14 30815205 missense probably damaging 1.00
Posted On2013-06-21