Incidental Mutation 'IGL02420:Sufu'
ID 292637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sufu
Ensembl Gene ENSMUSG00000025231
Gene Name SUFU negative regulator of hedgehog signaling
Synonyms b2b273Clo, 2810026F04Rik, Su(Fu)
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02420
Quality Score
Status
Chromosome 19
Chromosomal Location 46385335-46477243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46413481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 76 (T76A)
Ref Sequence ENSEMBL: ENSMUSP00000112653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039922] [ENSMUST00000111867] [ENSMUST00000118440] [ENSMUST00000120778]
AlphaFold Q9Z0P7
Predicted Effect probably damaging
Transcript: ENSMUST00000039922
AA Change: T121A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
AA Change: T121A

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SUFU 63 242 2.9e-38 PFAM
Pfam:SUFU_C 252 473 1.6e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111867
AA Change: T121A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
AA Change: T121A

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SUFU 64 241 4.9e-54 PFAM
Pfam:SUFU_C 254 474 2.3e-89 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118440
AA Change: T121A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
AA Change: T121A

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SUFU 63 242 3.2e-38 PFAM
Pfam:SUFU_C 252 436 9.8e-78 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120778
AA Change: T76A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112653
Gene: ENSMUSG00000025231
AA Change: T76A

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SUFU 59 197 4.8e-30 PFAM
Pfam:SUFU_C 208 297 2e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon. [provided by MGI curators]
Allele List at MGI

All alleles(32) : Targeted(7) Gene trapped(25)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,187,494 (GRCm39) N136S probably damaging Het
Adcy8 A G 15: 64,659,303 (GRCm39) S496P probably damaging Het
Agbl3 T A 6: 34,762,242 (GRCm39) S81T possibly damaging Het
Apobec1 A T 6: 122,558,531 (GRCm39) Y75N probably benign Het
Asic2 A G 11: 80,772,479 (GRCm39) L517P probably benign Het
Atp8a1 A G 5: 67,840,126 (GRCm39) S752P probably damaging Het
Blm T C 7: 80,145,754 (GRCm39) Y775C probably damaging Het
C1qtnf5 T C 9: 44,019,901 (GRCm39) I175T probably benign Het
Ccdc81 G A 7: 89,524,946 (GRCm39) T545I probably benign Het
Ccdc88b T C 19: 6,834,317 (GRCm39) E174G probably damaging Het
Chl1 G A 6: 103,692,330 (GRCm39) V1066M probably damaging Het
Cntn6 T A 6: 104,823,103 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyren T C 6: 34,851,404 (GRCm39) Y150C probably damaging Het
Cysrt1 T C 2: 25,129,360 (GRCm39) I51V probably benign Het
Dnah7a T C 1: 53,725,702 (GRCm39) N69S probably benign Het
Fam83d T C 2: 158,627,655 (GRCm39) L448P probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Inppl1 G A 7: 101,481,526 (GRCm39) probably benign Het
Iqcc T C 4: 129,510,748 (GRCm39) T256A probably benign Het
Itprid2 T C 2: 79,465,986 (GRCm39) S35P probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Lyz1 A T 10: 117,124,535 (GRCm39) C134S probably damaging Het
Mpzl3 T C 9: 44,977,815 (GRCm39) I141T possibly damaging Het
Mterf1a T C 5: 3,941,047 (GRCm39) N274D probably damaging Het
Myo18a T A 11: 77,709,519 (GRCm39) V543D possibly damaging Het
Myo18b A T 5: 112,975,852 (GRCm39) D1332E possibly damaging Het
Or2r11 A G 6: 42,437,110 (GRCm39) V281A probably benign Het
Pcdh15 A T 10: 74,138,938 (GRCm39) D333V probably damaging Het
Plekha7 A G 7: 115,757,469 (GRCm39) Y494H probably damaging Het
Plekhg1 A G 10: 3,914,106 (GRCm39) N1276S probably damaging Het
Ppig T C 2: 69,562,571 (GRCm39) V5A probably benign Het
Prag1 A T 8: 36,614,580 (GRCm39) probably benign Het
Prom1 T C 5: 44,220,496 (GRCm39) N84S probably benign Het
Ptprh T A 7: 4,583,929 (GRCm39) Y221F probably damaging Het
Qsox2 A G 2: 26,110,731 (GRCm39) Y162H probably benign Het
Rab2a C T 4: 8,572,553 (GRCm39) T49M possibly damaging Het
Ring1 A G 17: 34,242,122 (GRCm39) S96P possibly damaging Het
Ripk3 A G 14: 56,022,691 (GRCm39) F411S probably benign Het
Rock1 T C 18: 10,070,619 (GRCm39) probably null Het
Rtn4rl1 A G 11: 75,156,645 (GRCm39) N359S probably damaging Het
Sugct C A 13: 17,627,053 (GRCm39) V267F probably damaging Het
Tcf4 A T 18: 69,697,210 (GRCm39) R29W probably damaging Het
Tnfsf18 A T 1: 161,331,158 (GRCm39) I103L probably benign Het
Vwf A G 6: 125,654,879 (GRCm39) E2525G probably benign Het
Other mutations in Sufu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Sufu APN 19 46,439,382 (GRCm39) missense probably damaging 1.00
IGL01613:Sufu APN 19 46,464,059 (GRCm39) missense probably damaging 1.00
IGL01652:Sufu APN 19 46,464,059 (GRCm39) missense probably damaging 1.00
IGL02501:Sufu APN 19 46,439,349 (GRCm39) missense probably benign 0.04
IGL02984:Sufu UTSW 19 46,462,038 (GRCm39) missense probably benign
P0018:Sufu UTSW 19 46,463,933 (GRCm39) splice site probably benign
R0172:Sufu UTSW 19 46,385,563 (GRCm39) missense possibly damaging 0.86
R0280:Sufu UTSW 19 46,439,112 (GRCm39) splice site probably benign
R1175:Sufu UTSW 19 46,389,703 (GRCm39) splice site probably null
R1295:Sufu UTSW 19 46,443,159 (GRCm39) splice site probably benign
R1296:Sufu UTSW 19 46,443,159 (GRCm39) splice site probably benign
R1420:Sufu UTSW 19 46,385,623 (GRCm39) missense probably benign 0.36
R1846:Sufu UTSW 19 46,439,386 (GRCm39) missense possibly damaging 0.47
R2061:Sufu UTSW 19 46,385,651 (GRCm39) missense probably damaging 1.00
R4082:Sufu UTSW 19 46,413,541 (GRCm39) missense probably damaging 0.99
R4151:Sufu UTSW 19 46,438,411 (GRCm39) critical splice donor site probably null
R4744:Sufu UTSW 19 46,472,069 (GRCm39) missense possibly damaging 0.78
R4751:Sufu UTSW 19 46,472,088 (GRCm39) missense probably benign 0.01
R4959:Sufu UTSW 19 46,463,991 (GRCm39) missense possibly damaging 0.58
R4973:Sufu UTSW 19 46,463,991 (GRCm39) missense possibly damaging 0.58
R5221:Sufu UTSW 19 46,439,404 (GRCm39) critical splice donor site probably null
R5890:Sufu UTSW 19 46,443,172 (GRCm39) critical splice acceptor site probably null
R6030:Sufu UTSW 19 46,463,978 (GRCm39) missense probably damaging 0.99
R6030:Sufu UTSW 19 46,463,978 (GRCm39) missense probably damaging 0.99
R6226:Sufu UTSW 19 46,462,093 (GRCm39) missense probably damaging 1.00
R6233:Sufu UTSW 19 46,464,071 (GRCm39) missense probably damaging 1.00
R6811:Sufu UTSW 19 46,438,317 (GRCm39) missense probably damaging 1.00
R6923:Sufu UTSW 19 46,439,405 (GRCm39) splice site probably null
R7095:Sufu UTSW 19 46,464,027 (GRCm39) missense probably damaging 1.00
R7223:Sufu UTSW 19 46,441,716 (GRCm39) missense possibly damaging 0.82
R7390:Sufu UTSW 19 46,439,108 (GRCm39) splice site probably null
R8190:Sufu UTSW 19 46,389,636 (GRCm39) nonsense probably null
R9424:Sufu UTSW 19 46,474,320 (GRCm39) nonsense probably null
R9433:Sufu UTSW 19 46,385,532 (GRCm39) start gained probably benign
R9550:Sufu UTSW 19 46,385,675 (GRCm39) missense probably damaging 1.00
R9594:Sufu UTSW 19 46,385,674 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16