Incidental Mutation 'IGL01613:Sufu'
ID 92278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sufu
Ensembl Gene ENSMUSG00000025231
Gene Name SUFU negative regulator of hedgehog signaling
Synonyms b2b273Clo, Su(Fu), 2810026F04Rik
Accession Numbers

Ncbi RefSeq: NM_015752.2; NM_001025391.1; MGI:1345643

Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01613
Quality Score
Status
Chromosome 19
Chromosomal Location 46396896-46488804 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46475620 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 424 (Y424H)
Ref Sequence ENSEMBL: ENSMUSP00000113073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039922] [ENSMUST00000111867] [ENSMUST00000118440]
AlphaFold Q9Z0P7
Predicted Effect probably damaging
Transcript: ENSMUST00000039922
AA Change: Y424H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
AA Change: Y424H

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: Y425H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
AA Change: Y425H

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: Y424H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
AA Change: Y424H

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 noncoding transcript
Transcript: ENSMUST00000123252
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3512046; 3619046
Lethality: E9-E11
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,512,652 M446R possibly damaging Het
Abca16 A G 7: 120,541,277 N1599S probably benign Het
Ankib1 G A 5: 3,713,146 Q528* probably null Het
Ano10 A T 9: 122,259,540 L347M possibly damaging Het
Bag6 T C 17: 35,143,016 probably benign Het
Bpnt1 T C 1: 185,353,994 V182A possibly damaging Het
Capn13 G T 17: 73,331,058 T450N probably benign Het
Cbr3 A T 16: 93,683,443 E40V probably benign Het
Cdk10 T C 8: 123,228,387 I159T probably damaging Het
Cela3b T C 4: 137,425,071 D65G possibly damaging Het
Csf2rb T G 15: 78,335,302 probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dpp9 T C 17: 56,190,713 H687R probably benign Het
Elovl1 T C 4: 118,431,270 V108A probably benign Het
Emb T A 13: 117,272,078 N318K probably damaging Het
Ermp1 A G 19: 29,639,939 L36P probably damaging Het
Esco2 T G 14: 65,826,595 H380P possibly damaging Het
Gm5724 G T 6: 141,713,214 T552K possibly damaging Het
Gm9747 G A 1: 82,234,088 probably benign Het
Golga1 A G 2: 39,020,126 M603T probably benign Het
Hsph1 A G 5: 149,627,278 V411A probably benign Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Ints11 T C 4: 155,885,198 probably null Het
Jakmip1 G T 5: 37,100,768 A253S probably damaging Het
Met A G 6: 17,540,577 Y834C probably damaging Het
Mgl2 A G 11: 70,134,158 T2A probably benign Het
Myh2 G T 11: 67,197,344 V1929L probably benign Het
Myh8 T C 11: 67,301,710 S1472P probably benign Het
Myo1e T C 9: 70,341,273 probably benign Het
Ndufaf7 A G 17: 78,937,502 I17V probably benign Het
Olfr1046 T G 2: 86,217,161 D183A probably damaging Het
Olfr1256 T C 2: 89,835,808 T46A probably damaging Het
Olfr193 A T 16: 59,109,921 S230T probably damaging Het
Olfr804 A G 10: 129,705,623 I248M probably benign Het
Olfr830 T A 9: 18,875,321 probably benign Het
Olfr914 A G 9: 38,606,554 I30V probably null Het
Olfr992 C T 2: 85,400,171 D121N probably damaging Het
Ppef2 T C 5: 92,235,820 E477G probably benign Het
Scmh1 T A 4: 120,529,900 probably benign Het
Scn1a C A 2: 66,285,937 D1473Y probably damaging Het
Sdr42e1 C T 8: 117,662,937 V322I probably benign Het
Spta1 G A 1: 174,208,394 A1089T probably damaging Het
Tgs1 T C 4: 3,585,183 F108L possibly damaging Het
Ttn T C 2: 76,974,964 N177S probably benign Het
Tyk2 T C 9: 21,120,576 D401G probably damaging Het
Vav1 T C 17: 57,307,067 F650L possibly damaging Het
Wdr12 T C 1: 60,080,559 H385R probably damaging Het
Xab2 T C 8: 3,610,880 M745V probably benign Het
Other mutations in Sufu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Sufu APN 19 46450943 missense probably damaging 1.00
IGL01652:Sufu APN 19 46475620 missense probably damaging 1.00
IGL02420:Sufu APN 19 46425042 missense probably damaging 1.00
IGL02501:Sufu APN 19 46450910 missense probably benign 0.04
IGL02984:Sufu UTSW 19 46473599 missense probably benign
P0018:Sufu UTSW 19 46475494 splice site probably benign
R0172:Sufu UTSW 19 46397124 missense possibly damaging 0.86
R0280:Sufu UTSW 19 46450673 splice site probably benign
R1175:Sufu UTSW 19 46401264 splice site probably null
R1295:Sufu UTSW 19 46454720 splice site probably benign
R1296:Sufu UTSW 19 46454720 splice site probably benign
R1420:Sufu UTSW 19 46397184 missense probably benign 0.36
R1846:Sufu UTSW 19 46450947 missense possibly damaging 0.47
R2061:Sufu UTSW 19 46397212 missense probably damaging 1.00
R4082:Sufu UTSW 19 46425102 missense probably damaging 0.99
R4151:Sufu UTSW 19 46449972 critical splice donor site probably null
R4744:Sufu UTSW 19 46483630 missense possibly damaging 0.78
R4751:Sufu UTSW 19 46483649 missense probably benign 0.01
R4959:Sufu UTSW 19 46475552 missense possibly damaging 0.58
R4973:Sufu UTSW 19 46475552 missense possibly damaging 0.58
R5221:Sufu UTSW 19 46450965 critical splice donor site probably null
R5890:Sufu UTSW 19 46454733 critical splice acceptor site probably null
R6030:Sufu UTSW 19 46475539 missense probably damaging 0.99
R6030:Sufu UTSW 19 46475539 missense probably damaging 0.99
R6226:Sufu UTSW 19 46473654 missense probably damaging 1.00
R6233:Sufu UTSW 19 46475632 missense probably damaging 1.00
R6811:Sufu UTSW 19 46449878 missense probably damaging 1.00
R6923:Sufu UTSW 19 46450966 splice site probably null
R7095:Sufu UTSW 19 46475588 missense probably damaging 1.00
R7223:Sufu UTSW 19 46453277 missense possibly damaging 0.82
R7390:Sufu UTSW 19 46450669 splice site probably null
R8190:Sufu UTSW 19 46401197 nonsense probably null
R9424:Sufu UTSW 19 46485881 nonsense probably null
R9433:Sufu UTSW 19 46397093 start gained probably benign
R9550:Sufu UTSW 19 46397236 missense probably damaging 1.00
R9594:Sufu UTSW 19 46397235 missense probably damaging 1.00
Posted On 2013-12-09