Incidental Mutation 'IGL01322:Sufu'
ID 74082
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 # IGL01322
Quality Score
Status
Chromosome 19
Chromosomal Location 46396896-46488804 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46450943 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 246 (E246K)
Ref Sequence ENSEMBL: ENSMUSP00000107498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039922] [ENSMUST00000111867] [ENSMUST00000118440] [ENSMUST00000120778]
AlphaFold Q9Z0P7
Predicted Effect probably damaging
Transcript: ENSMUST00000039922
AA Change: E246K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
AA Change: E246K

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: E246K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
AA Change: E246K

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: E246K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
AA Change: E246K

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: E201K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112653
Gene: ENSMUSG00000025231
AA Change: E201K

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 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Abca2 T A 2: 25,446,782 probably null Het
Ano7 T A 1: 93,395,508 V497D probably benign Het
B4gat1 T C 19: 5,040,009 Y345H probably damaging Het
Bckdha T A 7: 25,658,707 R12W possibly damaging Het
Bcl7c T A 7: 127,707,436 N93Y probably damaging Het
Cc2d2a C A 5: 43,689,003 T368K probably benign Het
Chek1 G A 9: 36,718,421 Q210* probably null Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Cspg4 T A 9: 56,898,588 F2228I probably damaging Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
Dph7 T C 2: 24,965,617 S143P possibly damaging Het
Ehbp1 T A 11: 22,089,636 K821N probably damaging Het
Eomes T C 9: 118,484,830 S648P probably benign Het
Fam20a A G 11: 109,682,912 V215A probably damaging Het
Fer1l4 T A 2: 156,020,339 probably null Het
Frem2 A G 3: 53,541,038 V2319A probably benign Het
Gtf3c4 T C 2: 28,833,572 D575G probably benign Het
Ifit1bl2 A G 19: 34,619,004 V404A probably benign Het
Kcnf1 T C 12: 17,175,348 M291V probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Klra4 T A 6: 130,062,022 T136S probably benign Het
Mcrs1 A T 15: 99,243,385 I399N probably damaging Het
Neo1 T C 9: 58,907,085 E866G possibly damaging Het
Notch3 T C 17: 32,144,471 D1206G probably damaging Het
Olfr1427 A C 19: 12,099,405 V78G probably benign Het
Olfr1443 A C 19: 12,680,749 I214L probably benign Het
Olfr290 T A 7: 84,916,382 V201E probably damaging Het
Olfr299 T A 7: 86,466,272 I287N probably damaging Het
Olfr479 A G 7: 108,054,981 probably benign Het
Olfr800 A G 10: 129,660,126 T107A probably benign Het
Pnkd A G 1: 74,351,557 N336D probably damaging Het
Prag1 T C 8: 36,103,934 V557A probably benign Het
Ptgfr A C 3: 151,835,686 S62A probably benign Het
Smc2 A G 4: 52,450,842 Y220C probably damaging Het
Sult2a1 T A 7: 13,832,679 R124* probably null Het
Sult4a1 T A 15: 84,086,616 Y196F possibly damaging Het
Trim15 G A 17: 36,865,083 R191W probably damaging Het
Ttn A G 2: 76,942,975 V2361A possibly damaging Het
Usp16 T C 16: 87,466,276 V122A possibly damaging Het
Vmn1r122 T A 7: 21,134,111 K6N probably benign Het
Vmn1r34 G A 6: 66,636,915 Q280* probably null Het
Vmn2r45 T A 7: 8,481,333 H491L possibly damaging Het
Wdpcp T C 11: 21,711,949 L407P probably damaging Het
Zfp157 T C 5: 138,447,578 I65T probably benign Het
Other mutations in Sufu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Sufu APN 19 46475620 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 2013-10-07