Incidental Mutation 'R4744:Sufu'
ID 356617
Institutional Source Beutler Lab
Gene Symbol Sufu
Ensembl Gene ENSMUSG00000025231
Gene Name SUFU negative regulator of hedgehog signaling
Synonyms b2b273Clo, 2810026F04Rik, Su(Fu)
MMRRC Submission 042027-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4744 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 46385335-46477243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46472069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 443 (M443V)
Ref Sequence ENSEMBL: ENSMUSP00000049109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039922] [ENSMUST00000111867]
AlphaFold Q9Z0P7
Predicted Effect possibly damaging
Transcript: ENSMUST00000039922
AA Change: M443V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
AA Change: M443V

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 benign
Transcript: ENSMUST00000111867
AA Change: M444V

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
AA Change: M444V

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 noncoding transcript
Transcript: ENSMUST00000144341
Meta Mutation Damage Score 0.4183 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (82/83)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,017,617 (GRCm39) S143P possibly damaging Het
4933427D14Rik T C 11: 72,066,365 (GRCm39) K614E probably damaging Het
Aatk A G 11: 119,906,948 (GRCm39) M155T possibly damaging Het
Acvr2b T C 9: 119,260,328 (GRCm39) L333P probably damaging Het
Adam22 T C 5: 8,128,699 (GRCm39) E865G probably damaging Het
Add2 A G 6: 86,087,870 (GRCm39) S358G probably damaging Het
Agap2 T C 10: 126,926,072 (GRCm39) probably null Het
Alkbh8 G A 9: 3,344,604 (GRCm39) W49* probably null Het
AU015228 A T 2: 129,942,549 (GRCm39) noncoding transcript Het
Bank1 G T 3: 135,953,450 (GRCm39) R102S probably benign Het
Brap T A 5: 121,800,193 (GRCm39) D27E probably damaging Het
Cyb5r2 G T 7: 107,349,484 (GRCm39) H276N possibly damaging Het
Dhh A G 15: 98,792,139 (GRCm39) F290L possibly damaging Het
Dhrs7 T A 12: 72,699,025 (GRCm39) N319I possibly damaging Het
Ebpl A G 14: 61,597,682 (GRCm39) V53A probably damaging Het
Eif3j2 TGCCGCCGCCGCCGCCGCCGCCGCCGCC TGCCGCCGCCGCCGCCGCCGCCGCC 18: 43,610,782 (GRCm39) probably benign Het
Etnk1 A C 6: 143,132,319 (GRCm39) N220T probably damaging Het
F11r T A 1: 171,288,166 (GRCm39) V64D probably benign Het
Fam171a1 T C 2: 3,225,946 (GRCm39) S360P probably damaging Het
Fignl1 A G 11: 11,751,585 (GRCm39) M490T probably damaging Het
Fpr-rs7 A T 17: 20,334,265 (GRCm39) M75K probably benign Het
Fzd7 T A 1: 59,523,595 (GRCm39) F493I possibly damaging Het
Galnt14 G T 17: 73,814,828 (GRCm39) P412T probably damaging Het
Gcg T A 2: 62,308,975 (GRCm39) S60C probably damaging Het
Ggt1 A G 10: 75,421,733 (GRCm39) K527E probably benign Het
Gm16551 T A 9: 74,758,153 (GRCm39) noncoding transcript Het
Gm9972 A G 11: 42,927,517 (GRCm39) K55E unknown Het
Gpr141 T A 13: 19,935,884 (GRCm39) D297V probably benign Het
Grin2b G A 6: 135,755,697 (GRCm39) S539L probably damaging Het
Hhipl1 A T 12: 108,286,238 (GRCm39) N515I possibly damaging Het
Hmcn1 T G 1: 150,453,363 (GRCm39) E5317D probably damaging Het
Hsf5 T A 11: 87,513,617 (GRCm39) N227K probably benign Het
Igfn1 A T 1: 135,910,196 (GRCm39) D129E probably benign Het
Invs T C 4: 48,397,609 (GRCm39) F339L probably damaging Het
Jak2 T A 19: 29,239,656 (GRCm39) S17T probably benign Het
Mdga2 T A 12: 66,844,501 (GRCm39) I166F probably benign Het
Nck1 T C 9: 100,388,797 (GRCm39) I6V probably benign Het
Neb T C 2: 52,040,589 (GRCm39) D6624G probably benign Het
Nmur2 A G 11: 55,931,661 (GRCm39) Y17H probably benign Het
Nwd2 T C 5: 63,964,310 (GRCm39) L1298P probably damaging Het
Ocel1 A G 8: 71,825,397 (GRCm39) E161G probably damaging Het
Or1j16 A T 2: 36,530,991 (GRCm39) probably null Het
Pabpc2 A G 18: 39,907,881 (GRCm39) Y382C probably benign Het
Panx1 A G 9: 14,921,594 (GRCm39) probably benign Het
Pdhx A T 2: 102,872,641 (GRCm39) V147D probably benign Het
Pigz A T 16: 31,764,151 (GRCm39) H403L probably damaging Het
Pilra T C 5: 137,833,769 (GRCm39) probably null Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Rhobtb2 A G 14: 70,031,451 (GRCm39) L558P probably damaging Het
Scarf2 G A 16: 17,621,380 (GRCm39) R322H probably damaging Het
Septin3 T C 15: 82,174,658 (GRCm39) probably null Het
Sirt2 T C 7: 28,476,438 (GRCm39) F26L probably damaging Het
Slc1a1 A T 19: 28,871,925 (GRCm39) T133S probably benign Het
Slc1a2 A G 2: 102,568,214 (GRCm39) I84V probably benign Het
Slc28a2b A T 2: 122,353,286 (GRCm39) K489* probably null Het
Slc6a9 A T 4: 117,725,092 (GRCm39) Q562L probably benign Het
Snx29 C T 16: 11,167,773 (GRCm39) Q25* probably null Het
St6galnac6 A G 2: 32,508,555 (GRCm39) I231V probably damaging Het
Stard9 A G 2: 120,526,604 (GRCm39) T954A probably benign Het
Sv2b T C 7: 74,856,266 (GRCm39) D8G probably benign Het
Tapbpl G A 6: 125,205,248 (GRCm39) R233W probably damaging Het
Tex10 A G 4: 48,469,990 (GRCm39) L25S probably benign Het
Trp53bp1 A T 2: 121,041,794 (GRCm39) V1254D probably damaging Het
Ugt3a1 T A 15: 9,310,639 (GRCm39) I307N probably benign Het
Unc13c T C 9: 73,839,126 (GRCm39) D575G probably damaging Het
Usf2 A T 7: 30,654,197 (GRCm39) D166E probably damaging Het
Usp25 T A 16: 76,911,877 (GRCm39) L969M probably damaging Het
Usp32 G A 11: 84,885,219 (GRCm39) P1276L probably damaging Het
Vmn2r8 T A 5: 108,956,447 (GRCm39) E58D probably benign Het
Zfp462 G T 4: 55,011,598 (GRCm39) C40F probably damaging 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
IGL02420:Sufu APN 19 46,413,481 (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
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
Predicted Primers PCR Primer
(F):5'- GTGCAGTCTTTTCTGGAAGC -3'
(R):5'- GGGGTTCCTCTCCAGATTTATG -3'

Sequencing Primer
(F):5'- CAGTCTTTTCTGGAAGCCTCGAG -3'
(R):5'- GCCTGTACTTCTGAAAACAGTC -3'
Posted On 2015-11-11