Incidental Mutation 'R0211:Spdef'
ID 66424
Institutional Source Beutler Lab
Gene Symbol Spdef
Ensembl Gene ENSMUSG00000024215
Gene Name SAM pointed domain containing ets transcription factor
Synonyms Pse, PDEF
MMRRC Submission 038462-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # R0211 (G1)
Quality Score 160
Status Not validated
Chromosome 17
Chromosomal Location 27933326-27947929 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 27933894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 309 (R309H)
Ref Sequence ENSEMBL: ENSMUSP00000127056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025054] [ENSMUST00000045896] [ENSMUST00000114870] [ENSMUST00000167489] [ENSMUST00000231669] [ENSMUST00000232437]
AlphaFold Q9WTP3
Predicted Effect probably damaging
Transcript: ENSMUST00000025054
AA Change: R309H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025054
Gene: ENSMUSG00000024215
AA Change: R309H

DomainStartEndE-ValueType
SAM_PNT 121 203 4.68e-33 SMART
ETS 238 325 4.06e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000045896
SMART Domains Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276

DomainStartEndE-ValueType
FCH 14 102 1.53e-29 SMART
low complexity region 144 156 N/A INTRINSIC
low complexity region 225 236 N/A INTRINSIC
SH3 385 441 8.11e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114870
AA Change: R309H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110520
Gene: ENSMUSG00000024215
AA Change: R309H

DomainStartEndE-ValueType
SAM_PNT 121 203 4.68e-33 SMART
ETS 238 325 4.06e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127622
Predicted Effect probably damaging
Transcript: ENSMUST00000167489
AA Change: R309H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127056
Gene: ENSMUSG00000024215
AA Change: R309H

DomainStartEndE-ValueType
SAM_PNT 121 203 4.68e-33 SMART
ETS 238 325 4.06e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231669
Predicted Effect probably benign
Transcript: ENSMUST00000232437
Coding Region Coverage
  • 1x: 96.9%
  • 3x: 92.1%
  • 10x: 58.4%
  • 20x: 15.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expression of this protein has also been reported in brain, breast, lung and ovarian tumors, compared to the corresponding normal tissues, and it shows better tumor-association than other cancer-associated molecules, making it a more suitable target for developing specific cancer therapies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele have reduced numbers of intestinal and respiratory mucosa goblet cells. Increased inflammation of the gastric antrum has also been seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,262,870 (GRCm39) L1401P possibly damaging Het
Adgrf1 T C 17: 43,607,581 (GRCm39) L100P probably damaging Het
Akt1 T C 12: 112,621,576 (GRCm39) T407A probably damaging Het
Arnt T A 3: 95,383,460 (GRCm39) M242K probably damaging Het
Atad5 T G 11: 79,986,473 (GRCm39) V520G probably benign Het
Cbr2 T A 11: 120,621,614 (GRCm39) I88L probably benign Het
Ccdc51 T C 9: 108,918,441 (GRCm39) M10T probably benign Het
Cryba1 T A 11: 77,609,693 (GRCm39) Y179F probably damaging Het
Dcaf4 T A 12: 83,582,735 (GRCm39) F277I probably damaging Het
Ddost G A 4: 138,036,913 (GRCm39) V159M probably damaging Het
Dnase2a A G 8: 85,635,417 (GRCm39) probably benign Het
Efcc1 A T 6: 87,726,136 (GRCm39) T312S probably benign Het
Ermard A T 17: 15,242,205 (GRCm39) Q127L probably damaging Het
Ggnbp2 G A 11: 84,731,139 (GRCm39) T325M probably damaging Het
H2-T5 T C 17: 36,478,899 (GRCm39) T117A probably damaging Het
Ift74 C T 4: 94,567,492 (GRCm39) T395I probably benign Het
Irf8 A T 8: 121,466,714 (GRCm39) D53V probably damaging Het
Itgad A G 7: 127,803,813 (GRCm39) Y69C probably damaging Het
Lpin3 A T 2: 160,740,601 (GRCm39) D382V probably damaging Het
Map4k3 C T 17: 80,952,270 (GRCm39) A179T probably damaging Het
Nck1 A T 9: 100,379,820 (GRCm39) W144R probably damaging Het
Nin T G 12: 70,061,649 (GRCm39) T2072P probably damaging Het
Nop2 T G 6: 125,118,307 (GRCm39) L529R probably damaging Het
Nynrin T C 14: 56,109,255 (GRCm39) F1454S probably benign Het
Or10ak7 T A 4: 118,791,467 (GRCm39) M191L probably benign Het
Or5b101 T C 19: 13,005,646 (GRCm39) T16A possibly damaging Het
Or8j3c A C 2: 86,253,451 (GRCm39) S190A probably damaging Het
Pcdhb10 A T 18: 37,547,059 (GRCm39) M712L probably benign Het
Pcx C T 19: 4,670,227 (GRCm39) A935V probably damaging Het
Pdzd7 A G 19: 45,022,106 (GRCm39) V514A possibly damaging Het
Plxnb1 T A 9: 108,932,731 (GRCm39) Y568* probably null Het
Rgr T G 14: 36,768,925 (GRCm39) T37P probably damaging Het
Rpusd2 A G 2: 118,868,893 (GRCm39) S439G probably benign Het
Slc6a21 A C 7: 44,937,667 (GRCm39) T653P possibly damaging Het
Srp68 A T 11: 116,156,377 (GRCm39) Y84N probably damaging Het
Tmem63b T A 17: 45,972,839 (GRCm39) M652L probably benign Het
Tnk1 A G 11: 69,746,007 (GRCm39) V306A probably damaging Het
Tnnc2 T A 2: 164,619,404 (GRCm39) I147F probably damaging Het
Tyw3 T C 3: 154,293,132 (GRCm39) N181S probably damaging Het
Unc79 T A 12: 103,039,051 (GRCm39) S682T probably benign Het
Wasl G T 6: 24,633,892 (GRCm39) A124E probably damaging Het
Zfp287 T C 11: 62,605,743 (GRCm39) H388R probably damaging Het
Zfp335 T C 2: 164,749,612 (GRCm39) T262A probably damaging Het
Zfp457 C G 13: 67,441,211 (GRCm39) G359R probably benign Het
Zfp872 T A 9: 22,111,469 (GRCm39) I316N probably damaging Het
Other mutations in Spdef
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0211:Spdef UTSW 17 27,933,894 (GRCm39) missense probably damaging 1.00
R0497:Spdef UTSW 17 27,937,032 (GRCm39) missense probably benign 0.02
R0972:Spdef UTSW 17 27,933,997 (GRCm39) missense probably damaging 1.00
R2255:Spdef UTSW 17 27,939,269 (GRCm39) missense probably benign 0.01
R4930:Spdef UTSW 17 27,937,136 (GRCm39) missense probably damaging 1.00
R7151:Spdef UTSW 17 27,939,134 (GRCm39) missense possibly damaging 0.92
R7339:Spdef UTSW 17 27,939,219 (GRCm39) missense probably benign
R7392:Spdef UTSW 17 27,936,262 (GRCm39) missense probably benign 0.06
R9640:Spdef UTSW 17 27,936,183 (GRCm39) missense
V8831:Spdef UTSW 17 27,937,051 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2013-08-19