Incidental Mutation 'R6616:Stpg4'
ID 524103
Institutional Source Beutler Lab
Gene Symbol Stpg4
Ensembl Gene ENSMUSG00000036557
Gene Name sperm tail PG rich repeat containing 4
Synonyms 1700011E24Rik
MMRRC Submission 044739-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6616 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 87696999-87735169 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87730124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 74 (Y74H)
Ref Sequence ENSEMBL: ENSMUSP00000140579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040609] [ENSMUST00000186211] [ENSMUST00000187078]
AlphaFold Q9DAG5
Predicted Effect probably damaging
Transcript: ENSMUST00000040609
AA Change: Y74H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044250
Gene: ENSMUSG00000036557
AA Change: Y74H

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 211 240 3.7e-4 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186211
AA Change: Y74H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000187078
AA Change: Y74H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140579
Gene: ENSMUSG00000036557
AA Change: Y74H

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 98 124 1.9e2 PFAM
Pfam:SHIPPO-rpt 137 164 6.8e0 PFAM
Pfam:SHIPPO-rpt 171 204 1.1e0 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189487
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,603,509 (GRCm39) H567L probably damaging Het
Adck1 T A 12: 88,427,958 (GRCm39) M525K unknown Het
Alpi T C 1: 87,028,836 (GRCm39) I74V possibly damaging Het
Ccdc168 C A 1: 44,100,634 (GRCm39) V155L possibly damaging Het
Creb5 A C 6: 53,662,295 (GRCm39) Q197H possibly damaging Het
Cyp2b13 A G 7: 25,785,306 (GRCm39) K225R probably benign Het
Dock1 G A 7: 134,710,221 (GRCm39) E1143K possibly damaging Het
Eef2kmt T A 16: 5,065,346 (GRCm39) D287V probably damaging Het
Eif2ak4 T A 2: 118,285,326 (GRCm39) Y1046* probably null Het
Fbxw10 T A 11: 62,743,850 (GRCm39) M252K probably benign Het
Fnip2 A C 3: 79,388,189 (GRCm39) H847Q probably benign Het
Frmd3 A T 4: 74,105,725 (GRCm39) D457V probably damaging Het
Gm13941 T G 2: 110,931,520 (GRCm39) E37D unknown Het
Grin1 T A 2: 25,182,122 (GRCm39) I870F possibly damaging Het
Grin2b A C 6: 135,709,549 (GRCm39) D1332E probably benign Het
Gtpbp4 G A 13: 9,039,141 (GRCm39) T201I possibly damaging Het
Heatr4 A G 12: 84,026,904 (GRCm39) C118R probably benign Het
Hltf T A 3: 20,163,651 (GRCm39) probably null Het
Hmcn1 C T 1: 150,599,008 (GRCm39) probably null Het
Hpd A T 5: 123,310,123 (GRCm39) L367Q probably damaging Het
Htr1b A G 9: 81,514,487 (GRCm39) I40T probably benign Het
Il16 A G 7: 83,295,684 (GRCm39) S464P probably benign Het
Lrp1b T A 2: 40,589,643 (GRCm39) D75V unknown Het
Map3k4 A T 17: 12,490,231 (GRCm39) L400Q probably damaging Het
Mcts2 T A 2: 152,529,582 (GRCm39) I131N possibly damaging Het
Mroh2b A C 15: 4,982,764 (GRCm39) I1528L probably benign Het
Muc4 A C 16: 32,602,378 (GRCm39) D3467A possibly damaging Het
Mypn A T 10: 63,005,091 (GRCm39) C339S probably damaging Het
Ncoa5 A T 2: 164,852,483 (GRCm39) Y130* probably null Het
Or11g27 T A 14: 50,771,364 (GRCm39) I165N probably benign Het
Or2y11 T A 11: 49,442,868 (GRCm39) V98E probably damaging Het
Pcdha4 A G 18: 37,086,953 (GRCm39) T379A probably benign Het
Pkp4 C G 2: 59,180,896 (GRCm39) Y720* probably null Het
Prl5a1 C T 13: 28,333,839 (GRCm39) T114I probably benign Het
Rnd3 A G 2: 51,024,169 (GRCm39) S137P probably damaging Het
Rtel1 G A 2: 180,994,579 (GRCm39) E680K possibly damaging Het
Sbsn T A 7: 30,452,704 (GRCm39) V573D possibly damaging Het
Scaf8 A T 17: 3,218,330 (GRCm39) L233F unknown Het
Sec23a A T 12: 59,043,941 (GRCm39) I241K possibly damaging Het
Secisbp2l A T 2: 125,610,146 (GRCm39) S258T probably damaging Het
Skint4 A G 4: 111,975,427 (GRCm39) H121R possibly damaging Het
Sptbn1 T A 11: 30,074,030 (GRCm39) E1346D probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmc4 A G 7: 3,674,057 (GRCm39) V374A possibly damaging Het
Unc45b G A 11: 82,802,645 (GRCm39) R47Q probably damaging Het
Xirp1 A G 9: 119,848,080 (GRCm39) S268P probably damaging Het
Zfp990 A T 4: 145,263,715 (GRCm39) I238L probably benign Het
Zswim5 A G 4: 116,843,938 (GRCm39) D992G possibly damaging Het
Other mutations in Stpg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01833:Stpg4 APN 17 87,702,585 (GRCm39) splice site probably null
R0364:Stpg4 UTSW 17 87,697,142 (GRCm39) critical splice acceptor site probably null
R2040:Stpg4 UTSW 17 87,730,075 (GRCm39) missense probably damaging 1.00
R4463:Stpg4 UTSW 17 87,697,101 (GRCm39) missense probably benign 0.18
R6239:Stpg4 UTSW 17 87,718,667 (GRCm39) missense probably benign 0.08
R7379:Stpg4 UTSW 17 87,735,068 (GRCm39) splice site probably null
R7457:Stpg4 UTSW 17 87,735,006 (GRCm39) critical splice donor site probably null
R9281:Stpg4 UTSW 17 87,702,671 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- AACTAGTGTGCTGGGGTCT -3'
(R):5'- CACACAAACTCACATTCAATATTGAT -3'

Sequencing Primer
(F):5'- TCTGCCCGGGGTTTGTCC -3'
(R):5'- GACAATGCCTTAGGGGAA -3'
Posted On 2018-06-22