Incidental Mutation 'R6951:Stox2'
ID 541266
Institutional Source Beutler Lab
Gene Symbol Stox2
Ensembl Gene ENSMUSG00000038143
Gene Name storkhead box 2
Synonyms 4933409N07Rik
MMRRC Submission 045063-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R6951 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 47633083-47866943 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 47656167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 103 (T103I)
Ref Sequence ENSEMBL: ENSMUSP00000147477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079195] [ENSMUST00000110367] [ENSMUST00000209337] [ENSMUST00000210030] [ENSMUST00000210153] [ENSMUST00000211737] [ENSMUST00000211882]
AlphaFold Q499E5
Predicted Effect probably damaging
Transcript: ENSMUST00000079195
AA Change: T103I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: T103I

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Pfam:Stork_head 63 141 4.5e-35 PFAM
low complexity region 225 236 N/A INTRINSIC
low complexity region 352 377 N/A INTRINSIC
low complexity region 459 473 N/A INTRINSIC
low complexity region 654 674 N/A INTRINSIC
low complexity region 717 731 N/A INTRINSIC
low complexity region 783 795 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110367
AA Change: T41I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: T41I

DomainStartEndE-ValueType
Pfam:Stork_head 1 79 5.6e-35 PFAM
low complexity region 163 174 N/A INTRINSIC
low complexity region 290 315 N/A INTRINSIC
low complexity region 397 411 N/A INTRINSIC
low complexity region 592 612 N/A INTRINSIC
low complexity region 655 669 N/A INTRINSIC
low complexity region 721 733 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000209337
AA Change: T41I

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210030
AA Change: T41I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000210153
AA Change: T41I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211737
AA Change: T103I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211882
AA Change: T167I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.0%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd34a A G 3: 96,505,738 (GRCm39) N314S possibly damaging Het
Arhgef3 A T 14: 26,865,975 (GRCm39) probably benign Het
Bmp1 T C 14: 70,746,298 (GRCm39) R114G probably benign Het
Cenpf A G 1: 189,385,989 (GRCm39) L2097P probably damaging Het
Cgas A G 9: 78,349,840 (GRCm39) V174A probably damaging Het
Dapk2 C G 9: 66,161,904 (GRCm39) R271G probably benign Het
Dnase2a A T 8: 85,636,254 (GRCm39) N130I possibly damaging Het
Dpp10 C T 1: 123,269,379 (GRCm39) V677M possibly damaging Het
Dsp G A 13: 38,351,622 (GRCm39) C147Y possibly damaging Het
Ecpas A G 4: 58,853,114 (GRCm39) probably null Het
Esyt2 A G 12: 116,287,750 (GRCm39) T223A probably benign Het
Fndc5 G A 4: 129,032,573 (GRCm39) V59I possibly damaging Het
Fsip2 A G 2: 82,812,293 (GRCm39) T2871A possibly damaging Het
H2-Eb1 A T 17: 34,528,831 (GRCm39) R121* probably null Het
Hydin A G 8: 111,124,757 (GRCm39) I589V probably benign Het
Kitl A G 10: 99,887,714 (GRCm39) I48V probably damaging Het
Large1 A G 8: 73,843,047 (GRCm39) S159P probably damaging Het
Lrba T C 3: 86,653,180 (GRCm39) L2570P probably benign Het
Mag G A 7: 30,610,858 (GRCm39) T128I possibly damaging Het
Mkrn3 G T 7: 62,068,881 (GRCm39) D303E possibly damaging Het
Myo9a A G 9: 59,802,051 (GRCm39) D1951G probably damaging Het
Nup85 C T 11: 115,473,781 (GRCm39) T565I possibly damaging Het
Or5l13 T C 2: 87,780,323 (GRCm39) I85V possibly damaging Het
Or8b1d A G 9: 38,558,170 (GRCm39) S217P probably damaging Het
Or8b43 A G 9: 38,360,234 (GRCm39) D22G probably benign Het
Or8k31-ps1 T C 2: 86,355,993 (GRCm39) H176R probably damaging Het
Pdzrn3 A T 6: 101,131,153 (GRCm39) probably null Het
Picalm T A 7: 89,840,583 (GRCm39) N434K probably damaging Het
Platr25 A C 13: 62,853,562 (GRCm39) D77E probably benign Het
Prr22 A T 17: 57,079,028 (GRCm39) R394* probably null Het
Psg23 A T 7: 18,348,636 (GRCm39) L57Q probably damaging Het
Rap1gap2 G A 11: 74,375,774 (GRCm39) S44L possibly damaging Het
Rffl A G 11: 82,736,576 (GRCm39) probably null Het
Swt1 T C 1: 151,273,019 (GRCm39) N543S possibly damaging Het
Tep1 C T 14: 51,071,370 (GRCm39) probably null Het
Tln2 A G 9: 67,165,767 (GRCm39) Y1023H probably damaging Het
Tssk5 C A 15: 76,257,096 (GRCm39) R262L possibly damaging Het
Ttn C T 2: 76,710,986 (GRCm39) probably benign Het
Ubtfl1 A T 9: 18,320,873 (GRCm39) I134F probably benign Het
Unc80 T C 1: 66,687,670 (GRCm39) F2351S possibly damaging Het
Vps13a A T 19: 16,701,104 (GRCm39) D688E probably benign Het
Other mutations in Stox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Stox2 APN 8 47,646,647 (GRCm39) missense probably damaging 1.00
IGL02331:Stox2 APN 8 47,644,979 (GRCm39) missense probably damaging 0.96
IGL02399:Stox2 APN 8 47,639,573 (GRCm39) missense probably damaging 0.99
IGL03091:Stox2 APN 8 47,646,222 (GRCm39) missense possibly damaging 0.66
IGL03143:Stox2 APN 8 47,646,839 (GRCm39) missense possibly damaging 0.78
IGL03307:Stox2 APN 8 47,647,065 (GRCm39) missense probably damaging 1.00
R0082:Stox2 UTSW 8 47,656,317 (GRCm39) splice site probably benign
R0313:Stox2 UTSW 8 47,645,169 (GRCm39) missense probably damaging 1.00
R0382:Stox2 UTSW 8 47,656,319 (GRCm39) splice site probably benign
R0513:Stox2 UTSW 8 47,646,900 (GRCm39) missense probably damaging 1.00
R0539:Stox2 UTSW 8 47,647,070 (GRCm39) missense probably damaging 0.97
R0920:Stox2 UTSW 8 47,646,053 (GRCm39) missense probably damaging 1.00
R1764:Stox2 UTSW 8 47,647,051 (GRCm39) nonsense probably null
R1923:Stox2 UTSW 8 47,646,661 (GRCm39) missense probably damaging 1.00
R2311:Stox2 UTSW 8 47,645,013 (GRCm39) missense probably damaging 1.00
R3196:Stox2 UTSW 8 47,645,865 (GRCm39) missense probably damaging 0.99
R3715:Stox2 UTSW 8 47,866,187 (GRCm39) missense possibly damaging 0.90
R4300:Stox2 UTSW 8 47,647,027 (GRCm39) nonsense probably null
R4534:Stox2 UTSW 8 47,646,414 (GRCm39) missense probably damaging 1.00
R4600:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4601:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4602:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4603:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4610:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4624:Stox2 UTSW 8 47,646,851 (GRCm39) missense probably damaging 1.00
R4672:Stox2 UTSW 8 47,645,141 (GRCm39) missense probably damaging 1.00
R4888:Stox2 UTSW 8 47,656,198 (GRCm39) missense probably damaging 1.00
R4944:Stox2 UTSW 8 47,866,300 (GRCm39) missense possibly damaging 0.46
R5331:Stox2 UTSW 8 47,866,662 (GRCm39) utr 5 prime probably benign
R5349:Stox2 UTSW 8 47,740,951 (GRCm39) missense possibly damaging 0.70
R5367:Stox2 UTSW 8 47,656,260 (GRCm39) missense probably damaging 1.00
R5471:Stox2 UTSW 8 47,646,548 (GRCm39) missense probably damaging 0.96
R5561:Stox2 UTSW 8 47,646,041 (GRCm39) missense probably damaging 1.00
R5630:Stox2 UTSW 8 47,644,925 (GRCm39) missense probably damaging 1.00
R5719:Stox2 UTSW 8 47,866,172 (GRCm39) nonsense probably null
R5733:Stox2 UTSW 8 47,866,172 (GRCm39) nonsense probably null
R5996:Stox2 UTSW 8 47,656,182 (GRCm39) missense possibly damaging 0.93
R6170:Stox2 UTSW 8 47,645,055 (GRCm39) missense probably benign 0.02
R6458:Stox2 UTSW 8 47,645,079 (GRCm39) missense possibly damaging 0.66
R6786:Stox2 UTSW 8 47,639,500 (GRCm39) missense probably damaging 1.00
R6815:Stox2 UTSW 8 47,646,136 (GRCm39) missense probably damaging 1.00
R7193:Stox2 UTSW 8 47,639,489 (GRCm39) missense probably benign
R7330:Stox2 UTSW 8 47,645,271 (GRCm39) missense possibly damaging 0.61
R7552:Stox2 UTSW 8 47,656,154 (GRCm39) critical splice donor site probably null
R8001:Stox2 UTSW 8 47,639,512 (GRCm39) missense probably benign 0.06
R8266:Stox2 UTSW 8 47,645,060 (GRCm39) missense probably damaging 0.99
R8506:Stox2 UTSW 8 47,645,108 (GRCm39) missense possibly damaging 0.79
R8935:Stox2 UTSW 8 47,645,895 (GRCm39) missense possibly damaging 0.66
R9261:Stox2 UTSW 8 47,645,441 (GRCm39) missense possibly damaging 0.78
R9325:Stox2 UTSW 8 47,647,095 (GRCm39) missense probably benign 0.45
R9505:Stox2 UTSW 8 47,645,304 (GRCm39) missense probably benign 0.28
X0027:Stox2 UTSW 8 47,646,875 (GRCm39) missense possibly damaging 0.95
Z1177:Stox2 UTSW 8 47,647,085 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCGTAGAAGAAAGTTGCCTATTC -3'
(R):5'- GTGTTCTAATGAGCCCGCTC -3'

Sequencing Primer
(F):5'- CCTATTCAGTTTGGGTGAAGACC -3'
(R):5'- AGCCCGCTCACTTGCAAATTTG -3'
Posted On 2018-11-28