Incidental Mutation 'R0069:Sult1e1'
ID 33091
Institutional Source Beutler Lab
Gene Symbol Sult1e1
Ensembl Gene ENSMUSG00000029272
Gene Name sulfotransferase family 1E, member 1
Synonyms EST, Ste
MMRRC Submission 038360-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R0069 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 5
Chromosomal Location 87723828-87739453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87727756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 175 (H175Q)
Ref Sequence ENSEMBL: ENSMUSP00000031201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031201]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031201
AA Change: H175Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031201
Gene: ENSMUSG00000029272
AA Change: H175Q

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 288 1.1e-91 PFAM
Meta Mutation Damage Score 0.9094 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit reduced fertility. Males exhibit abnormal testis morphology with Leydig cell hypertrophy and hyperplasia and reduced caudal sperm motility. Spontaneous fetal loss caused by placental thrombosis occurs in pregnant females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,538,525 (GRCm39) C632S probably damaging Het
Antxr2 T A 5: 98,096,109 (GRCm39) M392L possibly damaging Het
Cd101 A G 3: 100,915,533 (GRCm39) V678A probably benign Het
Clec2g T C 6: 128,957,274 (GRCm39) probably null Het
Clec2g T A 6: 128,925,716 (GRCm39) S42T probably benign Het
Creb1 A G 1: 64,615,367 (GRCm39) I240V possibly damaging Het
D2hgdh G T 1: 93,763,009 (GRCm39) V265L possibly damaging Het
Dctn2 A T 10: 127,113,354 (GRCm39) probably null Het
Diablo A T 5: 123,656,087 (GRCm39) S117R probably damaging Het
Ebf2 A T 14: 67,647,499 (GRCm39) R349S probably damaging Het
Fam168a C T 7: 100,484,618 (GRCm39) A252V probably benign Het
Fbn2 T C 18: 58,202,256 (GRCm39) Y1299C probably damaging Het
Gne A C 4: 44,060,099 (GRCm39) V98G probably damaging Het
Hk2 A G 6: 82,713,509 (GRCm39) probably null Het
Ifi206 A T 1: 173,314,413 (GRCm39) V9D probably damaging Het
Ints3 A G 3: 90,307,954 (GRCm39) probably benign Het
Itgal A G 7: 126,909,503 (GRCm39) T56A probably benign Het
Lzts3 T A 2: 130,478,460 (GRCm39) T213S probably benign Het
Map1b A G 13: 99,566,356 (GRCm39) S2122P unknown Het
Mei4 C T 9: 81,907,635 (GRCm39) Q223* probably null Het
Mpzl3 T C 9: 44,979,550 (GRCm39) V167A probably damaging Het
Myo1d A G 11: 80,528,779 (GRCm39) I681T probably damaging Het
Myom2 A G 8: 15,167,624 (GRCm39) T1070A probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Nfx1 T C 4: 40,986,688 (GRCm39) probably benign Het
Or10ak12 A T 4: 118,666,887 (GRCm39) V58D probably damaging Het
Or8g33 A G 9: 39,338,188 (GRCm39) Y60H probably damaging Het
Ostm1 A C 10: 42,568,952 (GRCm39) D37A probably benign Het
Pde8a T C 7: 80,968,871 (GRCm39) probably benign Het
Pole2 A T 12: 69,256,661 (GRCm39) V288E probably damaging Het
Poteg T C 8: 27,937,849 (GRCm39) S2P probably benign Het
Ppp2r5c A T 12: 110,534,204 (GRCm39) M356L probably benign Het
Prkdc G A 16: 15,544,368 (GRCm39) S1786N probably benign Het
Prox1 A G 1: 189,893,116 (GRCm39) V443A possibly damaging Het
Prpf6 T A 2: 181,257,756 (GRCm39) probably null Het
Ptger1 A T 8: 84,394,948 (GRCm39) T142S possibly damaging Het
Rad54l2 C A 9: 106,587,564 (GRCm39) V734L possibly damaging Het
Rnpepl1 T A 1: 92,846,620 (GRCm39) N507K possibly damaging Het
Slc38a10 A T 11: 119,997,328 (GRCm39) V722E probably damaging Het
Slfn10-ps A G 11: 82,926,368 (GRCm39) noncoding transcript Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Ube2e3 C A 2: 78,750,293 (GRCm39) probably benign Het
Vmn1r208 A T 13: 22,956,595 (GRCm39) W301R probably benign Het
Vps13d A G 4: 144,789,133 (GRCm39) I746T probably benign Het
Xpnpep3 T C 15: 81,314,999 (GRCm39) V233A probably benign Het
Zfp329 A T 7: 12,544,859 (GRCm39) S222T probably damaging Het
Zswim6 T C 13: 107,875,098 (GRCm39) noncoding transcript Het
Other mutations in Sult1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01504:Sult1e1 APN 5 87,724,160 (GRCm39) missense probably damaging 1.00
IGL01588:Sult1e1 APN 5 87,724,102 (GRCm39) missense probably benign 0.01
IGL02685:Sult1e1 APN 5 87,727,765 (GRCm39) nonsense probably null
IGL03083:Sult1e1 APN 5 87,737,983 (GRCm39) missense probably benign
IGL03137:Sult1e1 APN 5 87,726,475 (GRCm39) missense probably benign 0.00
IGL03217:Sult1e1 APN 5 87,737,947 (GRCm39) missense possibly damaging 0.46
R0069:Sult1e1 UTSW 5 87,727,756 (GRCm39) missense probably damaging 1.00
R0456:Sult1e1 UTSW 5 87,726,493 (GRCm39) missense possibly damaging 0.86
R1446:Sult1e1 UTSW 5 87,726,396 (GRCm39) missense probably damaging 1.00
R1953:Sult1e1 UTSW 5 87,735,530 (GRCm39) critical splice acceptor site probably null
R2697:Sult1e1 UTSW 5 87,726,397 (GRCm39) missense probably damaging 1.00
R4791:Sult1e1 UTSW 5 87,734,589 (GRCm39) missense possibly damaging 0.61
R4799:Sult1e1 UTSW 5 87,738,027 (GRCm39) missense possibly damaging 0.70
R5103:Sult1e1 UTSW 5 87,724,091 (GRCm39) missense probably benign
R5158:Sult1e1 UTSW 5 87,735,453 (GRCm39) missense probably damaging 1.00
R5219:Sult1e1 UTSW 5 87,726,445 (GRCm39) missense probably damaging 0.98
R6148:Sult1e1 UTSW 5 87,727,770 (GRCm39) missense probably damaging 1.00
R6530:Sult1e1 UTSW 5 87,724,147 (GRCm39) missense probably benign 0.18
R6866:Sult1e1 UTSW 5 87,734,625 (GRCm39) missense probably damaging 1.00
R7295:Sult1e1 UTSW 5 87,726,512 (GRCm39) nonsense probably null
R8812:Sult1e1 UTSW 5 87,735,501 (GRCm39) missense probably benign
R8890:Sult1e1 UTSW 5 87,727,719 (GRCm39) missense probably benign 0.01
R9071:Sult1e1 UTSW 5 87,735,681 (GRCm39) intron probably benign
R9252:Sult1e1 UTSW 5 87,737,973 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTCTGCAACAGGTTGTTGTTAGG -3'
(R):5'- CCTTGTCTCTGTCTCACACAAACAGAA -3'

Sequencing Primer
(F):5'- GGTTTCCAGTGATAATATTGCATCC -3'
(R):5'- cacacacactcacacacac -3'
Posted On 2013-05-09