Incidental Mutation 'R8139:Srebf2'
ID 632440
Institutional Source Beutler Lab
Gene Symbol Srebf2
Ensembl Gene ENSMUSG00000022463
Gene Name sterol regulatory element binding factor 2
Synonyms SREBP-2, bHLHd2, nuc, SREBP2, lop13, SREBP2gc
MMRRC Submission 067567-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8139 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 82031455-82089580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82062966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 468 (R468C)
Ref Sequence ENSEMBL: ENSMUSP00000023100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023100] [ENSMUST00000229336]
AlphaFold Q3U1N2
Predicted Effect probably damaging
Transcript: ENSMUST00000023100
AA Change: R468C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: R468C

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 56 75 N/A INTRINSIC
low complexity region 94 104 N/A INTRINSIC
low complexity region 118 137 N/A INTRINSIC
low complexity region 178 204 N/A INTRINSIC
low complexity region 210 235 N/A INTRINSIC
HLH 325 375 3.54e-15 SMART
low complexity region 383 394 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 570 586 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000229336
AA Change: R428C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 94.2%
Validation Efficiency 100% (84/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display prenatal lethality. Mice homozygous for an ENU mutation display cataracts and persistent wounds of the skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik G T X: 69,438,120 (GRCm39) Q58K possibly damaging Het
Aamdc T C 7: 97,214,450 (GRCm39) M42V probably benign Het
Abca6 T A 11: 110,074,959 (GRCm39) Q1368L probably damaging Het
Best3 G A 10: 116,840,331 (GRCm39) G254R probably damaging Het
Cacna1h A T 17: 25,602,697 (GRCm39) I1478N probably damaging Het
Ccdc113 T A 8: 96,285,366 (GRCm39) M350K possibly damaging Het
Cdc42bpa A T 1: 179,896,884 (GRCm39) H389L probably damaging Het
Cnn3 G T 3: 121,248,718 (GRCm39) M208I probably damaging Het
Col11a1 A G 3: 113,890,698 (GRCm39) D345G unknown Het
Degs1l A G 1: 180,882,358 (GRCm39) D40G probably damaging Het
Dnah14 G T 1: 181,582,853 (GRCm39) V3131F probably damaging Het
Dst T A 1: 34,230,933 (GRCm39) M2842K probably benign Het
Dus3l C T 17: 57,074,058 (GRCm39) Q211* probably null Het
Eftud2 A G 11: 102,758,685 (GRCm39) F171S probably benign Het
Elac2 T C 11: 64,871,440 (GRCm39) I117T probably benign Het
Fam13b A G 18: 34,606,686 (GRCm39) C302R possibly damaging Het
Fbxl5 G A 5: 43,916,087 (GRCm39) Q442* probably null Het
Fhdc1 A G 3: 84,358,790 (GRCm39) S370P probably damaging Het
Gtf3c6 T C 10: 40,133,469 (GRCm39) probably null Het
I830077J02Rik A G 3: 105,835,314 (GRCm39) V21A probably benign Het
Inf2 G T 12: 112,568,074 (GRCm39) E209* probably null Het
Irag1 A G 7: 110,498,879 (GRCm39) probably null Het
Irs1 A T 1: 82,267,460 (GRCm39) M252K probably damaging Het
Kcng3 C A 17: 83,938,516 (GRCm39) V178L probably damaging Het
Kif16b A C 2: 142,743,285 (GRCm39) S3A probably benign Het
Kit T C 5: 75,813,465 (GRCm39) M884T probably damaging Het
Kmt2a A T 9: 44,730,587 (GRCm39) probably benign Het
Kptn T C 7: 15,857,901 (GRCm39) I243T probably benign Het
Loxhd1 G A 18: 77,468,192 (GRCm39) E947K possibly damaging Het
Lyl1 A T 8: 85,429,476 (GRCm39) I62L probably damaging Het
Mmp24 C T 2: 155,655,965 (GRCm39) R468* probably null Het
Mtx2 G A 2: 74,706,714 (GRCm39) D230N probably benign Het
Ndufa5 A T 6: 24,522,757 (GRCm39) Y28* probably null Het
Notch4 G T 17: 34,803,774 (GRCm39) E1515* probably null Het
Nrxn3 A G 12: 90,171,438 (GRCm39) N923S probably benign Het
Ogfod2 C T 5: 124,251,538 (GRCm39) T116M possibly damaging Het
Oosp1 T C 19: 11,645,118 (GRCm39) E182G possibly damaging Het
Or4c115 A G 2: 88,928,187 (GRCm39) V28A probably benign Het
Or5p67 T A 7: 107,922,113 (GRCm39) T257S probably benign Het
Or7g20 A T 9: 18,946,871 (GRCm39) I151F probably benign Het
Or7g28 A C 9: 19,272,504 (GRCm39) V49G probably damaging Het
Oxnad1 C A 14: 31,814,048 (GRCm39) T47K possibly damaging Het
Pcdha5 A G 18: 37,095,791 (GRCm39) M767V possibly damaging Het
Pcnx3 A T 19: 5,715,773 (GRCm39) H1444Q probably benign Het
Pde4dip G T 3: 97,604,309 (GRCm39) Q2224K probably benign Het
Pgr A T 9: 8,956,341 (GRCm39) H763L possibly damaging Het
Plec T C 15: 76,058,510 (GRCm39) D3809G probably damaging Het
Ppfia1 A G 7: 144,074,430 (GRCm39) S155P probably damaging Het
Ppfia4 A G 1: 134,228,266 (GRCm39) V1090A probably benign Het
Ptgdr T C 14: 45,096,142 (GRCm39) E190G probably benign Het
Rhbdd2 T A 5: 135,665,189 (GRCm39) C173* probably null Het
Rhobtb1 C A 10: 69,102,120 (GRCm39) P134T probably damaging Het
Slc25a36 A T 9: 96,962,505 (GRCm39) F161L probably benign Het
Slc5a11 A G 7: 122,869,199 (GRCm39) T596A probably benign Het
Slco1a6 T C 6: 142,035,626 (GRCm39) Y566C probably damaging Het
Snx15 T G 19: 6,169,945 (GRCm39) K321T probably damaging Het
Snx15 T C 19: 6,169,946 (GRCm39) K321E probably damaging Het
Syt8 T C 7: 141,992,005 (GRCm39) I32T probably benign Het
Thumpd1 T C 7: 119,319,808 (GRCm39) N53D possibly damaging Het
Timm21 T C 18: 84,969,263 (GRCm39) T54A probably benign Het
Tmed10 A G 12: 85,391,091 (GRCm39) V149A probably damaging Het
Tmem108 T A 9: 103,377,084 (GRCm39) M122L probably benign Het
Tram1l1 A G 3: 124,115,436 (GRCm39) I199V probably benign Het
Tspan8 A G 10: 115,675,802 (GRCm39) N156S probably benign Het
Vamp9 A G 5: 100,072,785 (GRCm39) I111V probably benign Het
Vars1 T C 17: 35,230,480 (GRCm39) V521A probably benign Het
Vmn2r54 G T 7: 12,349,743 (GRCm39) T613N possibly damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Vps33a T C 5: 123,672,015 (GRCm39) K451R probably benign Het
Vsig10l T C 7: 43,113,153 (GRCm39) I35T probably benign Het
Xpnpep3 T A 15: 81,332,660 (GRCm39) L399Q probably damaging Het
Zfp438 T C 18: 5,214,013 (GRCm39) E315G probably benign Het
Zfp467 C T 6: 48,416,268 (GRCm39) G128D probably damaging Het
Other mutations in Srebf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Srebf2 APN 15 82,076,404 (GRCm39) unclassified probably benign
IGL01409:Srebf2 APN 15 82,055,419 (GRCm39) missense probably damaging 1.00
IGL01415:Srebf2 APN 15 82,061,663 (GRCm39) missense probably benign 0.08
IGL01614:Srebf2 APN 15 82,063,054 (GRCm39) missense probably benign
IGL01985:Srebf2 APN 15 82,076,560 (GRCm39) missense probably benign 0.01
IGL02423:Srebf2 APN 15 82,059,298 (GRCm39) missense probably damaging 1.00
IGL02436:Srebf2 APN 15 82,081,928 (GRCm39) missense probably benign 0.41
IGL02805:Srebf2 APN 15 82,054,045 (GRCm39) missense probably benign 0.00
IGL02818:Srebf2 APN 15 82,069,575 (GRCm39) missense probably damaging 0.99
IGL02823:Srebf2 APN 15 82,083,975 (GRCm39) missense possibly damaging 0.87
IGL02895:Srebf2 APN 15 82,031,668 (GRCm39) missense possibly damaging 0.72
IGL03064:Srebf2 APN 15 82,076,423 (GRCm39) missense probably benign 0.01
IGL03378:Srebf2 APN 15 82,053,989 (GRCm39) missense probably damaging 1.00
FR4449:Srebf2 UTSW 15 82,069,536 (GRCm39) missense probably damaging 1.00
FR4548:Srebf2 UTSW 15 82,069,536 (GRCm39) missense probably damaging 1.00
FR4737:Srebf2 UTSW 15 82,069,536 (GRCm39) missense probably damaging 1.00
FR4976:Srebf2 UTSW 15 82,069,536 (GRCm39) missense probably damaging 1.00
R0230:Srebf2 UTSW 15 82,066,286 (GRCm39) missense probably damaging 1.00
R0702:Srebf2 UTSW 15 82,061,610 (GRCm39) missense probably damaging 1.00
R0829:Srebf2 UTSW 15 82,061,790 (GRCm39) critical splice donor site probably null
R1241:Srebf2 UTSW 15 82,061,720 (GRCm39) missense probably damaging 1.00
R1898:Srebf2 UTSW 15 82,087,936 (GRCm39) missense probably damaging 1.00
R1957:Srebf2 UTSW 15 82,079,155 (GRCm39) missense probably benign 0.26
R2395:Srebf2 UTSW 15 82,076,456 (GRCm39) missense probably benign 0.26
R3771:Srebf2 UTSW 15 82,066,309 (GRCm39) missense probably benign 0.02
R3772:Srebf2 UTSW 15 82,066,309 (GRCm39) missense probably benign 0.02
R3773:Srebf2 UTSW 15 82,066,309 (GRCm39) missense probably benign 0.02
R4030:Srebf2 UTSW 15 82,062,984 (GRCm39) missense probably damaging 1.00
R4613:Srebf2 UTSW 15 82,069,549 (GRCm39) missense possibly damaging 0.94
R4670:Srebf2 UTSW 15 82,076,503 (GRCm39) missense probably damaging 1.00
R4758:Srebf2 UTSW 15 82,080,370 (GRCm39) missense probably benign 0.01
R4812:Srebf2 UTSW 15 82,088,026 (GRCm39) missense probably damaging 0.98
R5058:Srebf2 UTSW 15 82,066,251 (GRCm39) missense probably damaging 0.99
R5063:Srebf2 UTSW 15 82,061,652 (GRCm39) missense probably benign
R5155:Srebf2 UTSW 15 82,080,427 (GRCm39) missense probably damaging 1.00
R5166:Srebf2 UTSW 15 82,069,603 (GRCm39) missense probably damaging 1.00
R5330:Srebf2 UTSW 15 82,080,409 (GRCm39) missense possibly damaging 0.88
R5398:Srebf2 UTSW 15 82,055,443 (GRCm39) missense probably damaging 1.00
R5662:Srebf2 UTSW 15 82,079,204 (GRCm39) missense probably benign 0.01
R5668:Srebf2 UTSW 15 82,076,456 (GRCm39) missense probably benign 0.26
R5867:Srebf2 UTSW 15 82,053,987 (GRCm39) missense probably damaging 1.00
R6030:Srebf2 UTSW 15 82,061,477 (GRCm39) splice site probably null
R6030:Srebf2 UTSW 15 82,061,477 (GRCm39) splice site probably null
R6928:Srebf2 UTSW 15 82,087,924 (GRCm39) nonsense probably null
R7269:Srebf2 UTSW 15 82,088,270 (GRCm39) missense probably benign 0.00
R7464:Srebf2 UTSW 15 82,057,075 (GRCm39) missense probably damaging 0.97
R7632:Srebf2 UTSW 15 82,069,497 (GRCm39) missense probably benign
R7831:Srebf2 UTSW 15 82,066,288 (GRCm39) missense probably damaging 0.98
R7895:Srebf2 UTSW 15 82,061,441 (GRCm39) missense probably benign 0.02
R7938:Srebf2 UTSW 15 82,057,016 (GRCm39) missense probably damaging 1.00
R7974:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R7991:Srebf2 UTSW 15 82,088,253 (GRCm39) missense probably damaging 1.00
R8002:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R8022:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R8137:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R8138:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R9094:Srebf2 UTSW 15 82,056,975 (GRCm39) missense possibly damaging 0.88
R9188:Srebf2 UTSW 15 82,066,357 (GRCm39) missense probably benign 0.00
R9284:Srebf2 UTSW 15 82,066,357 (GRCm39) missense probably benign 0.00
R9366:Srebf2 UTSW 15 82,083,837 (GRCm39) missense probably benign 0.00
R9727:Srebf2 UTSW 15 82,076,506 (GRCm39) missense possibly damaging 0.50
X0064:Srebf2 UTSW 15 82,059,421 (GRCm39) missense probably damaging 1.00
Z1088:Srebf2 UTSW 15 82,079,122 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCAACTGGAGTCTTTCTGAC -3'
(R):5'- AACCCAAGCCAGCATTAGGG -3'

Sequencing Primer
(F):5'- TAGAATGAACTCTGTCGGCC -3'
(R):5'- GGGACCCACCTACCTGACTC -3'
Posted On 2020-06-30