Incidental Mutation 'R7269:Srebf2'
ID 565180
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 045320-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7269 (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 A at 82088270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 1079 (P1079T)
Ref Sequence ENSEMBL: ENSMUSP00000155022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023100] [ENSMUST00000179269] [ENSMUST00000229336] [ENSMUST00000229543]
AlphaFold Q3U1N2
Predicted Effect probably benign
Transcript: ENSMUST00000023100
SMART Domains Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463

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 benign
Transcript: ENSMUST00000179269
SMART Domains Protein: ENSMUSP00000137002
Gene: ENSMUSG00000096883

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:Shisa 55 189 1.7e-33 PFAM
low complexity region 234 246 N/A INTRINSIC
low complexity region 255 268 N/A INTRINSIC
low complexity region 310 328 N/A INTRINSIC
low complexity region 349 360 N/A INTRINSIC
low complexity region 370 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229336
AA Change: P1079T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000229543
Predicted Effect probably benign
Transcript: ENSMUST00000230955
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (85/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A T 18: 24,606,013 (GRCm39) N36I probably damaging Het
A430033K04Rik T A 5: 138,645,014 (GRCm39) Y300N possibly damaging Het
Adipor2 T C 6: 119,347,205 (GRCm39) Q26R probably benign Het
Ahnak T A 19: 8,983,981 (GRCm39) M1755K probably damaging Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
AI837181 C A 19: 5,476,462 (GRCm39) S208R probably damaging Het
Arhgap35 T G 7: 16,295,652 (GRCm39) M1138L probably benign Het
Card14 T G 11: 119,228,573 (GRCm39) L633R probably damaging Het
Carmil3 A G 14: 55,731,352 (GRCm39) T144A probably benign Het
Cbfa2t2 T A 2: 154,357,895 (GRCm39) N223K probably benign Het
Ccdc39 T C 3: 33,884,254 (GRCm39) I363V probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ccpg1 G T 9: 72,920,609 (GRCm39) R741S probably benign Het
Cenpc1 A G 5: 86,161,366 (GRCm39) F855L probably damaging Het
Cenpc1 A T 5: 86,180,277 (GRCm39) M665K probably benign Het
Cp A G 3: 20,037,641 (GRCm39) H832R probably damaging Het
Defa24 A G 8: 22,224,565 (GRCm39) I5V probably benign Het
Dlc1 A C 8: 37,046,407 (GRCm39) L730R probably damaging Het
Dmbt1 A T 7: 130,668,351 (GRCm39) I536F unknown Het
Dscam G A 16: 96,479,601 (GRCm39) T1182I probably benign Het
Eea1 A T 10: 95,854,000 (GRCm39) I553F probably damaging Het
Far1 T C 7: 113,160,654 (GRCm39) V400A probably benign Het
Fbrsl1 A T 5: 110,580,880 (GRCm39) S126T probably benign Het
Frmpd2 A T 14: 33,244,838 (GRCm39) E552V possibly damaging Het
Gm5431 T A 11: 48,779,237 (GRCm39) T562S probably benign Het
Gm5475 T C 15: 100,324,890 (GRCm39) F106S unknown Het
Gpr12 T C 5: 146,520,188 (GRCm39) T245A probably damaging Het
Gsta2 A G 9: 78,239,419 (GRCm39) Y166H probably benign Het
H6pd A G 4: 150,067,369 (GRCm39) V347A probably benign Het
Ifih1 T C 2: 62,475,977 (GRCm39) T100A probably benign Het
Ift70b A G 2: 75,767,838 (GRCm39) F305S probably damaging Het
Itga2 C T 13: 115,023,225 (GRCm39) W59* probably null Het
Knstrn T A 2: 118,661,869 (GRCm39) probably null Het
Kprp A G 3: 92,731,178 (GRCm39) V624A probably damaging Het
Lmbrd2 A G 15: 9,194,771 (GRCm39) Y591C probably damaging Het
Map7d1 A G 4: 126,126,666 (GRCm39) V842A unknown Het
Mboat2 A T 12: 24,881,708 (GRCm39) T4S probably benign Het
Mcph1 T A 8: 18,657,288 (GRCm39) probably null Het
Mrtfb A T 16: 13,218,898 (GRCm39) M515L possibly damaging Het
Muc5b A G 7: 141,411,272 (GRCm39) D1406G unknown Het
Mylk G A 16: 34,605,381 (GRCm39) G3D probably damaging Het
Ndst4 A G 3: 125,232,007 (GRCm39) D192G probably damaging Het
Nemp1 G T 10: 127,531,345 (GRCm39) R361L probably damaging Het
Nol4 A C 18: 23,172,846 (GRCm39) V85G probably benign Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Obscn T C 11: 58,933,838 (GRCm39) E5342G probably damaging Het
Or10al7 C A 17: 38,366,442 (GRCm39) C5F probably damaging Het
Or4f47 T A 2: 111,972,905 (GRCm39) F205Y probably damaging Het
Or4p19 C T 2: 88,242,839 (GRCm39) M54I possibly damaging Het
Or51d1 T G 7: 102,348,252 (GRCm39) L269R probably damaging Het
Or7d10 A G 9: 19,831,631 (GRCm39) N42S possibly damaging Het
Pakap G T 4: 57,855,217 (GRCm39) R182L probably damaging Het
Pde4dip A G 3: 97,674,275 (GRCm39) S214P probably damaging Het
Per3 A T 4: 151,116,393 (GRCm39) C278* probably null Het
Pi4k2a T C 19: 42,079,125 (GRCm39) L62P probably damaging Het
Plekha7 C A 7: 115,780,447 (GRCm39) G126W probably damaging Het
Ppp1r13b T C 12: 111,801,353 (GRCm39) K567E probably damaging Het
Pradc1 T A 6: 85,424,548 (GRCm39) Q134L probably benign Het
Pwp2 A G 10: 78,012,170 (GRCm39) F628L probably benign Het
Rab5c C T 11: 100,606,928 (GRCm39) G217D probably benign Het
Rad51ap2 G T 12: 11,506,807 (GRCm39) S243I possibly damaging Het
Rasgrp4 C A 7: 28,847,855 (GRCm39) R432S probably damaging Het
Rhot2 C T 17: 26,061,402 (GRCm39) probably null Het
Scn2a T A 2: 65,594,113 (GRCm39) L1654Q probably damaging Het
Skint6 A T 4: 112,711,686 (GRCm39) probably null Het
Slc22a28 T A 19: 8,094,491 (GRCm39) T177S probably benign Het
Slc25a24 G T 3: 109,065,960 (GRCm39) Q272H probably null Het
Slc3a1 A T 17: 85,339,873 (GRCm39) I144F probably damaging Het
Smg9 C T 7: 24,105,495 (GRCm39) R176C possibly damaging Het
Sorl1 A T 9: 41,948,499 (GRCm39) L762Q probably damaging Het
Sub1 A T 15: 11,993,937 (GRCm39) S4T probably benign Het
Tacr1 A T 6: 82,469,692 (GRCm39) Y192F probably benign Het
Tm4sf19 A T 16: 32,224,814 (GRCm39) H54L probably damaging Het
Tnxb T C 17: 34,914,428 (GRCm39) L1838P probably damaging Het
Trmt1l T C 1: 151,333,539 (GRCm39) S681P possibly damaging Het
Ttn A G 2: 76,738,176 (GRCm39) V4167A unknown Het
Unc13d T A 11: 115,959,056 (GRCm39) M702L probably benign Het
Vgll3 A G 16: 65,636,404 (GRCm39) H240R probably benign Het
Vmn1r189 C G 13: 22,286,737 (GRCm39) W33C probably benign Het
Vmn2r17 G A 5: 109,576,337 (GRCm39) A403T possibly damaging Het
Vmn2r2 G A 3: 64,033,998 (GRCm39) T508I probably benign Het
Vps54 T A 11: 21,227,670 (GRCm39) probably null Het
Wfs1 G A 5: 37,125,134 (GRCm39) Q586* probably null Het
Zbp1 A T 2: 173,055,665 (GRCm39) H166Q unknown Het
Zcchc3 G A 2: 152,256,294 (GRCm39) A135V probably benign Het
Zfp51 T C 17: 21,683,960 (GRCm39) Y192H probably benign Het
Zkscan2 T C 7: 123,088,994 (GRCm39) T426A probably benign 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
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
R8139: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'- TGACTGCCAGCAGATGATTG -3'
(R):5'- AGACAGTCTCTAGAGGACTGGG -3'

Sequencing Primer
(F):5'- CTGCCAGCAGATGATTGTCAAGC -3'
(R):5'- TCTCTAGAGGACTGGGAGGGG -3'
Posted On 2019-06-26