Incidental Mutation 'R7569:Srebf1'
ID 585651
Institutional Source Beutler Lab
Gene Symbol Srebf1
Ensembl Gene ENSMUSG00000020538
Gene Name sterol regulatory element binding transcription factor 1
Synonyms SREBP1c, bHLHd1, SREBP1, ADD-1, SREBP-1c, SREBP-1, SREBP-1a
MMRRC Submission 045657-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7569 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 60089915-60113407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 60090947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1069 (T1069K)
Ref Sequence ENSEMBL: ENSMUSP00000020846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020846] [ENSMUST00000064190] [ENSMUST00000102688] [ENSMUST00000144942] [ENSMUST00000171108]
AlphaFold Q9WTN3
Predicted Effect possibly damaging
Transcript: ENSMUST00000020846
AA Change: T1069K

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020846
Gene: ENSMUSG00000020538
AA Change: T1069K

DomainStartEndE-ValueType
low complexity region 70 85 N/A INTRINSIC
low complexity region 92 105 N/A INTRINSIC
low complexity region 180 198 N/A INTRINSIC
low complexity region 203 217 N/A INTRINSIC
low complexity region 225 235 N/A INTRINSIC
HLH 323 373 6.71e-16 SMART
low complexity region 420 453 N/A INTRINSIC
transmembrane domain 480 502 N/A INTRINSIC
transmembrane domain 533 555 N/A INTRINSIC
low complexity region 589 601 N/A INTRINSIC
low complexity region 650 661 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
low complexity region 1113 1125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064190
SMART Domains Protein: ENSMUSP00000070896
Gene: ENSMUSG00000062115

DomainStartEndE-ValueType
low complexity region 55 69 N/A INTRINSIC
low complexity region 115 129 N/A INTRINSIC
low complexity region 168 175 N/A INTRINSIC
low complexity region 294 304 N/A INTRINSIC
low complexity region 322 336 N/A INTRINSIC
low complexity region 409 424 N/A INTRINSIC
low complexity region 699 708 N/A INTRINSIC
low complexity region 836 842 N/A INTRINSIC
low complexity region 1015 1030 N/A INTRINSIC
low complexity region 1049 1064 N/A INTRINSIC
low complexity region 1084 1102 N/A INTRINSIC
low complexity region 1262 1272 N/A INTRINSIC
low complexity region 1375 1388 N/A INTRINSIC
low complexity region 1455 1465 N/A INTRINSIC
low complexity region 1499 1515 N/A INTRINSIC
low complexity region 1597 1609 N/A INTRINSIC
low complexity region 1680 1690 N/A INTRINSIC
low complexity region 1714 1732 N/A INTRINSIC
PHD 1838 1885 3.59e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102688
SMART Domains Protein: ENSMUSP00000099749
Gene: ENSMUSG00000062115

DomainStartEndE-ValueType
low complexity region 55 69 N/A INTRINSIC
low complexity region 115 129 N/A INTRINSIC
low complexity region 168 175 N/A INTRINSIC
low complexity region 294 304 N/A INTRINSIC
low complexity region 322 336 N/A INTRINSIC
low complexity region 409 424 N/A INTRINSIC
low complexity region 699 708 N/A INTRINSIC
low complexity region 836 842 N/A INTRINSIC
low complexity region 1015 1030 N/A INTRINSIC
low complexity region 1049 1064 N/A INTRINSIC
low complexity region 1084 1102 N/A INTRINSIC
low complexity region 1262 1272 N/A INTRINSIC
low complexity region 1375 1388 N/A INTRINSIC
low complexity region 1455 1465 N/A INTRINSIC
low complexity region 1499 1515 N/A INTRINSIC
low complexity region 1597 1609 N/A INTRINSIC
low complexity region 1680 1690 N/A INTRINSIC
low complexity region 1714 1732 N/A INTRINSIC
PHD 1838 1885 3.59e-6 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000122934
Gene: ENSMUSG00000020538
AA Change: T1010K

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 39 52 N/A INTRINSIC
low complexity region 127 145 N/A INTRINSIC
low complexity region 150 164 N/A INTRINSIC
low complexity region 172 182 N/A INTRINSIC
HLH 265 315 6.71e-16 SMART
low complexity region 362 395 N/A INTRINSIC
transmembrane domain 422 444 N/A INTRINSIC
transmembrane domain 475 497 N/A INTRINSIC
low complexity region 531 543 N/A INTRINSIC
low complexity region 592 603 N/A INTRINSIC
low complexity region 621 634 N/A INTRINSIC
low complexity region 1055 1067 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144942
SMART Domains Protein: ENSMUSP00000120777
Gene: ENSMUSG00000020538

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
low complexity region 68 81 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
low complexity region 179 193 N/A INTRINSIC
low complexity region 201 211 N/A INTRINSIC
HLH 299 349 6.71e-16 SMART
low complexity region 396 429 N/A INTRINSIC
transmembrane domain 456 478 N/A INTRINSIC
transmembrane domain 509 531 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 626 637 N/A INTRINSIC
low complexity region 655 668 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171108
SMART Domains Protein: ENSMUSP00000126183
Gene: ENSMUSG00000062115

DomainStartEndE-ValueType
low complexity region 55 69 N/A INTRINSIC
low complexity region 115 129 N/A INTRINSIC
low complexity region 168 175 N/A INTRINSIC
low complexity region 294 304 N/A INTRINSIC
low complexity region 322 336 N/A INTRINSIC
low complexity region 409 424 N/A INTRINSIC
low complexity region 699 708 N/A INTRINSIC
low complexity region 836 842 N/A INTRINSIC
low complexity region 1015 1030 N/A INTRINSIC
low complexity region 1049 1064 N/A INTRINSIC
low complexity region 1084 1102 N/A INTRINSIC
low complexity region 1262 1272 N/A INTRINSIC
low complexity region 1375 1388 N/A INTRINSIC
low complexity region 1455 1465 N/A INTRINSIC
low complexity region 1499 1515 N/A INTRINSIC
low complexity region 1597 1609 N/A INTRINSIC
low complexity region 1680 1690 N/A INTRINSIC
low complexity region 1714 1732 N/A INTRINSIC
PHD 1838 1885 3.59e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele of transcript A die between E11.5 and E14.5. Mice homozygous for a knock-out allele of transcript C exhibit decreased circulating triglyceride levels. Mice homozygous for a gene trap allele exhibit decreased hepatictriglyceride storage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182O14Rik A T 15: 40,008,344 (GRCm39) T73S unknown Het
Acvrl1 A G 15: 101,033,636 (GRCm39) Q106R probably benign Het
Adgb A T 10: 10,306,996 (GRCm39) D329E probably benign Het
Ankrd12 A T 17: 66,289,900 (GRCm39) D1844E probably damaging Het
Ankub1 G A 3: 57,573,039 (GRCm39) R228* probably null Het
Apol6 A C 15: 76,934,898 (GRCm39) probably benign Het
Ascc2 G A 11: 4,629,506 (GRCm39) V618M probably damaging Het
Asic3 A G 5: 24,619,046 (GRCm39) T113A probably benign Het
BC034090 T A 1: 155,093,151 (GRCm39) H769L probably benign Het
Bcl11a G T 11: 24,035,458 (GRCm39) E65* probably null Het
Birc6 G T 17: 74,905,077 (GRCm39) R1290L possibly damaging Het
C6 A G 15: 4,819,063 (GRCm39) E465G probably benign Het
Cav2 T A 6: 17,282,078 (GRCm39) I112N probably damaging Het
Cep131 G A 11: 119,957,539 (GRCm39) A848V probably damaging Het
Col8a1 T A 16: 57,447,555 (GRCm39) I652F unknown Het
Cul4a A G 8: 13,173,493 (GRCm39) N180S probably benign Het
Dhx38 A G 8: 110,287,327 (GRCm39) S214P probably damaging Het
Dmxl2 A G 9: 54,323,271 (GRCm39) V1197A possibly damaging Het
Dynlt1f A G 17: 6,923,181 (GRCm39) S7P not run Het
Eef1ece2 T A 16: 20,461,237 (GRCm39) Y641* probably null Het
Epha1 T A 6: 42,342,356 (GRCm39) T331S possibly damaging Het
Hus1b A G 13: 31,130,847 (GRCm39) Y271H probably damaging Het
Kmt2b A G 7: 30,268,978 (GRCm39) V2610A possibly damaging Het
Lama2 A G 10: 27,141,046 (GRCm39) L651P probably damaging Het
Lgr5 T C 10: 115,298,661 (GRCm39) Y361C probably damaging Het
Map1s T C 8: 71,366,142 (GRCm39) V349A probably benign Het
Map3k6 A G 4: 132,977,388 (GRCm39) R912G probably benign Het
Mtarc2 A T 1: 184,573,622 (GRCm39) F92Y possibly damaging Het
Nampt T A 12: 32,900,433 (GRCm39) H459Q probably benign Het
Nlrp1a T C 11: 70,999,869 (GRCm39) M817V probably benign Het
Npsr1 A G 9: 24,225,026 (GRCm39) R345G probably benign Het
Nuak2 G A 1: 132,244,019 (GRCm39) A18T possibly damaging Het
Or4d6 T C 19: 12,086,385 (GRCm39) D175G possibly damaging Het
Or5ak23 A G 2: 85,244,479 (GRCm39) V248A probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Ppp4r3b T C 11: 29,138,540 (GRCm39) F296S possibly damaging Het
Pramel51 A T 12: 88,143,085 (GRCm39) Y373N probably benign Het
Pycr2 T C 1: 180,732,083 (GRCm39) F19L probably benign Het
Robo2 T A 16: 73,832,003 (GRCm39) T226S possibly damaging Het
Rock1 A T 18: 10,140,194 (GRCm39) N132K probably damaging Het
Rp1 A T 1: 4,355,063 (GRCm39) L379Q unknown Het
Sema6d A G 2: 124,499,892 (GRCm39) I323V possibly damaging Het
Slc12a4 A G 8: 106,672,479 (GRCm39) I814T probably damaging Het
Slc18a2 G A 19: 59,272,584 (GRCm39) G352R probably damaging Het
Slc39a14 T C 14: 70,547,276 (GRCm39) T357A possibly damaging Het
Smarcad1 T A 6: 65,029,695 (GRCm39) D94E probably benign Het
Sorcs2 A G 5: 36,183,220 (GRCm39) Y1018H probably benign Het
St3gal3 A G 4: 117,821,553 (GRCm39) V123A probably benign Het
Stradb A G 1: 59,030,310 (GRCm39) Y188C unknown Het
Styxl2 T C 1: 165,935,604 (GRCm39) D198G probably damaging Het
Sult2a2 T C 7: 13,513,430 (GRCm39) F186L probably benign Het
Syne2 A G 12: 75,974,164 (GRCm39) T1120A probably benign Het
Taok1 A T 11: 77,446,440 (GRCm39) S430T probably benign Het
Tmem62 A T 2: 120,837,411 (GRCm39) I573L probably benign Het
Trav9-1 T C 14: 53,725,581 (GRCm39) S7P probably benign Het
U2af1l4 A T 7: 30,262,982 (GRCm39) I24F probably damaging Het
Usp33 T A 3: 152,097,302 (GRCm39) I840N probably damaging Het
Vmn2r74 A C 7: 85,601,544 (GRCm39) I698S probably damaging Het
Zfp352 C T 4: 90,111,896 (GRCm39) P12L possibly damaging Het
Zfp507 T A 7: 35,493,969 (GRCm39) E358V probably damaging Het
Other mutations in Srebf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Srebf1 APN 11 60,095,965 (GRCm39) missense probably damaging 0.96
IGL00774:Srebf1 APN 11 60,095,965 (GRCm39) missense probably damaging 0.96
IGL01824:Srebf1 APN 11 60,094,957 (GRCm39) missense probably benign 0.01
IGL02097:Srebf1 APN 11 60,093,650 (GRCm39) missense probably damaging 1.00
IGL02808:Srebf1 APN 11 60,092,539 (GRCm39) critical splice acceptor site probably null
IGL03036:Srebf1 APN 11 60,111,284 (GRCm39) missense possibly damaging 0.85
IGL03055:Srebf1 UTSW 11 60,097,902 (GRCm39) synonymous silent
R0109:Srebf1 UTSW 11 60,092,630 (GRCm39) missense probably benign 0.21
R0109:Srebf1 UTSW 11 60,092,630 (GRCm39) missense probably benign 0.21
R0550:Srebf1 UTSW 11 60,092,502 (GRCm39) missense probably benign 0.00
R0654:Srebf1 UTSW 11 60,094,942 (GRCm39) missense probably benign
R0707:Srebf1 UTSW 11 60,094,942 (GRCm39) missense probably benign
R1466:Srebf1 UTSW 11 60,091,528 (GRCm39) missense probably benign 0.01
R1466:Srebf1 UTSW 11 60,091,528 (GRCm39) missense probably benign 0.01
R1584:Srebf1 UTSW 11 60,091,528 (GRCm39) missense probably benign 0.01
R1899:Srebf1 UTSW 11 60,094,312 (GRCm39) missense probably damaging 1.00
R1900:Srebf1 UTSW 11 60,094,312 (GRCm39) missense probably damaging 1.00
R1905:Srebf1 UTSW 11 60,095,319 (GRCm39) missense probably damaging 1.00
R2172:Srebf1 UTSW 11 60,097,328 (GRCm39) missense probably benign
R2191:Srebf1 UTSW 11 60,111,365 (GRCm39) missense probably damaging 1.00
R2267:Srebf1 UTSW 11 60,097,973 (GRCm39) missense probably damaging 0.99
R2268:Srebf1 UTSW 11 60,097,973 (GRCm39) missense probably damaging 0.99
R5511:Srebf1 UTSW 11 60,101,184 (GRCm39) utr 5 prime probably benign
R5841:Srebf1 UTSW 11 60,094,410 (GRCm39) missense possibly damaging 0.65
R5870:Srebf1 UTSW 11 60,094,410 (GRCm39) missense possibly damaging 0.65
R6003:Srebf1 UTSW 11 60,097,930 (GRCm39) missense possibly damaging 0.82
R6371:Srebf1 UTSW 11 60,094,341 (GRCm39) missense probably damaging 1.00
R6376:Srebf1 UTSW 11 60,094,361 (GRCm39) missense probably null 0.19
R7009:Srebf1 UTSW 11 60,091,352 (GRCm39) missense probably damaging 1.00
R7029:Srebf1 UTSW 11 60,097,810 (GRCm39) missense probably damaging 1.00
R7410:Srebf1 UTSW 11 60,096,693 (GRCm39) missense probably benign 0.03
R8317:Srebf1 UTSW 11 60,091,483 (GRCm39) missense possibly damaging 0.62
R8370:Srebf1 UTSW 11 60,093,022 (GRCm39) missense probably benign
R8871:Srebf1 UTSW 11 60,091,595 (GRCm39) missense probably benign
R9433:Srebf1 UTSW 11 60,095,015 (GRCm39) missense possibly damaging 0.63
R9582:Srebf1 UTSW 11 60,097,868 (GRCm39) missense probably benign 0.00
RF009:Srebf1 UTSW 11 60,094,942 (GRCm39) missense probably benign
X0017:Srebf1 UTSW 11 60,093,707 (GRCm39) missense probably damaging 0.96
X0025:Srebf1 UTSW 11 60,094,253 (GRCm39) missense probably benign 0.00
Z1176:Srebf1 UTSW 11 60,097,982 (GRCm39) missense possibly damaging 0.95
Z1186:Srebf1 UTSW 11 60,097,061 (GRCm39) missense probably benign 0.03
Z1187:Srebf1 UTSW 11 60,097,061 (GRCm39) missense probably benign 0.03
Z1188:Srebf1 UTSW 11 60,097,061 (GRCm39) missense probably benign 0.03
Z1189:Srebf1 UTSW 11 60,097,061 (GRCm39) missense probably benign 0.03
Z1190:Srebf1 UTSW 11 60,097,061 (GRCm39) missense probably benign 0.03
Z1191:Srebf1 UTSW 11 60,097,061 (GRCm39) missense probably benign 0.03
Z1192:Srebf1 UTSW 11 60,097,061 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGAAAGCTTTGGGGTCTAGC -3'
(R):5'- TAGGAAAGAAGCTGAGCCCC -3'

Sequencing Primer
(F):5'- AAAGCTTTGGGGTCTAGCTGGAAG -3'
(R):5'- CCCCCTGTGTGCCCAGC -3'
Posted On 2019-10-17