Incidental Mutation 'IGL02823:Srebf2'
ID361101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srebf2
Ensembl Gene ENSMUSG00000022463
Gene Namesterol regulatory element binding factor 2
Synonymsnuc, bHLHd2, lop13, SREBP-2, SREBP2gc, SREBP2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02823
Quality Score
Status
Chromosome15
Chromosomal Location82147181-82205379 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 82199774 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 965 (G965D)
Ref Sequence ENSEMBL: ENSMUSP00000155022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023100] [ENSMUST00000229336]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023100
AA Change: G1005D

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: G1005D

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 noncoding transcript
Transcript: ENSMUST00000083531
Predicted Effect possibly damaging
Transcript: ENSMUST00000229336
AA Change: G965D

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect unknown
Transcript: ENSMUST00000230955
AA Change: G153D
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,261,955 S194P probably damaging Het
3110043O21Rik A T 4: 35,213,031 C215S probably damaging Het
Abca7 T A 10: 80,008,822 D1488E probably damaging Het
Abhd18 A G 3: 40,933,518 probably benign Het
Atp6ap1l A G 13: 90,899,525 V56A probably benign Het
Atrip A G 9: 109,061,178 Y631H probably damaging Het
Dst A T 1: 34,192,083 H3097L possibly damaging Het
Ear1 G T 14: 43,819,045 S122* probably null Het
Eif2a G T 3: 58,548,671 A364S probably benign Het
Eps8l2 A T 7: 141,342,075 D22V probably damaging Het
Fam84b T C 15: 60,823,123 D258G probably damaging Het
Fndc7 A G 3: 108,869,171 F432S probably damaging Het
Gemin5 T C 11: 58,167,705 probably benign Het
Grxcr2 T C 18: 41,991,981 K121E probably damaging Het
Gucy1a2 T C 9: 3,894,656 I713T possibly damaging Het
Hs3st1 A G 5: 39,614,757 L181P probably damaging Het
Ksr1 C A 11: 79,021,403 V627L probably benign Het
Lama2 T C 10: 27,001,145 N2682D probably damaging Het
Map3k19 G T 1: 127,822,264 H1117N probably benign Het
Mdc1 C T 17: 35,852,923 A1121V probably damaging Het
Nlrp1a C T 11: 71,092,423 S1239N probably damaging Het
Olfr322 T C 11: 58,665,967 M136T possibly damaging Het
Prkra G T 2: 76,630,424 A310E probably damaging Het
Prl2c1 T C 13: 27,856,433 probably benign Het
Prl7a2 T C 13: 27,662,751 Y93C possibly damaging Het
Prob1 A T 18: 35,652,747 V818E possibly damaging Het
Rbbp8 A G 18: 11,732,213 S720G possibly damaging Het
Rexo4 T C 2: 26,962,477 T149A probably benign Het
Slc39a2 T A 14: 51,895,412 Y271N probably damaging Het
Sprr2d T A 3: 92,340,427 C58* probably null Het
Tcof1 T C 18: 60,816,048 E1265G probably benign Het
Terf2 T C 8: 107,072,625 N389S possibly damaging Het
Vsig10l T C 7: 43,466,464 S410P probably damaging Het
Vwa3b A T 1: 37,186,904 probably benign Het
Other mutations in Srebf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Srebf2 APN 15 82192203 unclassified probably benign
IGL01409:Srebf2 APN 15 82171218 missense probably damaging 1.00
IGL01415:Srebf2 APN 15 82177462 missense probably benign 0.08
IGL01614:Srebf2 APN 15 82178853 missense probably benign
IGL01985:Srebf2 APN 15 82192359 missense probably benign 0.01
IGL02423:Srebf2 APN 15 82175097 missense probably damaging 1.00
IGL02436:Srebf2 APN 15 82197727 missense probably benign 0.41
IGL02805:Srebf2 APN 15 82169844 missense probably benign 0.00
IGL02818:Srebf2 APN 15 82185374 missense probably damaging 0.99
IGL02895:Srebf2 APN 15 82147467 missense possibly damaging 0.72
IGL03064:Srebf2 APN 15 82192222 missense probably benign 0.01
IGL03378:Srebf2 APN 15 82169788 missense probably damaging 1.00
FR4449:Srebf2 UTSW 15 82185335 missense probably damaging 1.00
FR4548:Srebf2 UTSW 15 82185335 missense probably damaging 1.00
FR4737:Srebf2 UTSW 15 82185335 missense probably damaging 1.00
FR4976:Srebf2 UTSW 15 82185335 missense probably damaging 1.00
R0230:Srebf2 UTSW 15 82182085 missense probably damaging 1.00
R0702:Srebf2 UTSW 15 82177409 missense probably damaging 1.00
R0829:Srebf2 UTSW 15 82177589 critical splice donor site probably null
R1241:Srebf2 UTSW 15 82177519 missense probably damaging 1.00
R1898:Srebf2 UTSW 15 82203735 missense probably damaging 1.00
R1957:Srebf2 UTSW 15 82194954 missense probably benign 0.26
R2395:Srebf2 UTSW 15 82192255 missense probably benign 0.26
R3771:Srebf2 UTSW 15 82182108 missense probably benign 0.02
R3772:Srebf2 UTSW 15 82182108 missense probably benign 0.02
R3773:Srebf2 UTSW 15 82182108 missense probably benign 0.02
R4030:Srebf2 UTSW 15 82178783 missense probably damaging 1.00
R4613:Srebf2 UTSW 15 82185348 missense possibly damaging 0.94
R4670:Srebf2 UTSW 15 82192302 missense probably damaging 1.00
R4758:Srebf2 UTSW 15 82196169 missense probably benign 0.01
R4812:Srebf2 UTSW 15 82203825 missense probably damaging 0.98
R5058:Srebf2 UTSW 15 82182050 missense probably damaging 0.99
R5063:Srebf2 UTSW 15 82177451 missense probably benign
R5155:Srebf2 UTSW 15 82196226 missense probably damaging 1.00
R5166:Srebf2 UTSW 15 82185402 missense probably damaging 1.00
R5330:Srebf2 UTSW 15 82196208 missense possibly damaging 0.88
R5398:Srebf2 UTSW 15 82171242 missense probably damaging 1.00
R5662:Srebf2 UTSW 15 82195003 missense probably benign 0.01
R5668:Srebf2 UTSW 15 82192255 missense probably benign 0.26
R5867:Srebf2 UTSW 15 82169786 missense probably damaging 1.00
R6030:Srebf2 UTSW 15 82177276 splice site probably null
R6030:Srebf2 UTSW 15 82177276 splice site probably null
R6928:Srebf2 UTSW 15 82203723 nonsense probably null
R7269:Srebf2 UTSW 15 82204069 missense probably benign 0.00
R7464:Srebf2 UTSW 15 82172874 missense probably damaging 0.97
R7632:Srebf2 UTSW 15 82185296 missense probably benign
X0064:Srebf2 UTSW 15 82175220 missense probably damaging 1.00
Z1088:Srebf2 UTSW 15 82194921 missense probably benign 0.00
Posted On2015-12-18