Incidental Mutation 'IGL01580:Scrn2'
ID91366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scrn2
Ensembl Gene ENSMUSG00000020877
Gene Namesecernin 2
SynonymsSES2, D11Moh48
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01580
Quality Score
Status
Chromosome11
Chromosomal Location97029938-97033958 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97032130 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 133 (H133R)
Ref Sequence ENSEMBL: ENSMUSP00000116606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021249] [ENSMUST00000021251] [ENSMUST00000153482]
Predicted Effect probably benign
Transcript: ENSMUST00000021249
AA Change: H133R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021249
Gene: ENSMUSG00000020877
AA Change: H133R

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Peptidase_C69 83 254 2e-10 PFAM
coiled coil region 362 395 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000021251
SMART Domains Protein: ENSMUSP00000021251
Gene: ENSMUSG00000020878

DomainStartEndE-ValueType
SCOP:d1h6ua2 44 150 1e-15 SMART
Blast:LRR 69 91 7e-6 BLAST
low complexity region 179 191 N/A INTRINSIC
low complexity region 209 225 N/A INTRINSIC
low complexity region 265 292 N/A INTRINSIC
low complexity region 297 323 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133054
Predicted Effect probably benign
Transcript: ENSMUST00000153482
AA Change: H133R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116606
Gene: ENSMUSG00000020877
AA Change: H133R

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Peptidase_C69 59 181 2.4e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,293,527 V1797I probably benign Het
Abi3bp A G 16: 56,675,210 E865G probably damaging Het
Ahnak A G 19: 9,002,839 T496A probably benign Het
BC030500 T C 8: 58,913,020 probably benign Het
Col6a4 A C 9: 106,068,198 Y906D probably damaging Het
Dip2c T G 13: 9,637,088 probably null Het
Frem2 A G 3: 53,655,175 I637T probably damaging Het
Guf1 T C 5: 69,565,421 probably benign Het
Htr1f G A 16: 64,925,835 R365* probably null Het
Olfr1123 A T 2: 87,418,536 I163F probably benign Het
Olfr686 T C 7: 105,203,906 I146V probably benign Het
Oog4 T C 4: 143,439,112 N155S probably benign Het
Phactr3 C A 2: 178,269,504 probably benign Het
Pi4k2b T C 5: 52,754,661 V300A possibly damaging Het
Pik3c2g A G 6: 139,622,516 D210G probably damaging Het
Pxdn A G 12: 29,984,493 T182A probably benign Het
Scn10a A G 9: 119,627,159 V1199A probably damaging Het
Shq1 G A 6: 100,573,744 S411L possibly damaging Het
Tmcc1 A C 6: 116,042,985 V462G possibly damaging Het
Other mutations in Scrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Scrn2 APN 11 97030570 missense probably benign 0.03
R1847:Scrn2 UTSW 11 97032195 missense probably benign 0.22
R2509:Scrn2 UTSW 11 97033166 missense possibly damaging 0.71
R2698:Scrn2 UTSW 11 97032296 unclassified probably benign
R4361:Scrn2 UTSW 11 97032238 missense probably null 1.00
R4927:Scrn2 UTSW 11 97033500 critical splice donor site probably null
R5040:Scrn2 UTSW 11 97030883 missense probably damaging 1.00
R5367:Scrn2 UTSW 11 97033127 missense possibly damaging 0.95
R5534:Scrn2 UTSW 11 97030925 missense probably benign 0.00
R6145:Scrn2 UTSW 11 97032853 missense probably benign 0.35
R7029:Scrn2 UTSW 11 97030436 unclassified probably benign
R7082:Scrn2 UTSW 11 97033082 missense possibly damaging 0.68
R7165:Scrn2 UTSW 11 97033808 missense probably benign
R7468:Scrn2 UTSW 11 97033166 missense possibly damaging 0.95
R7568:Scrn2 UTSW 11 97030886 missense probably damaging 1.00
R7632:Scrn2 UTSW 11 97033142 missense possibly damaging 0.51
R7950:Scrn2 UTSW 11 97030929 missense probably damaging 1.00
R8239:Scrn2 UTSW 11 97032220 missense probably damaging 1.00
R8398:Scrn2 UTSW 11 97030904 missense probably benign 0.07
R8408:Scrn2 UTSW 11 97031043 missense probably damaging 1.00
Posted On2013-12-09