Incidental Mutation 'IGL02519:Igsf6'
ID296885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igsf6
Ensembl Gene ENSMUSG00000035004
Gene Nameimmunoglobulin superfamily, member 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02519
Quality Score
Status
Chromosome7
Chromosomal Location121064067-121074572 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121068273 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 173 (I173M)
Ref Sequence ENSEMBL: ENSMUSP00000039059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033163] [ENSMUST00000047194] [ENSMUST00000207351]
Predicted Effect probably benign
Transcript: ENSMUST00000033163
SMART Domains Protein: ENSMUSP00000033163
Gene: ENSMUSG00000030876

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 39 50 N/A INTRINSIC
Pfam:DREV 56 317 1.4e-142 PFAM
Pfam:Methyltransf_23 123 289 2.7e-12 PFAM
Pfam:Methyltransf_12 150 236 9.1e-10 PFAM
Pfam:Methyltransf_11 150 238 9.4e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000047194
AA Change: I173M

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039059
Gene: ENSMUSG00000035004
AA Change: I173M

DomainStartEndE-ValueType
IG 35 142 2.79e-2 SMART
transmembrane domain 154 176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207806
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,895,315 E370G probably damaging Het
Adamts13 A T 2: 26,978,675 I224F probably damaging Het
Adamts17 A G 7: 67,124,973 T947A possibly damaging Het
Ankfn1 T C 11: 89,405,678 E75G probably benign Het
Arfgef1 G T 1: 10,209,668 H225N probably benign Het
Arsi A G 18: 60,917,067 S341G probably damaging Het
Aspm T A 1: 139,461,927 probably benign Het
Cacna1i C T 15: 80,361,874 R490* probably null Het
Cd33 C T 7: 43,528,729 probably benign Het
Clmn T C 12: 104,791,853 I135V probably damaging Het
Crebbp A T 16: 4,101,593 N795K possibly damaging Het
Dhps A G 8: 85,073,299 D126G probably damaging Het
Dlg2 G T 7: 91,940,115 V196L possibly damaging Het
Dsg1c T A 18: 20,283,733 I897N probably damaging Het
Dzip3 A G 16: 48,928,396 L1059S probably damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Fgf17 A G 14: 70,638,528 I88T probably damaging Het
G3bp2 A G 5: 92,066,524 V137A possibly damaging Het
Gnal G A 18: 67,088,765 E80K unknown Het
Hectd1 T G 12: 51,769,111 S1393R probably damaging Het
Il2ra A C 2: 11,683,090 E227A possibly damaging Het
Iqcf6 C T 9: 106,627,280 R48C probably damaging Het
Kdm3a G T 6: 71,611,586 Q480K probably benign Het
Larp4b C A 13: 9,158,580 A423E probably benign Het
Magea6 T C X: 154,924,745 D105G probably benign Het
Nop53 C A 7: 15,939,272 probably benign Het
Olfr307 A T 7: 86,335,581 F272I probably benign Het
Olfr338 T C 2: 36,377,313 L179P possibly damaging Het
Pgghg A G 7: 140,944,981 T352A possibly damaging Het
Setd2 T C 9: 110,553,116 S1464P probably damaging Het
Sspo C A 6: 48,484,828 T3609N probably damaging Het
Sulf1 T A 1: 12,838,363 Y533* probably null Het
Thsd7b A G 1: 129,613,195 S346G probably benign Het
Tmem161b T A 13: 84,294,744 L261Q probably damaging Het
Tmem63b T A 17: 45,665,208 T493S possibly damaging Het
Tmprss11d A T 5: 86,306,305 C214S probably damaging Het
Trim16 A T 11: 62,834,079 E144V possibly damaging Het
Unc13d T C 11: 116,070,533 Y356C probably damaging Het
Urgcp A T 11: 5,717,745 F198I probably benign Het
Vmn2r111 T C 17: 22,548,339 I726V possibly damaging Het
Zzz3 A T 3: 152,427,390 E28D probably damaging Het
Other mutations in Igsf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Igsf6 APN 7 121070653 nonsense probably null
IGL01592:Igsf6 APN 7 121070793 missense probably damaging 1.00
IGL02636:Igsf6 APN 7 121067280 intron probably benign
R0106:Igsf6 UTSW 7 121074454 missense probably benign 0.28
R0106:Igsf6 UTSW 7 121074454 missense probably benign 0.28
R1776:Igsf6 UTSW 7 121068299 missense probably damaging 0.97
R1817:Igsf6 UTSW 7 121070808 missense probably damaging 1.00
R7770:Igsf6 UTSW 7 121068325 missense probably benign 0.01
Posted On2015-04-16