Incidental Mutation 'IGL02519:Tmem63b'
ID296874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem63b
Ensembl Gene ENSMUSG00000036026
Gene Nametransmembrane protein 63b
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02519
Quality Score
Status
Chromosome17
Chromosomal Location45660171-45686905 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45665208 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 493 (T493S)
Ref Sequence ENSEMBL: ENSMUSP00000109151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113523] [ENSMUST00000145873] [ENSMUST00000156254]
Predicted Effect possibly damaging
Transcript: ENSMUST00000113523
AA Change: T493S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: T493S

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
low complexity region 82 92 N/A INTRINSIC
Pfam:RSN1_TM 101 226 2.5e-23 PFAM
Pfam:PHM7_cyt 274 344 9.1e-10 PFAM
Pfam:RSN1_7TM 362 706 5.3e-96 PFAM
transmembrane domain 711 733 N/A INTRINSIC
low complexity region 778 805 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129177
Predicted Effect probably benign
Transcript: ENSMUST00000145873
SMART Domains Protein: ENSMUSP00000121681
Gene: ENSMUSG00000036026

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
Pfam:RSN1_TM 87 213 1.1e-24 PFAM
Blast:RRM 228 308 3e-23 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156224
Predicted Effect probably benign
Transcript: ENSMUST00000156254
SMART Domains Protein: ENSMUSP00000118838
Gene: ENSMUSG00000036026

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
low complexity region 82 92 N/A INTRINSIC
Pfam:RSN1_TM 102 226 3.3e-24 PFAM
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
Igsf6 T C 7: 121,068,273 I173M possibly 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
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 Tmem63b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Tmem63b APN 17 45663571 missense probably damaging 1.00
IGL02486:Tmem63b APN 17 45673983 missense probably damaging 0.97
IGL02893:Tmem63b APN 17 45661900 missense probably damaging 1.00
IGL03137:Tmem63b APN 17 45664995 missense probably damaging 0.98
R0211:Tmem63b UTSW 17 45661913 missense probably benign 0.00
R0211:Tmem63b UTSW 17 45661913 missense probably benign 0.00
R0276:Tmem63b UTSW 17 45675373 splice site probably benign
R0441:Tmem63b UTSW 17 45666315 critical splice donor site probably null
R0729:Tmem63b UTSW 17 45674134 missense probably damaging 1.00
R0749:Tmem63b UTSW 17 45666115 missense possibly damaging 0.89
R0834:Tmem63b UTSW 17 45660944 missense possibly damaging 0.93
R0835:Tmem63b UTSW 17 45660944 missense possibly damaging 0.93
R0865:Tmem63b UTSW 17 45661519 missense probably benign 0.02
R1144:Tmem63b UTSW 17 45666427 missense probably benign 0.07
R1448:Tmem63b UTSW 17 45678978 missense possibly damaging 0.89
R1468:Tmem63b UTSW 17 45678978 missense possibly damaging 0.89
R1468:Tmem63b UTSW 17 45678978 missense possibly damaging 0.89
R1538:Tmem63b UTSW 17 45678978 missense possibly damaging 0.89
R1853:Tmem63b UTSW 17 45661297 missense possibly damaging 0.68
R1935:Tmem63b UTSW 17 45678961 critical splice donor site probably null
R2078:Tmem63b UTSW 17 45663536 missense possibly damaging 0.91
R2518:Tmem63b UTSW 17 45666154 missense probably benign
R3911:Tmem63b UTSW 17 45677958 missense probably damaging 1.00
R5093:Tmem63b UTSW 17 45660874 missense probably damaging 1.00
R5186:Tmem63b UTSW 17 45661477 missense possibly damaging 0.68
R5364:Tmem63b UTSW 17 45664727 unclassified probably benign
R5396:Tmem63b UTSW 17 45669962 missense possibly damaging 0.72
R5548:Tmem63b UTSW 17 45664958 missense probably damaging 0.98
R5582:Tmem63b UTSW 17 45667763 missense probably benign
R5998:Tmem63b UTSW 17 45670000 missense possibly damaging 0.94
R6198:Tmem63b UTSW 17 45661516 missense probably benign 0.00
R6656:Tmem63b UTSW 17 45667708 missense probably benign
R6808:Tmem63b UTSW 17 45660808 missense probably benign 0.13
R6967:Tmem63b UTSW 17 45666632 missense probably benign 0.00
R7089:Tmem63b UTSW 17 45667783 missense probably benign 0.00
R7181:Tmem63b UTSW 17 45673168 missense probably benign 0.00
R7214:Tmem63b UTSW 17 45661822 missense probably benign 0.02
R7267:Tmem63b UTSW 17 45666122 missense probably benign
R7323:Tmem63b UTSW 17 45660847 missense possibly damaging 0.86
R7346:Tmem63b UTSW 17 45666591 missense probably benign
R8281:Tmem63b UTSW 17 45660796 missense probably benign 0.23
Posted On2015-04-16