Incidental Mutation 'R5582:Tmem63b'
ID 438534
Institutional Source Beutler Lab
Gene Symbol Tmem63b
Ensembl Gene ENSMUSG00000036026
Gene Name transmembrane protein 63b
Synonyms
MMRRC Submission 043136-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5582 (G1)
Quality Score 221
Status Validated
Chromosome 17
Chromosomal Location 45971102-45997212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 45978689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 294 (V294L)
Ref Sequence ENSEMBL: ENSMUSP00000121681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113523] [ENSMUST00000145873] [ENSMUST00000156254]
AlphaFold Q3TWI9
Predicted Effect probably benign
Transcript: ENSMUST00000113523
AA Change: V307L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: V307L

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
AA Change: V294L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121681
Gene: ENSMUSG00000036026
AA Change: V294L

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
Meta Mutation Damage Score 0.0830 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,586,639 (GRCm39) probably null Het
Agxt2 A G 15: 10,399,245 (GRCm39) D444G probably damaging Het
Aldh1b1 G T 4: 45,802,750 (GRCm39) R96L probably damaging Het
Ank2 T C 3: 126,739,954 (GRCm39) probably benign Het
Apob A G 12: 8,060,788 (GRCm39) Y3090C probably damaging Het
Bbx A G 16: 50,043,719 (GRCm39) S647P probably damaging Het
Brinp2 T C 1: 158,076,979 (GRCm39) Y372C probably damaging Het
Btaf1 T C 19: 36,965,573 (GRCm39) probably null Het
Cdk5rap1 T A 2: 154,187,894 (GRCm39) E477D probably benign Het
Cfap65 G A 1: 74,946,677 (GRCm39) probably benign Het
Chdh A G 14: 29,758,816 (GRCm39) Y587C probably damaging Het
Chek2 T C 5: 111,015,901 (GRCm39) V472A probably damaging Het
Clasrp A C 7: 19,320,781 (GRCm39) I326S probably damaging Het
Clic6 A T 16: 92,296,342 (GRCm39) Q334L possibly damaging Het
Cyp2d11 A T 15: 82,276,319 (GRCm39) probably null Het
Entpd7 T C 19: 43,693,433 (GRCm39) I171T probably damaging Het
Fosl1 T C 19: 5,505,295 (GRCm39) probably benign Het
Gm6124 A G 7: 38,869,622 (GRCm39) noncoding transcript Het
H3f3a A T 1: 180,637,650 (GRCm39) probably benign Het
Hs1bp3 AGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGAGGAGGAGGAGGAGGAGGAGGAGG 12: 8,374,048 (GRCm39) probably benign Het
Idh2 CCAGGGC CC 7: 79,748,087 (GRCm39) probably null Het
Igkv3-7 A G 6: 70,584,990 (GRCm39) Y110C probably damaging Het
Ints9 C T 14: 65,266,345 (GRCm39) T399M possibly damaging Het
Kctd19 G A 8: 106,135,075 (GRCm39) T62M probably damaging Het
Lsmem1 A G 12: 40,230,643 (GRCm39) probably null Het
Obscn T C 11: 58,990,802 (GRCm39) probably null Het
Or11h23 T C 14: 50,948,425 (GRCm39) Y213H probably damaging Het
Or1j12 T C 2: 36,343,233 (GRCm39) I212T probably benign Het
Otop3 T A 11: 115,230,165 (GRCm39) M14K unknown Het
Pibf1 C T 14: 99,374,566 (GRCm39) A335V possibly damaging Het
Pkd1l2 A T 8: 117,767,522 (GRCm39) L1256* probably null Het
Plbd2 T C 5: 120,631,171 (GRCm39) E202G probably benign Het
Ppp1r37 A G 7: 19,266,219 (GRCm39) S516P probably damaging Het
Ppt2 G A 17: 34,836,373 (GRCm39) T229M probably damaging Het
Prr14 A T 7: 127,075,569 (GRCm39) I526F probably damaging Het
Scel T C 14: 103,820,575 (GRCm39) probably benign Het
Scn9a A T 2: 66,395,373 (GRCm39) probably benign Het
Senp6 T A 9: 79,997,158 (GRCm39) D57E possibly damaging Het
Setd5 T C 6: 113,091,886 (GRCm39) Y217H probably damaging Het
Sgcg T C 14: 61,462,754 (GRCm39) T198A probably damaging Het
Sipa1 C T 19: 5,704,729 (GRCm39) G622D probably benign Het
Slc27a2 C T 2: 126,406,610 (GRCm39) A98V probably damaging Het
Slitrk3 G T 3: 72,957,737 (GRCm39) P345Q probably benign Het
Slx4 T C 16: 3,803,652 (GRCm39) D1054G possibly damaging Het
Sned1 A T 1: 93,210,083 (GRCm39) T898S probably damaging Het
Tg C T 15: 66,565,284 (GRCm39) P1209S probably damaging Het
Tnks G A 8: 35,408,015 (GRCm39) R238C probably benign Het
Tsn G A 1: 118,232,944 (GRCm39) T120I probably damaging Het
Txnrd1 T A 10: 82,731,814 (GRCm39) F479I possibly damaging Het
Ubr1 T C 2: 120,745,888 (GRCm39) M849V probably benign Het
Usp13 T C 3: 32,965,738 (GRCm39) S574P probably damaging Het
Vmn1r69 A G 7: 10,314,435 (GRCm39) Y20H probably damaging Het
Zfp1001 T C 2: 150,204,972 (GRCm39) probably benign Het
Zfp780b T A 7: 27,664,252 (GRCm39) N101I probably damaging Het
Other mutations in Tmem63b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Tmem63b APN 17 45,974,497 (GRCm39) missense probably damaging 1.00
IGL02486:Tmem63b APN 17 45,984,909 (GRCm39) missense probably damaging 0.97
IGL02519:Tmem63b APN 17 45,976,134 (GRCm39) missense possibly damaging 0.46
IGL02893:Tmem63b APN 17 45,972,826 (GRCm39) missense probably damaging 1.00
IGL03137:Tmem63b APN 17 45,975,921 (GRCm39) missense probably damaging 0.98
R0211:Tmem63b UTSW 17 45,972,839 (GRCm39) missense probably benign 0.00
R0211:Tmem63b UTSW 17 45,972,839 (GRCm39) missense probably benign 0.00
R0276:Tmem63b UTSW 17 45,986,299 (GRCm39) splice site probably benign
R0441:Tmem63b UTSW 17 45,977,241 (GRCm39) critical splice donor site probably null
R0729:Tmem63b UTSW 17 45,985,060 (GRCm39) missense probably damaging 1.00
R0749:Tmem63b UTSW 17 45,977,041 (GRCm39) missense possibly damaging 0.89
R0834:Tmem63b UTSW 17 45,971,870 (GRCm39) missense possibly damaging 0.93
R0835:Tmem63b UTSW 17 45,971,870 (GRCm39) missense possibly damaging 0.93
R0865:Tmem63b UTSW 17 45,972,445 (GRCm39) missense probably benign 0.02
R1144:Tmem63b UTSW 17 45,977,353 (GRCm39) missense probably benign 0.07
R1448:Tmem63b UTSW 17 45,989,904 (GRCm39) missense possibly damaging 0.89
R1468:Tmem63b UTSW 17 45,989,904 (GRCm39) missense possibly damaging 0.89
R1468:Tmem63b UTSW 17 45,989,904 (GRCm39) missense possibly damaging 0.89
R1538:Tmem63b UTSW 17 45,989,904 (GRCm39) missense possibly damaging 0.89
R1853:Tmem63b UTSW 17 45,972,223 (GRCm39) missense possibly damaging 0.68
R1935:Tmem63b UTSW 17 45,989,887 (GRCm39) critical splice donor site probably null
R2078:Tmem63b UTSW 17 45,974,462 (GRCm39) missense possibly damaging 0.91
R2518:Tmem63b UTSW 17 45,977,080 (GRCm39) missense probably benign
R3911:Tmem63b UTSW 17 45,988,884 (GRCm39) missense probably damaging 1.00
R5093:Tmem63b UTSW 17 45,971,800 (GRCm39) missense probably damaging 1.00
R5186:Tmem63b UTSW 17 45,972,403 (GRCm39) missense possibly damaging 0.68
R5364:Tmem63b UTSW 17 45,975,653 (GRCm39) unclassified probably benign
R5396:Tmem63b UTSW 17 45,980,888 (GRCm39) missense possibly damaging 0.72
R5548:Tmem63b UTSW 17 45,975,884 (GRCm39) missense probably damaging 0.98
R5998:Tmem63b UTSW 17 45,980,926 (GRCm39) missense possibly damaging 0.94
R6198:Tmem63b UTSW 17 45,972,442 (GRCm39) missense probably benign 0.00
R6656:Tmem63b UTSW 17 45,978,634 (GRCm39) missense probably benign
R6808:Tmem63b UTSW 17 45,971,734 (GRCm39) missense probably benign 0.13
R6967:Tmem63b UTSW 17 45,977,558 (GRCm39) missense probably benign 0.00
R7089:Tmem63b UTSW 17 45,978,709 (GRCm39) missense probably benign 0.00
R7181:Tmem63b UTSW 17 45,984,094 (GRCm39) missense probably benign 0.00
R7214:Tmem63b UTSW 17 45,972,748 (GRCm39) missense probably benign 0.02
R7267:Tmem63b UTSW 17 45,977,048 (GRCm39) missense probably benign
R7323:Tmem63b UTSW 17 45,971,773 (GRCm39) missense possibly damaging 0.86
R7346:Tmem63b UTSW 17 45,977,517 (GRCm39) missense probably benign
R8281:Tmem63b UTSW 17 45,971,722 (GRCm39) missense probably benign 0.23
R8927:Tmem63b UTSW 17 45,975,908 (GRCm39) missense probably damaging 1.00
R8928:Tmem63b UTSW 17 45,975,908 (GRCm39) missense probably damaging 1.00
R9042:Tmem63b UTSW 17 45,977,517 (GRCm39) missense probably benign
R9289:Tmem63b UTSW 17 45,975,697 (GRCm39) missense probably benign 0.45
R9539:Tmem63b UTSW 17 45,984,105 (GRCm39) nonsense probably null
R9794:Tmem63b UTSW 17 45,977,252 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TAGGGGTTGTGACTACCCTG -3'
(R):5'- GATGAAGGGCACACTCTTACC -3'

Sequencing Primer
(F):5'- CTGGGGCATCCATGTCTACTGAG -3'
(R):5'- ATCCCACAGGAAGAAGGC -3'
Posted On 2016-10-26