Incidental Mutation 'R1546:Tmem30a'
ID 172187
Institutional Source Beutler Lab
Gene Symbol Tmem30a
Ensembl Gene ENSMUSG00000032328
Gene Name transmembrane protein 30A
Synonyms Cdc50a, 2010200I23Rik, D9Wsu20e
MMRRC Submission 039585-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1546 (G1)
Quality Score 195
Status Not validated
Chromosome 9
Chromosomal Location 79676223-79700712 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 79678570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 329 (*329Q)
Ref Sequence ENSEMBL: ENSMUSP00000114042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034878] [ENSMUST00000120690]
AlphaFold Q8VEK0
Predicted Effect probably null
Transcript: ENSMUST00000034878
AA Change: *365Q
SMART Domains Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328
AA Change: *365Q

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Pfam:CDC50 69 358 1.3e-98 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120690
AA Change: *329Q
SMART Domains Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328
AA Change: *329Q

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
Pfam:CDC50 50 325 3.4e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153815
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Conditional homozygous knockout in the liver leads to jaundice, increased bilirubin and bile salt levels, liver inflammation and liver fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,026,232 (GRCm39) S251P probably damaging Het
Aaas C A 15: 102,255,153 (GRCm39) R79L probably benign Het
Acap2 C A 16: 30,923,754 (GRCm39) E657* probably null Het
Adgrg5 A T 8: 95,668,258 (GRCm39) E441V probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
AY358078 C T 14: 52,057,876 (GRCm39) probably null Het
Bco2 A G 9: 50,461,929 (GRCm39) V25A possibly damaging Het
Bltp1 T C 3: 36,924,205 (GRCm39) V10A possibly damaging Het
Carf T A 1: 60,165,195 (GRCm39) probably null Het
Ccdc38 A T 10: 93,401,741 (GRCm39) I134L probably benign Het
Cgnl1 A G 9: 71,633,097 (GRCm39) S85P probably benign Het
Ctsl A G 13: 64,515,693 (GRCm39) V126A probably damaging Het
Cwc27 A C 13: 104,938,693 (GRCm39) S206A probably damaging Het
D630045J12Rik A G 6: 38,167,590 (GRCm39) I1004T probably damaging Het
Dgki A G 6: 37,027,138 (GRCm39) V401A probably damaging Het
Dpp8 C T 9: 64,970,775 (GRCm39) H545Y possibly damaging Het
Dpy19l1 A T 9: 24,386,680 (GRCm39) C205S probably damaging Het
Enpp2 C T 15: 54,709,225 (GRCm39) E797K probably benign Het
Ephb2 C T 4: 136,498,320 (GRCm39) R253H probably damaging Het
Esrra T C 19: 6,897,665 (GRCm39) T31A probably benign Het
Ewsr1 C A 11: 5,028,574 (GRCm39) probably benign Het
Flt4 G T 11: 49,522,808 (GRCm39) R475L probably benign Het
Gm13547 A G 2: 29,653,921 (GRCm39) E138G possibly damaging Het
Gm572 A T 4: 148,751,276 (GRCm39) R216S possibly damaging Het
H2ac8 A G 13: 23,755,119 (GRCm39) V55A probably damaging Het
Hapln2 T A 3: 87,931,404 (GRCm39) Y37F probably benign Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,302 (GRCm39) probably benign Het
Hhla1 C T 15: 65,805,176 (GRCm39) A369T probably benign Het
Hmg20a T A 9: 56,374,685 (GRCm39) F14I possibly damaging Het
Iqca1l A T 5: 24,760,426 (GRCm39) probably null Het
Itga2 A T 13: 114,985,956 (GRCm39) S940T possibly damaging Het
Kcnt2 A G 1: 140,359,116 (GRCm39) N377S probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lhx6 A G 2: 35,981,049 (GRCm39) S298P probably benign Het
Lrp2 C T 2: 69,332,954 (GRCm39) G1521D probably damaging Het
Mogat2 A G 7: 98,881,766 (GRCm39) W57R probably damaging Het
Ms4a3 T C 19: 11,610,271 (GRCm39) N97S probably benign Het
Myo1a A G 10: 127,548,493 (GRCm39) D380G probably damaging Het
Nufip2 T A 11: 77,582,432 (GRCm39) D115E probably damaging Het
Ogn A T 13: 49,762,809 (GRCm39) K50N probably benign Het
Or5ac20 T C 16: 59,104,366 (GRCm39) R165G probably damaging Het
Or8c10 A T 9: 38,278,844 (GRCm39) M1L probably benign Het
Pde8b G A 13: 95,182,951 (GRCm39) T269I probably damaging Het
Ppargc1b A T 18: 61,443,677 (GRCm39) D495E probably damaging Het
Prdm16 C A 4: 154,613,117 (GRCm39) K103N possibly damaging Het
Proc C T 18: 32,260,463 (GRCm39) G221S probably damaging Het
Pxk A G 14: 8,164,091 (GRCm38) N561S probably damaging Het
Rapgef5 A G 12: 117,610,721 (GRCm39) N323S probably benign Het
Slc6a13 T G 6: 121,309,333 (GRCm39) D281E possibly damaging Het
Slc8a1 T C 17: 81,955,676 (GRCm39) Y454C probably damaging Het
Sntg2 C A 12: 30,338,295 (GRCm39) L115F probably damaging Het
Spata13 A G 14: 60,993,857 (GRCm39) D1103G probably damaging Het
Supv3l1 G A 10: 62,268,225 (GRCm39) A540V probably benign Het
Tet1 A T 10: 62,648,689 (GRCm39) D1914E probably damaging Het
Tspan5 A T 3: 138,604,102 (GRCm39) L162F probably damaging Het
Ttn T A 2: 76,549,396 (GRCm39) K31760N probably damaging Het
Tyr A T 7: 87,087,200 (GRCm39) D437E probably benign Het
Ubr4 T A 4: 139,144,238 (GRCm39) L1427* probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vcan A G 13: 89,841,075 (GRCm39) S1490P probably damaging Het
Vcl T A 14: 21,059,018 (GRCm39) C545S probably damaging Het
Vmn2r4 C T 3: 64,314,309 (GRCm39) G224D probably damaging Het
Vmn2r97 T A 17: 19,168,110 (GRCm39) V788E probably damaging Het
Vrtn G A 12: 84,695,282 (GRCm39) V11M probably damaging Het
Zbtb21 A T 16: 97,753,227 (GRCm39) V380D probably damaging Het
Zcchc14 G A 8: 122,331,002 (GRCm39) probably benign Het
Other mutations in Tmem30a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Tmem30a APN 9 79,682,382 (GRCm39) critical splice donor site probably null
IGL01701:Tmem30a APN 9 79,681,461 (GRCm39) missense probably damaging 1.00
IGL02043:Tmem30a APN 9 79,681,371 (GRCm39) splice site probably benign
IGL02319:Tmem30a APN 9 79,681,485 (GRCm39) missense probably damaging 1.00
IGL02629:Tmem30a APN 9 79,683,531 (GRCm39) splice site probably benign
IGL02983:Tmem30a APN 9 79,678,725 (GRCm39) missense possibly damaging 0.90
Imbroglio UTSW 9 79,681,547 (GRCm39) nonsense probably null
ladyfinger UTSW 9 79,681,494 (GRCm39) missense probably damaging 1.00
R0085:Tmem30a UTSW 9 79,678,576 (GRCm39) missense probably benign 0.02
R0496:Tmem30a UTSW 9 79,684,567 (GRCm39) missense probably damaging 1.00
R0498:Tmem30a UTSW 9 79,681,376 (GRCm39) nonsense probably null
R1648:Tmem30a UTSW 9 79,700,311 (GRCm39) missense probably damaging 1.00
R2018:Tmem30a UTSW 9 79,681,500 (GRCm39) missense probably damaging 1.00
R2019:Tmem30a UTSW 9 79,681,500 (GRCm39) missense probably damaging 1.00
R2259:Tmem30a UTSW 9 79,681,446 (GRCm39) missense probably benign 0.13
R2260:Tmem30a UTSW 9 79,681,446 (GRCm39) missense probably benign 0.13
R4491:Tmem30a UTSW 9 79,684,567 (GRCm39) missense probably damaging 1.00
R4492:Tmem30a UTSW 9 79,684,567 (GRCm39) missense probably damaging 1.00
R5289:Tmem30a UTSW 9 79,683,436 (GRCm39) missense probably damaging 0.99
R5433:Tmem30a UTSW 9 79,687,930 (GRCm39) missense probably damaging 0.98
R6707:Tmem30a UTSW 9 79,681,547 (GRCm39) nonsense probably null
R7662:Tmem30a UTSW 9 79,682,513 (GRCm39) missense probably benign
R7732:Tmem30a UTSW 9 79,687,826 (GRCm39) missense possibly damaging 0.49
R8100:Tmem30a UTSW 9 79,681,432 (GRCm39) missense probably benign 0.00
R8202:Tmem30a UTSW 9 79,681,494 (GRCm39) missense probably damaging 1.00
R8413:Tmem30a UTSW 9 79,683,507 (GRCm39) missense probably damaging 1.00
R9092:Tmem30a UTSW 9 79,678,581 (GRCm39) missense probably damaging 0.96
R9621:Tmem30a UTSW 9 79,687,926 (GRCm39) missense probably benign 0.30
R9760:Tmem30a UTSW 9 79,687,874 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AGGCTCTATGCATCACATGGCCTG -3'
(R):5'- ACGGAAACGGATGATCTTGAGCAC -3'

Sequencing Primer
(F):5'- TGGCCTGTCCCAATAAAAAGC -3'
(R):5'- CGGATGATCTTGAGCACTATTTC -3'
Posted On 2014-04-13