Incidental Mutation 'R0548:Tmem232'
ID 44996
Institutional Source Beutler Lab
Gene Symbol Tmem232
Ensembl Gene ENSMUSG00000045036
Gene Name transmembrane protein 232
Synonyms LOC381107, E130009J12Rik
MMRRC Submission 038740-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0548 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 65562994-65847777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65689615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 500 (T500I)
Ref Sequence ENSEMBL: ENSMUSP00000083927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062161] [ENSMUST00000086722]
AlphaFold Q5K6N0
Predicted Effect probably benign
Transcript: ENSMUST00000062161
AA Change: T500I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: T500I

DomainStartEndE-ValueType
Pfam:TMEM232 40 488 5.3e-235 PFAM
coiled coil region 598 634 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086722
AA Change: T500I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: T500I

DomainStartEndE-ValueType
low complexity region 61 67 N/A INTRINSIC
coiled coil region 598 634 N/A INTRINSIC
Meta Mutation Damage Score 0.2799 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T G 8: 41,279,504 (GRCm39) C632G probably damaging Het
Adamtsl3 T C 7: 82,178,191 (GRCm39) probably null Het
Agfg1 A G 1: 82,864,152 (GRCm39) T447A probably damaging Het
Ankrd37 C T 8: 46,451,433 (GRCm39) probably null Het
Apob A T 12: 8,056,282 (GRCm39) D1555V probably damaging Het
Asxl3 T A 18: 22,654,849 (GRCm39) probably benign Het
Brca2 C A 5: 150,468,400 (GRCm39) D2242E probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Cdk5rap2 A T 4: 70,267,379 (GRCm39) probably null Het
Cox10 A T 11: 63,867,178 (GRCm39) Y273N probably damaging Het
Dcbld2 A T 16: 58,275,508 (GRCm39) D408V probably damaging Het
Enam A T 5: 88,650,964 (GRCm39) E824D probably damaging Het
Epm2aip1 T C 9: 111,102,409 (GRCm39) Y461H probably damaging Het
Fam72a T A 1: 131,461,599 (GRCm39) S95T probably damaging Het
Fiz1 A T 7: 5,012,167 (GRCm39) V117D possibly damaging Het
Gm10355 C T 3: 101,214,376 (GRCm39) noncoding transcript Het
Gm11595 A T 11: 99,662,967 (GRCm39) C238S unknown Het
Gm7589 T G 9: 59,053,439 (GRCm39) noncoding transcript Het
H6pd A T 4: 150,066,073 (GRCm39) V771E probably damaging Het
Htt T C 5: 35,028,090 (GRCm39) L1782P probably damaging Het
Il33 T C 19: 29,932,047 (GRCm39) S147P probably benign Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Lrp2 G A 2: 69,367,982 (GRCm39) probably benign Het
Maco1 T C 4: 134,533,971 (GRCm39) D550G probably damaging Het
Map1b T C 13: 99,568,191 (GRCm39) K1510R unknown Het
Marco T C 1: 120,419,767 (GRCm39) T187A probably benign Het
Mki67 A T 7: 135,298,637 (GRCm39) N2132K possibly damaging Het
Mki67 T A 7: 135,296,985 (GRCm39) K2683M probably damaging Het
Mmp15 T C 8: 96,098,979 (GRCm39) V602A probably damaging Het
Mphosph10 T A 7: 64,028,548 (GRCm39) M536L probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
N4bp2 G T 5: 65,965,496 (GRCm39) V1182L probably benign Het
Nlrc5 C A 8: 95,248,411 (GRCm39) F1715L probably null Het
Nsd2 T A 5: 34,050,882 (GRCm39) V1253E probably damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or2a52 T A 6: 43,144,121 (GRCm39) I43K probably benign Het
Or4c120 C A 2: 89,000,992 (GRCm39) C188F probably damaging Het
Or8g18 A T 9: 39,149,667 (GRCm39) S18T probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pi4ka A T 16: 17,125,582 (GRCm39) N4K possibly damaging Het
Plxna4 A T 6: 32,134,950 (GRCm39) I1751N probably damaging Het
Postn C A 3: 54,274,997 (GRCm39) S122* probably null Het
Ppp4r4 A T 12: 103,579,074 (GRCm39) R762* probably null Het
Rrm1 G T 7: 102,116,274 (GRCm39) probably null Het
Rrp15 A G 1: 186,468,431 (GRCm39) V195A probably benign Het
Rtl1 T A 12: 109,558,089 (GRCm39) D1250V probably damaging Het
Rxrg T C 1: 167,458,788 (GRCm39) probably benign Het
Scn10a T C 9: 119,494,994 (GRCm39) K416E probably benign Het
Serping1 T C 2: 84,600,425 (GRCm39) probably benign Het
Slc12a6 T C 2: 112,166,269 (GRCm39) probably null Het
Smo A T 6: 29,759,585 (GRCm39) Q639L possibly damaging Het
Synrg T C 11: 83,873,014 (GRCm39) probably benign Het
Tars2 T C 3: 95,649,971 (GRCm39) D470G probably damaging Het
Tln1 T C 4: 43,542,709 (GRCm39) N1399S possibly damaging Het
Tmem131 A G 1: 36,877,119 (GRCm39) V240A probably damaging Het
Toporsl G A 4: 52,612,140 (GRCm39) V678M possibly damaging Het
Vmn1r7 A T 6: 57,002,066 (GRCm39) F65I probably damaging Het
Wdfy4 C T 14: 32,764,578 (GRCm39) M2257I probably benign Het
Wdr20rt T A 12: 65,274,089 (GRCm39) D344E probably benign Het
Xirp2 C T 2: 67,344,758 (GRCm39) A2333V probably benign Het
Zfyve16 T C 13: 92,631,452 (GRCm39) K1381R probably benign Het
Zscan18 G T 7: 12,508,103 (GRCm39) P466T probably damaging Het
Other mutations in Tmem232
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Tmem232 APN 17 65,563,569 (GRCm39) missense possibly damaging 0.71
IGL00954:Tmem232 APN 17 65,807,148 (GRCm39) missense probably damaging 1.00
IGL01530:Tmem232 APN 17 65,563,543 (GRCm39) nonsense probably null
IGL02881:Tmem232 APN 17 65,757,365 (GRCm39) missense probably damaging 1.00
IGL02969:Tmem232 APN 17 65,563,558 (GRCm39) missense possibly damaging 0.69
IGL02972:Tmem232 APN 17 65,783,668 (GRCm39) missense probably benign 0.00
IGL03028:Tmem232 APN 17 65,563,384 (GRCm39) missense probably benign 0.14
IGL03293:Tmem232 APN 17 65,757,369 (GRCm39) missense probably damaging 1.00
R0380:Tmem232 UTSW 17 65,563,443 (GRCm39) missense probably benign 0.23
R0432:Tmem232 UTSW 17 65,563,498 (GRCm39) missense probably damaging 0.99
R0524:Tmem232 UTSW 17 65,792,937 (GRCm39) missense probably damaging 0.98
R1345:Tmem232 UTSW 17 65,757,401 (GRCm39) missense possibly damaging 0.60
R1521:Tmem232 UTSW 17 65,791,496 (GRCm39) missense probably damaging 0.99
R1954:Tmem232 UTSW 17 65,791,482 (GRCm39) missense probably benign 0.01
R1955:Tmem232 UTSW 17 65,791,482 (GRCm39) missense probably benign 0.01
R2012:Tmem232 UTSW 17 65,807,167 (GRCm39) missense probably benign 0.21
R2294:Tmem232 UTSW 17 65,757,436 (GRCm39) missense probably benign 0.00
R2369:Tmem232 UTSW 17 65,709,992 (GRCm39) missense probably damaging 1.00
R2384:Tmem232 UTSW 17 65,709,852 (GRCm39) missense probably damaging 1.00
R2894:Tmem232 UTSW 17 65,757,408 (GRCm39) missense probably damaging 1.00
R3431:Tmem232 UTSW 17 65,572,297 (GRCm39) splice site probably null
R3788:Tmem232 UTSW 17 65,689,628 (GRCm39) missense possibly damaging 0.71
R3789:Tmem232 UTSW 17 65,689,520 (GRCm39) missense probably benign 0.02
R3789:Tmem232 UTSW 17 65,689,628 (GRCm39) missense possibly damaging 0.71
R4155:Tmem232 UTSW 17 65,743,328 (GRCm39) missense probably damaging 0.97
R4691:Tmem232 UTSW 17 65,572,237 (GRCm39) missense possibly damaging 0.88
R4838:Tmem232 UTSW 17 65,737,883 (GRCm39) missense probably benign 0.04
R5340:Tmem232 UTSW 17 65,709,993 (GRCm39) missense possibly damaging 0.92
R5619:Tmem232 UTSW 17 65,793,506 (GRCm39) missense probably benign 0.06
R6176:Tmem232 UTSW 17 65,792,867 (GRCm39) missense probably damaging 1.00
R6192:Tmem232 UTSW 17 65,737,800 (GRCm39) missense probably damaging 1.00
R6223:Tmem232 UTSW 17 65,807,191 (GRCm39) start codon destroyed probably null 0.99
R6256:Tmem232 UTSW 17 65,785,397 (GRCm39) missense possibly damaging 0.89
R6782:Tmem232 UTSW 17 65,807,119 (GRCm39) missense possibly damaging 0.88
R6856:Tmem232 UTSW 17 65,757,305 (GRCm39) missense possibly damaging 0.57
R7262:Tmem232 UTSW 17 65,807,112 (GRCm39) missense probably benign
R7459:Tmem232 UTSW 17 65,563,384 (GRCm39) missense probably benign 0.14
R7699:Tmem232 UTSW 17 65,572,213 (GRCm39) missense probably damaging 0.97
R7700:Tmem232 UTSW 17 65,572,213 (GRCm39) missense probably damaging 0.97
R8284:Tmem232 UTSW 17 65,709,990 (GRCm39) missense probably damaging 1.00
R8523:Tmem232 UTSW 17 65,785,366 (GRCm39) missense probably damaging 1.00
R8821:Tmem232 UTSW 17 65,743,367 (GRCm39) missense probably damaging 1.00
R9016:Tmem232 UTSW 17 65,737,778 (GRCm39) missense probably benign 0.30
R9420:Tmem232 UTSW 17 65,792,881 (GRCm39) missense probably damaging 1.00
R9617:Tmem232 UTSW 17 65,807,180 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTCACCCCGCAGAGCAATGAA -3'
(R):5'- GCGAACAGTCTCTCACTTTGCATAGAAT -3'

Sequencing Primer
(F):5'- CGGGTTCACTTACTTCAAGATAAAGC -3'
(R):5'- gtagacatcatttccccctcc -3'
Posted On 2013-06-11