Incidental Mutation 'R6505:Tmem229a'
ID523718
Institutional Source Beutler Lab
Gene Symbol Tmem229a
Ensembl Gene ENSMUSG00000048022
Gene Nametransmembrane protein 229A
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #R6505 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location24951141-24956297 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 24954921 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 278 (C278Y)
Ref Sequence ENSEMBL: ENSMUSP00000116234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127247]
Predicted Effect probably damaging
Transcript: ENSMUST00000127247
AA Change: C278Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116234
Gene: ENSMUSG00000048022
AA Change: C278Y

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
internal_repeat_1 51 108 1.6e-5 PROSPERO
low complexity region 139 163 N/A INTRINSIC
low complexity region 208 220 N/A INTRINSIC
internal_repeat_1 229 286 1.6e-5 PROSPERO
transmembrane domain 301 319 N/A INTRINSIC
transmembrane domain 332 354 N/A INTRINSIC
Meta Mutation Damage Score 0.1673 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (84/84)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A T 17: 9,001,940 I424L probably benign Het
2610028H24Rik C T 10: 76,449,281 A8V probably benign Het
Ago1 G A 4: 126,463,835 P16S probably benign Het
Ak5 C T 3: 152,481,669 E394K probably benign Het
Aldh7a1 T C 18: 56,526,996 Y498C probably damaging Het
Alox12 T A 11: 70,250,204 D335V probably damaging Het
Alx4 A T 2: 93,668,559 Y212F probably damaging Het
Asb16 A G 11: 102,276,477 E223G probably damaging Het
Atg9b C T 5: 24,390,577 V235M probably damaging Het
BB014433 A G 8: 15,042,304 V183A probably benign Het
Brca1 T A 11: 101,523,541 M1256L probably benign Het
Bst1 A G 5: 43,820,590 I94V probably benign Het
C3ar1 A G 6: 122,850,640 L206P probably benign Het
Cabs1 T A 5: 87,980,663 M391K possibly damaging Het
Cars C T 7: 143,565,007 R599Q probably damaging Het
Ccdc190 T A 1: 169,933,023 Y73* probably null Het
Cd177 A C 7: 24,744,246 L809W probably benign Het
Cemip C A 7: 83,951,597 G939* probably null Het
Clca3b T A 3: 144,825,259 I777F probably benign Het
Cma2 T C 14: 55,973,779 I176T probably damaging Het
Col12a1 T A 9: 79,647,605 T2064S probably damaging Het
Csf1r A G 18: 61,129,733 N860S probably damaging Het
Dab1 T A 4: 104,512,264 C3S probably benign Het
Dennd4b A G 3: 90,267,611 E50G probably damaging Het
Dis3l A T 9: 64,307,513 S925T probably benign Het
Disp1 T C 1: 183,086,512 N1448S probably benign Het
Dpp10 T C 1: 123,336,851 I747M probably damaging Het
Enpp5 G A 17: 44,085,264 G356S probably damaging Het
Ephx4 A T 5: 107,403,656 K36* probably null Het
Fam135a C T 1: 24,014,872 V1195I probably damaging Het
Fap A T 2: 62,546,603 Y234* probably null Het
Fem1c A T 18: 46,505,875 N353K possibly damaging Het
Furin C A 7: 80,393,617 R282L probably damaging Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm5930 A G 14: 44,331,371 *265Q probably null Het
Hcrtr1 T A 4: 130,137,586 T15S probably benign Het
Ifnar1 C T 16: 91,499,537 Q309* probably null Het
Il18r1 A T 1: 40,489,707 I304L probably benign Het
Ino80 A T 2: 119,451,441 Y185N probably damaging Het
Itgb2 G A 10: 77,559,673 C536Y probably damaging Het
Ivns1abp T C 1: 151,360,993 M435T probably benign Het
Kcnh4 T C 11: 100,757,085 N151D probably benign Het
Lama3 T C 18: 12,495,348 M1499T probably benign Het
Lamb1 A T 12: 31,323,462 T1397S possibly damaging Het
Leng1 G A 7: 3,661,212 R239* probably null Het
Map2k4 A T 11: 65,693,529 N309K possibly damaging Het
Mcm3 A G 1: 20,803,544 F784S probably damaging Het
Mrgpra9 T A 7: 47,235,136 N260I probably benign Het
Mrnip C A 11: 50,199,852 T281N possibly damaging Het
Myo9b A G 8: 71,355,857 T1715A possibly damaging Het
Nectin3 A G 16: 46,448,821 I406T possibly damaging Het
Neto1 A G 18: 86,498,574 T339A possibly damaging Het
Ntn1 T C 11: 68,213,199 D541G probably damaging Het
Nuak2 C A 1: 132,316,394 H55Q probably damaging Het
Nufip2 A G 11: 77,691,613 T118A probably benign Het
Olfr1126 T A 2: 87,457,927 V254E probably damaging Het
Olfr1155 A T 2: 87,943,174 Y151* probably null Het
Olfr19 A T 16: 16,673,920 D20E probably benign Het
Olfr213 C T 6: 116,540,600 T49M probably benign Het
Olfr266 T G 3: 106,822,322 N79T possibly damaging Het
Olfr483 T C 7: 108,103,567 V86A probably benign Het
Olfr596 C A 7: 103,309,793 A24D probably benign Het
Olfr609 T A 7: 103,492,651 T76S probably damaging Het
Olfr847 T C 9: 19,374,941 *313W probably null Het
Pcdhb5 T A 18: 37,320,880 H104Q probably benign Het
Phf11a T C 14: 59,277,537 R232G probably damaging Het
Pik3r5 C T 11: 68,492,789 T478I probably benign Het
Prkacb T A 3: 146,732,646 E380V probably damaging Het
Prl7c1 G T 13: 27,773,793 D221E probably damaging Het
Prr11 T A 11: 87,106,124 K5* probably null Het
Prrc2b G A 2: 32,222,320 G1932D probably damaging Het
Rexo1 A T 10: 80,543,011 Y1064N possibly damaging Het
Rnf182 C T 13: 43,668,671 Q233* probably null Het
Rsf1 G A 7: 97,579,910 probably benign Het
Sash1 C G 10: 8,729,527 G1033A probably benign Het
Sncaip C A 18: 52,906,537 S189* probably null Het
Sorl1 T C 9: 42,071,234 Y350C probably damaging Het
Speg T C 1: 75,406,684 V1141A possibly damaging Het
Speg C A 1: 75,429,523 D3091E possibly damaging Het
Sucnr1 A T 3: 60,086,723 D224V probably benign Het
Tg G A 15: 66,759,558 A559T probably damaging Het
Tmem132d A G 5: 127,784,438 I873T probably benign Het
Togaram1 T C 12: 64,966,590 I205T possibly damaging Het
Usp19 T A 9: 108,496,883 L713Q probably damaging Het
Vsig10 A G 5: 117,351,759 D530G possibly damaging Het
Zfp106 A G 2: 120,534,502 S475P probably damaging Het
Other mutations in Tmem229a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02239:Tmem229a APN 6 24955540 missense probably damaging 1.00
IGL02801:Tmem229a APN 6 24955122 missense probably benign 0.09
R0077:Tmem229a UTSW 6 24955702 missense probably benign
R1932:Tmem229a UTSW 6 24955011 missense probably damaging 1.00
R2016:Tmem229a UTSW 6 24955062 missense probably benign 0.00
R3522:Tmem229a UTSW 6 24955059 missense probably benign 0.01
R4229:Tmem229a UTSW 6 24954832 missense probably damaging 1.00
R4230:Tmem229a UTSW 6 24954832 missense probably damaging 1.00
R5610:Tmem229a UTSW 6 24955581 missense probably damaging 1.00
R5836:Tmem229a UTSW 6 24955017 missense probably damaging 1.00
R5869:Tmem229a UTSW 6 24954687 missense probably damaging 1.00
R5878:Tmem229a UTSW 6 24955173 missense probably benign
R6915:Tmem229a UTSW 6 24954658 missense probably benign 0.19
R7442:Tmem229a UTSW 6 24955690 missense probably damaging 1.00
R7692:Tmem229a UTSW 6 24955212 missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- GGAGGTCCTGGTACACACTAAG -3'
(R):5'- GGCACAGAACGATCTCCTAC -3'

Sequencing Primer
(F):5'- GGTCCTGGTACACACTAAGAAATAGC -3'
(R):5'- GAACGATCTCCTACCCAGGG -3'
Posted On2018-06-22