Incidental Mutation 'R4551:Tmem236'
ID 333936
Institutional Source Beutler Lab
Gene Symbol Tmem236
Ensembl Gene ENSMUSG00000061531
Gene Name transmembrane protein 236
Synonyms Fam23a, 2010003H20Rik
MMRRC Submission 041782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R4551 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 14179335-14226804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14223964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 251 (Q251L)
Ref Sequence ENSEMBL: ENSMUSP00000076722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077517]
AlphaFold A2ARJ3
Predicted Effect probably benign
Transcript: ENSMUST00000077517
AA Change: Q251L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000076722
Gene: ENSMUSG00000061531
AA Change: Q251L

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 82 104 N/A INTRINSIC
low complexity region 119 143 N/A INTRINSIC
transmembrane domain 256 275 N/A INTRINSIC
transmembrane domain 295 314 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T G 11: 119,902,395 (GRCm39) E610A probably benign Het
Abhd17b T C 19: 21,658,290 (GRCm39) S176P possibly damaging Het
Adgrg7 A G 16: 56,568,375 (GRCm39) Y427H probably damaging Het
Alox15 T A 11: 70,235,422 (GRCm39) I647L probably benign Het
Ankhd1 C A 18: 36,788,560 (GRCm39) probably null Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
C4bp A G 1: 130,564,464 (GRCm39) Y407H possibly damaging Het
Cog6 T A 3: 52,905,741 (GRCm39) E96V probably damaging Het
Cox20 A C 1: 178,150,114 (GRCm39) N96T probably benign Het
Cpa3 T C 3: 20,273,934 (GRCm39) I351V probably benign Het
Cpd C T 11: 76,702,712 (GRCm39) G552D probably damaging Het
Cyld A G 8: 89,433,762 (GRCm39) K184E possibly damaging Het
Dab2 G A 15: 6,464,775 (GRCm39) G324D probably damaging Het
Depdc1a T A 3: 159,228,221 (GRCm39) D324E probably damaging Het
Dnah9 T C 11: 65,732,192 (GRCm39) E4238G probably damaging Het
Dync1i1 T A 6: 5,923,206 (GRCm39) D275E probably benign Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Farp2 T A 1: 93,546,314 (GRCm39) L868Q possibly damaging Het
Gpr45 A G 1: 43,071,950 (GRCm39) T198A probably benign Het
Grk2 C T 19: 4,336,084 (GRCm39) V402M possibly damaging Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Gtf2h3 A G 5: 124,728,482 (GRCm39) probably benign Het
Hus1b C A 13: 31,131,059 (GRCm39) S200I probably damaging Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ikbke T C 1: 131,185,770 (GRCm39) probably benign Het
Kat6b A G 14: 21,711,516 (GRCm39) E670G probably damaging Het
Kif26b T A 1: 178,711,600 (GRCm39) I740N probably damaging Het
Lhx3 G A 2: 26,091,202 (GRCm39) P369L probably damaging Het
Man2c1 T C 9: 57,038,445 (GRCm39) L35P probably damaging Het
Mical2 T A 7: 111,981,123 (GRCm39) S366T possibly damaging Het
Mroh9 A T 1: 162,871,662 (GRCm39) I607N probably damaging Het
Mybphl T C 3: 108,281,479 (GRCm39) I65T possibly damaging Het
Myo1g A G 11: 6,467,874 (GRCm39) I187T probably damaging Het
Myo7b T C 18: 32,118,161 (GRCm39) S822G probably benign Het
Nkx2-4 C A 2: 146,926,842 (GRCm39) A142S probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Odf4 C T 11: 68,812,866 (GRCm39) S264N probably benign Het
Or12k7 G T 2: 36,958,355 (GRCm39) V13L probably benign Het
Or13a17 A T 7: 140,271,655 (GRCm39) Y279F probably damaging Het
Or56b1 A T 7: 104,285,631 (GRCm39) H250L probably damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Parpbp T A 10: 87,929,564 (GRCm39) Q428L possibly damaging Het
Pcdhb16 T C 18: 37,612,887 (GRCm39) F616L probably damaging Het
Pdk3 A T X: 92,825,846 (GRCm39) M253K probably damaging Het
Pgap2 C A 7: 101,875,674 (GRCm39) probably benign Het
Pkhd1l1 C A 15: 44,414,281 (GRCm39) N2849K probably damaging Het
Pprc1 A G 19: 46,055,664 (GRCm39) probably benign Het
Psma2 A G 13: 14,791,430 (GRCm39) Y25C possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptpn5 C A 7: 46,740,600 (GRCm39) probably benign Het
Pxn G T 5: 115,690,779 (GRCm39) probably benign Het
Scd3 C A 19: 44,203,878 (GRCm39) A22E probably benign Het
Sdr42e1 T C 8: 118,390,347 (GRCm39) E98G probably benign Het
Slc14a2 A C 18: 78,239,068 (GRCm39) S184A probably benign Het
Trappc8 T C 18: 21,007,729 (GRCm39) T129A probably benign Het
Vmn1r90 A C 7: 14,295,894 (GRCm39) M68R possibly damaging Het
Vmn2r105 A G 17: 20,446,613 (GRCm39) V462A probably benign Het
Vmn2r7 T C 3: 64,598,110 (GRCm39) T816A possibly damaging Het
Vmn2r81 T A 10: 79,104,241 (GRCm39) I288K possibly damaging Het
Zfp180 A C 7: 23,803,998 (GRCm39) K139T possibly damaging Het
Zfp932 T C 5: 110,157,505 (GRCm39) V401A probably benign Het
Other mutations in Tmem236
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Tmem236 APN 2 14,224,189 (GRCm39) missense probably damaging 1.00
IGL01363:Tmem236 APN 2 14,179,441 (GRCm39) missense probably damaging 1.00
IGL01980:Tmem236 APN 2 14,223,716 (GRCm39) missense probably benign 0.16
IGL02749:Tmem236 APN 2 14,224,132 (GRCm39) missense probably damaging 1.00
R0172:Tmem236 UTSW 2 14,223,694 (GRCm39) missense probably benign 0.06
R1470:Tmem236 UTSW 2 14,223,732 (GRCm39) missense probably benign 0.22
R1470:Tmem236 UTSW 2 14,223,732 (GRCm39) missense probably benign 0.22
R1519:Tmem236 UTSW 2 14,197,091 (GRCm39) missense probably benign 0.00
R1923:Tmem236 UTSW 2 14,224,117 (GRCm39) missense probably damaging 1.00
R2147:Tmem236 UTSW 2 14,223,861 (GRCm39) missense probably benign 0.03
R4226:Tmem236 UTSW 2 14,179,437 (GRCm39) nonsense probably null
R4904:Tmem236 UTSW 2 14,200,803 (GRCm39) missense probably benign
R5168:Tmem236 UTSW 2 14,197,139 (GRCm39) critical splice donor site probably null
R5283:Tmem236 UTSW 2 14,179,644 (GRCm39) missense probably benign 0.01
R5306:Tmem236 UTSW 2 14,223,975 (GRCm39) nonsense probably null
R5334:Tmem236 UTSW 2 14,223,871 (GRCm39) missense possibly damaging 0.85
R6516:Tmem236 UTSW 2 14,200,791 (GRCm39) missense probably benign 0.00
R6604:Tmem236 UTSW 2 14,179,512 (GRCm39) missense probably benign 0.03
R7689:Tmem236 UTSW 2 14,197,076 (GRCm39) missense probably damaging 0.99
R8390:Tmem236 UTSW 2 14,224,168 (GRCm39) missense probably damaging 1.00
R9157:Tmem236 UTSW 2 14,223,889 (GRCm39) missense probably benign 0.00
R9630:Tmem236 UTSW 2 14,223,815 (GRCm39) missense probably benign
X0062:Tmem236 UTSW 2 14,224,089 (GRCm39) missense probably damaging 1.00
Z1177:Tmem236 UTSW 2 14,179,538 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGAGTGACGGAAATCCTGC -3'
(R):5'- AGTACTGGCGTGATCGTTCC -3'

Sequencing Primer
(F):5'- TGACGGAAATCCTGCATCTG -3'
(R):5'- TTCCCAGGGCAAGGATTAAACTG -3'
Posted On 2015-08-18