Incidental Mutation 'R6198:Tmem63b'
ID 503071
Institutional Source Beutler Lab
Gene Symbol Tmem63b
Ensembl Gene ENSMUSG00000036026
Gene Name transmembrane protein 63b
Synonyms
MMRRC Submission 044338-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6198 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 45971102-45997212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45972442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 722 (V722I)
Ref Sequence ENSEMBL: ENSMUSP00000109151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113523] [ENSMUST00000120717] [ENSMUST00000151350]
AlphaFold Q3TWI9
Predicted Effect probably benign
Transcript: ENSMUST00000113523
AA Change: V722I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: V722I

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 probably benign
Transcript: ENSMUST00000120717
SMART Domains Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626

DomainStartEndE-ValueType
CysPc 37 362 2.75e-157 SMART
calpain_III 366 523 2.57e-84 SMART
EFh 590 618 3.91e-4 SMART
EFh 620 648 6.88e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129177
Predicted Effect probably benign
Transcript: ENSMUST00000151350
SMART Domains Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626

DomainStartEndE-ValueType
Pfam:Peptidase_C2 94 153 1.5e-14 PFAM
low complexity region 163 174 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156224
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,499 (GRCm39) probably null Het
2610318N02Rik A G 16: 16,936,233 (GRCm39) S164P probably damaging Het
Acsbg3 A G 17: 57,189,679 (GRCm39) S265G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 A C 11: 46,012,329 (GRCm39) N275T probably damaging Het
Adgrg7 T A 16: 56,597,556 (GRCm39) T84S possibly damaging Het
Asl C T 5: 130,047,757 (GRCm39) V70I probably benign Het
Atp2c1 A G 9: 105,398,271 (GRCm39) S26P probably benign Het
Bcas3 A T 11: 85,400,261 (GRCm39) D410V probably damaging Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ccdc15 A C 9: 37,225,581 (GRCm39) probably null Het
Cfh A G 1: 140,033,178 (GRCm39) S789P probably damaging Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnst A G 1: 179,420,430 (GRCm39) Q187R probably damaging Het
Csmd3 T C 15: 48,177,273 (GRCm39) T422A probably benign Het
Cyp2c55 A T 19: 38,995,565 (GRCm39) R26* probably null Het
Dgkb A T 12: 38,223,822 (GRCm39) M414L probably benign Het
Dgkd A G 1: 87,851,930 (GRCm39) D444G probably damaging Het
Dipk1b A G 2: 26,525,710 (GRCm39) K215E probably damaging Het
Dnmt3c T C 2: 153,561,929 (GRCm39) V544A noncoding transcript Het
Dus3l A T 17: 57,074,858 (GRCm39) T327S possibly damaging Het
Elf2 A T 3: 51,184,670 (GRCm39) L5Q probably damaging Het
Fxyd6 A G 9: 45,301,968 (GRCm39) Y30C probably damaging Het
Gcc2 A T 10: 58,128,412 (GRCm39) T1375S probably benign Het
Git2 A T 5: 114,883,556 (GRCm39) Y393* probably null Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Golgb1 T C 16: 36,713,757 (GRCm39) L246P probably damaging Het
Grp G T 18: 66,013,057 (GRCm39) Q74H possibly damaging Het
Ifi203 A T 1: 173,751,648 (GRCm39) M391K probably damaging Het
Itih2 A G 2: 10,103,352 (GRCm39) Y712H probably benign Het
Kdm5a T A 6: 120,415,958 (GRCm39) V1626E probably benign Het
Klhl40 A G 9: 121,607,833 (GRCm39) Y331C probably damaging Het
Kprp T A 3: 92,731,994 (GRCm39) Y352F probably damaging Het
Lama2 G T 10: 27,064,018 (GRCm39) H1286Q probably damaging Het
Lgi4 T A 7: 30,768,547 (GRCm39) probably null Het
Lrrc47 A T 4: 154,100,129 (GRCm39) N235I probably damaging Het
Lrrc74b T A 16: 17,366,650 (GRCm39) I308F probably damaging Het
Map7d1 T A 4: 126,135,636 (GRCm39) K135M probably damaging Het
Marchf5 A G 19: 37,188,140 (GRCm39) R36G probably damaging Het
Mtx3 C A 13: 92,989,359 (GRCm39) P299Q probably benign Het
Muc21 T A 17: 35,931,808 (GRCm39) probably benign Het
Ncapd2 C A 6: 125,156,286 (GRCm39) E500* probably null Het
Nckap5l T C 15: 99,323,869 (GRCm39) K878R probably damaging Het
Nphs1 T C 7: 30,167,340 (GRCm39) I756T probably damaging Het
Olfm4 T G 14: 80,237,813 (GRCm39) S17A probably benign Het
Or1j15 A G 2: 36,458,963 (GRCm39) M118V probably damaging Het
Or4b1 A T 2: 89,979,782 (GRCm39) D189E probably damaging Het
Pak1ip1 G T 13: 41,154,886 (GRCm39) Q27H probably benign Het
Piezo2 A T 18: 63,290,281 (GRCm39) C159* probably null Het
Pkn2 G T 3: 142,516,165 (GRCm39) T538K probably benign Het
Ppp3cc A T 14: 70,485,060 (GRCm39) M198K probably benign Het
Rrm1 T G 7: 102,095,936 (GRCm39) probably null Het
Setd3 T C 12: 108,131,427 (GRCm39) K7E possibly damaging Het
Shc1 A G 3: 89,329,414 (GRCm39) K86R probably benign Het
Slc16a7 T C 10: 125,064,084 (GRCm39) T418A probably benign Het
Spocd1 C T 4: 129,849,208 (GRCm39) P676S probably damaging Het
Spp1 A G 5: 104,587,374 (GRCm39) probably null Het
Syne1 A G 10: 5,252,269 (GRCm39) Y2462H probably damaging Het
Tiam2 T C 17: 3,464,396 (GRCm39) S42P probably benign Het
Ubqln1 A G 13: 58,344,404 (GRCm39) S130P probably benign Het
Usp34 G T 11: 23,434,127 (GRCm39) L3215F probably damaging Het
Uvssa A G 5: 33,566,854 (GRCm39) Y517C probably damaging Het
Vps13d A T 4: 144,875,560 (GRCm39) F1649Y probably benign Het
Zfp236 A G 18: 82,675,278 (GRCm39) S405P probably damaging Het
Zfp9 T C 6: 118,454,282 (GRCm39) M1V probably null Het
Zfp946 A T 17: 22,673,896 (GRCm39) S217C probably damaging Het
Zfp970 T A 2: 177,167,253 (GRCm39) C276S probably damaging Het
Zswim5 T A 4: 116,735,204 (GRCm39) F183Y probably benign 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
R5582:Tmem63b UTSW 17 45,978,689 (GRCm39) missense probably benign
R5998:Tmem63b UTSW 17 45,980,926 (GRCm39) missense possibly damaging 0.94
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'- TCAATCTTAAGGGGTCCATGGTG -3'
(R):5'- AGAATGCCAAGGGTCTCAGTG -3'

Sequencing Primer
(F):5'- GAAATATTCCTGTTTTTAGCCCCG -3'
(R):5'- CCAAGGGTCTCAGTGAGGTTG -3'
Posted On 2018-02-27