Incidental Mutation 'R7141:Tspoap1'
ID 553354
Institutional Source Beutler Lab
Gene Symbol Tspoap1
Ensembl Gene ENSMUSG00000034156
Gene Name TSPO associated protein 1
Synonyms Bzrap1, peripheral
MMRRC Submission 045221-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7141 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 87651367-87676754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87665523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 754 (S754G)
Ref Sequence ENSEMBL: ENSMUSP00000048063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039627] [ENSMUST00000100644]
AlphaFold Q7TNF8
Predicted Effect probably damaging
Transcript: ENSMUST00000039627
AA Change: S754G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: S754G

DomainStartEndE-ValueType
coiled coil region 121 190 N/A INTRINSIC
coiled coil region 219 249 N/A INTRINSIC
low complexity region 301 309 N/A INTRINSIC
coiled coil region 331 519 N/A INTRINSIC
low complexity region 598 612 N/A INTRINSIC
low complexity region 625 638 N/A INTRINSIC
SH3 652 715 1.85e-11 SMART
low complexity region 733 759 N/A INTRINSIC
FN3 784 864 3.14e0 SMART
FN3 878 951 4.81e-4 SMART
FN3 975 1062 7.16e0 SMART
low complexity region 1254 1265 N/A INTRINSIC
low complexity region 1301 1313 N/A INTRINSIC
low complexity region 1387 1401 N/A INTRINSIC
low complexity region 1455 1471 N/A INTRINSIC
SH3 1619 1683 5.4e-13 SMART
low complexity region 1721 1732 N/A INTRINSIC
SH3 1758 1821 5.48e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100644
AA Change: S694G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: S694G

DomainStartEndE-ValueType
coiled coil region 121 190 N/A INTRINSIC
low complexity region 241 249 N/A INTRINSIC
coiled coil region 271 459 N/A INTRINSIC
low complexity region 538 552 N/A INTRINSIC
low complexity region 565 578 N/A INTRINSIC
SH3 592 655 1.85e-11 SMART
low complexity region 673 699 N/A INTRINSIC
FN3 724 804 3.14e0 SMART
FN3 818 891 4.81e-4 SMART
FN3 915 1002 7.16e0 SMART
low complexity region 1194 1205 N/A INTRINSIC
low complexity region 1241 1253 N/A INTRINSIC
low complexity region 1327 1341 N/A INTRINSIC
low complexity region 1395 1411 N/A INTRINSIC
SH3 1559 1623 5.4e-13 SMART
low complexity region 1661 1672 N/A INTRINSIC
SH3 1698 1761 5.48e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142329
SMART Domains Protein: ENSMUSP00000118819
Gene: ENSMUSG00000034156

DomainStartEndE-ValueType
low complexity region 72 83 N/A INTRINSIC
SH3 157 221 5.4e-13 SMART
low complexity region 259 270 N/A INTRINSIC
SH3 296 359 5.48e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144502
SMART Domains Protein: ENSMUSP00000122665
Gene: ENSMUSG00000034156

DomainStartEndE-ValueType
low complexity region 146 157 N/A INTRINSIC
PDB:2CSQ|A 223 250 8e-8 PDB
Blast:SH3 231 251 5e-6 BLAST
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Homozygous double-KO with Rimbp2tm1.2Geno does not exacerbate the phenotype of the latter single KO. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A C 1: 74,323,270 (GRCm39) probably null Het
Abhd10 C T 16: 45,563,169 (GRCm39) R29Q probably benign Het
Adgrv1 A G 13: 81,640,620 (GRCm39) Y3369H probably benign Het
Agl A G 3: 116,546,935 (GRCm39) I1305T probably benign Het
Apba3 A G 10: 81,108,889 (GRCm39) I551V probably damaging Het
Appbp2 A T 11: 85,082,577 (GRCm39) Y551* probably null Het
Btbd17 T C 11: 114,682,641 (GRCm39) N357S possibly damaging Het
Casp2 T C 6: 42,257,329 (GRCm39) F426S possibly damaging Het
Cdh5 A G 8: 104,839,633 (GRCm39) N35D probably benign Het
Cep350 G T 1: 155,790,494 (GRCm39) Q1354K probably damaging Het
Cep44 A G 8: 56,992,886 (GRCm39) C243R probably damaging Het
Chst4 A T 8: 110,757,471 (GRCm39) S131T probably damaging Het
Cox15 T C 19: 43,725,186 (GRCm39) N406D probably benign Het
Cttnbp2 C T 6: 18,380,467 (GRCm39) R1467H probably benign Het
Dock8 A G 19: 25,158,984 (GRCm39) D1714G probably null Het
Erbb2 G T 11: 98,318,135 (GRCm39) R457L probably damaging Het
Esyt3 T C 9: 99,203,493 (GRCm39) N463S probably benign Het
Fam171a1 C T 2: 3,226,189 (GRCm39) Q441* probably null Het
Fam186b T A 15: 99,181,773 (GRCm39) M142L probably benign Het
Git2 G T 5: 114,907,759 (GRCm39) C35* probably null Het
Gm21103 T G 14: 17,482,795 (GRCm39) Q202P probably damaging Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Hmcn2 C A 2: 31,250,908 (GRCm39) T790K probably benign Het
Hspg2 T A 4: 137,279,427 (GRCm39) L3114H probably damaging Het
Igkv3-10 A T 6: 70,549,965 (GRCm39) Q37L possibly damaging Het
Kcp G T 6: 29,487,511 (GRCm39) Y1106* probably null Het
Khsrp T C 17: 57,332,602 (GRCm39) D226G possibly damaging Het
Klre1 T A 6: 129,560,129 (GRCm39) W134R probably damaging Het
Lrrc66 A G 5: 73,787,320 (GRCm39) I10T probably benign Het
Map4 T C 9: 109,807,938 (GRCm39) M1T probably null Het
Met T A 6: 17,527,154 (GRCm39) I535K probably benign Het
Mmut T C 17: 41,263,730 (GRCm39) V500A possibly damaging Het
Mrgprb1 A G 7: 48,097,435 (GRCm39) V159A possibly damaging Het
Mrpl41 A G 2: 24,864,468 (GRCm39) L68P probably damaging Het
Mtmr4 T C 11: 87,491,439 (GRCm39) W135R probably damaging Het
Myh10 A G 11: 68,692,965 (GRCm39) D1420G probably benign Het
Naglu A C 11: 100,963,056 (GRCm39) D229A probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Ncln G T 10: 81,323,683 (GRCm39) Y517* probably null Het
Nr1h4 G A 10: 89,334,091 (GRCm39) R100* probably null Het
Or5k1 G A 16: 58,617,771 (GRCm39) T146M probably benign Het
P2rx5 A T 11: 73,051,474 (GRCm39) T18S probably damaging Het
Pclo T C 5: 14,729,271 (GRCm39) S2710P unknown Het
Pdhx A T 2: 102,903,659 (GRCm39) F46I probably benign Het
Piezo2 A T 18: 63,278,181 (GRCm39) L241* probably null Het
Pitpnm1 G A 19: 4,152,787 (GRCm39) V65M probably damaging Het
Rgs3 A G 4: 62,608,724 (GRCm39) D330G probably damaging Het
Scaf8 T C 17: 3,209,457 (GRCm39) V60A unknown Het
Sema4c A G 1: 36,592,101 (GRCm39) Y249H probably damaging Het
Spp2 T C 1: 88,335,050 (GRCm39) Y27H probably damaging Het
Sugct T A 13: 17,819,372 (GRCm39) I158F possibly damaging Het
Sympk A T 7: 18,788,017 (GRCm39) I1178F probably benign Het
Tmppe T C 9: 114,234,036 (GRCm39) Y112H probably benign Het
Trp53bp2 A G 1: 182,276,073 (GRCm39) T187A Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Vmn2r70 G C 7: 85,208,044 (GRCm39) S811C probably benign Het
Zfp638 T C 6: 83,844,181 (GRCm39) S15P unknown Het
Zfp763 A G 17: 33,237,769 (GRCm39) S459P probably damaging Het
Other mutations in Tspoap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Tspoap1 APN 11 87,668,647 (GRCm39) splice site probably null
IGL01718:Tspoap1 APN 11 87,671,081 (GRCm39) missense possibly damaging 0.90
IGL02427:Tspoap1 APN 11 87,653,341 (GRCm39) missense probably benign 0.00
IGL02487:Tspoap1 APN 11 87,653,342 (GRCm39) missense possibly damaging 0.90
IGL02730:Tspoap1 APN 11 87,672,535 (GRCm39) missense probably damaging 0.98
IGL02979:Tspoap1 APN 11 87,661,347 (GRCm39) missense probably damaging 1.00
R0384:Tspoap1 UTSW 11 87,657,280 (GRCm39) missense probably damaging 1.00
R0396:Tspoap1 UTSW 11 87,667,172 (GRCm39) splice site probably benign
R0470:Tspoap1 UTSW 11 87,666,988 (GRCm39) missense probably damaging 0.99
R0637:Tspoap1 UTSW 11 87,668,066 (GRCm39) splice site probably benign
R0671:Tspoap1 UTSW 11 87,653,635 (GRCm39) missense probably damaging 1.00
R0960:Tspoap1 UTSW 11 87,661,421 (GRCm39) splice site probably benign
R0989:Tspoap1 UTSW 11 87,656,649 (GRCm39) missense probably damaging 0.99
R1396:Tspoap1 UTSW 11 87,656,946 (GRCm39) missense probably damaging 1.00
R1792:Tspoap1 UTSW 11 87,656,707 (GRCm39) splice site probably null
R2901:Tspoap1 UTSW 11 87,668,801 (GRCm39) missense probably benign 0.00
R2902:Tspoap1 UTSW 11 87,668,801 (GRCm39) missense probably benign 0.00
R3969:Tspoap1 UTSW 11 87,653,272 (GRCm39) missense probably damaging 1.00
R4400:Tspoap1 UTSW 11 87,666,429 (GRCm39) missense probably damaging 1.00
R4599:Tspoap1 UTSW 11 87,670,347 (GRCm39) missense probably damaging 1.00
R4635:Tspoap1 UTSW 11 87,668,683 (GRCm39) missense probably benign 0.25
R4731:Tspoap1 UTSW 11 87,656,473 (GRCm39) missense probably benign 0.09
R4755:Tspoap1 UTSW 11 87,662,489 (GRCm39) missense possibly damaging 0.77
R4780:Tspoap1 UTSW 11 87,669,269 (GRCm39) missense possibly damaging 0.48
R4960:Tspoap1 UTSW 11 87,657,222 (GRCm39) nonsense probably null
R5494:Tspoap1 UTSW 11 87,666,031 (GRCm39) missense possibly damaging 0.47
R5687:Tspoap1 UTSW 11 87,667,952 (GRCm39) missense probably damaging 1.00
R6200:Tspoap1 UTSW 11 87,652,529 (GRCm39) missense possibly damaging 0.85
R6563:Tspoap1 UTSW 11 87,667,985 (GRCm39) missense possibly damaging 0.87
R6816:Tspoap1 UTSW 11 87,656,491 (GRCm39) missense probably benign
R6897:Tspoap1 UTSW 11 87,656,638 (GRCm39) missense probably damaging 1.00
R7215:Tspoap1 UTSW 11 87,661,315 (GRCm39) missense probably benign 0.02
R7341:Tspoap1 UTSW 11 87,657,205 (GRCm39) missense probably damaging 1.00
R7360:Tspoap1 UTSW 11 87,669,347 (GRCm39) missense probably benign 0.09
R7394:Tspoap1 UTSW 11 87,656,945 (GRCm39) nonsense probably null
R7483:Tspoap1 UTSW 11 87,652,351 (GRCm39) missense probably benign 0.00
R7617:Tspoap1 UTSW 11 87,654,451 (GRCm39) missense probably benign 0.02
R7793:Tspoap1 UTSW 11 87,655,136 (GRCm39) missense probably benign 0.00
R7814:Tspoap1 UTSW 11 87,666,350 (GRCm39) missense probably damaging 1.00
R8371:Tspoap1 UTSW 11 87,669,127 (GRCm39) missense probably benign 0.01
R8768:Tspoap1 UTSW 11 87,669,197 (GRCm39) missense probably benign 0.03
R8987:Tspoap1 UTSW 11 87,654,394 (GRCm39) missense probably damaging 1.00
R9004:Tspoap1 UTSW 11 87,670,284 (GRCm39) missense
R9259:Tspoap1 UTSW 11 87,670,350 (GRCm39) missense
R9339:Tspoap1 UTSW 11 87,668,839 (GRCm39) missense probably benign 0.01
R9424:Tspoap1 UTSW 11 87,652,082 (GRCm39) start gained probably benign
R9439:Tspoap1 UTSW 11 87,665,535 (GRCm39) missense probably damaging 0.98
R9455:Tspoap1 UTSW 11 87,661,359 (GRCm39) missense probably damaging 1.00
Z1176:Tspoap1 UTSW 11 87,666,883 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- AGCCATTGAGAAACCGCATG -3'
(R):5'- CGCAGATCTACTCTCTCAGGAG -3'

Sequencing Primer
(F):5'- CTCTGTCAGGGGAGCTCATG -3'
(R):5'- GATCTACTCTCTCAGGAGGCAAC -3'
Posted On 2019-05-15