Incidental Mutation 'R2901:Tspoap1'
ID 261476
Institutional Source Beutler Lab
Gene Symbol Tspoap1
Ensembl Gene ENSMUSG00000034156
Gene Name TSPO associated protein 1
Synonyms Bzrap1, peripheral
MMRRC Submission 040489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2901 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 87651367-87676754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87668801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 1358 (P1358L)
Ref Sequence ENSEMBL: ENSMUSP00000048063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039627] [ENSMUST00000100644]
AlphaFold Q7TNF8
Predicted Effect probably benign
Transcript: ENSMUST00000039627
AA Change: P1358L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: P1358L

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 benign
Transcript: ENSMUST00000100644
AA Change: P1298L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: P1298L

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: ENSMUST00000133645
SMART Domains Protein: ENSMUSP00000117356
Gene: ENSMUSG00000034156

DomainStartEndE-ValueType
low complexity region 39 50 N/A INTRINSIC
SH3 88 151 5.48e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135957
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148814
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T A 8: 10,038,231 (GRCm39) M276K probably damaging Het
Angpt4 G T 2: 151,753,259 (GRCm39) C3F unknown Het
C1qtnf1 A G 11: 118,338,930 (GRCm39) probably null Het
Cep192 C T 18: 68,002,512 (GRCm39) R2236C possibly damaging Het
Cep68 A G 11: 20,190,187 (GRCm39) L275P probably damaging Het
Clvs1 A G 4: 9,281,972 (GRCm39) K139E probably damaging Het
Col25a1 A T 3: 130,340,040 (GRCm39) E351V probably damaging Het
Dnah7a A T 1: 53,467,031 (GRCm39) L3611Q probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gm3336 T C 8: 71,173,275 (GRCm39) S96P possibly damaging Het
Gm9845 T A 3: 39,412,742 (GRCm39) noncoding transcript Het
Klf12 G T 14: 100,137,582 (GRCm39) F321L probably damaging Het
Klhl20 G T 1: 160,937,122 (GRCm39) C84* probably null Het
Krt23 T C 11: 99,374,797 (GRCm39) D260G probably damaging Het
Lpin1 T C 12: 16,603,999 (GRCm39) K578E probably benign Het
Mgat4f T C 1: 134,318,662 (GRCm39) L478P probably damaging Het
Mrc1 A G 2: 14,333,354 (GRCm39) H1345R possibly damaging Het
Nme8 A T 13: 19,859,834 (GRCm39) V23E probably benign Het
Or10w1 C T 19: 13,632,309 (GRCm39) P167L probably damaging Het
Or8g34 T A 9: 39,373,234 (GRCm39) I169N probably damaging Het
Prf1 A T 10: 61,136,098 (GRCm39) N125Y probably damaging Het
Ptp4a1 T C 1: 30,982,385 (GRCm39) N142D possibly damaging Het
Simc1 G A 13: 54,689,331 (GRCm39) probably null Het
Snai2 T C 16: 14,523,847 (GRCm39) S4P possibly damaging Het
Ssc4d G A 5: 135,993,517 (GRCm39) P113L possibly damaging Het
Stmn2 A G 3: 8,606,981 (GRCm39) I34V probably benign Het
Ubr3 T C 2: 69,846,536 (GRCm39) S1620P possibly damaging Het
Vps51 G A 19: 6,126,468 (GRCm39) R95W probably damaging Het
Zup1 C T 10: 33,803,608 (GRCm39) R492Q probably damaging Het
Zup1 T C 10: 33,804,059 (GRCm39) T472A probably benign 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
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
R7141:Tspoap1 UTSW 11 87,665,523 (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'- TTTGTGAGACTGACAGCGACG -3'
(R):5'- TAAGCTGGATTCTGGAGCAGG -3'

Sequencing Primer
(F):5'- CTGACAGCGACGAGGAGATCTTG -3'
(R):5'- AGAAGCCGGCTGCAATGTTC -3'
Posted On 2015-01-23