Incidental Mutation 'R5398:Tcte1'
ID 429821
Institutional Source Beutler Lab
Gene Symbol Tcte1
Ensembl Gene ENSMUSG00000023949
Gene Name t-complex-associated testis expressed 1
Synonyms D17Sil1, Tcte-1
MMRRC Submission 042969-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5398 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 45834360-45853605 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 45850752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 343 (Q343*)
Ref Sequence ENSEMBL: ENSMUSP00000109175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113547] [ENSMUST00000180252]
AlphaFold A6H639
Predicted Effect probably null
Transcript: ENSMUST00000113547
AA Change: Q343*
SMART Domains Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
AA Change: Q343*

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 28 47 N/A INTRINSIC
low complexity region 206 222 N/A INTRINSIC
Blast:LRR 235 274 7e-14 BLAST
LRR 304 331 5.02e-6 SMART
LRR 332 358 1.28e-3 SMART
LRR 359 386 5.81e-2 SMART
LRR 387 414 2.05e-2 SMART
LRR 415 442 1.13e-4 SMART
Blast:LRR 443 470 3e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000180252
SMART Domains Protein: ENSMUSP00000136337
Gene: ENSMUSG00000096847

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Pfam:TMEM151 40 486 2e-213 PFAM
low complexity region 511 518 N/A INTRINSIC
low complexity region 542 556 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 95% (59/62)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A G 8: 25,362,595 (GRCm39) L34P possibly damaging Het
Adam34 A C 8: 44,104,278 (GRCm39) C456G probably damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Atp8b3 T C 10: 80,365,533 (GRCm39) D407G probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Chac1 T G 2: 119,183,725 (GRCm39) L109R possibly damaging Het
Csf2rb A G 15: 78,232,820 (GRCm39) D709G probably benign Het
Ddx42 T A 11: 106,115,724 (GRCm39) D112E probably benign Het
Dnah5 A G 15: 28,293,872 (GRCm39) K1326E probably benign Het
Dnajc3 T A 14: 119,209,799 (GRCm39) Y291* probably null Het
Dsg2 T C 18: 20,712,190 (GRCm39) F109L probably benign Het
Egfl8 T C 17: 34,833,613 (GRCm39) probably benign Het
Emb T A 13: 117,404,088 (GRCm39) I280N probably damaging Het
Gcc2 C A 10: 58,105,329 (GRCm39) N188K probably benign Het
Gdpd4 A T 7: 97,621,185 (GRCm39) H166L probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Itga11 A G 9: 62,653,205 (GRCm39) T360A probably benign Het
Kctd1 A G 18: 15,195,322 (GRCm39) S434P possibly damaging Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kif24 T C 4: 41,394,401 (GRCm39) E824G possibly damaging Het
Lekr1 T A 3: 65,688,807 (GRCm39) noncoding transcript Het
Ociad1 T A 5: 73,467,755 (GRCm39) V231E probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1l4 C A 2: 37,091,330 (GRCm39) Q26K probably benign Het
Pcdhb1 T C 18: 37,399,207 (GRCm39) L386P probably damaging Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Pcnx2 T C 8: 126,614,687 (GRCm39) K255E possibly damaging Het
Pex5l T A 3: 33,006,639 (GRCm39) I577F probably damaging Het
Ppl A G 16: 4,922,786 (GRCm39) M235T probably benign Het
Prl7d1 T A 13: 27,894,057 (GRCm39) I171F probably damaging Het
Ptprt T C 2: 161,769,512 (GRCm39) Y451C probably damaging Het
Ranbp17 A T 11: 33,424,998 (GRCm39) Y453N probably damaging Het
Rgs16 C T 1: 153,616,246 (GRCm39) T11I probably benign Het
Rragb G A X: 151,923,550 (GRCm39) G24E probably damaging Het
Scn9a T C 2: 66,318,387 (GRCm39) Y1479C probably damaging Het
Slc35f4 T C 14: 49,536,304 (GRCm39) T294A probably damaging Het
Slc39a6 A T 18: 24,730,936 (GRCm39) I61N probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spink12 A G 18: 44,240,794 (GRCm39) D60G possibly damaging Het
Sppl2a T C 2: 126,761,638 (GRCm39) I289V probably benign Het
Srebf2 A G 15: 82,055,443 (GRCm39) T176A probably damaging Het
Syce1l T C 8: 114,379,145 (GRCm39) L91S probably damaging Het
Tchhl1 T C 3: 93,378,910 (GRCm39) I538T probably benign Het
Tdpoz2 T G 3: 93,559,441 (GRCm39) D177A probably damaging Het
Thada T G 17: 84,733,614 (GRCm39) D1011A probably benign Het
Tnn T A 1: 159,975,092 (GRCm39) M112L probably benign Het
Traf1 T C 2: 34,835,447 (GRCm39) E325G probably damaging Het
Tyw1 T C 5: 130,305,998 (GRCm39) probably benign Het
Vmn2r111 C A 17: 22,792,252 (GRCm39) M1I probably null Het
Wdr11 C T 7: 129,232,956 (GRCm39) T996M probably damaging Het
Other mutations in Tcte1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Tcte1 APN 17 45,845,854 (GRCm39) missense probably damaging 1.00
IGL00945:Tcte1 APN 17 45,852,115 (GRCm39) missense probably benign 0.15
IGL01120:Tcte1 APN 17 45,850,594 (GRCm39) missense probably damaging 0.99
IGL01132:Tcte1 APN 17 45,850,788 (GRCm39) missense possibly damaging 0.93
IGL01884:Tcte1 APN 17 45,850,735 (GRCm39) splice site probably null
IGL02418:Tcte1 APN 17 45,852,128 (GRCm39) missense probably benign 0.37
IGL02731:Tcte1 APN 17 45,850,812 (GRCm39) missense probably benign 0.00
IGL03130:Tcte1 APN 17 45,844,222 (GRCm39) missense probably damaging 1.00
R0358:Tcte1 UTSW 17 45,846,211 (GRCm39) missense probably benign 0.34
R1519:Tcte1 UTSW 17 45,846,178 (GRCm39) missense probably damaging 1.00
R2013:Tcte1 UTSW 17 45,852,237 (GRCm39) missense probably benign 0.30
R2014:Tcte1 UTSW 17 45,852,237 (GRCm39) missense probably benign 0.30
R3744:Tcte1 UTSW 17 45,850,597 (GRCm39) missense probably damaging 0.99
R4250:Tcte1 UTSW 17 45,850,617 (GRCm39) missense probably benign 0.04
R4976:Tcte1 UTSW 17 45,845,854 (GRCm39) missense probably damaging 1.00
R6169:Tcte1 UTSW 17 45,845,996 (GRCm39) missense probably benign 0.01
R6251:Tcte1 UTSW 17 45,846,085 (GRCm39) missense probably benign
R6279:Tcte1 UTSW 17 45,844,215 (GRCm39) missense possibly damaging 0.69
R6300:Tcte1 UTSW 17 45,844,215 (GRCm39) missense possibly damaging 0.69
R6316:Tcte1 UTSW 17 45,845,786 (GRCm39) missense probably benign
R6417:Tcte1 UTSW 17 45,846,056 (GRCm39) missense probably damaging 0.97
R6892:Tcte1 UTSW 17 45,844,083 (GRCm39) missense probably benign
R7047:Tcte1 UTSW 17 45,844,294 (GRCm39) missense possibly damaging 0.52
R7645:Tcte1 UTSW 17 45,845,915 (GRCm39) missense probably benign 0.00
R8125:Tcte1 UTSW 17 45,850,618 (GRCm39) missense possibly damaging 0.88
R9710:Tcte1 UTSW 17 45,850,798 (GRCm39) missense possibly damaging 0.94
Z1176:Tcte1 UTSW 17 45,845,997 (GRCm39) missense probably benign
Z1177:Tcte1 UTSW 17 45,845,938 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CGGCAGGTGCTGTAAAACTC -3'
(R):5'- CTCAGACAGCTTGTTGCCAC -3'

Sequencing Primer
(F):5'- AGGTGCTGTAAAACTCCTACCTG -3'
(R):5'- ACAGCTTGTTGCCACCAAGG -3'
Posted On 2016-09-06