Incidental Mutation 'R2013:Tcte1'
ID 222451
Institutional Source Beutler Lab
Gene Symbol Tcte1
Ensembl Gene ENSMUSG00000023949
Gene Name t-complex-associated testis expressed 1
Synonyms D17Sil1, Tcte-1
MMRRC Submission 040022-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2013 (G1)
Quality Score 215
Status Not validated
Chromosome 17
Chromosomal Location 45834360-45853605 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45852237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 490 (N490I)
Ref Sequence ENSEMBL: ENSMUSP00000109175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113547] [ENSMUST00000180252]
AlphaFold A6H639
Predicted Effect probably benign
Transcript: ENSMUST00000113547
AA Change: N490I

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
AA Change: N490I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T G 17: 48,347,723 (GRCm39) T194P possibly damaging Het
4921504E06Rik T A 2: 19,545,124 (GRCm39) M110L probably benign Het
Acad9 T G 3: 36,127,737 (GRCm39) I113R probably damaging Het
Adam34l T C 8: 44,079,442 (GRCm39) S261G possibly damaging Het
Adamts6 A T 13: 104,450,812 (GRCm39) I332F probably damaging Het
Adcy8 C T 15: 64,639,727 (GRCm39) G678S probably benign Het
Afg3l2 C T 18: 67,564,842 (GRCm39) V211I probably damaging Het
Ahnak T C 19: 8,991,937 (GRCm39) I4407T probably damaging Het
Alpl G T 4: 137,482,458 (GRCm39) H79N probably benign Het
Apc A G 18: 34,448,644 (GRCm39) I1813V probably damaging Het
Ascc3 T C 10: 50,525,908 (GRCm39) M540T probably damaging Het
Blm T C 7: 80,152,147 (GRCm39) E600G probably damaging Het
Btbd8 T C 5: 107,658,655 (GRCm39) W1742R probably damaging Het
Cadps T A 14: 12,522,337 (GRCm38) D609V probably damaging Het
Ccdc69 C T 11: 54,941,983 (GRCm39) M174I probably benign Het
Cdk13 A T 13: 17,913,748 (GRCm39) L877* probably null Het
Cdk14 T C 5: 5,143,047 (GRCm39) Y228C probably damaging Het
Dip2c C T 13: 9,617,882 (GRCm39) Q426* probably null Het
Dsp A G 13: 38,375,434 (GRCm39) N1073S probably damaging Het
Epyc T C 10: 97,511,655 (GRCm39) I216T probably damaging Het
Erbin A G 13: 103,994,041 (GRCm39) S300P probably damaging Het
Ercc3 A G 18: 32,381,482 (GRCm39) T433A probably benign Het
Exoc4 A G 6: 33,243,026 (GRCm39) T80A probably damaging Het
Foxm1 T A 6: 128,352,465 (GRCm39) probably null Het
Gaa A G 11: 119,175,409 (GRCm39) probably null Het
H2-Q4 A G 17: 35,599,526 (GRCm39) E203G probably damaging Het
Helt T C 8: 46,745,355 (GRCm39) D214G probably damaging Het
Hlcs A G 16: 94,063,599 (GRCm39) V487A probably benign Het
Hmmr A T 11: 40,619,259 (GRCm39) S74T possibly damaging Het
Hspa9 A T 18: 35,079,701 (GRCm39) Y243N probably damaging Het
Htt T G 5: 35,010,215 (GRCm39) L1556R probably damaging Het
Ift80 T C 3: 68,898,117 (GRCm39) K73E possibly damaging Het
Il6st G A 13: 112,635,423 (GRCm39) A551T probably null Het
Kdm5a T C 6: 120,408,951 (GRCm39) S1545P probably benign Het
Lef1 T A 3: 130,905,236 (GRCm39) I39N probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrp6 A G 6: 134,457,337 (GRCm39) probably null Het
Macf1 T C 4: 123,577,807 (GRCm39) D59G probably damaging Het
Maged1 T C X: 93,580,523 (GRCm39) Y636C possibly damaging Het
Mamdc4 T A 2: 25,453,584 (GRCm39) D1195V probably damaging Het
Mob3b A G 4: 35,083,922 (GRCm39) V89A probably benign Het
Mogs C T 6: 83,094,631 (GRCm39) R483* probably null Het
Mybphl A C 3: 108,282,718 (GRCm39) T203P probably benign Het
Myo15a A G 11: 60,385,057 (GRCm39) T1720A probably damaging Het
Myo16 T A 8: 10,552,796 (GRCm39) F945I probably damaging Het
Nbeal2 G A 9: 110,463,139 (GRCm39) L1309F probably benign Het
Nes A G 3: 87,883,985 (GRCm39) Q748R possibly damaging Het
Nhsl1 A T 10: 18,387,340 (GRCm39) R205W probably damaging Het
Nlrc3 A C 16: 3,782,974 (GRCm39) L161R probably damaging Het
Npy2r T A 3: 82,448,487 (GRCm39) D96V probably damaging Het
Or4d11 T A 19: 12,013,518 (GRCm39) E196V probably damaging Het
Or5w18 T G 2: 87,632,847 (GRCm39) V38G probably damaging Het
Pappa2 C T 1: 158,662,498 (GRCm39) C1159Y probably damaging Het
Phf21a T C 2: 92,058,828 (GRCm39) probably null Het
Pik3c2a T A 7: 115,950,166 (GRCm39) probably null Het
Psg22 A T 7: 18,453,560 (GRCm39) Y85F possibly damaging Het
Pttg1ip2 T A 5: 5,505,964 (GRCm39) I106L probably benign Het
Qtrt2 A G 16: 43,689,455 (GRCm39) I181T probably damaging Het
Sash1 A T 10: 8,605,177 (GRCm39) V1071D probably benign Het
Scn10a A T 9: 119,442,802 (GRCm39) I1481N probably damaging Het
Slc15a1 G A 14: 121,713,399 (GRCm39) A376V possibly damaging Het
Slc25a46 A T 18: 31,742,778 (GRCm39) H29Q probably benign Het
Slit2 T C 5: 48,459,832 (GRCm39) C1354R probably damaging Het
Ssu2 C T 6: 112,360,902 (GRCm39) E52K possibly damaging Het
Taar7e A T 10: 23,913,732 (GRCm39) H74L possibly damaging Het
Tent4b T A 8: 88,972,223 (GRCm39) probably null Het
Tpst2 G T 5: 112,455,880 (GRCm39) G140C probably damaging Het
Trip11 A T 12: 101,803,981 (GRCm39) F1634I probably damaging Het
Trpm2 A G 10: 77,761,600 (GRCm39) F1017L probably damaging Het
Utp18 A G 11: 93,766,948 (GRCm39) V253A possibly damaging Het
Vmn2r102 A G 17: 19,897,006 (GRCm39) T118A probably benign Het
Vmn2r14 T C 5: 109,369,109 (GRCm39) T155A probably benign Het
Vmn2r19 T A 6: 123,292,954 (GRCm39) M332K probably benign Het
Vmn2r71 T A 7: 85,269,845 (GRCm39) M452K probably benign Het
Vmn2r79 T G 7: 86,653,289 (GRCm39) L518R possibly damaging Het
Vps13b T C 15: 35,607,288 (GRCm39) S1074P probably damaging Het
Vps13d A G 4: 144,835,078 (GRCm39) S2757P probably damaging Het
Wdr33 C A 18: 32,022,029 (GRCm39) Q860K unknown Het
Zfp423 T A 8: 88,509,025 (GRCm39) I440F probably benign Het
Zup1 A G 10: 33,805,820 (GRCm39) V437A possibly 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
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
R5398:Tcte1 UTSW 17 45,850,752 (GRCm39) nonsense probably null
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'- GCAACTCCTGGAAGGCATATC -3'
(R):5'- AGCTAGTGCACACATTTCATCC -3'

Sequencing Primer
(F):5'- TCCTGGAAGGCATATCAGACAAC -3'
(R):5'- AGTGCACACATTTCATCCTTAGGTG -3'
Posted On 2014-08-25