Incidental Mutation 'R7687:Tcp10a'
ID 593178
Institutional Source Beutler Lab
Gene Symbol Tcp10a
Ensembl Gene ENSMUSG00000071322
Gene Name t-complex protein 10a
Synonyms Tcp-10a, D17Leh66A, T66A-a, D17Leh66aa, Gm10326
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R7687 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 7592055-7613259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7612507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 433 (V433D)
Ref Sequence ENSEMBL: ENSMUSP00000093394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095726] [ENSMUST00000128533] [ENSMUST00000129709] [ENSMUST00000138222] [ENSMUST00000140192]
AlphaFold Q80W76
Predicted Effect probably damaging
Transcript: ENSMUST00000095726
AA Change: V433D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093394
Gene: ENSMUSG00000071322
AA Change: V433D

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 241 256 N/A INTRINSIC
Pfam:Tcp10_C 263 437 1.3e-83 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128533
AA Change: V433D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114351
Gene: ENSMUSG00000071322
AA Change: V433D

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 241 256 N/A INTRINSIC
Pfam:Tcp10_C 261 438 1.1e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129709
AA Change: V433D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114830
Gene: ENSMUSG00000071322
AA Change: V433D

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 241 256 N/A INTRINSIC
Pfam:Tcp10_C 261 438 1.1e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138222
AA Change: V415D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115431
Gene: ENSMUSG00000071322
AA Change: V415D

DomainStartEndE-ValueType
coiled coil region 36 76 N/A INTRINSIC
low complexity region 223 238 N/A INTRINSIC
Pfam:Tcp10_C 245 419 6.7e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140192
SMART Domains Protein: ENSMUSP00000117557
Gene: ENSMUSG00000071322

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 241 256 N/A INTRINSIC
Pfam:Tcp10_C 261 401 3.5e-68 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,341 (GRCm39) K2383R probably benign Het
Acly C T 11: 100,395,680 (GRCm39) probably null Het
Baiap3 T A 17: 25,468,311 (GRCm39) I276F possibly damaging Het
Cdc14b A T 13: 64,357,007 (GRCm39) D419E probably benign Het
Celsr2 G T 3: 108,305,085 (GRCm39) P2165T probably benign Het
Clk4 A G 11: 51,172,225 (GRCm39) D476G probably benign Het
Dera A G 6: 137,813,878 (GRCm39) T10A Het
Dip2c A T 13: 9,654,617 (GRCm39) T742S probably benign Het
Dohh C A 10: 81,223,640 (GRCm39) A231E probably benign Het
Dot1l T G 10: 80,625,202 (GRCm39) S1150A possibly damaging Het
Eea1 T A 10: 95,862,460 (GRCm39) I794N probably benign Het
En2 T C 5: 28,375,287 (GRCm39) S277P probably damaging Het
Erich1 A G 8: 14,080,691 (GRCm39) L276P probably damaging Het
Flnb A G 14: 7,924,224 (GRCm38) N1779S probably damaging Het
Frzb T A 2: 80,254,979 (GRCm39) T186S probably benign Het
Gdf7 T A 12: 8,348,257 (GRCm39) R347* probably null Het
Ighv9-4 T C 12: 114,263,883 (GRCm39) I17V not run Het
Ipo13 G A 4: 117,769,088 (GRCm39) P235S probably benign Het
Itga2 C A 13: 115,002,796 (GRCm39) G565C probably damaging Het
Kcnc4 CCCGCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGCCGCCGCCGC 3: 107,365,925 (GRCm39) probably benign Het
Kcnk10 A G 12: 98,401,355 (GRCm39) I440T probably damaging Het
Kdm3a T A 6: 71,576,476 (GRCm39) K779N possibly damaging Het
Kmt2d C T 15: 98,760,001 (GRCm39) D1086N unknown Het
Kntc1 A G 5: 123,897,152 (GRCm39) I172V probably benign Het
Maip1 A G 1: 57,451,003 (GRCm39) E215G probably damaging Het
Mms19 A T 19: 41,943,607 (GRCm39) M417K possibly damaging Het
Mslnl T C 17: 25,962,157 (GRCm39) V185A probably damaging Het
Naa11 A T 5: 97,539,648 (GRCm39) V170E probably benign Het
Ncapg C T 5: 45,857,227 (GRCm39) P980S probably benign Het
Or2aj5 T C 16: 19,424,485 (GRCm39) N310S probably benign Het
Pbxip1 A G 3: 89,355,506 (GRCm39) D675G probably damaging Het
Pdlim5 A G 3: 141,983,608 (GRCm39) S382P probably benign Het
Pkd1l1 T A 11: 8,804,390 (GRCm39) I2184F Het
Plau A G 14: 20,889,866 (GRCm39) Y237C probably damaging Het
Ppl T C 16: 4,915,806 (GRCm39) T586A probably benign Het
Rapgef6 T G 11: 54,551,901 (GRCm39) I923S possibly damaging Het
Rbfox2 C T 15: 77,190,694 (GRCm39) G17D unknown Het
Sema3b T C 9: 107,481,013 (GRCm39) D108G probably damaging Het
Slc6a20a A G 9: 123,485,331 (GRCm39) I297T probably damaging Het
Slit1 A G 19: 41,639,128 (GRCm39) F261L probably benign Het
Tktl2 A G 8: 66,965,753 (GRCm39) E437G probably damaging Het
Tll1 G T 8: 64,574,526 (GRCm39) Y109* probably null Het
Tmem79 A G 3: 88,239,888 (GRCm39) V274A probably damaging Het
Tnfrsf23 G A 7: 143,235,199 (GRCm39) S55L probably benign Het
Ubd T C 17: 37,504,865 (GRCm39) probably null Het
Ubl3 C A 5: 148,442,985 (GRCm39) R105L possibly damaging Het
Ubl7 A T 9: 57,821,867 (GRCm39) D72V probably damaging Het
Wdr55 T C 18: 36,895,076 (GRCm39) S81P probably damaging Het
Wtip T C 7: 33,816,044 (GRCm39) Y344C probably damaging Het
Zfp488 A G 14: 33,692,357 (GRCm39) S269P possibly damaging Het
Zkscan2 A C 7: 123,099,085 (GRCm39) S36A probably benign Het
Other mutations in Tcp10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Tcp10a APN 17 7,610,899 (GRCm39) missense probably damaging 1.00
IGL01868:Tcp10a APN 17 7,597,263 (GRCm39) missense possibly damaging 0.79
IGL02942:Tcp10a APN 17 7,597,318 (GRCm39) missense probably damaging 0.99
IGL03293:Tcp10a APN 17 7,593,891 (GRCm39) missense possibly damaging 0.62
R0032:Tcp10a UTSW 17 7,604,306 (GRCm39) missense probably benign 0.02
R0129:Tcp10a UTSW 17 7,610,903 (GRCm39) missense probably damaging 1.00
R0271:Tcp10a UTSW 17 7,598,555 (GRCm39) missense probably benign 0.06
R0352:Tcp10a UTSW 17 7,593,805 (GRCm39) missense probably damaging 0.98
R0549:Tcp10a UTSW 17 7,593,950 (GRCm39) missense probably benign 0.11
R1445:Tcp10a UTSW 17 7,593,406 (GRCm39) critical splice donor site probably null
R2147:Tcp10a UTSW 17 7,601,701 (GRCm39) missense probably damaging 0.98
R2937:Tcp10a UTSW 17 7,597,173 (GRCm39) missense probably damaging 1.00
R4599:Tcp10a UTSW 17 7,604,323 (GRCm39) missense probably damaging 0.99
R4601:Tcp10a UTSW 17 7,593,374 (GRCm39) missense probably benign 0.01
R5982:Tcp10a UTSW 17 7,612,425 (GRCm39) missense possibly damaging 0.61
R7132:Tcp10a UTSW 17 7,612,351 (GRCm39) missense probably benign 0.16
R8290:Tcp10a UTSW 17 7,601,716 (GRCm39) missense probably benign 0.01
R9129:Tcp10a UTSW 17 7,593,935 (GRCm39) missense probably benign 0.41
R9478:Tcp10a UTSW 17 7,601,740 (GRCm39) missense probably benign 0.12
Z1088:Tcp10a UTSW 17 7,593,848 (GRCm39) missense probably damaging 1.00
Z1176:Tcp10a UTSW 17 7,592,117 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TGGCTCCACTTACCAGAGTG -3'
(R):5'- CAAGATGGTGGTGGCTACATG -3'

Sequencing Primer
(F):5'- GTCTCTATTCTACAGGAACGGAGAC -3'
(R):5'- GGTGGCTACATGGTCTCTTTCTTTAC -3'
Posted On 2019-11-12