Incidental Mutation 'R6401:Tcp10b'
ID 516179
Institutional Source Beutler Lab
Gene Symbol Tcp10b
Ensembl Gene ENSMUSG00000055602
Gene Name t-complex protein 10b
Synonyms Tcp-10b, Tcp-10bt, D17Leh66ba, T66B-a, D17Leh66B
MMRRC Submission 044548-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6401 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 13279987-13301124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13292466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 296 (N296K)
Ref Sequence ENSEMBL: ENSMUSP00000128059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086787] [ENSMUST00000116666] [ENSMUST00000163227]
AlphaFold E9PYJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000086787
AA Change: N296K

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083997
Gene: ENSMUSG00000055602
AA Change: N296K

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 245 255 N/A INTRINSIC
Pfam:Tcp10_C 261 438 2.3e-91 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000116666
AA Change: N296K

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112365
Gene: ENSMUSG00000055602
AA Change: N296K

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 245 255 N/A INTRINSIC
Pfam:Tcp10_C 263 437 1.5e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163227
AA Change: N296K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128059
Gene: ENSMUSG00000055602
AA Change: N296K

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 245 255 N/A INTRINSIC
Pfam:Tcp10_C 261 401 1.3e-68 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 93% (41/44)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano3 T A 2: 110,605,459 (GRCm39) N249I probably benign Het
Ap3s1 A C 18: 46,891,074 (GRCm39) I56L probably benign Het
Ccn5 T C 2: 163,670,946 (GRCm39) I151T probably benign Het
Cngb1 A G 8: 96,030,367 (GRCm39) probably benign Het
Col2a1 T C 15: 97,883,773 (GRCm39) T570A unknown Het
Cyp3a16 T C 5: 145,377,174 (GRCm39) E471G probably damaging Het
D930020B18Rik A G 10: 121,477,762 (GRCm39) N14D possibly damaging Het
Ext1 T C 15: 52,969,493 (GRCm39) E365G possibly damaging Het
Fbn1 C A 2: 125,188,370 (GRCm39) V1490F probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Ifi209 T C 1: 173,472,269 (GRCm39) M370T probably damaging Het
Ighv2-4 G T 12: 113,617,082 (GRCm39) P60Q probably damaging Het
Kif19b A T 5: 140,442,698 (GRCm39) T80S possibly damaging Het
Ldb3 A T 14: 34,299,291 (GRCm39) L111Q probably benign Het
Mcmbp G T 7: 128,308,783 (GRCm39) L413I possibly damaging Het
Mib1 T A 18: 10,795,802 (GRCm39) M721K probably benign Het
Nos3 A G 5: 24,584,809 (GRCm39) T738A probably benign Het
Notch3 T A 17: 32,377,597 (GRCm39) I160L probably benign Het
Nrxn3 C A 12: 89,221,770 (GRCm39) N516K possibly damaging Het
Nt5c2 A G 19: 46,878,250 (GRCm39) Y496H probably benign Het
Or13f5 A C 4: 52,826,242 (GRCm39) T282P probably damaging Het
Or1n1 A T 2: 36,750,177 (GRCm39) L61* probably null Het
Or5b111 T C 19: 13,290,878 (GRCm39) Y257C probably damaging Het
Polm A T 11: 5,779,491 (GRCm39) W436R probably damaging Het
Prex2 T A 1: 11,256,951 (GRCm39) I1221N probably benign Het
Rfpl4b T C 10: 38,696,941 (GRCm39) H220R possibly damaging Het
Rgs12 T C 5: 35,177,676 (GRCm39) F79L probably damaging Het
Rxfp2 A G 5: 149,966,595 (GRCm39) D111G probably benign Het
Smg7 A G 1: 152,715,887 (GRCm39) probably null Het
Spata22 T C 11: 73,224,180 (GRCm39) S34P probably damaging Het
St7 T A 6: 17,855,317 (GRCm39) probably null Het
Stk31 A G 6: 49,400,372 (GRCm39) E399G probably damaging Het
Tonsl T C 15: 76,517,866 (GRCm39) Y645C probably damaging Het
Ttn A T 2: 76,800,206 (GRCm39) M334K probably benign Het
Vcpkmt C A 12: 69,629,619 (GRCm39) V48F probably damaging Het
Vmn2r112 T A 17: 22,822,532 (GRCm39) Y403* probably null Het
Vwa7 G A 17: 35,236,286 (GRCm39) probably null Het
Wscd2 A T 5: 113,726,206 (GRCm39) *572C probably null Het
Xpo7 A G 14: 70,919,787 (GRCm39) L676P probably damaging Het
Zbtb32 A C 7: 30,291,244 (GRCm39) L17W probably damaging Het
Other mutations in Tcp10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Tcp10b APN 17 13,299,047 (GRCm39) missense probably damaging 1.00
IGL03296:Tcp10b APN 17 13,292,443 (GRCm39) missense probably damaging 0.97
maimonides UTSW 17 13,292,466 (GRCm39) missense probably damaging 0.97
BB004:Tcp10b UTSW 17 13,288,579 (GRCm39) missense probably benign 0.00
BB014:Tcp10b UTSW 17 13,288,579 (GRCm39) missense probably benign 0.00
H8441:Tcp10b UTSW 17 13,289,748 (GRCm39) missense probably damaging 0.98
R1817:Tcp10b UTSW 17 13,286,590 (GRCm39) missense possibly damaging 0.92
R1901:Tcp10b UTSW 17 13,300,513 (GRCm39) missense possibly damaging 0.56
R4657:Tcp10b UTSW 17 13,292,504 (GRCm39) critical splice donor site probably null
R4749:Tcp10b UTSW 17 13,289,832 (GRCm39) critical splice donor site probably null
R5335:Tcp10b UTSW 17 13,281,954 (GRCm39) critical splice donor site probably null
R7161:Tcp10b UTSW 17 13,300,633 (GRCm39) makesense probably null
R7927:Tcp10b UTSW 17 13,288,579 (GRCm39) missense probably benign 0.00
R8549:Tcp10b UTSW 17 13,281,915 (GRCm39) missense probably benign 0.21
R9055:Tcp10b UTSW 17 13,281,828 (GRCm39) missense probably damaging 1.00
R9099:Tcp10b UTSW 17 13,280,656 (GRCm39) unclassified probably benign
R9105:Tcp10b UTSW 17 13,285,236 (GRCm39) missense probably benign 0.08
R9801:Tcp10b UTSW 17 13,281,867 (GRCm39) missense possibly damaging 0.67
X0062:Tcp10b UTSW 17 13,281,948 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGCAGTTAGTATCCAGCATGTC -3'
(R):5'- AAGAAAGTGCTGACCTCATGC -3'

Sequencing Primer
(F):5'- ACAGTGGGCAGTGATTTTGAATAC -3'
(R):5'- AAGTGCTGACCTCATGCCTTCC -3'
Posted On 2018-05-04