Incidental Mutation 'R5161:Ttc23l'
ID 397016
Institutional Source Beutler Lab
Gene Symbol Ttc23l
Ensembl Gene ENSMUSG00000022249
Gene Name tetratricopeptide repeat domain 23-like
Synonyms 4930401A09Rik
MMRRC Submission 042743-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5161 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 10500188-10558754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10551636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 30 (T30K)
Ref Sequence ENSEMBL: ENSMUSP00000022857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022857] [ENSMUST00000166039] [ENSMUST00000167842] [ENSMUST00000167842]
AlphaFold A6H6E9
Predicted Effect possibly damaging
Transcript: ENSMUST00000022857
AA Change: T30K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: T30K

DomainStartEndE-ValueType
TPR 159 192 4.21e1 SMART
Blast:TPR 208 239 2e-6 BLAST
TPR 250 283 1.4e1 SMART
low complexity region 292 303 N/A INTRINSIC
TPR 376 409 9.53e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166039
SMART Domains Protein: ENSMUSP00000131180
Gene: ENSMUSG00000022249

DomainStartEndE-ValueType
Blast:TPR 183 209 9e-11 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000167842
AA Change: T30K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: T30K

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
Pfam:TPR_1 102 133 3.3e-6 PFAM
low complexity region 148 160 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167842
AA Change: T30K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.1531 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,055,344 (GRCm39) E27* probably null Het
4930407I10Rik G T 15: 81,947,542 (GRCm39) E480* probably null Het
Acad11 T C 9: 104,001,227 (GRCm39) I591T probably benign Het
Acsbg3 A T 17: 57,189,888 (GRCm39) I305F possibly damaging Het
Adamts13 G A 2: 26,883,020 (GRCm39) E857K probably benign Het
Atf2 A C 2: 73,660,134 (GRCm39) probably null Het
Cass4 C A 2: 172,274,244 (GRCm39) A675E probably damaging Het
Coa8 C A 12: 111,689,208 (GRCm39) Q97K possibly damaging Het
Ctsd A T 7: 141,930,881 (GRCm39) L283Q probably damaging Het
Ddrgk1 A T 2: 130,505,296 (GRCm39) M1K probably null Het
Dipk1b C T 2: 26,526,260 (GRCm39) T398M possibly damaging Het
Dock1 G A 7: 134,335,791 (GRCm39) A62T possibly damaging Het
Ehmt1 T C 2: 24,748,207 (GRCm39) D407G possibly damaging Het
Eif1ad17 T A 12: 87,978,887 (GRCm39) D90E possibly damaging Het
Eml6 A G 11: 29,974,467 (GRCm39) V37A probably damaging Het
Fam20a C T 11: 109,564,196 (GRCm39) R519Q probably benign Het
Fat1 A G 8: 45,405,549 (GRCm39) T767A probably benign Het
Fbxl8 A T 8: 105,995,538 (GRCm39) H350L possibly damaging Het
Gm10226 A C 17: 21,910,834 (GRCm39) Q23P possibly damaging Het
Gm38706 A T 6: 130,459,868 (GRCm39) noncoding transcript Het
Gpatch2l G T 12: 86,313,950 (GRCm39) R362L probably benign Het
Hyal5 A T 6: 24,891,602 (GRCm39) D472V probably benign Het
Ighv5-9-1 T C 12: 113,699,777 (GRCm39) S102G possibly damaging Het
Itpripl1 A C 2: 126,983,777 (GRCm39) L115R probably damaging Het
Itsn1 G A 16: 91,705,726 (GRCm39) C169Y possibly damaging Het
Krt88 T A 15: 101,348,349 (GRCm39) C12S probably benign Het
Macroh2a1 T C 13: 56,237,594 (GRCm39) D222G probably benign Het
Muc4 G A 16: 32,582,895 (GRCm39) V2557M probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nbeal2 G T 9: 110,458,936 (GRCm39) Q1996K probably benign Het
Obscn T C 11: 58,919,430 (GRCm39) E6205G probably damaging Het
Obscn A G 11: 58,955,136 (GRCm39) Y3926H possibly damaging Het
Or14a259 T C 7: 86,013,546 (GRCm39) probably null Het
Or5an10 A T 19: 12,276,153 (GRCm39) S114R probably damaging Het
P2ry2 A T 7: 100,648,136 (GRCm39) Y56* probably null Het
Pate10 T A 9: 35,652,884 (GRCm39) L42* probably null Het
Pde1a T C 2: 79,708,488 (GRCm39) N242S probably null Het
Pik3cg C T 12: 32,254,977 (GRCm39) E337K possibly damaging Het
Plxna2 A G 1: 194,433,712 (GRCm39) N587S probably benign Het
Pmpca T C 2: 26,285,183 (GRCm39) probably null Het
Ptpn4 C T 1: 119,635,593 (GRCm39) W370* probably null Het
Qki A T 17: 10,434,419 (GRCm39) probably null Het
Rapgef3 A G 15: 97,655,606 (GRCm39) V427A probably damaging Het
Rbbp8 T G 18: 11,855,171 (GRCm39) D465E probably damaging Het
Scn2a A G 2: 65,594,935 (GRCm39) K1928R probably benign Het
Slc5a5 A C 8: 71,341,492 (GRCm39) C346G probably damaging Het
Spata2l A G 8: 123,962,288 (GRCm39) L91P probably damaging Het
Syt3 C A 7: 44,045,439 (GRCm39) H560N possibly damaging Het
Timm23 G A 14: 31,915,882 (GRCm39) P63L probably damaging Het
Tmem191 T C 16: 17,094,743 (GRCm39) S108P possibly damaging Het
Ttc21b A G 2: 66,059,367 (GRCm39) C545R probably damaging Het
Usp17ld A T 7: 102,899,579 (GRCm39) L451* probably null Het
Vmn1r15 T C 6: 57,235,497 (GRCm39) Y122H probably benign Het
Vxn G T 1: 9,692,902 (GRCm39) G145* probably null Het
Zfp1002 A T 2: 150,097,135 (GRCm39) I98K probably damaging Het
Other mutations in Ttc23l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Ttc23l APN 15 10,530,775 (GRCm39) missense probably damaging 1.00
IGL01319:Ttc23l APN 15 10,509,492 (GRCm39) splice site probably benign
IGL01562:Ttc23l APN 15 10,551,476 (GRCm39) splice site probably benign
IGL01969:Ttc23l APN 15 10,551,520 (GRCm39) nonsense probably null
IGL03172:Ttc23l APN 15 10,537,652 (GRCm39) missense probably benign 0.06
R0042:Ttc23l UTSW 15 10,551,627 (GRCm39) missense probably damaging 1.00
R0042:Ttc23l UTSW 15 10,551,627 (GRCm39) missense probably damaging 1.00
R0335:Ttc23l UTSW 15 10,540,049 (GRCm39) missense probably benign 0.26
R0554:Ttc23l UTSW 15 10,530,743 (GRCm39) missense probably benign 0.12
R0609:Ttc23l UTSW 15 10,504,622 (GRCm39) missense probably benign
R0631:Ttc23l UTSW 15 10,540,066 (GRCm39) missense probably damaging 1.00
R1703:Ttc23l UTSW 15 10,523,744 (GRCm39) missense probably damaging 1.00
R2106:Ttc23l UTSW 15 10,547,342 (GRCm39) missense probably damaging 1.00
R2220:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2276:Ttc23l UTSW 15 10,523,678 (GRCm39) missense possibly damaging 0.92
R2277:Ttc23l UTSW 15 10,523,678 (GRCm39) missense possibly damaging 0.92
R2278:Ttc23l UTSW 15 10,523,678 (GRCm39) missense possibly damaging 0.92
R2279:Ttc23l UTSW 15 10,523,678 (GRCm39) missense possibly damaging 0.92
R2368:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2368:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R2420:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2420:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R2421:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2422:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2422:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R2830:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R2831:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2831:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R2979:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2980:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2980:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R2981:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2981:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R2982:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R2982:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R2983:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R2983:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R3176:Ttc23l UTSW 15 10,547,318 (GRCm39) missense possibly damaging 0.83
R3177:Ttc23l UTSW 15 10,547,318 (GRCm39) missense possibly damaging 0.83
R3276:Ttc23l UTSW 15 10,547,318 (GRCm39) missense possibly damaging 0.83
R3277:Ttc23l UTSW 15 10,547,318 (GRCm39) missense possibly damaging 0.83
R3722:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R3722:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R3743:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R3743:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R3767:Ttc23l UTSW 15 10,530,781 (GRCm39) missense possibly damaging 0.94
R3921:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R3921:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R3921:Ttc23l UTSW 15 10,537,649 (GRCm39) small insertion probably benign
R4091:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R4091:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R4119:Ttc23l UTSW 15 10,540,006 (GRCm39) missense probably damaging 1.00
R4120:Ttc23l UTSW 15 10,540,006 (GRCm39) missense probably damaging 1.00
R4373:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R4373:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R4375:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R4375:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R4376:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R4376:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R4377:Ttc23l UTSW 15 10,537,648 (GRCm39) small insertion probably benign
R4377:Ttc23l UTSW 15 10,537,652 (GRCm39) missense probably benign 0.06
R5002:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5106:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5107:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5109:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5156:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5157:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5160:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5259:Ttc23l UTSW 15 10,515,236 (GRCm39) missense probably damaging 0.99
R5307:Ttc23l UTSW 15 10,533,745 (GRCm39) missense probably damaging 1.00
R5728:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5756:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5772:Ttc23l UTSW 15 10,551,555 (GRCm39) missense probably benign 0.01
R5793:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5794:Ttc23l UTSW 15 10,551,636 (GRCm39) missense possibly damaging 0.95
R5847:Ttc23l UTSW 15 10,537,682 (GRCm39) missense probably benign 0.07
R6976:Ttc23l UTSW 15 10,537,666 (GRCm39) nonsense probably null
R7010:Ttc23l UTSW 15 10,515,224 (GRCm39) missense probably damaging 1.00
R7342:Ttc23l UTSW 15 10,551,583 (GRCm39) missense probably benign 0.01
R7404:Ttc23l UTSW 15 10,551,663 (GRCm39) missense probably damaging 0.98
R7453:Ttc23l UTSW 15 10,533,853 (GRCm39) missense probably damaging 1.00
R7584:Ttc23l UTSW 15 10,533,794 (GRCm39) missense probably damaging 1.00
R7599:Ttc23l UTSW 15 10,533,766 (GRCm39) missense possibly damaging 0.89
R8710:Ttc23l UTSW 15 10,540,021 (GRCm39) missense probably damaging 1.00
R8927:Ttc23l UTSW 15 10,530,720 (GRCm39) missense probably damaging 1.00
R8928:Ttc23l UTSW 15 10,530,720 (GRCm39) missense probably damaging 1.00
R9101:Ttc23l UTSW 15 10,537,661 (GRCm39) missense probably benign 0.16
R9746:Ttc23l UTSW 15 10,523,729 (GRCm39) missense probably benign 0.01
R9782:Ttc23l UTSW 15 10,530,767 (GRCm39) missense probably damaging 1.00
R9792:Ttc23l UTSW 15 10,537,731 (GRCm39) missense probably benign
R9793:Ttc23l UTSW 15 10,537,731 (GRCm39) missense probably benign
R9795:Ttc23l UTSW 15 10,537,731 (GRCm39) missense probably benign
Z1088:Ttc23l UTSW 15 10,533,753 (GRCm39) missense probably damaging 1.00
Z1177:Ttc23l UTSW 15 10,533,719 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCATGCTTTCAAATGACAACC -3'
(R):5'- CCACACTGCTGGCTTAGAAG -3'

Sequencing Primer
(F):5'- TGCTTTCAAATGACAACCTGAAC -3'
(R):5'- CTTAGAAGCTAGGTCTTGAGAGTAG -3'
Posted On 2016-06-21