Incidental Mutation 'R5160:Ttc23l'
ID 396957
Institutional Source Beutler Lab
Gene Symbol Ttc23l
Ensembl Gene ENSMUSG00000022249
Gene Name tetratricopeptide repeat domain 23-like
Synonyms 4930401A09Rik
MMRRC Submission 042742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5160 (G1)
Quality Score 225
Status Not 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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph G A 11: 20,662,197 (GRCm39) P681L probably benign Het
Akap9 A G 5: 4,080,007 (GRCm39) R1920G probably damaging Het
Ano9 G A 7: 140,684,278 (GRCm39) R495C probably damaging Het
Apoa5 A G 9: 46,181,794 (GRCm39) Y290C probably damaging Het
Apob T C 12: 8,062,126 (GRCm39) I3536T possibly damaging Het
Arhgap42 T G 9: 8,997,656 (GRCm39) K823T probably damaging Het
Bicc1 T C 10: 70,768,066 (GRCm39) Y850C probably damaging Het
Cdh2 A T 18: 16,762,644 (GRCm39) D433E probably damaging Het
Cfap100 A G 6: 90,390,692 (GRCm39) probably null Het
Col6a5 T C 9: 105,808,208 (GRCm39) N947D unknown Het
Col8a2 A G 4: 126,204,205 (GRCm39) K72E possibly damaging Het
Ddx18 A G 1: 121,493,608 (GRCm39) probably null Het
Dna2 T C 10: 62,782,933 (GRCm39) V21A probably benign Het
Dnaja3 T A 16: 4,502,152 (GRCm39) M52K probably benign Het
Fnip2 G A 3: 79,396,298 (GRCm39) T504I probably damaging Het
Il18 G A 9: 50,489,193 (GRCm39) probably null Het
Ina T A 19: 47,003,519 (GRCm39) I109N probably damaging Het
Katnb1 G T 8: 95,822,098 (GRCm39) V275L probably benign Het
Kdm6b C A 11: 69,291,594 (GRCm39) probably benign Het
Kifc2 T A 15: 76,547,177 (GRCm39) L251Q probably damaging Het
Kmt2d A G 15: 98,738,105 (GRCm39) probably benign Het
Lcor T A 19: 41,544,053 (GRCm39) V82E probably damaging Het
Limk2 A C 11: 3,300,772 (GRCm39) V190G probably damaging Het
Luc7l A G 17: 26,486,271 (GRCm39) D150G probably benign Het
Magi3 T A 3: 103,935,224 (GRCm39) H903L possibly damaging Het
Mdh1b C T 1: 63,764,804 (GRCm39) R33Q probably null Het
Myo9a T C 9: 59,779,085 (GRCm39) F1614L probably benign Het
Ngly1 A G 14: 16,281,751 (GRCm38) T210A probably damaging Het
Oas1h A G 5: 121,009,145 (GRCm39) Y285C probably damaging Het
Or1l4b T A 2: 37,036,815 (GRCm39) M197K probably benign Het
Or2h1 T C 17: 37,404,616 (GRCm39) D50G possibly damaging Het
Or2y12 T C 11: 49,426,516 (GRCm39) L168P probably damaging Het
Or4a79 T C 2: 89,551,763 (GRCm39) R231G probably damaging Het
Or5ac25 C T 16: 59,182,129 (GRCm39) G151R probably damaging Het
Or9s23 C T 1: 92,501,544 (GRCm39) T217I probably benign Het
Osbpl7 T C 11: 96,945,382 (GRCm39) S81P probably damaging Het
Pcdha3 T C 18: 37,079,480 (GRCm39) V74A probably damaging Het
Pi4ka T C 16: 17,140,917 (GRCm39) D68G probably benign Het
Prkcz A T 4: 155,377,689 (GRCm39) V79D probably benign Het
Ptpn12 T A 5: 21,202,829 (GRCm39) I650F probably damaging Het
Rb1 A G 14: 73,501,895 (GRCm39) silent Het
Rnaseh2b T G 14: 62,590,980 (GRCm39) Y56* probably null Het
Ryr3 A T 2: 112,477,272 (GRCm39) C4495S probably damaging Het
Tk1 A G 11: 117,715,572 (GRCm39) I45T possibly damaging Het
Upp1 T C 11: 9,085,193 (GRCm39) S227P possibly damaging Het
Vmn1r30 T A 6: 58,412,368 (GRCm39) N155Y probably benign Het
Wdr35 C T 12: 9,058,487 (GRCm39) A548V probably damaging Het
Zc3h3 A T 15: 75,681,512 (GRCm39) M523K probably benign Het
Zc3h4 T C 7: 16,168,573 (GRCm39) L894P unknown Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp873 C T 10: 81,896,876 (GRCm39) H536Y possibly damaging Het
Zmym4 A T 4: 126,763,977 (GRCm39) N1354K probably damaging Het
Zscan20 A G 4: 128,486,275 (GRCm39) S142P possibly 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
R5161: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'- TGCATGCTTTCAAATGACAACCTG -3'
(R):5'- CCACACTGCTGGCTTAGAAG -3'

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