Incidental Mutation 'R8710:Ttc23l'
ID 669526
Institutional Source Beutler Lab
Gene Symbol Ttc23l
Ensembl Gene ENSMUSG00000022249
Gene Name tetratricopeptide repeat domain 23-like
Synonyms 4930401A09Rik
MMRRC Submission 068564-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R8710 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 10500188-10558754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10540021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 154 (I154T)
Ref Sequence ENSEMBL: ENSMUSP00000022857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022857] [ENSMUST00000167842] [ENSMUST00000167842]
AlphaFold A6H6E9
Predicted Effect probably damaging
Transcript: ENSMUST00000022857
AA Change: I154T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: I154T

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 probably damaging
Transcript: ENSMUST00000167842
AA Change: I154T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: I154T

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 probably damaging
Transcript: ENSMUST00000167842
AA Change: I154T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 9,005,495 (GRCm39) N1126S probably damaging Het
Ablim2 C T 5: 36,030,518 (GRCm39) A581V possibly damaging Het
Agpat5 T A 8: 18,928,105 (GRCm39) D223E possibly damaging Het
Anks3 A C 16: 4,775,976 (GRCm39) Y75* probably null Het
Ano5 T G 7: 51,243,419 (GRCm39) D847E probably damaging Het
Asb6 G T 2: 30,717,072 (GRCm39) T51K probably benign Het
Bahcc1 A G 11: 120,174,953 (GRCm39) E1702G probably damaging Het
Bend7 A G 2: 4,767,925 (GRCm39) M294V probably benign Het
Cadm1 T A 9: 47,759,466 (GRCm39) D392E probably damaging Het
Camkmt T C 17: 85,421,277 (GRCm39) probably benign Het
Cd300a A G 11: 114,785,501 (GRCm39) T149A probably benign Het
Cd69 A T 6: 129,246,573 (GRCm39) W153R possibly damaging Het
Cdc25c T A 18: 34,882,666 (GRCm39) probably benign Het
Clnk A C 5: 38,931,940 (GRCm39) C40W possibly damaging Het
Cthrc1 T A 15: 38,947,821 (GRCm39) L180Q probably damaging Het
Cyld A G 8: 89,436,523 (GRCm39) N271S probably damaging Het
Dnah14 T C 1: 181,517,876 (GRCm39) I2070T probably benign Het
Dnah17 A C 11: 117,932,973 (GRCm39) L3595R probably damaging Het
Edrf1 A G 7: 133,245,495 (GRCm39) Y211C probably damaging Het
Efcab6 A G 15: 83,902,849 (GRCm39) I167T probably benign Het
Elavl3 A T 9: 21,937,849 (GRCm39) Y148N probably damaging Het
Ermardl2 A T 17: 15,209,194 (GRCm39) N342I probably damaging Het
Fam83c A G 2: 155,671,642 (GRCm39) S598P probably benign Het
Gm38119 ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA 3: 92,645,197 (GRCm39) probably benign Het
Helb A G 10: 119,941,872 (GRCm39) L272P probably damaging Het
Iars2 A C 1: 185,027,783 (GRCm39) V715G probably benign Het
Iqgap2 T G 13: 95,796,756 (GRCm39) N1133H probably benign Het
Kifc5b T A 17: 27,139,880 (GRCm39) M43K probably damaging Het
Krtap7-1 T A 16: 89,305,008 (GRCm39) Y48F possibly damaging Het
Lag3 G A 6: 124,885,408 (GRCm39) T324I probably damaging Het
Mapkapk2 C A 1: 130,986,448 (GRCm39) A97S possibly damaging Het
Mettl4 A G 17: 95,041,072 (GRCm39) S361P probably damaging Het
Myh4 A G 11: 67,143,158 (GRCm39) T1029A probably benign Het
Nsl1 C A 1: 190,795,420 (GRCm39) A62D probably benign Het
Oas1e T A 5: 120,930,027 (GRCm39) K164* probably null Het
Obsl1 A G 1: 75,469,326 (GRCm39) F1205S probably benign Het
Or14j2 G T 17: 37,885,540 (GRCm39) A258E probably benign Het
Or1e1b-ps1 G A 11: 73,845,694 (GRCm39) M59I possibly damaging Het
Or8c15 C T 9: 38,121,066 (GRCm39) A237V possibly damaging Het
Or8g18 T A 9: 39,149,306 (GRCm39) Y138F probably benign Het
Pald1 A G 10: 61,183,232 (GRCm39) F334S probably benign Het
Pikfyve A G 1: 65,255,155 (GRCm39) E325G possibly damaging Het
Plekha8 A G 6: 54,599,245 (GRCm39) T215A probably benign Het
Ptprq T C 10: 107,411,919 (GRCm39) R1816G possibly damaging Het
Ralgps1 G A 2: 33,035,433 (GRCm39) L472F probably damaging Het
Rasal1 A T 5: 120,801,002 (GRCm39) T221S probably benign Het
Rfx6 A G 10: 51,601,501 (GRCm39) T607A probably damaging Het
Rnf214 T A 9: 45,778,748 (GRCm39) probably benign Het
Rtca A T 3: 116,291,303 (GRCm39) Y226N probably benign Het
Sash1 T A 10: 8,656,285 (GRCm39) N236Y possibly damaging Het
Skint11 A G 4: 114,051,951 (GRCm39) I100V probably benign Het
Skint5 A T 4: 113,483,787 (GRCm39) S948R unknown Het
Slc25a13 A T 6: 6,114,238 (GRCm39) Y279N probably benign Het
Slc5a2 T C 7: 127,864,966 (GRCm39) L33P probably damaging Het
Slco1a5 A T 6: 142,198,828 (GRCm39) V279E probably benign Het
Ssh3 G T 19: 4,313,833 (GRCm39) H475Q probably benign Het
Tapt1 A G 5: 44,351,743 (GRCm39) S107P probably benign Het
Tjp2 T C 19: 24,072,796 (GRCm39) E1166G probably damaging Het
Tll1 A G 8: 64,577,940 (GRCm39) L89P possibly damaging Het
Tmc4 G T 7: 3,678,463 (GRCm39) T123N probably benign Het
Tmem139 A G 6: 42,241,021 (GRCm39) D202G probably damaging Het
Trim35 T C 14: 66,545,367 (GRCm39) S313P probably damaging Het
Ttc9c T C 19: 8,795,860 (GRCm39) T60A probably benign Het
Wdfy3 G T 5: 102,030,349 (GRCm39) N2386K probably damaging Het
Wdpcp C A 11: 21,610,924 (GRCm39) Q49K probably benign Het
Xrn1 A T 9: 95,884,285 (GRCm39) Y867F Het
Zfp423 C T 8: 88,507,549 (GRCm39) E932K possibly damaging Het
Zfp592 T C 7: 80,673,321 (GRCm39) F95S probably damaging Het
Zfp644 T G 5: 106,782,997 (GRCm39) N1095H probably damaging Het
Zfp983 A T 17: 21,880,234 (GRCm39) N54I 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
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
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'- GGAGGGCCTAGATACTTGGAAC -3'
(R):5'- TGTGGCTCACAATAGGAACAG -3'

Sequencing Primer
(F):5'- GGCCTAGATACTTGGAACACAGC -3'
(R):5'- GCTCACAATAGGAACAGGACCTG -3'
Posted On 2021-04-30