Incidental Mutation 'R9792:Ttc23l'
ID 734709
Institutional Source Beutler Lab
Gene Symbol Ttc23l
Ensembl Gene ENSMUSG00000022249
Gene Name tetratricopeptide repeat domain 23-like
Synonyms 4930401A09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R9792 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 10500188-10558754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10537731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 180 (I180F)
Ref Sequence ENSEMBL: ENSMUSP00000022857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022857] [ENSMUST00000167842] [ENSMUST00000167842]
AlphaFold A6H6E9
Predicted Effect probably benign
Transcript: ENSMUST00000022857
AA Change: I180F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: I180F

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 benign
Transcript: ENSMUST00000167842
AA Change: I180F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: I180F

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 benign
Transcript: ENSMUST00000167842
AA Change: I180F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,719 (GRCm39) D99G unknown Het
Add2 A T 6: 86,078,135 (GRCm39) probably null Het
Afap1l1 T C 18: 61,874,822 (GRCm39) D453G possibly damaging Het
Agrn A G 4: 156,261,129 (GRCm39) V656A probably benign Het
Alpk3 T C 7: 80,750,881 (GRCm39) probably null Het
Ano1 A T 7: 144,175,434 (GRCm39) W495R probably damaging Het
Apc T A 18: 34,447,628 (GRCm39) L1508Q probably damaging Het
Bbs12 C T 3: 37,374,224 (GRCm39) T224I possibly damaging Het
Cald1 A T 6: 34,723,071 (GRCm39) M52L Het
Calhm6 T C 10: 34,002,544 (GRCm39) I180V probably damaging Het
Ccdc9b T C 2: 118,587,784 (GRCm39) S517G unknown Het
Cdk11b T A 4: 155,732,378 (GRCm39) H510Q unknown Het
Cdk12 T A 11: 98,102,051 (GRCm39) D636E unknown Het
Cfap53 A G 18: 74,438,741 (GRCm39) D306G probably benign Het
Cnnm1 T C 19: 43,482,252 (GRCm39) probably null Het
Cnrip1 G A 11: 17,004,812 (GRCm39) A121T probably benign Het
Cntnap5c A T 17: 58,409,192 (GRCm39) T477S probably benign Het
Cyp2c54 G C 19: 40,034,525 (GRCm39) P382A probably damaging Het
Cyp4a30b A G 4: 115,316,167 (GRCm39) T298A probably benign Het
Dmkn A T 7: 30,464,845 (GRCm39) N273Y unknown Het
Dsp A G 13: 38,379,494 (GRCm39) T2080A possibly damaging Het
Ermard T C 17: 15,281,441 (GRCm39) L617P probably damaging Het
Grik3 A G 4: 125,526,315 (GRCm39) T183A probably damaging Het
Gstt1 T C 10: 75,634,391 (GRCm39) probably benign Het
Hao1 T A 2: 134,372,552 (GRCm39) Y152F possibly damaging Het
Hdac7 T C 15: 97,698,671 (GRCm39) T629A possibly damaging Het
Hmcn1 G A 1: 150,608,689 (GRCm39) P1498S possibly damaging Het
Iqcf3 T A 9: 106,434,714 (GRCm39) K41N probably benign Het
Lrriq3 T C 3: 154,893,313 (GRCm39) M338T probably benign Het
Ltbp2 A T 12: 84,876,128 (GRCm39) I493N probably damaging Het
Map1a T C 2: 121,121,304 (GRCm39) probably null Het
Mzf1 T C 7: 12,786,131 (GRCm39) T267A probably benign Het
N4bp2l2 A G 5: 150,584,897 (GRCm39) I19T probably benign Het
Ncoa2 G T 1: 13,260,355 (GRCm39) Q107K possibly damaging Het
Nin A T 12: 70,094,009 (GRCm39) I605N Het
Nr1h4 T G 10: 89,314,651 (GRCm39) T286P probably benign Het
Nsd2 A G 5: 34,003,489 (GRCm39) D213G possibly damaging Het
Nuggc T C 14: 65,847,345 (GRCm39) S131P probably damaging Het
Or4a78 T C 2: 89,497,811 (GRCm39) I140V probably benign Het
Or4f14c T C 2: 111,941,330 (GRCm39) H89R probably benign Het
Or52m1 G A 7: 102,289,788 (GRCm39) V112I probably benign Het
Or5b113 A T 19: 13,342,514 (GRCm39) H174L probably damaging Het
Or8h9 T A 2: 86,789,119 (GRCm39) I228F probably damaging Het
Otud7a C T 7: 63,378,845 (GRCm39) R232W probably damaging Het
Pacsin3 C A 2: 91,094,160 (GRCm39) A363D probably benign Het
Pcdh17 C T 14: 84,770,350 (GRCm39) R943* probably null Het
Pcnx2 A G 8: 126,534,820 (GRCm39) F1270L probably damaging Het
Pds5a T C 5: 65,795,989 (GRCm39) M634V probably benign Het
Pkd1 A G 17: 24,800,172 (GRCm39) T2978A probably benign Het
Pkhd1l1 T C 15: 44,406,983 (GRCm39) S2407P probably benign Het
Polr2i T C 7: 29,932,190 (GRCm39) Y44H probably damaging Het
Ppip5k2 A T 1: 97,671,822 (GRCm39) Y489* probably null Het
Ppp3r1 C A 11: 17,132,117 (GRCm39) A5E probably benign Het
Pramel60 C A 5: 95,339,810 (GRCm39) H110N probably damaging Het
Rasgrp1 T C 2: 117,118,429 (GRCm39) D520G probably benign Het
Rex2 A C 4: 147,142,039 (GRCm39) N176H probably damaging Het
Rsl1d1 T C 16: 11,017,300 (GRCm39) N194S possibly damaging Het
Sidt2 A G 9: 45,850,563 (GRCm39) Y851H probably damaging Het
Slc5a8 T C 10: 88,757,591 (GRCm39) I527T possibly damaging Het
Slc6a7 C A 18: 61,138,866 (GRCm39) R214L probably benign Het
Stx7 T C 10: 24,057,475 (GRCm39) L167P probably damaging Het
Tas2r120 A T 6: 132,634,528 (GRCm39) K203N possibly damaging Het
Tbc1d22a T C 15: 86,119,839 (GRCm39) L81P probably damaging Het
Tert A G 13: 73,792,442 (GRCm39) E903G probably benign Het
Tpm4 A G 8: 72,905,663 (GRCm39) I248V probably benign Het
Trim42 A G 9: 97,245,429 (GRCm39) I457T probably damaging Het
Usp9y T C Y: 1,364,679 (GRCm39) M1045V probably benign Het
Vim A G 2: 13,579,598 (GRCm39) D119G probably benign Het
Vmn1r82 A T 7: 12,039,083 (GRCm39) M119L probably benign Het
Vmn2r118 T C 17: 55,899,496 (GRCm39) T803A probably damaging Het
Vwa3a C A 7: 120,383,307 (GRCm39) A636D probably damaging Het
Zbtb7a G A 10: 80,980,378 (GRCm39) A191T probably benign Het
Zfp819 A G 7: 43,261,519 (GRCm39) H62R 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
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
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
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'- CCCCTTTTATCAGGCCACAA -3'
(R):5'- GGAACCCAAGGCCTTGTTCTT -3'

Sequencing Primer
(F):5'- CTTTTATCAGGCCACAAACCAG -3'
(R):5'- AAGGCCTTGTTCTTTTCCAGG -3'
Posted On 2022-11-14