Incidental Mutation 'R5109:Ttc23l'
ID 393767
Institutional Source Beutler Lab
Gene Symbol Ttc23l
Ensembl Gene ENSMUSG00000022249
Gene Name tetratricopeptide repeat domain 23-like
Synonyms 4930401A09Rik
MMRRC Submission 042697-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5109 (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: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 95% (78/82)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 T C 5: 90,391,395 (GRCm39) S1841G possibly damaging Het
Anxa10 T C 8: 62,516,093 (GRCm39) E193G possibly damaging Het
Ap3d1 T C 10: 80,545,284 (GRCm39) S1056G probably benign Het
Apbb1 T C 7: 105,214,242 (GRCm39) N62D probably damaging Het
Apobec2 A T 17: 48,730,022 (GRCm39) Y215N probably damaging Het
Apobec2 T A 17: 48,730,024 (GRCm39) Y214F probably damaging Het
Appl2 A T 10: 83,436,871 (GRCm39) V630E probably benign Het
Bud23 T C 5: 135,089,877 (GRCm39) probably benign Het
Cacna1b A T 2: 24,580,797 (GRCm39) M683K possibly damaging Het
Cbfa2t2 T A 2: 154,373,293 (GRCm39) D187E probably damaging Het
Cfap54 G T 10: 92,773,753 (GRCm39) F96L probably benign Het
Cimap1a A T 7: 140,429,461 (GRCm39) S197C probably benign Het
Crebbp A G 16: 3,906,295 (GRCm39) probably benign Het
Crocc C T 4: 140,755,722 (GRCm39) R1102Q probably damaging Het
Dcaf12 T C 4: 41,298,329 (GRCm39) D273G possibly damaging Het
Dchs1 T C 7: 105,414,221 (GRCm39) T865A probably benign Het
Dhfr A T 13: 92,491,788 (GRCm39) I8F probably damaging Het
Dnaja2 A T 8: 86,279,887 (GRCm39) F97L possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Doc2b T C 11: 75,667,967 (GRCm39) D261G probably benign Het
Ear1 A G 14: 44,056,485 (GRCm39) Y128H probably benign Het
Elac2 T A 11: 64,883,142 (GRCm39) I171N probably damaging Het
Entpd3 C A 9: 120,395,380 (GRCm39) N454K possibly damaging Het
Flrt3 A G 2: 140,502,663 (GRCm39) S322P possibly damaging Het
Fn1 C T 1: 71,688,394 (GRCm39) C170Y probably damaging Het
Gabbr1 T A 17: 37,382,920 (GRCm39) probably benign Het
Gm7247 T G 14: 51,602,774 (GRCm39) S37A probably damaging Het
Gm8775 T A 3: 4,277,008 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gria4 A C 9: 4,472,168 (GRCm39) N440K probably damaging Het
H2-T22 T A 17: 36,350,113 (GRCm39) R334* probably null Het
Ift172 T C 5: 31,423,330 (GRCm39) D817G probably benign Het
Igkv9-124 T A 6: 67,919,348 (GRCm39) R21S possibly damaging Het
Itgam G A 7: 127,712,390 (GRCm39) V846I probably benign Het
Kif11 T A 19: 37,373,063 (GRCm39) M94K possibly damaging Het
Krtcap2 T C 3: 89,154,085 (GRCm39) V2A probably benign Het
Lrrc47 A G 4: 154,101,933 (GRCm39) D400G probably damaging Het
Man2a1 T A 17: 65,059,443 (GRCm39) V1110E probably benign Het
Mfsd9 T A 1: 40,813,365 (GRCm39) I317F probably damaging Het
Mindy4 A T 6: 55,193,730 (GRCm39) probably null Het
Mrpl53 A G 6: 83,086,541 (GRCm39) T82A probably damaging Het
Myo3b A G 2: 69,925,637 (GRCm39) K35E possibly damaging Het
Nalcn A G 14: 123,515,650 (GRCm39) V1717A possibly damaging Het
Ncoa2 A G 1: 13,257,070 (GRCm39) V143A probably damaging Het
Ndufa9 A C 6: 126,809,520 (GRCm39) probably null Het
Or10ag60 G A 2: 87,438,319 (GRCm39) G196R possibly damaging Het
Or10ag60 G A 2: 87,437,755 (GRCm39) A8T possibly damaging Het
Or12e9 A G 2: 87,201,878 (GRCm39) M1V probably null Het
Or5k17 A G 16: 58,746,422 (GRCm39) S171P probably benign Het
Or5p55 T C 7: 107,567,104 (GRCm39) S167P probably benign Het
Or6c202 T C 10: 128,996,106 (GRCm39) Y249C probably damaging Het
Or7g28 A T 9: 19,272,438 (GRCm39) I71N probably damaging Het
Or9g8 G A 2: 85,607,668 (GRCm39) V247M probably damaging Het
Pde4b G T 4: 102,458,741 (GRCm39) A466S probably damaging Het
Pfkfb3 A T 2: 11,491,162 (GRCm39) probably benign Het
Ppp1r21 A G 17: 88,866,268 (GRCm39) K355E probably damaging Het
Psme4 T A 11: 30,741,095 (GRCm39) Y90* probably null Het
Rbms1 G A 2: 60,612,284 (GRCm39) L161F probably damaging Het
Rdh16f2 A G 10: 127,702,672 (GRCm39) D83G probably damaging Het
Sec16b C T 1: 157,392,361 (GRCm39) R910* probably null Het
Sema4c CTGGGCTT C 1: 36,591,381 (GRCm39) probably null Het
Spata31e5 T C 1: 28,816,636 (GRCm39) I465M possibly damaging Het
Stambp A G 6: 83,540,803 (GRCm39) probably null Het
Tcf21 T C 10: 22,695,558 (GRCm39) N82S probably damaging Het
Tlr2 A T 3: 83,745,030 (GRCm39) V351D probably damaging Het
Tmem39a G A 16: 38,411,326 (GRCm39) G359D probably damaging Het
Vmn2r17 C A 5: 109,577,342 (GRCm39) F464L probably benign Het
Vmn2r49 T A 7: 9,710,204 (GRCm39) T843S probably benign Het
Vmn2r7 T C 3: 64,598,088 (GRCm39) D823G probably null Het
Wrnip1 T A 13: 33,000,319 (GRCm39) L442Q probably damaging Het
Zbtb38 G T 9: 96,569,062 (GRCm39) S674Y probably damaging Het
Zfp639 T G 3: 32,574,585 (GRCm39) probably null 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
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
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 2016-06-15