Incidental Mutation 'R5157:Ttc23l'
ID 396798
Institutional Source Beutler Lab
Gene Symbol Ttc23l
Ensembl Gene ENSMUSG00000022249
Gene Name tetratricopeptide repeat domain 23-like
Synonyms 4930401A09Rik
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5157 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 10500102-10558668 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10551550 bp (GRCm38)
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: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,686,066 (GRCm38) S2T probably benign Het
Abca3 C T 17: 24,408,122 (GRCm38) R1266C probably damaging Het
Adap2 T C 11: 80,156,946 (GRCm38) F76S probably damaging Het
Adgb T A 10: 10,398,966 (GRCm38) H747L probably damaging Het
Aox1 T A 1: 58,070,063 (GRCm38) V670D probably damaging Het
Ap4e1 A G 2: 127,061,695 (GRCm38) D839G probably benign Het
Arhgef11 T A 3: 87,728,510 (GRCm38) probably null Het
AY074887 T C 9: 54,950,818 (GRCm38) probably benign Het
Bicd1 C G 6: 149,520,414 (GRCm38) Q878E probably benign Het
Catspere1 A T 1: 177,879,782 (GRCm38) noncoding transcript Het
Cnmd T C 14: 79,656,686 (GRCm38) Q87R probably benign Het
Col24a1 G T 3: 145,345,951 (GRCm38) G661* probably null Het
Crtap G A 9: 114,384,792 (GRCm38) L232F probably damaging Het
Ctsq T C 13: 61,037,099 (GRCm38) T258A probably benign Het
Cyp2d26 T C 15: 82,790,989 (GRCm38) Q388R probably benign Het
Ddb1 A T 19: 10,622,364 (GRCm38) T646S probably benign Het
Dnah6 G T 6: 73,195,634 (GRCm38) S280R probably benign Het
Dzank1 T C 2: 144,483,412 (GRCm38) H545R probably damaging Het
Ehhadh T A 16: 21,766,511 (GRCm38) M207L probably benign Het
Elmo2 T A 2: 165,291,707 (GRCm38) probably benign Het
Golga3 G A 5: 110,202,671 (GRCm38) A731T probably benign Het
Igsf21 T C 4: 140,028,067 (GRCm38) T426A possibly damaging Het
Kcnf1 T C 12: 17,174,741 (GRCm38) E493G probably benign Het
Lmna A T 3: 88,484,107 (GRCm38) D364E probably damaging Het
Lsr T C 7: 30,966,040 (GRCm38) Y163C probably damaging Het
Map3k20 A T 2: 72,438,214 (GRCm38) T522S probably benign Het
Mpp5 T A 12: 78,820,815 (GRCm38) M324K possibly damaging Het
Mroh9 C A 1: 163,044,121 (GRCm38) A598S probably damaging Het
Msln T C 17: 25,752,983 (GRCm38) M87V probably benign Het
Olfr1155 T A 2: 87,942,888 (GRCm38) M247L probably benign Het
Olfr1197 T A 2: 88,729,548 (GRCm38) Q17L probably benign Het
Olfr292 A G 7: 86,695,232 (GRCm38) K259E probably benign Het
Olfr385 T C 11: 73,589,723 (GRCm38) N5S probably damaging Het
Plekhg5 T A 4: 152,107,865 (GRCm38) probably benign Het
Pprc1 G T 19: 46,064,758 (GRCm38) probably benign Het
Ptprm T A 17: 66,957,097 (GRCm38) K385I probably benign Het
Rfxap T A 3: 54,804,517 (GRCm38) N215I probably damaging Het
Slc16a7 A T 10: 125,233,464 (GRCm38) Y114* probably null Het
Smarcb1 G T 10: 75,911,794 (GRCm38) probably benign Het
Spef2 T A 15: 9,668,791 (GRCm38) R770* probably null Het
Stard9 A T 2: 120,697,861 (GRCm38) Y1533F probably benign Het
Tbcd A T 11: 121,610,027 (GRCm38) Y1142F probably benign Het
Uba7 G A 9: 107,980,047 (GRCm38) V703I probably benign Het
Upb1 T C 10: 75,412,804 (GRCm38) S53P possibly damaging Het
Zfp672 A G 11: 58,316,851 (GRCm38) S215P possibly damaging Het
Zfp978 T A 4: 147,390,980 (GRCm38) L328H probably damaging Het
Other mutations in Ttc23l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Ttc23l APN 15 10,530,689 (GRCm38) missense probably damaging 1.00
IGL01319:Ttc23l APN 15 10,509,406 (GRCm38) splice site probably benign
IGL01562:Ttc23l APN 15 10,551,390 (GRCm38) splice site probably benign
IGL01969:Ttc23l APN 15 10,551,434 (GRCm38) nonsense probably null
IGL03172:Ttc23l APN 15 10,537,566 (GRCm38) missense probably benign 0.06
R0042:Ttc23l UTSW 15 10,551,541 (GRCm38) missense probably damaging 1.00
R0042:Ttc23l UTSW 15 10,551,541 (GRCm38) missense probably damaging 1.00
R0335:Ttc23l UTSW 15 10,539,963 (GRCm38) missense probably benign 0.26
R0554:Ttc23l UTSW 15 10,530,657 (GRCm38) missense probably benign 0.12
R0609:Ttc23l UTSW 15 10,504,536 (GRCm38) missense probably benign
R0631:Ttc23l UTSW 15 10,539,980 (GRCm38) missense probably damaging 1.00
R1703:Ttc23l UTSW 15 10,523,658 (GRCm38) missense probably damaging 1.00
R2106:Ttc23l UTSW 15 10,547,256 (GRCm38) missense probably damaging 1.00
R2220:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2276:Ttc23l UTSW 15 10,523,592 (GRCm38) missense possibly damaging 0.92
R2277:Ttc23l UTSW 15 10,523,592 (GRCm38) missense possibly damaging 0.92
R2278:Ttc23l UTSW 15 10,523,592 (GRCm38) missense possibly damaging 0.92
R2279:Ttc23l UTSW 15 10,523,592 (GRCm38) missense possibly damaging 0.92
R2368:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2368:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R2420:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2420:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R2421:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2422:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2422:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R2830:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R2831:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2831:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R2979:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2980:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2980:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R2981:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2981:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R2982:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R2982:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R2983:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R2983:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R3176:Ttc23l UTSW 15 10,547,232 (GRCm38) missense possibly damaging 0.83
R3177:Ttc23l UTSW 15 10,547,232 (GRCm38) missense possibly damaging 0.83
R3276:Ttc23l UTSW 15 10,547,232 (GRCm38) missense possibly damaging 0.83
R3277:Ttc23l UTSW 15 10,547,232 (GRCm38) missense possibly damaging 0.83
R3722:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R3722:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R3743:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R3743:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R3767:Ttc23l UTSW 15 10,530,695 (GRCm38) missense possibly damaging 0.94
R3921:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R3921:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R3921:Ttc23l UTSW 15 10,537,563 (GRCm38) small insertion probably benign
R4091:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R4091:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R4119:Ttc23l UTSW 15 10,539,920 (GRCm38) missense probably damaging 1.00
R4120:Ttc23l UTSW 15 10,539,920 (GRCm38) missense probably damaging 1.00
R4373:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R4373:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R4375:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R4375:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R4376:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R4376:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R4377:Ttc23l UTSW 15 10,537,562 (GRCm38) small insertion probably benign
R4377:Ttc23l UTSW 15 10,537,566 (GRCm38) missense probably benign 0.06
R5002:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5106:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5107:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5109:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5156:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5160:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5161:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5259:Ttc23l UTSW 15 10,515,150 (GRCm38) missense probably damaging 0.99
R5307:Ttc23l UTSW 15 10,533,659 (GRCm38) missense probably damaging 1.00
R5728:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5756:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5772:Ttc23l UTSW 15 10,551,469 (GRCm38) missense probably benign 0.01
R5793:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5794:Ttc23l UTSW 15 10,551,550 (GRCm38) missense possibly damaging 0.95
R5847:Ttc23l UTSW 15 10,537,596 (GRCm38) missense probably benign 0.07
R6976:Ttc23l UTSW 15 10,537,580 (GRCm38) nonsense probably null
R7010:Ttc23l UTSW 15 10,515,138 (GRCm38) missense probably damaging 1.00
R7342:Ttc23l UTSW 15 10,551,497 (GRCm38) missense probably benign 0.01
R7404:Ttc23l UTSW 15 10,551,577 (GRCm38) missense probably damaging 0.98
R7453:Ttc23l UTSW 15 10,533,767 (GRCm38) missense probably damaging 1.00
R7584:Ttc23l UTSW 15 10,533,708 (GRCm38) missense probably damaging 1.00
R7599:Ttc23l UTSW 15 10,533,680 (GRCm38) missense possibly damaging 0.89
R8710:Ttc23l UTSW 15 10,539,935 (GRCm38) missense probably damaging 1.00
R8927:Ttc23l UTSW 15 10,530,634 (GRCm38) missense probably damaging 1.00
R8928:Ttc23l UTSW 15 10,530,634 (GRCm38) missense probably damaging 1.00
R9101:Ttc23l UTSW 15 10,537,575 (GRCm38) missense probably benign 0.16
R9746:Ttc23l UTSW 15 10,523,643 (GRCm38) missense probably benign 0.01
R9782:Ttc23l UTSW 15 10,530,681 (GRCm38) missense probably damaging 1.00
R9792:Ttc23l UTSW 15 10,537,645 (GRCm38) missense probably benign
R9793:Ttc23l UTSW 15 10,537,645 (GRCm38) missense probably benign
R9795:Ttc23l UTSW 15 10,537,645 (GRCm38) missense probably benign
Z1088:Ttc23l UTSW 15 10,533,667 (GRCm38) missense probably damaging 1.00
Z1177:Ttc23l UTSW 15 10,533,633 (GRCm38) 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