Incidental Mutation 'R3003:Acd'
ID 257365
Institutional Source Beutler Lab
Gene Symbol Acd
Ensembl Gene ENSMUSG00000038000
Gene Name adrenocortical dysplasia
Synonyms
MMRRC Submission 040532-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.443) question?
Stock # R3003 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106424789-106427748 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 106426913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000042608] [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000212642] [ENSMUST00000212650] [ENSMUST00000212061] [ENSMUST00000212352] [ENSMUST00000212430] [ENSMUST00000211888] [ENSMUST00000213019]
AlphaFold Q5EE38
Predicted Effect probably benign
Transcript: ENSMUST00000013299
SMART Domains Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

DomainStartEndE-ValueType
low complexity region 220 236 N/A INTRINSIC
Pfam:Enkurin 243 339 6.3e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000042608
SMART Domains Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

DomainStartEndE-ValueType
Pfam:TPP1 11 118 2.4e-23 PFAM
low complexity region 259 272 N/A INTRINSIC
low complexity region 296 319 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000042608
SMART Domains Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

DomainStartEndE-ValueType
Pfam:TPP1 11 118 2.4e-23 PFAM
low complexity region 259 272 N/A INTRINSIC
low complexity region 296 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000062574
SMART Domains Protein: ENSMUSP00000052322
Gene: ENSMUSG00000050357

DomainStartEndE-ValueType
Pfam:CARMIL_C 149 442 3.3e-62 PFAM
low complexity region 467 484 N/A INTRINSIC
low complexity region 631 659 N/A INTRINSIC
low complexity region 696 727 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093195
SMART Domains Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699

DomainStartEndE-ValueType
PB1 15 95 2.81e-15 SMART
PDZ 167 250 1.38e-12 SMART
low complexity region 263 286 N/A INTRINSIC
low complexity region 309 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098444
SMART Domains Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699

DomainStartEndE-ValueType
PB1 4 79 1.28e-9 SMART
PDZ 151 234 1.38e-12 SMART
low complexity region 247 270 N/A INTRINSIC
low complexity region 293 307 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211870
Predicted Effect probably benign
Transcript: ENSMUST00000212642
Predicted Effect probably benign
Transcript: ENSMUST00000212650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212634
Predicted Effect probably benign
Transcript: ENSMUST00000212061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212162
Predicted Effect probably benign
Transcript: ENSMUST00000212352
Predicted Effect probably benign
Transcript: ENSMUST00000212430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212643
Predicted Effect probably benign
Transcript: ENSMUST00000211888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212687
Predicted Effect probably benign
Transcript: ENSMUST00000213019
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce skeletal, coat, vibrissae and skin pigmentation defects. Kidney and adrenal abnormalities cause a shortened lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,254,393 (GRCm39) V568A probably damaging Het
Acly T C 11: 100,395,053 (GRCm39) K469E possibly damaging Het
Adh6b G T 3: 138,063,532 (GRCm39) L248F possibly damaging Het
Atg9b G T 5: 24,596,217 (GRCm39) D192E probably damaging Het
Ccdc180 A G 4: 45,899,988 (GRCm39) D182G probably benign Het
Cep112 A G 11: 108,331,329 (GRCm39) E178G probably damaging Het
Clptm1l C T 13: 73,765,875 (GRCm39) T471I possibly damaging Het
Csmd1 A G 8: 16,246,184 (GRCm39) F1072L probably damaging Het
Eprs1 T C 1: 185,156,588 (GRCm39) probably null Het
Il27ra G T 8: 84,758,660 (GRCm39) S499* probably null Het
Klk1b11 T C 7: 43,426,419 (GRCm39) I51T probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Mprip A G 11: 59,618,381 (GRCm39) T91A possibly damaging Het
Pfpl T C 19: 12,407,690 (GRCm39) I647T possibly damaging Het
Plxnc1 A T 10: 94,629,080 (GRCm39) F1565I probably damaging Het
Prr5 G T 15: 84,656,031 (GRCm39) C344F probably damaging Het
Rnf17 T C 14: 56,738,004 (GRCm39) W1262R probably damaging Het
Rptor G A 11: 119,763,197 (GRCm39) R927Q possibly damaging Het
Slitrk5 A G 14: 111,917,014 (GRCm39) K213E probably damaging Het
Smarcd1 C A 15: 99,610,065 (GRCm39) P432Q probably damaging Het
Stat4 A G 1: 52,142,145 (GRCm39) D664G probably damaging Het
Suz12 T A 11: 79,910,587 (GRCm39) W313R probably damaging Het
Sycp2 T C 2: 177,999,916 (GRCm39) Y1020C probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem81 A G 1: 132,435,752 (GRCm39) N186S probably benign Het
Tut4 G A 4: 108,370,125 (GRCm39) E714K probably damaging Het
Vmn2r98 A G 17: 19,286,125 (GRCm39) M208V probably benign Het
Other mutations in Acd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Acd APN 8 106,425,086 (GRCm39) missense probably damaging 1.00
IGL02322:Acd APN 8 106,425,268 (GRCm39) missense probably benign 0.04
R0613:Acd UTSW 8 106,427,200 (GRCm39) splice site probably null
R1750:Acd UTSW 8 106,425,524 (GRCm39) missense possibly damaging 0.93
R1824:Acd UTSW 8 106,427,122 (GRCm39) missense probably damaging 1.00
R1870:Acd UTSW 8 106,425,039 (GRCm39) critical splice donor site probably null
R2888:Acd UTSW 8 106,425,470 (GRCm39) missense probably benign 0.08
R2945:Acd UTSW 8 106,426,927 (GRCm39) nonsense probably null
R3001:Acd UTSW 8 106,426,913 (GRCm39) critical splice donor site probably null
R3002:Acd UTSW 8 106,426,913 (GRCm39) critical splice donor site probably null
R4795:Acd UTSW 8 106,427,647 (GRCm39) missense possibly damaging 0.92
R4806:Acd UTSW 8 106,424,922 (GRCm39) missense possibly damaging 0.75
R6111:Acd UTSW 8 106,424,919 (GRCm39) missense probably benign 0.04
R6236:Acd UTSW 8 106,427,127 (GRCm39) missense probably benign 0.01
R7096:Acd UTSW 8 106,425,121 (GRCm39) missense possibly damaging 0.52
R8677:Acd UTSW 8 106,427,576 (GRCm39) missense probably damaging 1.00
R8995:Acd UTSW 8 106,427,131 (GRCm39) missense probably damaging 1.00
R9272:Acd UTSW 8 106,424,952 (GRCm39) missense probably damaging 1.00
R9307:Acd UTSW 8 106,425,514 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TCCTGATTGCTGGGAGAAAG -3'
(R):5'- ACCATGCGGTGAGTGGTAAG -3'

Sequencing Primer
(F):5'- TCTCACCTGAAGATCTATGCCAAGTG -3'
(R):5'- TAAGGCTCACTTGGGCGG -3'
Posted On 2015-01-11