Incidental Mutation 'IGL02234:Chchd1'
ID 285861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chchd1
Ensembl Gene ENSMUSG00000063787
Gene Name coiled-coil-helix-coiled-coil-helix domain containing 1
Synonyms 2400010G13Rik, 1110001O19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02234
Quality Score
Status
Chromosome 14
Chromosomal Location 20753095-20754493 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 20753478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000048016] [ENSMUST00000071215] [ENSMUST00000223840] [ENSMUST00000226072] [ENSMUST00000224633] [ENSMUST00000224751]
AlphaFold Q9CQA6
Predicted Effect probably benign
Transcript: ENSMUST00000022358
SMART Domains Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819

DomainStartEndE-ValueType
low complexity region 50 66 N/A INTRINSIC
low complexity region 89 102 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
low complexity region 578 612 N/A INTRINSIC
low complexity region 736 751 N/A INTRINSIC
low complexity region 1000 1015 N/A INTRINSIC
low complexity region 1120 1135 N/A INTRINSIC
low complexity region 1176 1211 N/A INTRINSIC
low complexity region 1259 1270 N/A INTRINSIC
low complexity region 1343 1355 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1491 1511 N/A INTRINSIC
low complexity region 1527 1542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048016
SMART Domains Protein: ENSMUSP00000040370
Gene: ENSMUSG00000039357

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Glyco_tran_10_N 70 178 2.6e-12 PFAM
Pfam:Glyco_transf_10 204 403 2.3e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000071215
SMART Domains Protein: ENSMUSP00000071202
Gene: ENSMUSG00000063787

DomainStartEndE-ValueType
Pfam:CHCH 45 79 2.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180987
Predicted Effect probably benign
Transcript: ENSMUST00000223840
Predicted Effect probably benign
Transcript: ENSMUST00000226072
Predicted Effect probably null
Transcript: ENSMUST00000224633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224165
Predicted Effect probably benign
Transcript: ENSMUST00000224751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224976
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,645,179 (GRCm39) T1010M possibly damaging Het
Atr A G 9: 95,829,303 (GRCm39) probably benign Het
Cdc42bpa A T 1: 179,978,756 (GRCm39) K1585* probably null Het
Cdh19 T C 1: 110,859,956 (GRCm39) D175G probably damaging Het
Celsr3 G T 9: 108,707,159 (GRCm39) R1214L probably benign Het
Col4a1 T C 8: 11,266,713 (GRCm39) K1165E probably damaging Het
Col6a4 A G 9: 105,890,631 (GRCm39) F1888L possibly damaging Het
Csmd3 C A 15: 47,811,512 (GRCm39) R1193L probably damaging Het
Cyp2d11 T A 15: 82,274,340 (GRCm39) H347L probably benign Het
Cyp4f13 A G 17: 33,143,748 (GRCm39) probably benign Het
Dop1b T C 16: 93,549,039 (GRCm39) V193A probably benign Het
Dus4l T C 12: 31,691,495 (GRCm39) probably benign Het
Epc1 G A 18: 6,439,938 (GRCm39) H79Y probably damaging Het
Gm12588 T A 11: 121,799,151 (GRCm39) Het
Gpr107 T C 2: 31,067,845 (GRCm39) Y222H probably damaging Het
Gzmn C T 14: 56,406,464 (GRCm39) probably null Het
Helq A G 5: 100,944,336 (GRCm39) I258T possibly damaging Het
Hsp90ab1 T C 17: 45,880,661 (GRCm39) K137R probably benign Het
Htr1f T A 16: 64,746,430 (GRCm39) R287S probably damaging Het
Il20ra A C 10: 19,625,018 (GRCm39) D99A probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mboat7 A G 7: 3,694,350 (GRCm39) Y34H probably damaging Het
Mid2 T C X: 139,664,418 (GRCm39) S646P probably damaging Het
Msh6 T C 17: 88,294,229 (GRCm39) S995P probably damaging Het
Mtmr10 A G 7: 63,949,350 (GRCm39) I108V probably benign Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Nlrp4f A G 13: 65,342,302 (GRCm39) F448L probably damaging Het
Odc1 C A 12: 17,598,621 (GRCm39) D220E possibly damaging Het
Or8k33 T C 2: 86,383,610 (GRCm39) N286S probably damaging Het
Pax7 A G 4: 139,555,901 (GRCm39) I189T probably damaging Het
Pcdh12 T A 18: 38,416,588 (GRCm39) H179L probably damaging Het
Pcdh15 A T 10: 74,467,694 (GRCm39) M1836L probably benign Het
Psmc5 T C 11: 106,153,836 (GRCm39) V390A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rpgrip1 A G 14: 52,368,766 (GRCm39) probably benign Het
Sema5a C T 15: 32,679,318 (GRCm39) R866C probably damaging Het
Stox2 A G 8: 47,646,647 (GRCm39) F271S probably damaging Het
Tpgs2 T C 18: 25,282,301 (GRCm39) probably null Het
Ttll8 T A 15: 88,798,252 (GRCm39) I828F possibly damaging Het
Vmn1r7 T C 6: 57,001,537 (GRCm39) Y241C probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Chchd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Chchd1 APN 14 20,753,245 (GRCm39) missense probably benign 0.01
R0047:Chchd1 UTSW 14 20,754,231 (GRCm39) missense possibly damaging 0.73
R0047:Chchd1 UTSW 14 20,754,231 (GRCm39) missense possibly damaging 0.73
R1575:Chchd1 UTSW 14 20,753,410 (GRCm39) missense probably damaging 1.00
R2853:Chchd1 UTSW 14 20,754,288 (GRCm39) missense probably benign
R5665:Chchd1 UTSW 14 20,753,178 (GRCm39) missense probably benign
R6747:Chchd1 UTSW 14 20,753,448 (GRCm39) missense probably benign 0.00
R7023:Chchd1 UTSW 14 20,753,310 (GRCm39) intron probably benign
R8518:Chchd1 UTSW 14 20,754,211 (GRCm39) missense probably benign 0.23
R8946:Chchd1 UTSW 14 20,753,385 (GRCm39) makesense probably null
Posted On 2015-04-16