Incidental Mutation 'IGL02641:Ldoc1'
ID 301735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldoc1
Ensembl Gene ENSMUSG00000057615
Gene Name regulator of NFKB signaling
Synonyms Rtl7, Mart7, Mar7, LOC245441, Sirh7
Accession Numbers
Essential gene? Not available question?
Stock # IGL02641
Quality Score
Status
Chromosome X
Chromosomal Location 60753217-60754556 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 60753419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 35 (C35Y)
Ref Sequence ENSEMBL: ENSMUSP00000075366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075983]
AlphaFold Q7TPY9
Predicted Effect probably damaging
Transcript: ENSMUST00000075983
AA Change: C35Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075366
Gene: ENSMUSG00000057615
AA Change: C35Y

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Pfam:DUF4939 24 138 1e-54 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A T 4: 124,504,510 (GRCm39) M14K unknown Het
Arhgap24 T C 5: 103,040,386 (GRCm39) V441A probably damaging Het
Cdv3 G T 9: 103,241,223 (GRCm39) Q115K probably damaging Het
Clstn1 G T 4: 149,713,968 (GRCm39) G207C probably null Het
Col28a1 A T 6: 8,014,794 (GRCm39) Y870* probably null Het
Creb3 A C 4: 43,563,311 (GRCm39) H136P probably benign Het
Dcaf17 G A 2: 70,912,375 (GRCm39) C320Y probably damaging Het
Fbl T C 7: 27,874,471 (GRCm39) S66P probably damaging Het
Fgfrl1 C A 5: 108,853,731 (GRCm39) S279R probably damaging Het
Gdpgp1 C T 7: 79,888,796 (GRCm39) R276* probably null Het
Hcfc2 A G 10: 82,538,383 (GRCm39) Y140C probably damaging Het
Ighg3 A G 12: 113,323,818 (GRCm39) I190T unknown Het
Itgav T C 2: 83,598,689 (GRCm39) probably benign Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Lrp10 T A 14: 54,706,068 (GRCm39) C419* probably null Het
Micall2 T C 5: 139,705,094 (GRCm39) D80G probably damaging Het
Or5b21 T A 19: 12,839,566 (GRCm39) C142* probably null Het
Pde3b C T 7: 114,130,052 (GRCm39) T869I probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pkhd1 G A 1: 20,628,976 (GRCm39) T657I possibly damaging Het
Pnisr A G 4: 21,860,908 (GRCm39) N197S probably benign Het
Rpl21-ps4 G A 14: 11,227,661 (GRCm38) noncoding transcript Het
Rtn4rl1 A C 11: 75,156,650 (GRCm39) T361P probably damaging Het
Spaca9 C A 2: 28,585,963 (GRCm39) E34* probably null Het
Trip10 T A 17: 57,569,411 (GRCm39) D478E probably benign Het
Tsc22d2 A G 3: 58,323,576 (GRCm39) D156G probably damaging Het
Ufc1 T C 1: 171,117,764 (GRCm39) D50G probably damaging Het
Vmn1r202 T G 13: 22,686,274 (GRCm39) I48L probably benign Het
Vmn2r111 A T 17: 22,792,205 (GRCm39) V17E possibly damaging Het
Vps13a T A 19: 16,676,185 (GRCm39) M1263L probably benign Het
Other mutations in Ldoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01704:Ldoc1 APN X 60,753,537 (GRCm39) nonsense probably null
Posted On 2015-04-16