Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01704:Ldoc1'

104530

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 #

IGL01704

Quality Score

Status

Chromosome

Chromosomal Location

60753217-60754556 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 60753537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 74 (Y74*)

Ref Sequence

ENSEMBL: ENSMUSP00000075366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075983]

AlphaFold

Q7TPY9

Predicted Effect

probably null
Transcript: ENSMUST00000075983
AA Change: Y74*

SMART Domains

Protein: ENSMUSP00000075366
Gene: ENSMUSG00000057615
AA Change: Y74*

Domain	Start	End	E-Value	Type
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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brsk1	A	G	7: 4,707,260 (GRCm39)	E271G	probably benign	Het
Card9	A	G	2: 26,246,874 (GRCm39)	F325L	probably benign	Het
Cct8l1	T	A	5: 25,722,097 (GRCm39)	S271T	probably benign	Het
Clca3a2	A	G	3: 144,800,979 (GRCm39)	Y125H	probably benign	Het
Csn1s2b	T	G	5: 87,960,970 (GRCm39)	S25R	probably damaging	Het
Dnmt1	C	T	9: 20,821,476 (GRCm39)	V1227I	probably damaging	Het
Fpr1	G	A	17: 18,097,234 (GRCm39)	R252W	possibly damaging	Het
Gm15155	T	A	X: 155,086,252 (GRCm39)	D69E	unknown	Het
Hltf	T	C	3: 20,137,910 (GRCm39)		probably benign	Het
Hnrnpr	A	G	4: 136,056,692 (GRCm39)	I130V	possibly damaging	Het
Klra9	G	T	6: 130,166,744 (GRCm39)	S40*	probably null	Het
Lias	G	T	5: 65,562,673 (GRCm39)	V318F	probably damaging	Het
Mtss1	A	G	15: 58,926,932 (GRCm39)	V48A	possibly damaging	Het
Myo9b	C	T	8: 71,812,286 (GRCm39)	P2019L	probably damaging	Het
Ogdhl	T	C	14: 32,059,588 (GRCm39)		probably benign	Het
Or5b97	T	C	19: 12,879,103 (GRCm39)	I14V	probably benign	Het
Parp4	A	G	14: 56,839,783 (GRCm39)	D497G	probably damaging	Het
Pcnx3	T	C	19: 5,717,504 (GRCm39)	D1535G	probably damaging	Het
Pcx	G	T	19: 4,671,088 (GRCm39)	K1103N	probably damaging	Het
Pdgfd	G	A	9: 6,337,327 (GRCm39)	V220M	probably damaging	Het
Pola2	A	G	19: 5,992,047 (GRCm39)	S542P	probably damaging	Het
Ppip5k1	G	A	2: 121,142,555 (GRCm39)	T1278M	possibly damaging	Het
Pramel11	C	T	4: 143,622,201 (GRCm39)	D385N	probably benign	Het
Ralgapb	T	C	2: 158,262,795 (GRCm39)	V11A	possibly damaging	Het
Rhox2f	T	A	X: 36,753,634 (GRCm39)	V124E	probably benign	Het
Rnf213	T	C	11: 119,340,702 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,041,913 (GRCm39)		probably benign	Het
Smco1	T	C	16: 32,092,704 (GRCm39)	V125A	probably benign	Het
Tg	A	T	15: 66,543,200 (GRCm39)	Q38L	probably damaging	Het
Trpv5	A	T	6: 41,630,192 (GRCm39)	S633T	possibly damaging	Het
Vmn2r97	T	C	17: 19,168,073 (GRCm39)	F776L	probably damaging	Het
Zranb3	A	C	1: 127,895,676 (GRCm39)	V724G	possibly damaging	Het

Other mutations in Ldoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02641:Ldoc1	APN	X	60,753,419 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21