Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01340:Kxd1'

74833

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kxd1

Ensembl Gene

ENSMUSG00000055553

Gene Name

KxDL motif containing 1

Synonyms

2810422J05Rik, 0610030B01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01340

Quality Score

Status

Chromosome

Chromosomal Location

70966046-70975830 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 70968093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093456] [ENSMUST00000117580] [ENSMUST00000118850] [ENSMUST00000121623] [ENSMUST00000125184] [ENSMUST00000132867] [ENSMUST00000135446] [ENSMUST00000155677] [ENSMUST00000137610] [ENSMUST00000138260]

AlphaFold

Q80XH1

Predicted Effect

probably null
Transcript: ENSMUST00000093456

SMART Domains

Protein: ENSMUSP00000091165
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
Pfam:KxDL	12	99	1.9e-40	PFAM
low complexity region	115	124	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117580

SMART Domains

Protein: ENSMUSP00000112561
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
Pfam:KxDL	12	99	5.1e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000118850

SMART Domains

Protein: ENSMUSP00000113816
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
low complexity region	32	40	N/A	INTRINSIC
Pfam:KxDL	54	141	1.2e-39	PFAM
low complexity region	157	166	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121623

SMART Domains

Protein: ENSMUSP00000113804
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
Pfam:KxDL	14	99	3.3e-34	PFAM
UBQ	105	176	2.14e-36	SMART
Ribosomal_L40e	181	232	1.02e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125184

SMART Domains

Protein: ENSMUSP00000120096
Gene: ENSMUSG00000090137

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_L40e	77	128	4.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132867

Predicted Effect

probably benign
Transcript: ENSMUST00000135446

SMART Domains

Protein: ENSMUSP00000123562
Gene: ENSMUSG00000090137

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_L40e	77	128	4.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155677

SMART Domains

Protein: ENSMUSP00000123548
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
Pfam:KxDL	12	99	5.1e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137610

SMART Domains

Protein: ENSMUSP00000121539
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
Pfam:KxDL	12	99	1.3e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000138260

SMART Domains

Protein: ENSMUSP00000123438
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
Pfam:KxDL	12	99	9.2e-40	PFAM
UBQ	105	176	2.14e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138586

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced melanosomes in the choroid and retinal pigment epithelium and decreased platelet dense granule number. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,021,453 (GRCm39)	I1086L	probably benign	Het
Adam17	A	T	12: 21,380,058 (GRCm39)	C630*	probably null	Het
Adgrg5	T	C	8: 95,664,257 (GRCm39)	L289P	probably damaging	Het
Aplp1	G	A	7: 30,143,843 (GRCm39)	T64I	probably damaging	Het
Bdh1	T	A	16: 31,275,661 (GRCm39)	W261R	probably damaging	Het
Cadm2	A	T	16: 66,581,672 (GRCm39)	I202N	possibly damaging	Het
Cd209c	C	T	8: 3,995,892 (GRCm39)	R6H	probably benign	Het
Cfap221	T	A	1: 119,881,350 (GRCm39)	I371F	possibly damaging	Het
Cfap44	A	G	16: 44,224,493 (GRCm39)	Y67C	probably damaging	Het
Cilp	T	C	9: 65,183,256 (GRCm39)	S387P	probably damaging	Het
Cnot1	T	C	8: 96,487,165 (GRCm39)	D598G	probably damaging	Het
Col5a1	T	C	2: 27,850,463 (GRCm39)	L520P	unknown	Het
Cpvl	A	T	6: 53,873,436 (GRCm39)	Y433*	probably null	Het
Cxcl1	G	T	5: 91,039,434 (GRCm39)	C59F	probably damaging	Het
Cyth3	T	A	5: 143,670,190 (GRCm39)	L33*	probably null	Het
Dnah2	T	C	11: 69,384,010 (GRCm39)	K1069E	probably damaging	Het
Drosha	T	A	15: 12,834,109 (GRCm39)		probably benign	Het
Fam83h	T	A	15: 75,875,885 (GRCm39)	D484V	probably damaging	Het
Igsf3	C	A	3: 101,346,995 (GRCm39)	Y663*	probably null	Het
Kmt5c	C	T	7: 4,745,140 (GRCm39)	R44*	probably null	Het
Lars1	A	G	18: 42,335,642 (GRCm39)	V1158A	probably benign	Het
Lmf2	A	G	15: 89,237,075 (GRCm39)	F413S	probably damaging	Het
Mc4r	C	T	18: 66,992,229 (GRCm39)	A295T	probably benign	Het
Mrc1	T	C	2: 14,314,895 (GRCm39)		probably null	Het
Mtmr7	T	C	8: 41,050,465 (GRCm39)	Y110C	probably damaging	Het
Myd88	A	C	9: 119,166,418 (GRCm39)		probably benign	Het
Ndc1	T	C	4: 107,231,344 (GRCm39)	V95A	probably damaging	Het
Ntrk1	T	A	3: 87,696,021 (GRCm39)	E163V	possibly damaging	Het
Or4p8	T	C	2: 88,727,321 (GRCm39)	T207A	probably damaging	Het
Pappa	A	T	4: 65,242,109 (GRCm39)	D1491V	possibly damaging	Het
Phc3	T	A	3: 30,984,033 (GRCm39)	I673F	possibly damaging	Het
Pkhd1	A	T	1: 20,593,201 (GRCm39)	N1637K	probably benign	Het
Relb	T	C	7: 19,350,298 (GRCm39)	I218V	probably benign	Het
Rgma	T	C	7: 73,067,078 (GRCm39)	F111S	probably damaging	Het
Slco1a6	A	T	6: 142,055,109 (GRCm39)	N278K	possibly damaging	Het
Slfn9	A	T	11: 82,872,577 (GRCm39)	F720I	probably benign	Het
Snd1	T	A	6: 28,883,368 (GRCm39)	V741E	probably benign	Het
Snx6	C	T	12: 54,801,094 (GRCm39)	R185Q	probably damaging	Het
Spata31g1	A	C	4: 42,971,984 (GRCm39)	E439A	possibly damaging	Het
Telo2	G	A	17: 25,319,103 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,881,514 (GRCm39)	S278P	probably benign	Het
Xab2	A	T	8: 3,664,381 (GRCm39)	D277E	probably damaging	Het
Zbbx	T	C	3: 75,012,957 (GRCm39)	E158G	possibly damaging	Het

Other mutations in Kxd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02331:Kxd1	APN	8	70,968,090 (GRCm39)	missense	probably benign	0.10
IGL03268:Kxd1	APN	8	70,961,136 (GRCm39)	missense	probably damaging	1.00
R3499:Kxd1	UTSW	8	70,966,632 (GRCm39)	splice site	probably null
R6101:Kxd1	UTSW	8	70,972,589 (GRCm39)	missense	probably benign	0.15
R6105:Kxd1	UTSW	8	70,972,589 (GRCm39)	missense	probably benign	0.15
R6302:Kxd1	UTSW	8	70,972,713 (GRCm39)	critical splice acceptor site	probably null
R6925:Kxd1	UTSW	8	70,975,928 (GRCm39)	start codon destroyed	probably null
R7154:Kxd1	UTSW	8	70,968,084 (GRCm39)	missense	probably damaging	1.00
R8032:Kxd1	UTSW	8	70,966,791 (GRCm39)	missense	possibly damaging	0.69

Posted On

2013-10-07