Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00559:Enkd1'

10477

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enkd1

Ensembl Gene

ENSMUSG00000013155

Gene Name

enkurin domain containing 1

Synonyms

E130303B06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00559

Quality Score

Status

Chromosome

Chromosomal Location

106430283-106434842 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 106430974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000013302] [ENSMUST00000042608] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211852] [ENSMUST00000211870] [ENSMUST00000212061] [ENSMUST00000212352] [ENSMUST00000211888] [ENSMUST00000212430] [ENSMUST00000212642] [ENSMUST00000212650]

AlphaFold

Q7TSV9

Predicted Effect

probably benign
Transcript: ENSMUST00000013299

SMART Domains

Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

Domain	Start	End	E-Value	Type
low complexity region	220	236	N/A	INTRINSIC
Pfam:Enkurin	243	339	6.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000013302

SMART Domains

Protein: ENSMUSP00000013302
Gene: ENSMUSG00000013158

Domain	Start	End	E-Value	Type
Pfam:DUF4691	1	162	3.3e-71	PFAM
low complexity region	200	216	N/A	INTRINSIC
low complexity region	252	275	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042608

SMART Domains

Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000093195

SMART Domains

Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000211852

Predicted Effect

probably benign
Transcript: ENSMUST00000211870

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212634

Predicted Effect

probably benign
Transcript: ENSMUST00000212352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212687

Predicted Effect

probably benign
Transcript: ENSMUST00000211888

Predicted Effect

probably benign
Transcript: ENSMUST00000212430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212972

Predicted Effect

probably benign
Transcript: ENSMUST00000212642

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cers4	G	A	8: 4,571,216 (GRCm39)	D262N	probably benign	Het
Cyp2d26	G	A	15: 82,675,244 (GRCm39)	A370V	probably benign	Het
Dnah7c	T	C	1: 46,846,449 (GRCm39)	M4000T	possibly damaging	Het
H60b	A	G	10: 22,161,692 (GRCm39)	H60R	probably benign	Het
Hmgb4	T	C	4: 128,154,082 (GRCm39)	N162S	probably benign	Het
Htt	T	C	5: 35,006,448 (GRCm39)		probably benign	Het
Kbtbd6	A	G	14: 79,690,688 (GRCm39)	D461G	probably damaging	Het
Nell2	A	G	15: 95,425,166 (GRCm39)	L62P	possibly damaging	Het
Pi4k2b	T	A	5: 52,908,790 (GRCm39)	F205L	probably damaging	Het
Polr1b	G	T	2: 128,955,651 (GRCm39)	V521F	probably damaging	Het
Prn	G	A	2: 131,795,335 (GRCm39)	V152I	probably benign	Het
Ryr1	T	C	7: 28,711,667 (GRCm39)		probably benign	Het
Sema3c	G	T	5: 17,899,858 (GRCm39)	G450V	probably damaging	Het
Sema3d	G	A	5: 12,613,189 (GRCm39)	R422K	probably benign	Het
Snw1	T	C	12: 87,515,501 (GRCm39)	D16G	probably damaging	Het
Tas2r121	T	C	6: 132,677,484 (GRCm39)	I163V	probably benign	Het

Other mutations in Enkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1270:Enkd1	UTSW	8	106,430,533 (GRCm39)	missense	probably damaging	1.00
R1944:Enkd1	UTSW	8	106,434,208 (GRCm39)	missense	probably damaging	1.00
R3724:Enkd1	UTSW	8	106,430,557 (GRCm39)	missense	possibly damaging	0.72
R4957:Enkd1	UTSW	8	106,431,121 (GRCm39)	missense	probably benign	0.06
R7625:Enkd1	UTSW	8	106,431,265 (GRCm39)	critical splice donor site	probably null
R8388:Enkd1	UTSW	8	106,431,025 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06