Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02675:Asphd1'

303105

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asphd1

Ensembl Gene

ENSMUSG00000046378

Gene Name

aspartate beta-hydroxylase domain containing 1

Synonyms

A830007L07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL02675

Quality Score

Status

Chromosome

Chromosomal Location

126545159-126548754 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 126546006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032924] [ENSMUST00000052937] [ENSMUST00000106332] [ENSMUST00000106333] [ENSMUST00000106335] [ENSMUST00000106339] [ENSMUST00000106340] [ENSMUST00000146017]

AlphaFold

Q2TA57

Predicted Effect

probably benign
Transcript: ENSMUST00000032924

SMART Domains

Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	18	32	N/A	INTRINSIC
BTB	41	141	6.48e-15	SMART
low complexity region	276	314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052937

SMART Domains

Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378

Domain	Start	End	E-Value	Type
Pfam:Asp_Arg_Hydrox	1	92	5.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106332

SMART Domains

Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	70	86	N/A	INTRINSIC
low complexity region	93	108	N/A	INTRINSIC
CUB	113	226	8.25e-4	SMART
CCP	230	285	3.75e-15	SMART
CUB	289	399	1.3e-3	SMART
CCP	404	463	8.9e-8	SMART
CUB	467	578	3.45e-14	SMART
CCP	584	639	1.18e-12	SMART
CCP	645	704	1.31e-14	SMART
CCP	711	768	2.76e-13	SMART
transmembrane domain	798	820	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106333

SMART Domains

Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	115	146	N/A	INTRINSIC
low complexity region	153	168	N/A	INTRINSIC
CUB	173	286	8.25e-4	SMART
CCP	290	345	3.75e-15	SMART
CUB	349	459	1.3e-3	SMART
CCP	464	523	8.9e-8	SMART
CUB	527	638	3.45e-14	SMART
CCP	644	699	1.18e-12	SMART
CCP	705	764	1.31e-14	SMART
CCP	771	828	2.76e-13	SMART
transmembrane domain	858	880	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106335

SMART Domains

Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	115	146	N/A	INTRINSIC
low complexity region	153	168	N/A	INTRINSIC
CUB	173	286	8.25e-4	SMART
CCP	290	345	3.75e-15	SMART
CUB	349	459	1.3e-3	SMART
CCP	464	523	8.9e-8	SMART
CUB	527	638	3.45e-14	SMART
CCP	644	699	1.18e-12	SMART
CCP	705	764	1.31e-14	SMART
CCP	771	828	2.76e-13	SMART
transmembrane domain	845	867	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106339

SMART Domains

Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378

Domain	Start	End	E-Value	Type
Pfam:Asp_Arg_Hydrox	1	92	5.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106340

SMART Domains

Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378

Domain	Start	End	E-Value	Type
transmembrane domain	46	68	N/A	INTRINSIC
low complexity region	115	128	N/A	INTRINSIC
low complexity region	138	153	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC
Pfam:Asp_Arg_Hydrox	191	342	1.4e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139233

Predicted Effect

probably benign
Transcript: ENSMUST00000146017

SMART Domains

Protein: ENSMUSP00000115905
Gene: ENSMUSG00000030683

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	72	91	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano8	A	G	8: 71,936,184 (GRCm39)	I204T	probably damaging	Het
Anxa8	A	G	14: 33,815,371 (GRCm39)	D150G	probably damaging	Het
Arel1	T	C	12: 84,977,002 (GRCm39)	T438A	probably damaging	Het
Bcl2l12	A	T	7: 44,640,824 (GRCm39)		probably benign	Het
Cand1	A	G	10: 119,055,602 (GRCm39)	I87T	probably damaging	Het
Ccdc80	A	C	16: 44,936,695 (GRCm39)	T707P	probably damaging	Het
Ccn6	A	G	10: 39,027,236 (GRCm39)	V332A	possibly damaging	Het
Cdh9	T	A	15: 16,849,162 (GRCm39)		probably null	Het
Chrd	T	C	16: 20,558,699 (GRCm39)		probably benign	Het
Cpn1	T	C	19: 43,969,369 (GRCm39)	Q98R	probably benign	Het
D630045J12Rik	A	G	6: 38,172,420 (GRCm39)	S583P	possibly damaging	Het
Dnah7a	A	G	1: 53,543,183 (GRCm39)	I2329T	possibly damaging	Het
Egln3	A	G	12: 54,249,996 (GRCm39)	S118P	probably benign	Het
Gfra1	G	A	19: 58,441,787 (GRCm39)	T48I	probably damaging	Het
Hapln3	C	T	7: 78,767,596 (GRCm39)		probably null	Het
Heatr3	T	C	8: 88,871,185 (GRCm39)	F180L	possibly damaging	Het
Herc2	T	A	7: 55,813,849 (GRCm39)	S2661T	probably damaging	Het
Hook3	A	T	8: 26,551,462 (GRCm39)	L126Q	possibly damaging	Het
Hoxd8	T	G	2: 74,536,930 (GRCm39)	L214R	probably damaging	Het
Ifna1	T	G	4: 88,768,670 (GRCm39)	L116R	probably damaging	Het
Il31ra	T	A	13: 112,660,886 (GRCm39)	T487S	probably benign	Het
Kifc2	C	T	15: 76,547,179 (GRCm39)	R252W	probably damaging	Het
Meox2	A	G	12: 37,228,333 (GRCm39)	D290G	probably damaging	Het
Micu2	A	G	14: 58,182,834 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,673,130 (GRCm39)	T406A	possibly damaging	Het
Naip1	T	A	13: 100,545,626 (GRCm39)	M1301L	probably benign	Het
Pbrm1	T	C	14: 30,828,244 (GRCm39)	L1341P	possibly damaging	Het
Pcna-ps2	C	A	19: 9,261,323 (GRCm39)	A194E	probably benign	Het
Pdcd10	G	A	3: 75,434,901 (GRCm39)	T130I	probably damaging	Het
Pprc1	G	A	19: 46,051,946 (GRCm39)	G491D	probably damaging	Het
Prss57	A	G	10: 79,623,309 (GRCm39)	V46A	probably benign	Het
Ptcd3	A	G	6: 71,860,426 (GRCm39)		probably null	Het
Riok1	C	T	13: 38,234,219 (GRCm39)	P262S	probably damaging	Het
Rnf13	A	G	3: 57,686,817 (GRCm39)	N70S	probably benign	Het
Skint7	T	A	4: 111,839,178 (GRCm39)	D157E	probably benign	Het
Sri	T	C	5: 8,117,534 (GRCm39)	F191S	probably damaging	Het
Stat5b	T	C	11: 100,678,200 (GRCm39)	R638G	probably benign	Het
Suds3	C	T	5: 117,232,970 (GRCm39)		probably null	Het
Tmem19	A	G	10: 115,178,478 (GRCm39)	L281P	probably damaging	Het
Tmf1	A	G	6: 97,141,003 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,768,125 (GRCm39)		probably benign	Het
Usp28	T	C	9: 48,950,391 (GRCm39)	I940T	possibly damaging	Het
Zfp280d	T	A	9: 72,219,504 (GRCm39)	I227K	probably benign	Het
Zfp335	A	G	2: 164,752,609 (GRCm39)	V45A	probably benign	Het

Other mutations in Asphd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02388:Asphd1	APN	7	126,545,884 (GRCm39)	unclassified	probably benign
IGL03133:Asphd1	APN	7	126,547,452 (GRCm39)	missense	possibly damaging	0.85
IGL03197:Asphd1	APN	7	126,545,298 (GRCm39)	missense	probably damaging	1.00
BB002:Asphd1	UTSW	7	126,547,628 (GRCm39)	missense	probably damaging	0.99
BB012:Asphd1	UTSW	7	126,547,628 (GRCm39)	missense	probably damaging	0.99
R1572:Asphd1	UTSW	7	126,548,271 (GRCm39)	missense	probably benign
R4871:Asphd1	UTSW	7	126,547,747 (GRCm39)	missense	possibly damaging	0.84
R4952:Asphd1	UTSW	7	126,547,857 (GRCm39)	missense	probably benign	0.05
R5261:Asphd1	UTSW	7	126,545,287 (GRCm39)	missense	probably benign	0.12
R5504:Asphd1	UTSW	7	126,545,350 (GRCm39)	missense	possibly damaging	0.89
R6254:Asphd1	UTSW	7	126,548,040 (GRCm39)	missense	probably benign	0.00
R7068:Asphd1	UTSW	7	126,547,850 (GRCm39)	missense	probably benign	0.00
R7250:Asphd1	UTSW	7	126,545,942 (GRCm39)	missense	probably damaging	1.00
R7397:Asphd1	UTSW	7	126,548,001 (GRCm39)	missense	possibly damaging	0.91
R7925:Asphd1	UTSW	7	126,547,628 (GRCm39)	missense	probably damaging	0.99
R8306:Asphd1	UTSW	7	126,547,784 (GRCm39)	missense	probably damaging	1.00
R9202:Asphd1	UTSW	7	126,547,934 (GRCm39)	missense	probably damaging	0.99
R9622:Asphd1	UTSW	7	126,547,974 (GRCm39)	missense
Z1176:Asphd1	UTSW	7	126,547,808 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16