Mutagenetix > Incidental Mutation

Incidental Mutation 'R7068:Asphd1'

548687

Institutional Source

Beutler Lab

Gene Symbol

Asphd1

Ensembl Gene

ENSMUSG00000046378

Gene Name

aspartate beta-hydroxylase domain containing 1

Synonyms

A830007L07Rik

MMRRC Submission

045164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R7068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126545159-126548754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126547850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 151 (V151A)

Ref Sequence

ENSEMBL: ENSMUSP00000101947 (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
AA Change: V151A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378
AA Change: V151A

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

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,221,803 (GRCm39)	H24R	probably benign	Het
Ago2	A	T	15: 73,018,299 (GRCm39)	F46L	probably damaging	Het
Amd1	A	G	10: 40,166,508 (GRCm39)	F123L	probably benign	Het
Arhgef10	T	C	8: 15,008,639 (GRCm39)	F546L	probably damaging	Het
Asic2	G	A	11: 81,043,081 (GRCm39)	H71Y	probably benign	Het
Best3	T	C	10: 116,824,543 (GRCm39)	V3A	probably damaging	Het
C4b	A	G	17: 34,952,451 (GRCm39)	L1196P	probably damaging	Het
Cd22	A	G	7: 30,577,504 (GRCm39)	V3A	probably benign	Het
Cdkl3	T	C	11: 51,902,154 (GRCm39)		probably null	Het
Clcnka	A	T	4: 141,114,421 (GRCm39)	V631E	probably damaging	Het
Cmya5	A	G	13: 93,229,205 (GRCm39)	V1961A	possibly damaging	Het
Dnah14	A	G	1: 181,597,355 (GRCm39)	E3559G	probably benign	Het
Emsy	A	T	7: 98,259,968 (GRCm39)	D39E	probably benign	Het
Fbxl16	G	T	17: 26,038,485 (GRCm39)	V477F	possibly damaging	Het
Flt1	A	T	5: 147,610,444 (GRCm39)	I393N	probably damaging	Het
Gabra4	A	T	5: 71,729,402 (GRCm39)	N433K	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Ghsr	T	A	3: 27,425,986 (GRCm39)	V14D	probably benign	Het
Glb1l	A	G	1: 75,179,381 (GRCm39)	Y183H	probably damaging	Het
Hycc1	A	G	5: 24,169,793 (GRCm39)	S519P	possibly damaging	Het
Ighv3-4	T	C	12: 114,217,274 (GRCm39)	T106A	probably damaging	Het
Ik	T	G	18: 36,888,518 (GRCm39)	F439V	possibly damaging	Het
Itih5	T	C	2: 10,254,115 (GRCm39)	S789P	probably damaging	Het
Kcnj8	T	C	6: 142,511,965 (GRCm39)	D214G	probably damaging	Het
Kdm5a	C	A	6: 120,407,176 (GRCm39)	H1464N	probably benign	Het
Klb	A	T	5: 65,536,683 (GRCm39)	Y671F	probably damaging	Het
Kremen2	C	A	17: 23,960,859 (GRCm39)	R421L	possibly damaging	Het
Mroh9	T	A	1: 162,866,750 (GRCm39)	D662V	probably damaging	Het
Mtmr12	T	G	15: 12,257,756 (GRCm39)	M278R	probably null	Het
Ndufa8	T	C	2: 35,934,447 (GRCm39)	M44V	possibly damaging	Het
Nedd4l	A	T	18: 65,338,722 (GRCm39)	R695S	probably damaging	Het
Nuf2	G	A	1: 169,349,988 (GRCm39)	P97S	probably damaging	Het
Or14c46	A	C	7: 85,918,745 (GRCm39)	L84R	probably damaging	Het
Or2ah1	T	C	2: 85,653,396 (GRCm39)	V27A	probably benign	Het
Or5ac24	T	C	16: 59,165,567 (GRCm39)	T166A	possibly damaging	Het
P4ha2	A	G	11: 54,001,820 (GRCm39)	T33A	probably benign	Het
Parp1	A	G	1: 180,416,233 (GRCm39)	H544R	probably damaging	Het
Plec	A	G	15: 76,061,969 (GRCm39)	L2678P	probably damaging	Het
Rad1	T	A	15: 10,490,379 (GRCm39)	Y85*	probably null	Het
Sema6d	A	G	2: 124,499,741 (GRCm39)	I309V	probably benign	Het
Skint2	T	C	4: 112,481,548 (GRCm39)	V137A	probably damaging	Het
Slc23a3	T	C	1: 75,109,877 (GRCm39)	N130S	probably benign	Het
Slc35f1	T	C	10: 52,938,596 (GRCm39)	F176S	probably damaging	Het
Slc44a2	T	A	9: 21,232,144 (GRCm39)	Y10N	probably benign	Het
Smarcc1	A	G	9: 110,014,952 (GRCm39)	T506A	probably damaging	Het
Smchd1	A	T	17: 71,694,087 (GRCm39)	S1219R	probably benign	Het
Smco1	A	G	16: 32,092,929 (GRCm39)	N200S	probably benign	Het
Srcap	A	G	7: 127,141,115 (GRCm39)	T1571A	probably benign	Het
Strip2	C	T	6: 29,932,207 (GRCm39)	T459I	probably benign	Het
Tarbp1	C	T	8: 127,153,773 (GRCm39)	A1560T	probably damaging	Het
Tcl1b1	T	A	12: 105,125,952 (GRCm39)		probably benign	Het
Tdrd5	T	C	1: 156,111,841 (GRCm39)	E436G	probably damaging	Het
Trim31	T	A	17: 37,209,408 (GRCm39)	C55S	probably damaging	Het
Tsr1	G	T	11: 74,794,745 (GRCm39)	E467*	probably null	Het
Tulp4	T	A	17: 6,235,564 (GRCm39)	D178E	probably damaging	Het
Vmn1r30	A	G	6: 58,411,995 (GRCm39)	V279A	possibly damaging	Het
Vmn2r98	A	G	17: 19,285,575 (GRCm39)	R132G	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
IGL02675:Asphd1	APN	7	126,546,006 (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
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

Predicted Primers

PCR Primer
(F):5'- GCACTCATGAAGCTCCGTAG -3'
(R):5'- ATGTATGTTCTCAGACTGGCC -3'

Sequencing Primer
(F):5'- TGCTTGGTACAGCAGGAGC -3'
(R):5'- TATGTTCTCAGACTGGCCCAAGG -3'

Posted On

2019-05-13