Mutagenetix > Incidental Mutation

Incidental Mutation 'R4952:Asphd1'

382061

Institutional Source

Beutler Lab

Gene Symbol

Asphd1

Ensembl Gene

ENSMUSG00000046378

Gene Name

aspartate beta-hydroxylase domain containing 1

Synonyms

MMRRC Submission

042549-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R4952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126945567-126949582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126948685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 149 (A149T)

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: A149T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378
AA Change: A149T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (93/94)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,739,197 (GRCm38)		probably null	Het
4933421I07Rik	T	C	7: 42,447,659 (GRCm38)	Y76C	possibly damaging	Het
Adcy4	C	T	14: 55,779,029 (GRCm38)	D322N	probably damaging	Het
Ak9	A	G	10: 41,420,589 (GRCm38)	M1444V	probably benign	Het
Amfr	A	G	8: 93,973,159 (GRCm38)		probably benign	Het
Ankef1	A	G	2: 136,550,529 (GRCm38)	E546G	probably damaging	Het
Ankrd24	A	G	10: 81,647,148 (GRCm38)	M977V	probably benign	Het
Ap3m1	A	T	14: 21,040,066 (GRCm38)	S5T	probably benign	Het
Aqr	C	A	2: 114,109,937 (GRCm38)	D1243Y	probably damaging	Het
Arhgef2	T	C	3: 88,642,462 (GRCm38)	L591P	probably damaging	Het
Arid4a	C	A	12: 71,023,525 (GRCm38)	T70K	possibly damaging	Het
Avpr1a	T	A	10: 122,449,754 (GRCm38)	M317K	probably damaging	Het
Birc2	T	C	9: 7,836,740 (GRCm38)	I109V	probably damaging	Het
Catsperd	A	G	17: 56,632,303 (GRCm38)	Y44C	probably damaging	Het
Ccdc114	A	C	7: 45,942,191 (GRCm38)	E293A	probably damaging	Het
Crygb	T	G	1: 65,082,109 (GRCm38)	S20R	probably benign	Het
Cyp3a25	T	C	5: 145,991,524 (GRCm38)	N237S	probably benign	Het
Dkk3	C	T	7: 112,118,351 (GRCm38)	A304T	probably benign	Het
Dst	T	C	1: 34,271,422 (GRCm38)	L4101S	probably damaging	Het
Dysf	A	G	6: 84,149,986 (GRCm38)	N1407S	possibly damaging	Het
Epb41	A	G	4: 132,000,270 (GRCm38)	V265A	probably damaging	Het
Faim2	C	T	15: 99,521,228 (GRCm38)	E75K	possibly damaging	Het
Fbn1	T	A	2: 125,317,534 (GRCm38)	D2208V	probably damaging	Het
Fbxo28	A	G	1: 182,326,385 (GRCm38)	S129P	probably damaging	Het
Fbxw14	T	A	9: 109,276,201 (GRCm38)	I299L	probably benign	Het
Fras1	C	T	5: 96,647,498 (GRCm38)	A1050V	probably benign	Het
Fyb	C	A	15: 6,638,811 (GRCm38)	T495K	probably damaging	Het
Ghdc	A	T	11: 100,769,151 (GRCm38)	W257R	probably damaging	Het
Gm10719	T	C	9: 3,018,962 (GRCm38)	L69S	probably benign	Het
Gm11492	A	G	11: 87,567,772 (GRCm38)	N324S	probably benign	Het
Gm12250	G	T	11: 58,188,384 (GRCm38)		noncoding transcript	Het
Gm4846	A	T	1: 166,483,934 (GRCm38)	F452Y	probably damaging	Het
Gm8773	T	A	5: 5,575,387 (GRCm38)	F28I	probably benign	Het
Gm884	T	C	11: 103,614,207 (GRCm38)	T2312A	possibly damaging	Het
Gpbp1	T	C	13: 111,440,750 (GRCm38)	D202G	probably damaging	Het
Gpd2	C	A	2: 57,307,013 (GRCm38)	Y193*	probably null	Het
Grhl2	G	T	15: 37,287,249 (GRCm38)	R229L	probably benign	Het
Gtf2a1	A	G	12: 91,575,749 (GRCm38)	F59L	possibly damaging	Het
Heatr1	G	T	13: 12,410,599 (GRCm38)	W640L	probably benign	Het
Kalrn	A	T	16: 34,357,415 (GRCm38)		probably null	Het
Keap1	T	C	9: 21,237,286 (GRCm38)	T142A	probably damaging	Het
Kpna2	G	A	11: 106,991,235 (GRCm38)	T255M	probably damaging	Het
Kpna3	A	G	14: 61,370,389 (GRCm38)	C456R	probably damaging	Het
Lama1	G	A	17: 67,767,566 (GRCm38)		probably null	Het
Mag	C	A	7: 30,909,156 (GRCm38)	E178*	probably null	Het
Map3k13	A	G	16: 21,911,019 (GRCm38)	I467V	probably benign	Het
Mga	A	G	2: 119,903,301 (GRCm38)	E210G	probably damaging	Het
Msi2	C	T	11: 88,366,784 (GRCm38)		probably null	Het
Naa16	A	T	14: 79,345,085 (GRCm38)	D521E	probably damaging	Het
Nav2	C	T	7: 49,304,540 (GRCm38)		probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nek5	T	A	8: 22,079,088 (GRCm38)	I573L	probably benign	Het
Nek5	T	C	8: 22,096,799 (GRCm38)	K332R	probably benign	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026 (GRCm38)		probably benign	Het
Olfr111	A	T	17: 37,530,750 (GRCm38)	T258S	possibly damaging	Het
Olfr263	G	A	13: 21,133,344 (GRCm38)	V190I	probably benign	Het
Olfr773	T	A	10: 129,186,597 (GRCm38)	T275S	probably benign	Het
Olfr875	T	A	9: 37,773,064 (GRCm38)	M135K	probably damaging	Het
Orai1	T	G	5: 123,029,250 (GRCm38)	V162G	probably damaging	Het
P2rx6	T	C	16: 17,567,444 (GRCm38)	S134P	probably damaging	Het
Pappa2	G	A	1: 158,857,136 (GRCm38)	T811I	probably null	Het
Pcdhga10	T	C	18: 37,747,160 (GRCm38)		probably benign	Het
Pex16	C	T	2: 92,379,060 (GRCm38)	R241*	probably null	Het
Plxnb1	T	C	9: 109,114,836 (GRCm38)	F1969L	probably damaging	Het
Postn	A	G	3: 54,390,315 (GRCm38)		probably benign	Het
Prdm15	A	T	16: 97,806,077 (GRCm38)	I752N	probably damaging	Het
Rasgef1c	A	T	11: 49,979,512 (GRCm38)	K468M	probably damaging	Het
Rbfox1	A	G	16: 7,277,088 (GRCm38)	S111G	probably benign	Het
Rbm28	T	C	6: 29,138,598 (GRCm38)	D405G	probably damaging	Het
Rell1	A	G	5: 63,939,667 (GRCm38)		probably benign	Het
Rfx3	A	G	19: 27,830,672 (GRCm38)	S224P	probably damaging	Het
Scarb2	A	T	5: 92,454,777 (GRCm38)	I260K	probably damaging	Het
Slc15a4	A	G	5: 127,603,837 (GRCm38)	F72L	probably damaging	Het
Spg7	C	A	8: 123,090,171 (GRCm38)	R534S	probably damaging	Het
Stoml2	T	C	4: 43,029,589 (GRCm38)	T164A	probably benign	Het
Syt11	C	T	3: 88,762,283 (GRCm38)	G101S	possibly damaging	Het
Traj12	A	G	14: 54,206,556 (GRCm38)		probably benign	Het
Traj7	A	T	14: 54,211,524 (GRCm38)		probably benign	Het
Tysnd1	C	T	10: 61,702,076 (GRCm38)	T175I	possibly damaging	Het
Usp48	T	G	4: 137,606,693 (GRCm38)	Y139*	probably null	Het
Vmn2r72	A	G	7: 85,751,109 (GRCm38)	L244P	probably benign	Het
Wasf1	C	A	10: 40,936,190 (GRCm38)	P325Q	unknown	Het
Zc3h18	T	A	8: 122,410,900 (GRCm38)		probably benign	Het
Zfp712	A	G	13: 67,040,841 (GRCm38)	S541P	possibly damaging	Het

Other mutations in Asphd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02388:Asphd1	APN	7	126,946,712 (GRCm38)	unclassified	probably benign
IGL02675:Asphd1	APN	7	126,946,834 (GRCm38)	unclassified	probably benign
IGL03133:Asphd1	APN	7	126,948,280 (GRCm38)	missense	possibly damaging	0.85
IGL03197:Asphd1	APN	7	126,946,126 (GRCm38)	missense	probably damaging	1.00
BB002:Asphd1	UTSW	7	126,948,456 (GRCm38)	missense	probably damaging	0.99
BB012:Asphd1	UTSW	7	126,948,456 (GRCm38)	missense	probably damaging	0.99
R1572:Asphd1	UTSW	7	126,949,099 (GRCm38)	missense	probably benign
R4871:Asphd1	UTSW	7	126,948,575 (GRCm38)	missense	possibly damaging	0.84
R5261:Asphd1	UTSW	7	126,946,115 (GRCm38)	missense	probably benign	0.12
R5504:Asphd1	UTSW	7	126,946,178 (GRCm38)	missense	possibly damaging	0.89
R6254:Asphd1	UTSW	7	126,948,868 (GRCm38)	missense	probably benign	0.00
R7068:Asphd1	UTSW	7	126,948,678 (GRCm38)	missense	probably benign	0.00
R7250:Asphd1	UTSW	7	126,946,770 (GRCm38)	missense	probably damaging	1.00
R7397:Asphd1	UTSW	7	126,948,829 (GRCm38)	missense	possibly damaging	0.91
R7925:Asphd1	UTSW	7	126,948,456 (GRCm38)	missense	probably damaging	0.99
R8306:Asphd1	UTSW	7	126,948,612 (GRCm38)	missense	probably damaging	1.00
R9202:Asphd1	UTSW	7	126,948,762 (GRCm38)	missense	probably damaging	0.99
R9622:Asphd1	UTSW	7	126,948,802 (GRCm38)	missense
Z1176:Asphd1	UTSW	7	126,948,636 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTTCCTGAGAAGTCCCAGC -3'
(R):5'- TGGGTTCCCAAGACATGCAG -3'

Sequencing Primer
(F):5'- TGAGAAGTCCCAGCTCACAG -3'
(R):5'- AAGACATGCAGGCCCTGG -3'

Posted On

2016-04-27