Mutagenetix > Incidental Mutation

Incidental Mutation 'R3854:Aspdh'

276060

Institutional Source

Beutler Lab

Gene Symbol

Aspdh

Ensembl Gene

ENSMUSG00000038704

Gene Name

aspartate dehydrogenase domain containing

Synonyms

0610012D14Rik

MMRRC Submission

041605-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R3854 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

44114859-44117175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44115613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 5 (V5A)

Ref Sequence

ENSEMBL: ENSMUSP00000146347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035844] [ENSMUST00000035929] [ENSMUST00000058667] [ENSMUST00000117324] [ENSMUST00000118493] [ENSMUST00000118628] [ENSMUST00000120852] [ENSMUST00000135624] [ENSMUST00000146128] [ENSMUST00000134398] [ENSMUST00000136609] [ENSMUST00000121922] [ENSMUST00000136679] [ENSMUST00000127790] [ENSMUST00000208117] [ENSMUST00000206887] [ENSMUST00000152902] [ENSMUST00000156093] [ENSMUST00000156957]

AlphaFold

Q9DCQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000035844

SMART Domains

Protein: ENSMUSP00000048415
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035929
AA Change: V55A

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704
AA Change: V55A

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	17	128	3.8e-24	PFAM
Pfam:DUF108	174	265	2.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058667

SMART Domains

Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
LRR	208	229	1.62e2	SMART
LRR_TYP	230	253	3.63e-3	SMART
LRR	254	277	9.75e0	SMART
LRR_TYP	278	301	5.29e-5	SMART
LRRCT	313	364	1.92e-3	SMART
IGc2	378	445	1.45e-9	SMART
low complexity region	462	482	N/A	INTRINSIC
low complexity region	528	547	N/A	INTRINSIC
transmembrane domain	573	595	N/A	INTRINSIC
low complexity region	596	607	N/A	INTRINSIC
low complexity region	624	644	N/A	INTRINSIC
low complexity region	673	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117324

SMART Domains

Protein: ENSMUSP00000113313
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118493

SMART Domains

Protein: ENSMUSP00000113226
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118628

SMART Domains

Protein: ENSMUSP00000113172
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120852

SMART Domains

Protein: ENSMUSP00000114105
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135624
AA Change: V5A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146128
AA Change: V37A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704
AA Change: V37A

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	5	110	1e-19	PFAM
Pfam:DUF108	153	252	7.5e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133801

Predicted Effect

probably benign
Transcript: ENSMUST00000139097

Predicted Effect

probably benign
Transcript: ENSMUST00000134398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149341

Predicted Effect

probably benign
Transcript: ENSMUST00000136609

SMART Domains

Protein: ENSMUSP00000123205
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	97	7.71e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121922

SMART Domains

Protein: ENSMUSP00000112796
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	134	7e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136679

SMART Domains

Protein: ENSMUSP00000114900
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Pfam:Josephin	18	61	3.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127790

SMART Domains

Protein: ENSMUSP00000123389
Gene: ENSMUSG00000047085

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
Blast:LRR	183	207	2e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155659

Predicted Effect

probably benign
Transcript: ENSMUST00000208117

Predicted Effect

probably benign
Transcript: ENSMUST00000206887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184821

Predicted Effect

probably benign
Transcript: ENSMUST00000152902

Predicted Effect

probably benign
Transcript: ENSMUST00000156093

SMART Domains

Protein: ENSMUSP00000119374
Gene: ENSMUSG00000047085

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
Blast:LRR	183	207	2e-6	BLAST
LRR	208	230	3.65e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156957

SMART Domains

Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:DUF108	52	151	2.6e-24	PFAM

Meta Mutation Damage Score

0.1454

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.2%
20x: 94.2%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	C	2: 58,352,946 (GRCm39)	K338R	probably damaging	Het
Adar	C	T	3: 89,643,565 (GRCm39)	P482L	probably damaging	Het
Adh5	A	G	3: 138,156,776 (GRCm39)	D154G	probably benign	Het
Apoa1	A	G	9: 46,141,521 (GRCm39)	S206G	probably benign	Het
Bend3	AAGGACCA	AA	10: 43,386,713 (GRCm39)		probably benign	Het
C2cd3	A	T	7: 100,103,808 (GRCm39)		probably null	Het
Ccdc87	A	G	19: 4,889,546 (GRCm39)	I13V	probably benign	Het
Cd163	A	T	6: 124,288,525 (GRCm39)	N319Y	probably damaging	Het
Cdc42bpa	A	G	1: 179,983,543 (GRCm39)		probably benign	Het
Ceacam2	T	C	7: 25,238,227 (GRCm39)	S66G	probably benign	Het
Cep131	G	A	11: 119,958,011 (GRCm39)	R772*	probably null	Het
Clhc1	T	C	11: 29,521,789 (GRCm39)	C441R	probably damaging	Het
Clstn2	G	A	9: 97,345,648 (GRCm39)	Q567*	probably null	Het
Cops7a	C	T	6: 124,936,795 (GRCm39)	R252H	probably damaging	Het
Daam2	T	C	17: 49,765,624 (GRCm39)	N1093S	probably benign	Het
Dnajc16	G	A	4: 141,490,964 (GRCm39)	R729*	probably null	Het
Eml6	C	T	11: 29,699,905 (GRCm39)	A1744T	possibly damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fbll1	T	A	11: 35,688,526 (GRCm39)	T246S	probably benign	Het
Fbln2	A	T	6: 91,243,353 (GRCm39)	T910S	probably damaging	Het
Fcna	C	T	2: 25,517,784 (GRCm39)	G22D	possibly damaging	Het
Gadl1	G	T	9: 115,835,732 (GRCm39)	E387*	probably null	Het
Gm5592	G	A	7: 40,807,259 (GRCm39)		probably benign	Het
Gpr82	A	T	X: 13,531,577 (GRCm39)	T42S	probably benign	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Lbr	G	A	1: 181,659,280 (GRCm39)	T167I	probably benign	Het
Mdh1	C	T	11: 21,509,281 (GRCm39)	V234I	probably benign	Het
Muc2	A	G	7: 141,308,081 (GRCm39)	H420R	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nrcam	G	T	12: 44,622,667 (GRCm39)	A938S	probably benign	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Or10z1	T	A	1: 174,077,716 (GRCm39)	Y259F	probably damaging	Het
Or1p1c	A	T	11: 74,161,105 (GRCm39)	K297*	probably null	Het
Or51r1	T	G	7: 102,228,227 (GRCm39)	L175R	probably damaging	Het
Pgap3	T	C	11: 98,281,638 (GRCm39)	T187A	possibly damaging	Het
Pus10	T	C	11: 23,653,003 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,371,765 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,752,240 (GRCm39)		probably benign	Het
Serpinb9e	A	G	13: 33,439,137 (GRCm39)	I188V	probably benign	Het
Shcbp1l	A	T	1: 153,328,190 (GRCm39)	I634F	probably damaging	Het
Slc6a16	T	A	7: 44,917,596 (GRCm39)	C485S	probably damaging	Het
Vmn1r215	A	C	13: 23,260,058 (GRCm39)	M33L	probably benign	Het
Vps26c	A	G	16: 94,311,665 (GRCm39)	F95L	probably benign	Het

Other mutations in Aspdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Aspdh	APN	7	44,115,983 (GRCm39)	splice site	probably null
IGL02967:Aspdh	APN	7	44,114,963 (GRCm39)	splice site	probably null
R4751:Aspdh	UTSW	7	44,116,629 (GRCm39)	nonsense	probably null
R6434:Aspdh	UTSW	7	44,116,474 (GRCm39)	missense	probably damaging	1.00
R8485:Aspdh	UTSW	7	44,117,093 (GRCm39)	missense	probably damaging	1.00
Z1177:Aspdh	UTSW	7	44,114,954 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCAAGGTCTGTCTGTCTCTG -3'
(R):5'- ATAGCACTGCTTACCCTGGC -3'

Sequencing Primer
(F):5'- ATGTGGGGCATCTCTGTCTCTC -3'
(R):5'- ACTGCTTACCCTGGCTGAGG -3'

Posted On

2015-04-06