Mutagenetix > Incidental Mutation

Incidental Mutation 'R6434:Aspdh'

518696

Institutional Source

Beutler Lab

Gene Symbol

Aspdh

Ensembl Gene

ENSMUSG00000038704

Gene Name

aspartate dehydrogenase domain containing

Synonyms

0610012D14Rik

MMRRC Submission

044572-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6434 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44114859-44117175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44116474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 86 (A86T)

Ref Sequence

ENSEMBL: ENSMUSP00000121766 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000035929
AA Change: A204T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704
AA Change: A204T

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

probably damaging
Transcript: ENSMUST00000146128
AA Change: A186T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704
AA Change: A186T

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: ENSMUST00000149341

Predicted Effect

probably benign
Transcript: ENSMUST00000139097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132952

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

noncoding transcript
Transcript: ENSMUST00000130220

Predicted Effect

probably benign
Transcript: ENSMUST00000134398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133656

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: ENSMUST00000135624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133801

Predicted Effect

probably benign
Transcript: ENSMUST00000152902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131817

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 damaging
Transcript: ENSMUST00000156957
AA Change: A86T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704
AA Change: A86T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207591

Predicted Effect

probably benign
Transcript: ENSMUST00000206887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184821

Meta Mutation Damage Score

0.3974

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	A	C	16: 52,109,190 (GRCm39)		probably null	Het
Ankle2	A	G	5: 110,401,759 (GRCm39)	Y807C	probably damaging	Het
Arhgef26	A	C	3: 62,336,335 (GRCm39)	M625L	probably damaging	Het
Atl1	G	T	12: 70,006,199 (GRCm39)	E502*	probably null	Het
Atp6v1c1	T	C	15: 38,677,790 (GRCm39)	F105S	probably damaging	Het
Auh	C	A	13: 53,083,446 (GRCm39)	G17C	probably benign	Het
Ccdc81	T	C	7: 89,525,352 (GRCm39)	Y474C	probably damaging	Het
Ccdc82	T	C	9: 13,251,659 (GRCm39)		probably benign	Het
Ccdc96	T	G	5: 36,643,707 (GRCm39)	V571G	probably damaging	Het
Col6a5	C	A	9: 105,814,544 (GRCm39)	E489D	unknown	Het
Dchs2	T	A	3: 83,176,577 (GRCm39)	I845N	probably damaging	Het
Dnajc11	T	C	4: 152,063,751 (GRCm39)	V449A	probably damaging	Het
Ect2	A	T	3: 27,193,268 (GRCm39)	Y269*	probably null	Het
Egfr	T	C	11: 16,819,294 (GRCm39)	Y275H	probably benign	Het
Fan1	T	A	7: 64,004,129 (GRCm39)	D779V	probably damaging	Het
Fancm	T	C	12: 65,123,942 (GRCm39)	V200A	probably damaging	Het
Frem1	A	G	4: 82,884,253 (GRCm39)	I1214T	probably benign	Het
Gm3415	T	A	5: 146,494,752 (GRCm39)	F138L	probably benign	Het
Gtse1	C	A	15: 85,759,370 (GRCm39)	T626K	probably benign	Het
Herc1	T	A	9: 66,393,464 (GRCm39)	H4114Q	probably damaging	Het
Ifi44	T	A	3: 151,454,826 (GRCm39)	N133I	probably benign	Het
Ilf3	A	G	9: 21,314,447 (GRCm39)		probably benign	Het
Inpp4a	A	G	1: 37,437,919 (GRCm39)	T593A	probably damaging	Het
Iqgap2	A	T	13: 95,819,441 (GRCm39)	W634R	possibly damaging	Het
Kcnh4	T	A	11: 100,641,105 (GRCm39)	N448I	probably damaging	Het
Klhl33	G	A	14: 51,130,564 (GRCm39)	A310V	probably damaging	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Lrig2	T	C	3: 104,398,863 (GRCm39)	K222E	possibly damaging	Het
Manba	G	A	3: 135,217,734 (GRCm39)		probably null	Het
Mga	A	T	2: 119,754,419 (GRCm39)	Q976L	probably damaging	Het
Mtmr4	A	G	11: 87,504,309 (GRCm39)	D1086G	probably damaging	Het
Muc20	A	G	16: 32,615,176 (GRCm39)	V67A	probably benign	Het
Myh3	T	A	11: 66,973,193 (GRCm39)	L97Q	probably damaging	Het
Nars1	T	C	18: 64,640,872 (GRCm39)	T195A	probably benign	Het
Npat	A	T	9: 53,474,739 (GRCm39)	I844L	possibly damaging	Het
Nrxn3	T	C	12: 88,762,285 (GRCm39)	F111L	probably benign	Het
Obp2b	T	C	2: 25,628,599 (GRCm39)	Y118H	probably damaging	Het
Or5w1	T	A	2: 87,486,558 (GRCm39)	K236*	probably null	Het
Or7e170	A	T	9: 19,795,141 (GRCm39)	Y153*	probably null	Het
Patj	A	G	4: 98,379,866 (GRCm39)	D215G	probably damaging	Het
Pex1	T	A	5: 3,680,196 (GRCm39)	Y979*	probably null	Het
Septin3	G	A	15: 82,163,804 (GRCm39)	V54I	possibly damaging	Het
Shc3	A	G	13: 51,603,326 (GRCm39)	Y260H	probably damaging	Het
Simc1	A	G	13: 54,674,477 (GRCm39)	T942A	probably benign	Het
Slco1c1	T	C	6: 141,493,576 (GRCm39)	S371P	probably damaging	Het
Snrnp200	T	A	2: 127,080,574 (GRCm39)	I2029N	probably damaging	Het
Syne1	A	G	10: 5,268,422 (GRCm39)	V2089A	probably benign	Het
Syne2	T	C	12: 76,088,230 (GRCm39)	S5016P	probably damaging	Het
Tril	G	C	6: 53,795,493 (GRCm39)	D576E	probably damaging	Het
Tubb2b	C	T	13: 34,311,561 (GRCm39)	A411T	probably damaging	Het
Ubr4	T	C	4: 139,156,949 (GRCm39)	Y2325H	probably damaging	Het
Utp20	A	T	10: 88,608,395 (GRCm39)	C1547*	probably null	Het
Utrn	A	T	10: 12,401,171 (GRCm39)	W98R	probably damaging	Het
Vps35	C	T	8: 86,000,124 (GRCm39)	D501N	possibly damaging	Het
Wdr48	T	C	9: 119,745,879 (GRCm39)	S421P	possibly damaging	Het
Yju2b	A	G	8: 84,989,630 (GRCm39)	I63T	probably damaging	Het
Zfp719	C	A	7: 43,240,412 (GRCm39)	H667N	probably damaging	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
R3854:Aspdh	UTSW	7	44,115,613 (GRCm39)	missense	possibly damaging	0.93
R4751:Aspdh	UTSW	7	44,116,629 (GRCm39)	nonsense	probably null
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'- TTCCAGAGCCTTCGAGTCAC -3'
(R):5'- TGTAACAGTAGCAGAGCCGG -3'

Sequencing Primer
(F):5'- AGAGCCTTCGAGTCACCATGG -3'
(R):5'- TGTGCACGGCAAAGCTG -3'

Posted On

2018-05-24