Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02294:Impdh1'

290149

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Impdh1

Ensembl Gene

ENSMUSG00000003500

Gene Name

inosine monophosphate dehydrogenase 1

Synonyms

B930086D20Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

IGL02294

Quality Score

Status

Chromosome

Chromosomal Location

29200435-29216363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29205201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 200 (A200V)

Ref Sequence

ENSEMBL: ENSMUSP00000125235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078155] [ENSMUST00000159124] [ENSMUST00000160749] [ENSMUST00000160878] [ENSMUST00000162099] [ENSMUST00000162215] [ENSMUST00000162739]

AlphaFold

P50096

Predicted Effect

probably benign
Transcript: ENSMUST00000078155
AA Change: A223V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: A223V

Domain	Start	End	E-Value	Type
IMPDH	28	504	6.73e-263	SMART
CBS	117	168	6.49e-10	SMART
CBS	184	232	3.37e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159124
AA Change: A223V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: A223V

Domain	Start	End	E-Value	Type
IMPDH	28	504	6.73e-263	SMART
CBS	117	168	6.49e-10	SMART
CBS	184	232	3.37e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160613

Predicted Effect

probably benign
Transcript: ENSMUST00000160749

SMART Domains

Protein: ENSMUSP00000125488
Gene: ENSMUSG00000003500

Domain	Start	End	E-Value	Type
Pfam:IMPDH	28	84	3.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160878
AA Change: A198V

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: A198V

Domain	Start	End	E-Value	Type
IMPDH	28	479	2.97e-232	SMART
CBS	92	143	6.49e-10	SMART
CBS	159	207	3.37e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161654

Predicted Effect

probably benign
Transcript: ENSMUST00000162099
AA Change: A223V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: A223V

Domain	Start	End	E-Value	Type
IMPDH	28	504	6.73e-263	SMART
CBS	117	168	6.49e-10	SMART
CBS	184	232	3.37e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162215
AA Change: A200V

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125235
Gene: ENSMUSG00000003500
AA Change: A200V

Domain	Start	End	E-Value	Type
IMPDH	28	231	5.75e-17	SMART
CBS	161	209	3.37e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162739
AA Change: A247V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: A247V

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
low complexity region	32	61	N/A	INTRINSIC
IMPDH	86	558	2e-256	SMART
CBS	171	222	6.49e-10	SMART
CBS	238	286	3.37e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162242

SMART Domains

Protein: ENSMUSP00000123981
Gene: ENSMUSG00000003500

Domain	Start	End	E-Value	Type
IMPDH	1	145	2e-11	SMART
low complexity region	165	181	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mic homozygous for disruptions of this gene display abnormalities in T cell proliferation. Mice homozygous for an ENU-induced mutation exhibit reduced thickness of the outer nuclear layer and total retina thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	G	18: 65,439,146 (GRCm39)	V749A	possibly damaging	Het
Col6a4	T	C	9: 105,943,931 (GRCm39)	D1181G	probably benign	Het
Crb1	A	G	1: 139,162,520 (GRCm39)	S1213P	possibly damaging	Het
D430041D05Rik	A	T	2: 104,085,351 (GRCm39)	M1066K	probably benign	Het
Fasn	G	T	11: 120,701,102 (GRCm39)	T1999N	probably damaging	Het
Flg2	C	T	3: 93,111,053 (GRCm39)	A1027V	unknown	Het
Gbp5	T	A	3: 142,209,588 (GRCm39)	V178E	probably damaging	Het
Hdac4	T	C	1: 91,909,929 (GRCm39)	D445G	probably benign	Het
Hps3	T	C	3: 20,068,212 (GRCm39)	E482G	probably damaging	Het
Kdm2b	T	C	5: 123,099,537 (GRCm39)	Y134C	probably damaging	Het
Ly6g	T	A	15: 75,030,413 (GRCm39)	I77N	possibly damaging	Het
Oprk1	T	G	1: 5,672,610 (GRCm39)	M249R	probably damaging	Het
Or5ac21	T	C	16: 59,123,975 (GRCm39)	L153P	probably damaging	Het
Or5h17	T	C	16: 58,820,428 (GRCm39)	C127R	probably damaging	Het
Otud4	A	G	8: 80,391,606 (GRCm39)		probably benign	Het
Slc16a4	T	C	3: 107,208,384 (GRCm39)	I298T	probably benign	Het
Sox21	A	G	14: 118,472,950 (GRCm39)	M33T	probably benign	Het
Speer4a1	T	A	5: 26,243,240 (GRCm39)	T82S	probably benign	Het
Stard13	T	C	5: 150,986,580 (GRCm39)	D310G	probably benign	Het
Trpm6	C	A	19: 18,831,427 (GRCm39)	Q1431K	probably benign	Het
Ufl1	T	A	4: 25,259,281 (GRCm39)	K446*	probably null	Het
Vmn2r19	A	G	6: 123,306,937 (GRCm39)	T482A	probably benign	Het

Other mutations in Impdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Impdh1	APN	6	29,203,377 (GRCm39)	missense	probably damaging	0.97
IGL01642:Impdh1	APN	6	29,207,165 (GRCm39)	missense	possibly damaging	0.57
IGL02187:Impdh1	APN	6	29,207,086 (GRCm39)	splice site	probably benign
IGL02570:Impdh1	APN	6	29,203,197 (GRCm39)	missense	probably damaging	1.00
IGL02858:Impdh1	APN	6	29,206,924 (GRCm39)	nonsense	probably null
IGL02874:Impdh1	APN	6	29,203,155 (GRCm39)	missense	probably damaging	1.00
steve	UTSW	6	29,204,631 (GRCm39)	nonsense	probably null
R0089:Impdh1	UTSW	6	29,206,325 (GRCm39)	missense	probably benign
R0855:Impdh1	UTSW	6	29,206,971 (GRCm39)	missense	probably damaging	1.00
R1331:Impdh1	UTSW	6	29,206,477 (GRCm39)	missense	probably damaging	0.96
R1797:Impdh1	UTSW	6	29,207,168 (GRCm39)	missense	probably damaging	0.98
R1824:Impdh1	UTSW	6	29,205,087 (GRCm39)	missense	probably benign	0.08
R1981:Impdh1	UTSW	6	29,206,450 (GRCm39)	missense	possibly damaging	0.70
R2076:Impdh1	UTSW	6	29,205,162 (GRCm39)	missense	probably damaging	0.99
R3841:Impdh1	UTSW	6	29,202,768 (GRCm39)	missense	probably damaging	0.98
R4020:Impdh1	UTSW	6	29,202,693 (GRCm39)	missense	probably benign	0.01
R4415:Impdh1	UTSW	6	29,209,221 (GRCm39)	missense	probably damaging	1.00
R4471:Impdh1	UTSW	6	29,204,631 (GRCm39)	nonsense	probably null
R4777:Impdh1	UTSW	6	29,205,201 (GRCm39)	missense	possibly damaging	0.95
R5783:Impdh1	UTSW	6	29,206,342 (GRCm39)	missense	possibly damaging	0.66
R5973:Impdh1	UTSW	6	29,207,161 (GRCm39)	missense	probably damaging	1.00
R7230:Impdh1	UTSW	6	29,206,062 (GRCm39)	splice site	probably null
R7512:Impdh1	UTSW	6	29,207,168 (GRCm39)	missense	probably benign	0.22
R8686:Impdh1	UTSW	6	29,216,214 (GRCm39)	start gained	probably benign
R8893:Impdh1	UTSW	6	29,216,248 (GRCm39)	start gained	probably benign

Posted On

2015-04-16