Mutagenetix > Incidental Mutation

Incidental Mutation 'R8686:Impdh1'

662036

Institutional Source

Beutler Lab

Gene Symbol

Impdh1

Ensembl Gene

ENSMUSG00000003500

Gene Name

inosine monophosphate dehydrogenase 1

Synonyms

MMRRC Submission

068541-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R8686 (G1)

Quality Score

99.0078

Status

Validated

Chromosome

Chromosomal Location

29200434-29216364 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 29216215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500

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

SMART Domains

Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500

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: 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

SMART Domains

Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500

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

probably benign
Transcript: ENSMUST00000162099

SMART Domains

Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500

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

SMART Domains

Protein: ENSMUSP00000125235
Gene: ENSMUSG00000003500

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

Predicted Effect

silent
Transcript: ENSMUST00000162739

SMART Domains

Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	C	T	9: 103,259,428 (GRCm38)	A525T	probably benign	Het
Adam25	A	G	8: 40,755,484 (GRCm38)	T596A	probably benign	Het
Adamts6	A	G	13: 104,313,699 (GRCm38)	I303V	probably damaging	Het
Alpl	A	T	4: 137,743,801 (GRCm38)	H341Q	probably damaging	Het
Cachd1	G	A	4: 100,988,128 (GRCm38)	R939H	probably damaging	Het
Ccdc114	A	G	7: 45,947,692 (GRCm38)	T456A	probably benign	Het
Cd22	G	A	7: 30,870,069 (GRCm38)	R541C	probably benign	Het
Cenpf	A	T	1: 189,659,604 (GRCm38)	M660K	probably benign	Het
Cmya5	A	T	13: 93,095,380 (GRCm38)	S1067T	possibly damaging	Het
Col5a2	C	T	1: 45,421,987 (GRCm38)	G250D	probably damaging	Het
Cylc2	C	T	4: 51,229,651 (GRCm38)	T331M	unknown	Het
Dgka	A	G	10: 128,733,093 (GRCm38)	M201T	probably benign	Het
Dnajc13	T	C	9: 104,170,805 (GRCm38)	I1804V	probably benign	Het
Dym	T	A	18: 75,286,683 (GRCm38)	Y642N	probably damaging	Het
Efr3b	A	T	12: 4,000,886 (GRCm38)	D26E	probably damaging	Het
Emilin1	A	T	5: 30,917,696 (GRCm38)	K427M	possibly damaging	Het
Fam187b	T	C	7: 30,977,234 (GRCm38)	L56S	probably benign	Het
Fbxo18	C	T	2: 11,755,658 (GRCm38)	V694I	probably benign	Het
Fgd2	C	T	17: 29,379,023 (GRCm38)	T644I	probably benign	Het
G6pc	T	G	11: 101,374,707 (GRCm38)		probably null	Het
Gli2	A	G	1: 118,836,687 (GRCm38)	S1245P	probably benign	Het
Gm10696	T	C	3: 94,176,120 (GRCm38)	D128G	probably benign	Het
Gpr137b	T	C	13: 13,359,406 (GRCm38)	Y355C		Het
Ighv1-84	T	C	12: 115,980,904 (GRCm38)	D50G	probably benign	Het
Irf4	A	T	13: 30,761,450 (GRCm38)	D393V	possibly damaging	Het
Kalrn	A	G	16: 34,360,935 (GRCm38)	L111P	probably damaging	Het
Lrch3	T	C	16: 32,981,853 (GRCm38)	V58A	possibly damaging	Het
Lrif1	C	T	3: 106,732,781 (GRCm38)	T394I	probably damaging	Het
Map4k1	A	G	7: 28,994,073 (GRCm38)	T434A	probably benign	Het
Mcur1	G	A	13: 43,541,717 (GRCm38)	T327M	probably damaging	Het
Mettl7b	A	T	10: 128,960,607 (GRCm38)	M111K	possibly damaging	Het
Myo9b	G	T	8: 71,334,322 (GRCm38)	S716I	probably benign	Het
Nol10	T	A	12: 17,369,771 (GRCm38)		probably benign	Het
Nos3	A	G	5: 24,368,843 (GRCm38)	T202A	possibly damaging	Het
Olfr128	T	C	17: 37,924,277 (GRCm38)	V237A	probably benign	Het
Olfr710	A	C	7: 106,944,698 (GRCm38)	M101R	probably benign	Het
Parp12	A	T	6: 39,117,922 (GRCm38)	S80T	probably benign	Het
Pde1a	C	T	2: 79,927,742 (GRCm38)	V50I	probably benign	Het
Pfkl	A	T	10: 77,997,522 (GRCm38)		probably null	Het
Phkg1	A	T	5: 129,866,215 (GRCm38)	Y207N	probably damaging	Het
Pik3r4	A	G	9: 105,658,529 (GRCm38)	T640A	possibly damaging	Het
Pip5k1c	C	A	10: 81,311,993 (GRCm38)	H411N	probably damaging	Het
Pla2g4e	A	G	2: 120,244,691 (GRCm38)	S73P	probably damaging	Het
Polr2b	T	C	5: 77,335,663 (GRCm38)	V662A	probably damaging	Het
Prss43	C	T	9: 110,829,426 (GRCm38)	R265C	possibly damaging	Het
Rap1b	A	T	10: 117,822,841 (GRCm38)	V29D	probably damaging	Het
Rraga	A	G	4: 86,576,811 (GRCm38)	E298G	probably damaging	Het
Rrp8	A	T	7: 105,733,574 (GRCm38)	I418N	probably damaging	Het
Siglecf	T	C	7: 43,355,606 (GRCm38)	V420A	probably benign	Het
Snx14	T	A	9: 88,415,693 (GRCm38)	N174I	probably damaging	Het
Speer4e	T	C	5: 14,934,115 (GRCm38)	N229S	probably benign	Het
Teddm3	A	G	16: 21,152,935 (GRCm38)	*295Q	probably null	Het
Tfap2c	A	G	2: 172,552,006 (GRCm38)	D245G	possibly damaging	Het
Tfap2d	A	G	1: 19,108,284 (GRCm38)	N191S	probably benign	Het
Unc80	A	G	1: 66,612,268 (GRCm38)	R1591G	possibly damaging	Het
Vmn1r116	T	C	7: 20,872,691 (GRCm38)	W146R	probably damaging	Het
Vps13b	C	G	15: 35,925,389 (GRCm38)	S3823R	probably damaging	Het
Wiz	T	A	17: 32,367,847 (GRCm38)	D163V	probably damaging	Het
Xylt1	G	C	7: 117,381,359 (GRCm38)	A61P	unknown	Het
Zfp521	A	C	18: 13,845,644 (GRCm38)	F571V	probably damaging	Het
Zfp664	T	A	5: 124,886,069 (GRCm38)	C176S	possibly damaging	Het
Zfyve26	T	C	12: 79,287,453 (GRCm38)	N264D	probably benign	Het

Other mutations in Impdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Impdh1	APN	6	29,203,378 (GRCm38)	missense	probably damaging	0.97
IGL01642:Impdh1	APN	6	29,207,166 (GRCm38)	missense	possibly damaging	0.57
IGL02187:Impdh1	APN	6	29,207,087 (GRCm38)	splice site	probably benign
IGL02294:Impdh1	APN	6	29,205,202 (GRCm38)	missense	probably benign	0.19
IGL02570:Impdh1	APN	6	29,203,198 (GRCm38)	missense	probably damaging	1.00
IGL02858:Impdh1	APN	6	29,206,925 (GRCm38)	nonsense	probably null
IGL02874:Impdh1	APN	6	29,203,156 (GRCm38)	missense	probably damaging	1.00
steve	UTSW	6	29,204,632 (GRCm38)	nonsense	probably null
R0089:Impdh1	UTSW	6	29,206,326 (GRCm38)	missense	probably benign
R0855:Impdh1	UTSW	6	29,206,972 (GRCm38)	missense	probably damaging	1.00
R1331:Impdh1	UTSW	6	29,206,478 (GRCm38)	missense	probably damaging	0.96
R1797:Impdh1	UTSW	6	29,207,169 (GRCm38)	missense	probably damaging	0.98
R1824:Impdh1	UTSW	6	29,205,088 (GRCm38)	missense	probably benign	0.08
R1981:Impdh1	UTSW	6	29,206,451 (GRCm38)	missense	possibly damaging	0.70
R2076:Impdh1	UTSW	6	29,205,163 (GRCm38)	missense	probably damaging	0.99
R3841:Impdh1	UTSW	6	29,202,769 (GRCm38)	missense	probably damaging	0.98
R4020:Impdh1	UTSW	6	29,202,694 (GRCm38)	missense	probably benign	0.01
R4415:Impdh1	UTSW	6	29,209,222 (GRCm38)	missense	probably damaging	1.00
R4471:Impdh1	UTSW	6	29,204,632 (GRCm38)	nonsense	probably null
R4777:Impdh1	UTSW	6	29,205,202 (GRCm38)	missense	possibly damaging	0.95
R5783:Impdh1	UTSW	6	29,206,343 (GRCm38)	missense	possibly damaging	0.66
R5973:Impdh1	UTSW	6	29,207,162 (GRCm38)	missense	probably damaging	1.00
R7230:Impdh1	UTSW	6	29,206,063 (GRCm38)	splice site	probably null
R7512:Impdh1	UTSW	6	29,207,169 (GRCm38)	missense	probably benign	0.22
R8893:Impdh1	UTSW	6	29,216,249 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTAACTGCGTCTGGGGAAG -3'
(R):5'- GCTTACTTTTCAGCCTGAGTG -3'

Sequencing Primer
(F):5'- TCTGGGGAAGTGCAATGGC -3'
(R):5'- AGCCCTATGGACTCCAGGAC -3'

Posted On

2021-03-08