Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Impdh1'

229151

Institutional Source

Beutler Lab

Gene Symbol

Impdh1

Ensembl Gene

ENSMUSG00000003500

Gene Name

inosine monophosphate dehydrogenase 1

Synonyms

B930086D20Rik

MMRRC Submission

040081-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R2076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29200435-29216363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29205162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 213 (A213V)

Ref Sequence

ENSEMBL: ENSMUSP00000125235 (fasta)

Gene Model

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

AlphaFold

P50096

Predicted Effect

probably damaging
Transcript: ENSMUST00000078155
AA Change: A236V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: A236V

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 damaging
Transcript: ENSMUST00000159124
AA Change: A236V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: A236V

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

possibly damaging
Transcript: ENSMUST00000160878
AA Change: A211V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: A211V

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 damaging
Transcript: ENSMUST00000162099
AA Change: A236V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: A236V

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

possibly damaging
Transcript: ENSMUST00000162739
AA Change: A260V

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: A260V

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 damaging
Transcript: ENSMUST00000162215
AA Change: A213V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125235
Gene: ENSMUSG00000003500
AA Change: A213V

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: 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

Meta Mutation Damage Score

0.6861

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

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
Abca5	A	T	11: 110,178,478 (GRCm39)	V1165D	probably benign	Het
Acot11	T	C	4: 106,627,910 (GRCm39)	H103R	probably damaging	Het
Apba1	G	T	19: 23,870,587 (GRCm39)	E140*	probably null	Het
Bicdl1	A	T	5: 115,793,987 (GRCm39)	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,840,802 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,197,177 (GRCm39)	R160G	probably damaging	Het
Cct7	A	T	6: 85,445,122 (GRCm39)	I458F	probably damaging	Het
Cd3g	T	A	9: 44,885,595 (GRCm39)	D50V	probably damaging	Het
Ces2h	T	C	8: 105,745,660 (GRCm39)	L461P	probably benign	Het
Cplane1	T	A	15: 8,248,741 (GRCm39)	D1763E	possibly damaging	Het
Csn2	A	G	5: 87,844,033 (GRCm39)	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,816,576 (GRCm39)	V4D	probably benign	Het
Ddx3y	A	G	Y: 1,266,593 (GRCm39)		probably null	Het
Dipk1c	G	T	18: 84,755,033 (GRCm39)	D170Y	probably damaging	Het
Dlgap1	C	T	17: 71,093,826 (GRCm39)	Q716*	probably null	Het
Dlx6	A	G	6: 6,867,098 (GRCm39)	S234G	probably benign	Het
Dnah7a	T	C	1: 53,542,968 (GRCm39)	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,281,481 (GRCm39)	Y2847*	probably null	Het
Dpysl2	A	G	14: 67,102,571 (GRCm39)	S30P	probably damaging	Het
Elp1	T	C	4: 56,786,620 (GRCm39)	D441G	probably damaging	Het
Ezh2	A	T	6: 47,553,567 (GRCm39)	L50*	probably null	Het
Fam135b	T	A	15: 71,350,092 (GRCm39)	E349D	probably damaging	Het
Foxl3	A	G	5: 138,807,022 (GRCm39)	D100G	probably benign	Het
Frat2	T	C	19: 41,836,242 (GRCm39)	T37A	probably benign	Het
Hivep1	G	A	13: 42,317,869 (GRCm39)		probably null	Het
Ift25	T	C	4: 107,136,964 (GRCm39)	S121P	possibly damaging	Het
Irf2	G	T	8: 47,298,962 (GRCm39)	W252L	probably damaging	Het
Irx4	A	G	13: 73,416,384 (GRCm39)	D260G	probably damaging	Het
Kalrn	T	A	16: 34,152,513 (GRCm39)	H338L	probably benign	Het
Kif9	T	A	9: 110,314,100 (GRCm39)		probably null	Het
Klhl24	T	C	16: 19,936,628 (GRCm39)	V412A	probably damaging	Het
Lgals8	T	A	13: 12,469,750 (GRCm39)	K70*	probably null	Het
Mrtfb	T	C	16: 13,219,246 (GRCm39)	S631P	probably benign	Het
Myo1e	T	A	9: 70,291,159 (GRCm39)	N983K	probably benign	Het
Nipbl	T	C	15: 8,340,691 (GRCm39)	R2010G	probably benign	Het
Npw	A	T	17: 24,876,413 (GRCm39)	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,262,881 (GRCm39)	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,178,479 (GRCm39)	Y579H	probably damaging	Het
Pde8a	A	G	7: 80,958,693 (GRCm39)	T330A	probably benign	Het
Plxnb2	C	T	15: 89,042,229 (GRCm39)	V1592M	probably damaging	Het
Ppp2r3d	A	C	9: 101,021,570 (GRCm39)	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,465,364 (GRCm39)	I1349K	probably damaging	Het
Rad52	C	T	6: 119,888,040 (GRCm39)	H9Y	probably benign	Het
Rapgef1	A	G	2: 29,592,520 (GRCm39)	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,320,262 (GRCm39)	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,164,088 (GRCm39)	M273V	probably benign	Het
Shoc1	A	G	4: 59,082,410 (GRCm39)	V406A	possibly damaging	Het
Slc30a3	G	T	5: 31,244,165 (GRCm39)	Y323*	probably null	Het
Slc5a9	T	C	4: 111,742,770 (GRCm39)	I441V	possibly damaging	Het
Spast	G	C	17: 74,659,026 (GRCm39)	G131A	probably damaging	Het
Syne1	C	G	10: 4,990,897 (GRCm39)	W8444S	probably damaging	Het
Tgm4	G	T	9: 122,880,160 (GRCm39)	A211S	probably benign	Het
Themis2	T	C	4: 132,513,113 (GRCm39)	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Uba3	G	T	6: 97,176,241 (GRCm39)	D88E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,144 (GRCm39)	M111K	probably damaging	Het
Wdr35	C	T	12: 9,074,281 (GRCm39)	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,005,032 (GRCm39)	H356Q	possibly damaging	Het
Zfp180	A	G	7: 23,804,528 (GRCm39)	K316E	probably damaging	Het
Zfp518a	T	C	19: 40,902,771 (GRCm39)	L900P	probably damaging	Het
Zfp655	A	G	5: 145,181,410 (GRCm39)	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,157,334 (GRCm39)	Q344R	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
IGL02294:Impdh1	APN	6	29,205,201 (GRCm39)	missense	probably benign	0.19
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCCTCACAAGCCTGATG -3'
(R):5'- GCTTCCTGATCTCTGGGAAG -3'

Sequencing Primer
(F):5'- GCCACCTCCTTACTAGTAC -3'
(R):5'- CACCTAGTGGCTAGCTTAGGTAC -3'

Posted On

2014-09-17