Mutagenetix > Incidental Mutation

Incidental Mutation 'R1824:Impdh1'

206662

Institutional Source

Beutler Lab

Gene Symbol

Impdh1

Ensembl Gene

ENSMUSG00000003500

Gene Name

inosine monophosphate dehydrogenase 1

Synonyms

B930086D20Rik

MMRRC Submission

039852-MU

Accession Numbers

Essential gene?

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

Stock #

R1824 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29200435-29216363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29205087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 261 (D261V)

Ref Sequence

ENSEMBL: ENSMUSP00000124541 (fasta)

Gene Model

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

AlphaFold

P50096

Predicted Effect

probably benign
Transcript: ENSMUST00000078155
AA Change: D261V

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: D261V

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: D261V

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: D261V

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: D236V

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: D236V

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: D261V

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: D261V

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: ENSMUST00000162739
AA Change: D285V

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

SMART Domains

Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: D285V

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

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,708,086 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	A	3: 59,840,001 (GRCm39)	Y24*	probably null	Het
Abl1	T	A	2: 31,690,656 (GRCm39)	M706K	probably benign	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Acd	A	G	8: 106,427,122 (GRCm39)	L96P	probably damaging	Het
Arsi	T	A	18: 61,045,369 (GRCm39)	W20R	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asic3	C	T	5: 24,618,749 (GRCm39)	Q14*	probably null	Het
Asxl3	T	A	18: 22,655,125 (GRCm39)	I1045N	probably damaging	Het
Atr	T	C	9: 95,818,474 (GRCm39)	I2149T	probably damaging	Het
Begain	A	G	12: 108,999,025 (GRCm39)		probably null	Het
Brca2	C	T	5: 150,460,387 (GRCm39)	T554I	possibly damaging	Het
Brd10	T	C	19: 29,693,814 (GRCm39)	N1960S	probably damaging	Het
C1s2	C	T	6: 124,612,641 (GRCm39)	V11I	probably benign	Het
Cacna1i	T	C	15: 80,260,990 (GRCm39)	F1333L	possibly damaging	Het
Camsap2	T	C	1: 136,201,521 (GRCm39)	T662A	possibly damaging	Het
Cep164	C	T	9: 45,690,226 (GRCm39)	V1367M	probably damaging	Het
Cfap46	C	A	7: 139,219,518 (GRCm39)	A1316S	probably benign	Het
Cic	T	C	7: 24,987,691 (GRCm39)	S553P	probably damaging	Het
Cilk1	T	A	9: 78,065,144 (GRCm39)	D351E	probably benign	Het
Clcn2	C	T	16: 20,534,712 (GRCm39)	A12T	probably benign	Het
Clip2	A	G	5: 134,532,081 (GRCm39)	Y540H	probably benign	Het
Coil	A	G	11: 88,872,923 (GRCm39)	N428S	possibly damaging	Het
Cpxm1	A	C	2: 130,237,617 (GRCm39)	V196G	probably damaging	Het
Cr2	A	G	1: 194,839,624 (GRCm39)	V601A	probably damaging	Het
Cyp3a25	T	A	5: 145,921,763 (GRCm39)	K390N	probably damaging	Het
Dclre1a	T	C	19: 56,535,150 (GRCm39)		probably null	Het
Dennd4a	G	C	9: 64,766,640 (GRCm39)		probably null	Het
Dlg5	T	C	14: 24,199,512 (GRCm39)	H1464R	probably benign	Het
Dmac2	T	G	7: 25,324,217 (GRCm39)	M225R	probably damaging	Het
Dnah8	T	C	17: 30,950,154 (GRCm39)	V1991A	possibly damaging	Het
Dscam	A	C	16: 96,626,781 (GRCm39)	V376G	probably benign	Het
Dync1li1	A	G	9: 114,538,252 (GRCm39)	D203G	probably benign	Het
Eva1c	A	G	16: 90,663,331 (GRCm39)	T22A	probably benign	Het
Fam110b	A	G	4: 5,799,029 (GRCm39)	D149G	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Fsip1	T	C	2: 118,063,389 (GRCm39)	D360G	probably damaging	Het
Galnt14	T	C	17: 74,016,934 (GRCm39)	T41A	probably benign	Het
Gdf3	T	A	6: 122,586,921 (GRCm39)	Q2L	probably benign	Het
Glrp1	A	G	1: 88,437,511 (GRCm39)		probably null	Het
Gm3336	C	G	8: 71,173,066 (GRCm39)		probably null	Het
Gm8674	C	T	13: 50,054,844 (GRCm39)		noncoding transcript	Het
Gnat1	A	G	9: 107,553,774 (GRCm39)	Y226H	probably damaging	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
H1f8	A	G	6: 115,925,719 (GRCm39)	Y1C	probably null	Het
Igfbpl1	C	A	4: 45,826,406 (GRCm39)	A130S	probably benign	Het
Itgal	T	A	7: 126,913,232 (GRCm39)	S610T	probably damaging	Het
Jcad	A	G	18: 4,649,293 (GRCm39)	T55A	probably benign	Het
Jup	G	A	11: 100,264,963 (GRCm39)	R663*	probably null	Het
Kalrn	C	T	16: 34,114,585 (GRCm39)	G556D	probably damaging	Het
Krt81	T	C	15: 101,358,020 (GRCm39)	E411G	probably damaging	Het
Lcat	T	C	8: 106,666,520 (GRCm39)	E334G	probably damaging	Het
Lhcgr	T	C	17: 89,057,585 (GRCm39)	E302G	probably benign	Het
Magi1	A	G	6: 93,676,620 (GRCm39)	V913A	possibly damaging	Het
Mrpl19	A	T	6: 81,941,060 (GRCm39)		probably null	Het
Muc4	G	T	16: 32,576,307 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo3a	G	A	2: 22,401,054 (GRCm39)	V600I	probably benign	Het
Ndufv3	G	A	17: 31,750,219 (GRCm39)	R467Q	probably damaging	Het
Ngef	A	G	1: 87,430,986 (GRCm39)		probably null	Het
Nisch	A	T	14: 30,898,389 (GRCm39)		probably benign	Het
Nlrp4c	G	A	7: 6,069,955 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,867,223 (GRCm39)	S154T	probably damaging	Het
Obscn	A	G	11: 58,885,658 (GRCm39)		probably benign	Het
Or2t1	T	A	14: 14,328,774 (GRCm38)	L221Q	probably damaging	Het
Or4a74	G	T	2: 89,439,693 (GRCm39)	P251H	probably damaging	Het
Or6c219	T	C	10: 129,781,206 (GRCm39)	M242V	possibly damaging	Het
Otogl	T	C	10: 107,615,692 (GRCm39)	N1869S	probably benign	Het
Phf24	G	T	4: 42,934,661 (GRCm39)	C136F	probably damaging	Het
Phldb2	A	T	16: 45,646,374 (GRCm39)	V65E	probably benign	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Prl8a8	A	T	13: 27,692,433 (GRCm39)	M186K	probably damaging	Het
Qars1	T	C	9: 108,391,809 (GRCm39)	V70A	probably damaging	Het
Rac1	C	T	5: 143,502,980 (GRCm39)	V14I	probably benign	Het
Rapgef5	T	A	12: 117,652,419 (GRCm39)		probably null	Het
Slc16a12	G	A	19: 34,648,278 (GRCm39)	T405M	possibly damaging	Het
Slc17a6	A	G	7: 51,311,294 (GRCm39)	Y336C	probably damaging	Het
Slc30a9	T	C	5: 67,505,395 (GRCm39)	L441P	probably damaging	Het
Slc45a2	T	C	15: 11,022,172 (GRCm39)	S305P	probably damaging	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Sp1	T	G	15: 102,339,438 (GRCm39)	S773A	possibly damaging	Het
Spen	C	A	4: 141,200,096 (GRCm39)	G2821C	probably damaging	Het
Tagap1	A	G	17: 7,223,425 (GRCm39)	S424P	probably benign	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Tfec	C	T	6: 16,840,467 (GRCm39)		probably null	Het
Thsd7a	A	T	6: 12,409,041 (GRCm39)		probably null	Het
Tnfsf15	C	A	4: 63,651,588 (GRCm39)	G112V	probably benign	Het
Tnfsf9	A	G	17: 57,412,738 (GRCm39)	T103A	probably benign	Het
Tnxb	C	T	17: 34,911,307 (GRCm39)	R1537*	probably null	Het
Tpra1	A	G	6: 88,888,805 (GRCm39)	N329S	probably benign	Het
Ttc12	A	G	9: 49,368,184 (GRCm39)	F281S	probably damaging	Het
Unc79	A	G	12: 103,025,579 (GRCm39)	N322S	probably damaging	Het
Unk	G	T	11: 115,921,268 (GRCm39)		probably benign	Het
Usp4	G	T	9: 108,225,207 (GRCm39)	G31W	probably damaging	Het
Vcan	G	T	13: 89,853,331 (GRCm39)	A543D	possibly damaging	Het
Vil1	A	C	1: 74,457,606 (GRCm39)	I80L	probably benign	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Vpreb1a	A	G	16: 16,686,935 (GRCm39)		probably null	Het
Zbtb6	C	T	2: 37,319,829 (GRCm39)	C33Y	probably damaging	Het
Zfp330	A	T	8: 83,492,644 (GRCm39)	C189*	probably null	Het
Zfp942	T	A	17: 22,147,522 (GRCm39)	H369L	probably damaging	Het
Zfp943	T	A	17: 22,211,361 (GRCm39)	I149K	probably benign	Het
Zfyve19	G	A	2: 119,042,016 (GRCm39)	V162M	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
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

Predicted Primers

PCR Primer
(F):5'- TGTTCTGGGCTCTACAATTAGC -3'
(R):5'- ACTTCAGGGGTCTCTCGTTC -3'

Sequencing Primer
(F):5'- ACAATTAGCCTAGTTCTGATACCAG -3'
(R):5'- AGGGGTCTCTCGTTCCATTTC -3'

Posted On

2014-06-23