Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:Impdh1'

329423

Institutional Source

Beutler Lab

Gene Symbol

Impdh1

Ensembl Gene

ENSMUSG00000003500

Gene Name

inosine monophosphate dehydrogenase 1

Synonyms

B930086D20Rik

MMRRC Submission

041728-MU

Accession Numbers

Essential gene?

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

Stock #

R4471 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

29200435-29216363 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 29204631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 307 (Q307*)

Ref Sequence

ENSEMBL: ENSMUSP00000125077 (fasta)

Gene Model

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

AlphaFold

P50096

Predicted Effect

probably null
Transcript: ENSMUST00000078155
AA Change: Q283*

SMART Domains

Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: Q283*

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 null
Transcript: ENSMUST00000159124
AA Change: Q283*

SMART Domains

Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: Q283*

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 null
Transcript: ENSMUST00000160878
AA Change: Q258*

SMART Domains

Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: Q258*

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 null
Transcript: ENSMUST00000162099
AA Change: Q283*

SMART Domains

Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: Q283*

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 null
Transcript: ENSMUST00000162739
AA Change: Q307*

SMART Domains

Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: Q307*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,367,040 (GRCm39)	K49M	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Cdc34b	A	G	11: 94,633,064 (GRCm39)	E88G	probably benign	Het
Cdh2	T	C	18: 16,907,533 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,174,025 (GRCm39)	N210I	possibly damaging	Het
Celf3	A	G	3: 94,395,585 (GRCm39)		probably null	Het
Cfap20dc	A	G	14: 8,536,571 (GRCm38)	L212P	probably damaging	Het
Cmya5	A	T	13: 93,228,833 (GRCm39)	M2085K	probably benign	Het
Cpne6	G	A	14: 55,754,089 (GRCm39)	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dnajb4	A	T	3: 151,890,799 (GRCm39)	H333Q	probably benign	Het
Eif3f	T	C	7: 108,540,153 (GRCm39)	V316A	possibly damaging	Het
Eml1	T	C	12: 108,472,894 (GRCm39)		probably benign	Het
Ern1	C	A	11: 106,310,868 (GRCm39)	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092 (GRCm39)	H170L	probably benign	Het
Fn3krp	T	G	11: 121,317,499 (GRCm39)	D146E	probably benign	Het
Git1	A	G	11: 77,390,650 (GRCm39)	T129A	probably benign	Het
Glrp1	T	A	1: 88,431,196 (GRCm39)	Q58L	unknown	Het
Gpatch2	A	G	1: 186,965,337 (GRCm39)	E281G	probably damaging	Het
Hipk2	T	A	6: 38,713,857 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,313,764 (GRCm39)	N4214S	probably damaging	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Ivns1abp	C	T	1: 151,236,990 (GRCm39)	T447M	probably benign	Het
Lman1	A	T	18: 66,124,797 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,668,860 (GRCm39)	E306G	probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mtif2	T	C	11: 29,490,053 (GRCm39)		probably benign	Het
Mvp	C	T	7: 126,601,130 (GRCm39)	M1I	probably null	Het
Myh7	A	T	14: 55,229,311 (GRCm39)	Y162*	probably null	Het
Nemf	G	A	12: 69,361,216 (GRCm39)	H956Y	probably benign	Het
Nktr	T	C	9: 121,577,962 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Patj	A	G	4: 98,423,816 (GRCm39)	K621E	probably damaging	Het
Prss2	A	G	6: 41,499,780 (GRCm39)	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,571,259 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,027 (GRCm39)	V482A	probably benign	Het
Rexo1	A	T	10: 80,378,492 (GRCm39)	S476T	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc16a3	T	C	11: 120,846,774 (GRCm39)		probably benign	Het
Slc5a4b	G	A	10: 75,894,725 (GRCm39)	Q594*	probably null	Het
Slk	T	G	19: 47,603,862 (GRCm39)	V202G	probably damaging	Het
Smarca2	T	A	19: 26,597,277 (GRCm39)	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,080,673 (GRCm39)	V2036E	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Syt17	A	G	7: 118,036,040 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tcstv2a	G	T	13: 120,725,579 (GRCm39)	R81L	probably benign	Het
Tecrl	A	G	5: 83,461,134 (GRCm39)	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018 (GRCm39)	F409L	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Ttc23	G	A	7: 67,319,904 (GRCm39)	R187Q	probably benign	Het
Ttl	T	C	2: 128,923,977 (GRCm39)	V230A	probably benign	Het
Ube2u	G	A	4: 100,338,843 (GRCm39)	W36*	probably null	Het
Ube4a	A	T	9: 44,857,830 (GRCm39)		probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc45a	A	G	7: 79,982,728 (GRCm39)	I399T	possibly damaging	Het
Utp25	C	T	1: 192,812,445 (GRCm39)	R5Q	possibly damaging	Het
Wdr59	A	C	8: 112,193,419 (GRCm39)		probably null	Het
Zfp24	A	G	18: 24,151,172 (GRCm39)		probably benign	Het
Zfp777	A	T	6: 48,019,041 (GRCm39)	W342R	probably damaging	Het
Zfp979	A	T	4: 147,697,913 (GRCm39)	C265*	probably null	Het
Zzef1	T	A	11: 72,804,157 (GRCm39)	L2633Q	probably damaging	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
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
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'- CAATCAAGTTCTTGGCCTGGG -3'
(R):5'- TCACTGAGAGGCCCCATTTG -3'

Sequencing Primer
(F):5'- TGCTGTCACCACTGGGGATG -3'
(R):5'- ATTTGCCCGGCACTGAG -3'

Posted On

2015-07-21