Mutagenetix > Incidental Mutation

Incidental Mutation 'R7512:Impdh1'

582146

Institutional Source

Beutler Lab

Gene Symbol

Impdh1

Ensembl Gene

ENSMUSG00000003500

Gene Name

inosine monophosphate dehydrogenase 1

Synonyms

B930086D20Rik

MMRRC Submission

045585-MU

Accession Numbers

Essential gene?

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

Stock #

R7512 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29200435-29216363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29207168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 59 (I59V)

Ref Sequence

ENSEMBL: ENSMUSP00000077289 (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: I59V

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: I59V

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: I59V

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: I59V

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
AA Change: I59V

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125488
Gene: ENSMUSG00000003500
AA Change: I59V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160878
AA Change: I59V

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: I59V

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
AA Change: I59V

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: I59V

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: I59V

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125235
Gene: ENSMUSG00000003500
AA Change: I59V

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: I83V

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

0.1756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,829,275 (GRCm39)	A1395T	probably benign	Het
Ank3	A	G	10: 69,826,691 (GRCm39)	K1787E		Het
Atg2a	C	T	19: 6,310,106 (GRCm39)	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,187,457 (GRCm39)	I1637V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Ccnt2	T	A	1: 127,730,031 (GRCm39)	S303T	possibly damaging	Het
Cdh3	C	T	8: 107,265,640 (GRCm39)	Q228*	probably null	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dock2	A	C	11: 34,262,542 (GRCm39)	C938G	possibly damaging	Het
Dync1i1	G	T	6: 5,969,410 (GRCm39)	V412L	possibly damaging	Het
Eif1ad6	G	T	12: 87,668,751 (GRCm39)	E128*	probably null	Het
Entrep2	C	T	7: 64,805,918 (GRCm39)	A52T	probably benign	Het
Fam185a	G	A	5: 21,652,356 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,169,507 (GRCm39)	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406 (GRCm39)	R181H	possibly damaging	Het
Gen1	A	G	12: 11,310,977 (GRCm39)	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,806,717 (GRCm39)	I158K	probably benign	Het
Gm5624	T	C	14: 44,799,312 (GRCm39)	R82G		Het
Grap2	A	C	15: 80,532,754 (GRCm39)	N307T	probably benign	Het
H6pd	A	G	4: 150,080,405 (GRCm39)	F147L	probably benign	Het
Haspin	A	T	11: 73,027,418 (GRCm39)	I557N	probably damaging	Het
Hectd4	A	T	5: 121,435,172 (GRCm39)	K961N	possibly damaging	Het
Helz2	A	G	2: 180,872,647 (GRCm39)	M2495T	probably benign	Het
Helz2	A	T	2: 180,877,393 (GRCm39)		probably null	Het
Kcnn1	A	T	8: 71,307,293 (GRCm39)	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,590,977 (GRCm39)	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,929,001 (GRCm39)	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,518,859 (GRCm39)	C50*	probably null	Het
Lat2	T	A	5: 134,634,798 (GRCm39)	D114V	probably damaging	Het
Lrrc41	A	G	4: 115,950,191 (GRCm39)	T535A	possibly damaging	Het
Ly75	A	T	2: 60,164,907 (GRCm39)	V757D	probably damaging	Het
Masp1	C	A	16: 23,288,874 (GRCm39)	R642L	probably damaging	Het
Morn3	A	G	5: 123,175,343 (GRCm39)		probably null	Het
Mpl	A	T	4: 118,306,089 (GRCm39)	I384N		Het
Mtmr14	C	T	6: 113,245,652 (GRCm39)	Q409*	probably null	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Oit3	T	C	10: 59,274,716 (GRCm39)	Y28C	probably damaging	Het
Or2z8	T	A	8: 72,812,367 (GRCm39)	I281N	probably damaging	Het
Or4x12-ps1	A	G	2: 89,916,040 (GRCm39)	I255T	possibly damaging	Het
Or5ac22	T	A	16: 59,135,390 (GRCm39)	N127Y	probably damaging	Het
Pcdh15	T	C	10: 74,477,214 (GRCm39)	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,815,418 (GRCm39)	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,355,675 (GRCm39)	R1062*	probably null	Het
Pds5b	T	C	5: 150,711,807 (GRCm39)	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,150,953 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 101,052,532 (GRCm39)	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,574,780 (GRCm39)	T413I	possibly damaging	Het
Rora	C	A	9: 69,281,367 (GRCm39)	D382E	probably benign	Het
Sacs	T	A	14: 61,441,879 (GRCm39)	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192 (GRCm39)	D218N	possibly damaging	Het
Slc34a3	A	T	2: 25,122,253 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,589,074 (GRCm39)	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,661,209 (GRCm39)	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,688,364 (GRCm39)	N1298S	possibly damaging	Het
Sort1	T	A	3: 108,233,323 (GRCm39)		probably null	Het
Spata13	T	C	14: 60,989,226 (GRCm39)	L964P	probably damaging	Het
Spata31h1	G	A	10: 82,128,469 (GRCm39)	L1514F	probably benign	Het
Trav7-6	C	A	14: 53,954,552 (GRCm39)	D47E	probably benign	Het
Ubap2l	A	G	3: 89,917,803 (GRCm39)	F864L	unknown	Het
Vmn2r102	C	T	17: 19,914,363 (GRCm39)	P643S	probably damaging	Het
Zfp112	T	A	7: 23,824,604 (GRCm39)	C195S	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
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'- CCAATTCCTCCCATGAGCTG -3'
(R):5'- CTCAACTGAAGTGACCTTGCC -3'

Sequencing Primer
(F):5'- TCCTCCCATGAGCTGGTATAGAAG -3'
(R):5'- AAGTGACCTTGCCCATGTG -3'

Posted On

2019-10-17