Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Impdh2'

322281

Institutional Source

Beutler Lab

Gene Symbol

Impdh2

Ensembl Gene

ENSMUSG00000062867

Gene Name

inosine monophosphate dehydrogenase 2

Synonyms

IMP dehydrogenase type II

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108560286-108565584 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108564956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 414 (M414T)

Ref Sequence

ENSEMBL: ENSMUSP00000079888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006851] [ENSMUST00000019183] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000112155] [ENSMUST00000194904] [ENSMUST00000195249] [ENSMUST00000193421] [ENSMUST00000194381]

AlphaFold

P24547

Predicted Effect

probably benign
Transcript: ENSMUST00000006851

SMART Domains

Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
low complexity region	419	443	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC
Pfam:DUF3504	597	761	1.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019183

SMART Domains

Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039

Domain	Start	End	E-Value	Type
low complexity region	288	301	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
DALR_1	399	538	2.09e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074208

SMART Domains

Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283

Domain	Start	End	E-Value	Type
Pfam:DUF498	61	169	9.3e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000081111
AA Change: M414T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: M414T

Domain	Start	End	E-Value	Type
IMPDH	28	504	7.39e-260	SMART
CBS	117	168	9.4e-7	SMART
CBS	184	232	1.57e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083645

Predicted Effect

probably benign
Transcript: ENSMUST00000112155

SMART Domains

Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
low complexity region	419	443	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC
Pfam:DUF3504	600	760	2.3e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193242

Predicted Effect

probably damaging
Transcript: ENSMUST00000194904
AA Change: M232T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867
AA Change: M232T

Domain	Start	End	E-Value	Type
IMPDH	1	319	5e-122	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195456

Predicted Effect

probably benign
Transcript: ENSMUST00000195249

Predicted Effect

probably benign
Transcript: ENSMUST00000193421

SMART Domains

Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	28	248	1.3e-18	SMART
CBS	92	143	4.5e-9	SMART
CBS	159	207	7.6e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194381

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities resulting in embryonic lethality around the time of implantation. [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
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Brd4	G	A	17: 32,214,782	T468I	probably benign	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 70,766,043	S686T	probably benign	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fmo4	A	G	1: 162,805,179	V201A	probably damaging	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,726,731	Q376R	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Mvp	C	T	7: 126,989,703	A631T	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tas1r1	T	C	4: 152,032,157	E340G	possibly damaging	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp229	T	A	17: 21,746,821	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp52	C	A	17: 21,560,197	Y102*	probably null	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,697,690	Y203C	probably damaging	Het

Other mutations in Impdh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0032:Impdh2	UTSW	9	108561661	missense	probably damaging	1.00
R0523:Impdh2	UTSW	9	108561819	splice site	probably null
R0523:Impdh2	UTSW	9	108561820	missense	possibly damaging	0.80
R0644:Impdh2	UTSW	9	108563637	missense	possibly damaging	0.56
R0648:Impdh2	UTSW	9	108563466	missense	probably benign	0.01
R0905:Impdh2	UTSW	9	108561097	unclassified	probably benign
R1173:Impdh2	UTSW	9	108561829	missense	probably benign	0.19
R1202:Impdh2	UTSW	9	108563187	missense	probably damaging	1.00
R1441:Impdh2	UTSW	9	108564776	missense	probably benign	0.12
R1818:Impdh2	UTSW	9	108563212	splice site	probably null
R2141:Impdh2	UTSW	9	108565347	missense	possibly damaging	0.50
R2173:Impdh2	UTSW	9	108565394	splice site	probably null
R2438:Impdh2	UTSW	9	108560616	missense	probably benign	0.06
R4061:Impdh2	UTSW	9	108562804	missense	possibly damaging	0.46
R4847:Impdh2	UTSW	9	108564671	missense	probably damaging	1.00
R4847:Impdh2	UTSW	9	108565515	missense	probably benign	0.00
R5073:Impdh2	UTSW	9	108563336	critical splice donor site	probably null
R5896:Impdh2	UTSW	9	108563966	missense	probably benign	0.06
R6315:Impdh2	UTSW	9	108563439	missense	possibly damaging	0.66
R7172:Impdh2	UTSW	9	108560610	missense	probably benign	0.00
R7182:Impdh2	UTSW	9	108563208	missense	possibly damaging	0.56
R7241:Impdh2	UTSW	9	108563437	missense	possibly damaging	0.78
R7640:Impdh2	UTSW	9	108565181	missense	possibly damaging	0.84
R7969:Impdh2	UTSW	9	108562306	nonsense	probably null
R8079:Impdh2	UTSW	9	108563325	missense	probably benign	0.01
R8728:Impdh2	UTSW	9	108560363	unclassified	probably benign
R8735:Impdh2	UTSW	9	108564779	critical splice donor site	probably null
R8821:Impdh2	UTSW	9	108564758	missense	probably damaging	0.99
R8831:Impdh2	UTSW	9	108564758	missense	probably damaging	0.99
R9355:Impdh2	UTSW	9	108565203	missense	probably benign	0.35
R9697:Impdh2	UTSW	9	108561648	missense	possibly damaging	0.86
X0066:Impdh2	UTSW	9	108561787	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- ATGTGGGTCATATTGCCAAAGC -3'
(R):5'- AAACTCCTTGGGCCACTTTG -3'

Sequencing Primer
(F):5'- TGGGGCTTCCACAGGTAAG -3'
(R):5'- GGCCACTTTGATTTTGTCAGC -3'

Posted On

2015-06-20