Mutagenetix > Incidental Mutation

Incidental Mutation 'R7969:Impdh2'

650509

Institutional Source

Beutler Lab

Gene Symbol

Impdh2

Ensembl Gene

ENSMUSG00000062867

Gene Name

inosine monophosphate dehydrogenase 2

Synonyms

IMP dehydrogenase type II

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108560286-108565584 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 108562306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 153 (R153*)

Ref Sequence

ENSEMBL: ENSMUSP00000079888 (fasta)

Gene Model

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

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: ENSMUST00000074208

SMART Domains

Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283

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

Predicted Effect

probably null
Transcript: ENSMUST00000081111
AA Change: R153*

SMART Domains

Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: R153*

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

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

probably null
Transcript: ENSMUST00000193421
AA Change: R128*

SMART Domains

Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867
AA Change: R128*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194904

SMART Domains

Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Ahcyl2	T	A	6: 29,870,664	I193N	probably damaging	Het
Amotl2	C	T	9: 102,723,769	T345I	probably benign	Het
Atf6b	A	T	17: 34,648,575		probably null	Het
Cacna1s	T	G	1: 136,076,732	F337C	probably damaging	Het
Cep85l	T	C	10: 53,298,184	I488V	probably damaging	Het
Cmas	T	A	6: 142,775,166	D375E	probably damaging	Het
Cnga4	T	C	7: 105,406,046	F279S	probably damaging	Het
Cyp4f37	T	C	17: 32,625,207	V95A	probably benign	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Dlg2	T	C	7: 92,417,258	F235S	probably benign	Het
Dmxl2	T	C	9: 54,446,881	D427G	possibly damaging	Het
Efl1	T	C	7: 82,692,970	Y529H	probably benign	Het
Epx	C	T	11: 87,872,721	M224I	probably benign	Het
Fetub	A	G	16: 22,929,699	R101G	possibly damaging	Het
Fubp1	T	A	3: 152,222,246		probably null	Het
Kcnj12	C	T	11: 61,069,604	Q243*	probably null	Het
Lrrn1	T	A	6: 107,567,850	V203E	probably damaging	Het
Meikin	T	C	11: 54,409,710	S338P	possibly damaging	Het
Myl10	A	T	5: 136,700,853		probably null	Het
Nt5c3b	T	C	11: 100,434,741	K120E	possibly damaging	Het
Olfr118	T	A	17: 37,672,656	L211H	probably damaging	Het
Olfr790	T	C	10: 129,501,847	L313S	probably benign	Het
Olfr802	G	A	10: 129,681,830	T303I	probably benign	Het
Olfr93	T	A	17: 37,151,186	N262I	possibly damaging	Het
Pdzd7	A	G	19: 45,036,225	S452P	probably benign	Het
Prune2	A	G	19: 17,201,670	I2982V	probably damaging	Het
Ptpdc1	G	A	13: 48,587,101	R285C	probably damaging	Het
Raf1	T	C	6: 115,620,288	D486G	probably damaging	Het
Rbm27	A	T	18: 42,275,480		probably benign	Het
Slit2	A	G	5: 48,304,036	Y1475C	possibly damaging	Het
Snx14	G	A	9: 88,413,560	T184M	probably damaging	Het
Tgm5	G	T	2: 121,075,169	N168K	probably damaging	Het
Ugt2b38	A	G	5: 87,424,032	V47A	probably benign	Het
Ush2a	A	G	1: 188,826,371	H3599R	probably benign	Het
Veph1	T	C	3: 66,215,475	E211G	possibly damaging	Het
Wapl	T	A	14: 34,730,647	H832Q	probably damaging	Het
Zfp281	T	A	1: 136,626,034	V250D	probably benign	Het
Zfp36l2	A	G	17: 84,185,824	S462P	unknown	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
R4273:Impdh2	UTSW	9	108564956	missense	probably damaging	1.00
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
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'- CCTTTAGAACAGGGGCCTGATG -3'
(R):5'- ACATAGCTGAGCATTTTCCTTGG -3'

Sequencing Primer
(F):5'- GGGCCTGATGACAGTGATATC -3'
(R):5'- CTGAGCATTTTCCTTGGACAGG -3'

Posted On

2020-09-15