Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Mdh1b'

258244

Institutional Source

Beutler Lab

Gene Symbol

Mdh1b

Ensembl Gene

ENSMUSG00000025963

Gene Name

malate dehydrogenase 1B, NAD (soluble)

Synonyms

1700124B08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63698819-63730318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63711531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 426 (T426M)

Ref Sequence

ENSEMBL: ENSMUSP00000109728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114094]

AlphaFold

Q5F204

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114094
AA Change: T426M

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963
AA Change: T426M

Domain	Start	End	E-Value	Type
low complexity region	69	81	N/A	INTRINSIC
SCOP:d1b8pa1	131	282	1e-16	SMART
PDB:5MDH\|B	131	457	3e-32	PDB
SCOP:d7mdha2	290	454	7e-18	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100 (GRCm38)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627 (GRCm38)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159 (GRCm38)	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124 (GRCm38)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390 (GRCm38)	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676 (GRCm38)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652 (GRCm38)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192 (GRCm38)	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359 (GRCm38)	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964 (GRCm38)		probably null	Het
Cyp4f18	T	C	8: 71,993,200 (GRCm38)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993 (GRCm38)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217 (GRCm38)	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116 (GRCm38)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm38)		probably null	Het
Fbxw2	T	C	2: 34,822,750 (GRCm38)	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661 (GRCm38)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888 (GRCm38)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224 (GRCm38)	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982 (GRCm38)	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380 (GRCm38)	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728 (GRCm38)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315 (GRCm38)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510 (GRCm38)	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428 (GRCm38)	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891 (GRCm38)	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835 (GRCm38)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413 (GRCm38)	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680 (GRCm38)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681 (GRCm38)		probably null	Het
Itgad	C	A	7: 128,190,981 (GRCm38)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542 (GRCm38)	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756 (GRCm38)	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625 (GRCm38)	G448C	probably damaging	Het
Ltbp1	T	A	17: 75,359,278 (GRCm38)		probably null	Het
Ltbp1	G	A	17: 75,276,480 (GRCm38)	G425D	possibly damaging	Het
Mag	C	T	7: 30,901,648 (GRCm38)		probably null	Het
Nr1h4	G	A	10: 89,478,788 (GRCm38)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752 (GRCm38)	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218 (GRCm38)	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813 (GRCm38)	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576 (GRCm38)	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389 (GRCm38)	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208 (GRCm38)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264 (GRCm38)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079 (GRCm38)	L294F	probably benign	Het
Radil	A	G	5: 142,506,856 (GRCm38)	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277 (GRCm38)	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987 (GRCm38)		probably null	Het
Rxrg	A	G	1: 167,635,700 (GRCm38)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879 (GRCm38)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601 (GRCm38)	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598 (GRCm38)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232 (GRCm38)	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695 (GRCm38)	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759 (GRCm38)		probably null	Het
Wrn	A	G	8: 33,317,554 (GRCm38)	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331 (GRCm38)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346 (GRCm38)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270 (GRCm38)	T51A	possibly damaging	Het

Other mutations in Mdh1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01694:Mdh1b	APN	1	63,711,106 (GRCm38)	splice site	probably benign
IGL02314:Mdh1b	APN	1	63,711,114 (GRCm38)	critical splice donor site	probably null
IGL02390:Mdh1b	APN	1	63,721,557 (GRCm38)	missense	probably benign	0.27
IGL02582:Mdh1b	APN	1	63,719,597 (GRCm38)	missense	probably benign	0.08
IGL02864:Mdh1b	APN	1	63,721,603 (GRCm38)	missense	probably benign	0.00
IGL02887:Mdh1b	APN	1	63,715,364 (GRCm38)	splice site	probably benign
IGL03073:Mdh1b	APN	1	63,721,487 (GRCm38)	critical splice donor site	probably null
IGL03372:Mdh1b	APN	1	63,719,995 (GRCm38)	missense	possibly damaging	0.64
IGL02835:Mdh1b	UTSW	1	63,718,657 (GRCm38)	missense	probably damaging	1.00
R0015:Mdh1b	UTSW	1	63,721,800 (GRCm38)	splice site	probably benign
R0015:Mdh1b	UTSW	1	63,721,800 (GRCm38)	splice site	probably benign
R0255:Mdh1b	UTSW	1	63,719,618 (GRCm38)	missense	probably damaging	1.00
R1750:Mdh1b	UTSW	1	63,719,522 (GRCm38)	missense	probably benign
R2057:Mdh1b	UTSW	1	63,721,582 (GRCm38)	missense	probably benign	0.11
R3177:Mdh1b	UTSW	1	63,711,531 (GRCm38)	missense	possibly damaging	0.93
R3522:Mdh1b	UTSW	1	63,719,768 (GRCm38)	missense	probably damaging	0.97
R4938:Mdh1b	UTSW	1	63,711,504 (GRCm38)	missense	probably benign	0.00
R4967:Mdh1b	UTSW	1	63,719,863 (GRCm38)	missense	probably damaging	1.00
R5093:Mdh1b	UTSW	1	63,711,461 (GRCm38)	missense	probably benign	0.08
R5160:Mdh1b	UTSW	1	63,725,645 (GRCm38)	missense	probably null	0.01
R5311:Mdh1b	UTSW	1	63,720,004 (GRCm38)	missense	probably benign	0.00
R6345:Mdh1b	UTSW	1	63,715,239 (GRCm38)	missense	possibly damaging	0.52
R6974:Mdh1b	UTSW	1	63,721,816 (GRCm38)	missense	probably benign	0.00
R7073:Mdh1b	UTSW	1	63,721,560 (GRCm38)	missense	probably damaging	1.00
R7728:Mdh1b	UTSW	1	63,715,270 (GRCm38)	missense	probably benign	0.23
R7780:Mdh1b	UTSW	1	63,719,974 (GRCm38)	missense	possibly damaging	0.76
R8271:Mdh1b	UTSW	1	63,720,005 (GRCm38)	missense	possibly damaging	0.62
R8556:Mdh1b	UTSW	1	63,710,982 (GRCm38)	splice site	probably null
R8681:Mdh1b	UTSW	1	63,715,201 (GRCm38)	missense	probably benign
Z1176:Mdh1b	UTSW	1	63,711,531 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCTCAGAAAATCATGAGTGC -3'
(R):5'- ATGTGCTGGCTAACACCCTG -3'

Sequencing Primer
(F):5'- TCATGAGTGCCTTAGTCTACAG -3'
(R):5'- TGTGTGCACATGCGTACAC -3'

Posted On

2015-01-23