Mutagenetix > Incidental Mutation

Incidental Mutation 'R5311:Mdh1b'

404825

Institutional Source

Beutler Lab

Gene Symbol

Mdh1b

Ensembl Gene

ENSMUSG00000025963

Gene Name

malate dehydrogenase 1B, NAD (soluble)

Synonyms

1700124B08Rik

MMRRC Submission

042894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5311 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63737978-63769477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63759163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 143 (V143A)

Ref Sequence

ENSEMBL: ENSMUSP00000109728 (fasta)

Gene Model

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

AlphaFold

Q5F204

Predicted Effect

probably benign
Transcript: ENSMUST00000114094
AA Change: V143A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963
AA Change: V143A

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5z1	A	G	5: 142,453,442 (GRCm39)	K137E	possibly damaging	Het
Atm	A	C	9: 53,429,923 (GRCm39)	V371G	probably benign	Het
Cacna2d3	A	G	14: 29,068,987 (GRCm39)	Y247H	probably damaging	Het
Ccdc180	T	C	4: 45,917,556 (GRCm39)	V927A	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Edar	G	A	10: 58,443,257 (GRCm39)	P290S	possibly damaging	Het
Ext2	T	C	2: 93,526,606 (GRCm39)	I677V	probably benign	Het
Fam53a	A	G	5: 33,765,080 (GRCm39)	S209P	probably damaging	Het
Fshr	A	T	17: 89,318,441 (GRCm39)		probably null	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gm14295	A	T	2: 176,502,465 (GRCm39)	I652L	probably benign	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Gm5431	T	A	11: 48,779,716 (GRCm39)	E402V	probably damaging	Het
Gm6899	GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC	GGAGGCCGCCCAGTGGCAGAGGC	11: 26,543,725 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,115,346 (GRCm39)	D342G	probably benign	Het
Lgi2	A	T	5: 52,711,827 (GRCm39)	D164E	probably damaging	Het
Lrriq1	A	G	10: 103,050,448 (GRCm39)	I768T	probably damaging	Het
Map1a	C	A	2: 121,132,868 (GRCm39)	A990E	probably damaging	Het
Mrgprb3	C	T	7: 48,293,059 (GRCm39)	C164Y	probably damaging	Het
Mtpap	T	A	18: 4,386,328 (GRCm39)	V316E	probably damaging	Het
Mybpc3	T	A	2: 90,959,023 (GRCm39)	C655*	probably null	Het
Myh15	A	G	16: 48,986,204 (GRCm39)	E1558G	possibly damaging	Het
Mylk	A	G	16: 34,742,127 (GRCm39)	T880A	probably benign	Het
Nckap1	T	A	2: 80,370,466 (GRCm39)	D408V	probably damaging	Het
Nos3	A	T	5: 24,582,343 (GRCm39)	H605L	probably benign	Het
Nrxn2	C	A	19: 6,581,428 (GRCm39)	D411E	probably benign	Het
Or1af1	T	C	2: 37,109,633 (GRCm39)	V44A	probably benign	Het
Or8j3b	T	A	2: 86,205,094 (GRCm39)	I221L	possibly damaging	Het
Pde4d	C	A	13: 109,769,398 (GRCm39)	P29T	probably benign	Het
Pde4d	C	T	13: 109,769,399 (GRCm39)	P29L	probably benign	Het
Pkhd1	A	G	1: 20,636,094 (GRCm39)	V412A	possibly damaging	Het
Rev1	T	A	1: 38,118,474 (GRCm39)	I480L	probably benign	Het
Rimbp3	A	G	16: 17,028,708 (GRCm39)	T711A	probably benign	Het
RP23-191E1.1	T	A	3: 106,204,784 (GRCm39)		noncoding transcript	Het
Serpina11	A	T	12: 103,952,221 (GRCm39)	I183N	probably damaging	Het
Siglec1	T	C	2: 130,921,236 (GRCm39)	H645R	probably damaging	Het
Skint7	G	A	4: 111,837,501 (GRCm39)	R93H	probably damaging	Het
Slfn8	T	C	11: 82,894,910 (GRCm39)	E632G	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Trps1	G	A	15: 50,528,156 (GRCm39)	T658I	probably damaging	Het
Ubash3a	A	G	17: 31,438,691 (GRCm39)	T287A	probably damaging	Het
Ugt2b35	G	A	5: 87,159,139 (GRCm39)	W444*	probably null	Het
Vmn1r219	T	A	13: 23,347,063 (GRCm39)	V84D	probably damaging	Het
Vmn2r10	T	C	5: 109,154,121 (GRCm39)	Y61C	probably damaging	Het
Vmn2r104	G	A	17: 20,250,163 (GRCm39)	P703S	probably damaging	Het
Wdsub1	T	A	2: 59,708,873 (GRCm39)		probably benign	Het
Zfp667	A	G	7: 6,308,715 (GRCm39)	Q461R	probably benign	Het
Zfp941	C	A	7: 140,391,872 (GRCm39)	G496*	probably null	Het

Other mutations in Mdh1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01694:Mdh1b	APN	1	63,750,265 (GRCm39)	splice site	probably benign
IGL02314:Mdh1b	APN	1	63,750,273 (GRCm39)	critical splice donor site	probably null
IGL02390:Mdh1b	APN	1	63,760,716 (GRCm39)	missense	probably benign	0.27
IGL02582:Mdh1b	APN	1	63,758,756 (GRCm39)	missense	probably benign	0.08
IGL02864:Mdh1b	APN	1	63,760,762 (GRCm39)	missense	probably benign	0.00
IGL02887:Mdh1b	APN	1	63,754,523 (GRCm39)	splice site	probably benign
IGL03073:Mdh1b	APN	1	63,760,646 (GRCm39)	critical splice donor site	probably null
IGL03372:Mdh1b	APN	1	63,759,154 (GRCm39)	missense	possibly damaging	0.64
IGL02835:Mdh1b	UTSW	1	63,757,816 (GRCm39)	missense	probably damaging	1.00
R0015:Mdh1b	UTSW	1	63,760,959 (GRCm39)	splice site	probably benign
R0015:Mdh1b	UTSW	1	63,760,959 (GRCm39)	splice site	probably benign
R0255:Mdh1b	UTSW	1	63,758,777 (GRCm39)	missense	probably damaging	1.00
R1750:Mdh1b	UTSW	1	63,758,681 (GRCm39)	missense	probably benign
R2057:Mdh1b	UTSW	1	63,760,741 (GRCm39)	missense	probably benign	0.11
R3177:Mdh1b	UTSW	1	63,750,690 (GRCm39)	missense	possibly damaging	0.93
R3277:Mdh1b	UTSW	1	63,750,690 (GRCm39)	missense	possibly damaging	0.93
R3522:Mdh1b	UTSW	1	63,758,927 (GRCm39)	missense	probably damaging	0.97
R4938:Mdh1b	UTSW	1	63,750,663 (GRCm39)	missense	probably benign	0.00
R4967:Mdh1b	UTSW	1	63,759,022 (GRCm39)	missense	probably damaging	1.00
R5093:Mdh1b	UTSW	1	63,750,620 (GRCm39)	missense	probably benign	0.08
R5160:Mdh1b	UTSW	1	63,764,804 (GRCm39)	missense	probably null	0.01
R6345:Mdh1b	UTSW	1	63,754,398 (GRCm39)	missense	possibly damaging	0.52
R6974:Mdh1b	UTSW	1	63,760,975 (GRCm39)	missense	probably benign	0.00
R7073:Mdh1b	UTSW	1	63,760,719 (GRCm39)	missense	probably damaging	1.00
R7728:Mdh1b	UTSW	1	63,754,429 (GRCm39)	missense	probably benign	0.23
R7780:Mdh1b	UTSW	1	63,759,133 (GRCm39)	missense	possibly damaging	0.76
R8271:Mdh1b	UTSW	1	63,759,164 (GRCm39)	missense	possibly damaging	0.62
R8556:Mdh1b	UTSW	1	63,750,141 (GRCm39)	splice site	probably null
R8681:Mdh1b	UTSW	1	63,754,360 (GRCm39)	missense	probably benign
Z1176:Mdh1b	UTSW	1	63,750,690 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTTACCGTGGTGCAGAAGG -3'
(R):5'- AATCATCTTTCAGAGCACATGC -3'

Sequencing Primer
(F):5'- TGCAGAAGGACACAGTGC -3'
(R):5'- AACTTTATATGCCCCGGTACAGG -3'

Posted On

2016-07-22