Mutagenetix > Incidental Mutation

Incidental Mutation 'R8681:Mdh1b'

661721

Institutional Source

Beutler Lab

Gene Symbol

Mdh1b

Ensembl Gene

ENSMUSG00000025963

Gene Name

malate dehydrogenase 1B, NAD (soluble)

Synonyms

1700124B08Rik

MMRRC Submission

068536-MU

Accession Numbers

Essential gene?

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

Stock #

R8681 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63737978-63769477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63754360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 403 (M403L)

Ref Sequence

ENSEMBL: ENSMUSP00000109728 (fasta)

Gene Model

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

AlphaFold

Q5F204

Predicted Effect

probably benign
Transcript: ENSMUST00000114094
AA Change: M403L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963
AA Change: M403L

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,231,908 (GRCm39)	V1347A	possibly damaging	Het
Adam32	G	A	8: 25,327,811 (GRCm39)	T750I	unknown	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Aebp1	A	G	11: 5,817,899 (GRCm39)	D438G	probably null	Het
Anks1b	T	A	10: 89,885,868 (GRCm39)	M188K	probably damaging	Het
Aopep	T	C	13: 63,338,373 (GRCm39)	F583S	probably damaging	Het
Arhgef18	A	G	8: 3,439,074 (GRCm39)	Y477C	unknown	Het
Cep112	T	C	11: 108,316,478 (GRCm39)		probably null	Het
Clu	T	C	14: 66,218,406 (GRCm39)	V422A	probably damaging	Het
Cntrl	T	C	2: 35,038,600 (GRCm39)	L1050P	probably damaging	Het
Col23a1	A	T	11: 51,458,756 (GRCm39)	T298S	possibly damaging	Het
Cyp26c1	A	T	19: 37,675,065 (GRCm39)	T129S	probably damaging	Het
Cyp2c38	A	C	19: 39,390,135 (GRCm39)	V355G	possibly damaging	Het
Cyp4a30b	G	A	4: 115,314,942 (GRCm39)	V175M	possibly damaging	Het
Cyp7a1	A	T	4: 6,271,207 (GRCm39)	N316K	probably benign	Het
Dcaf17	T	A	2: 70,886,913 (GRCm39)	Y67*	probably null	Het
Dll3	T	C	7: 27,994,270 (GRCm39)	D389G	probably damaging	Het
Fbxo33	A	G	12: 59,265,830 (GRCm39)	F146L	probably benign	Het
Gm10118	C	T	10: 63,762,756 (GRCm39)	V61M	unknown	Het
Gm9611	T	C	14: 42,118,026 (GRCm39)	D102G		Het
Grik5	G	A	7: 24,709,897 (GRCm39)	A946V	probably benign	Het
Il17c	A	G	8: 123,150,207 (GRCm39)	D150G	possibly damaging	Het
Ino80e	A	G	7: 126,460,893 (GRCm39)	L22P	probably damaging	Het
Kcnh2	G	T	5: 24,536,981 (GRCm39)	T201K	probably benign	Het
Klrb1	A	C	6: 128,687,012 (GRCm39)	N173K	possibly damaging	Het
Kmt2d	T	A	15: 98,743,948 (GRCm39)	Q3737H	unknown	Het
Lemd3	T	C	10: 120,767,728 (GRCm39)	D682G	possibly damaging	Het
Lilra5	T	C	7: 4,241,216 (GRCm39)	V51A	probably benign	Het
Lrrc25	G	A	8: 71,070,314 (GRCm39)	V32I	possibly damaging	Het
Mms19	G	A	19: 41,937,915 (GRCm39)	L765F	probably damaging	Het
Msx3	T	A	7: 139,628,900 (GRCm39)	T5S	probably benign	Het
Myh13	A	C	11: 67,242,960 (GRCm39)	I958L	possibly damaging	Het
Myo18b	T	A	5: 113,021,429 (GRCm39)		probably null	Het
Myo9a	G	A	9: 59,775,394 (GRCm39)	V1002I	probably benign	Het
Neb	T	C	2: 52,127,048 (GRCm39)	K379R	probably damaging	Het
Nsmce2	A	G	15: 59,473,208 (GRCm39)	S216G	probably benign	Het
Odad1	A	G	7: 45,591,263 (GRCm39)	E246G	probably damaging	Het
Or11h7	A	T	14: 50,890,801 (GRCm39)	M36L	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pkp2	A	T	16: 16,048,545 (GRCm39)	M317L	probably benign	Het
Pogz	T	A	3: 94,768,234 (GRCm39)	H137Q	probably damaging	Het
Prrx2	G	T	2: 30,735,519 (GRCm39)	D25Y	unknown	Het
Ptprf	T	C	4: 118,088,844 (GRCm39)	D653G	probably benign	Het
Rps6kl1	T	A	12: 85,194,629 (GRCm39)	E94V	probably damaging	Het
Slc44a1	A	T	4: 53,481,510 (GRCm39)	D27V	probably damaging	Het
Slc44a4	A	G	17: 35,147,253 (GRCm39)	I549V	possibly damaging	Het
Slc8a3	T	C	12: 81,361,914 (GRCm39)	T302A	probably benign	Het
Spic	T	A	10: 88,511,847 (GRCm39)	K136N	possibly damaging	Het
Stk36	T	C	1: 74,661,392 (GRCm39)	L473P	probably damaging	Het
Syce1	G	A	7: 140,361,987 (GRCm39)	T32I	possibly damaging	Het
Tars2	G	A	3: 95,658,199 (GRCm39)	Q209*	probably null	Het
Tmem9b	A	G	7: 109,344,527 (GRCm39)	V100A	probably benign	Het
Vmn1r67	A	G	7: 10,181,128 (GRCm39)	I131V	probably benign	Het
Vmn2r26	C	T	6: 124,001,877 (GRCm39)	T54I	probably benign	Het
Zfp142	T	C	1: 74,610,747 (GRCm39)	E1016G	probably damaging	Het
Zfp773	T	C	7: 7,139,482 (GRCm39)	T56A	possibly damaging	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
R5311:Mdh1b	UTSW	1	63,759,163 (GRCm39)	missense	probably benign	0.00
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
Z1176:Mdh1b	UTSW	1	63,750,690 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTGTAATCCCTTGTCTGTC -3'
(R):5'- AGTTTTAGGGCTCAGAGGACC -3'

Sequencing Primer
(F):5'- GTGTAATCCCTTGTCTGTCTTTCTAG -3'
(R):5'- CCATCCCTCTCTCTATTGTGAAAC -3'

Posted On

2021-03-08