Mutagenetix > Incidental Mutation

Incidental Mutation 'R8556:Mdh1b'

673222

Institutional Source

Beutler Lab

Gene Symbol

Mdh1b

Ensembl Gene

ENSMUSG00000025963

Gene Name

malate dehydrogenase 1B, NAD (soluble)

Synonyms

1700124B08Rik

MMRRC Submission

068519-MU

Accession Numbers

Essential gene?

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

Stock #

R8556 (G1)

Quality Score

212.009

Status

Validated

Chromosome

Chromosomal Location

63737978-63769477 bp(-) (GRCm39)

Type of Mutation

splice site (133 bp from exon)

DNA Base Change (assembly)

A to C at 63750141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109728 (fasta)

Gene Model

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

AlphaFold

Q5F204

Predicted Effect

probably null
Transcript: ENSMUST00000114094

SMART Domains

Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	A	T	11: 69,904,376 (GRCm39)	M148K	probably benign	Het
Adcy2	T	C	13: 68,779,094 (GRCm39)	Y982C	possibly damaging	Het
Adgrl4	T	C	3: 151,216,302 (GRCm39)	I495T	probably damaging	Het
Ankfn1	A	T	11: 89,332,268 (GRCm39)	I426K	possibly damaging	Het
Birc6	T	G	17: 74,864,949 (GRCm39)	S236R	probably benign	Het
Cdan1	C	T	2: 120,553,471 (GRCm39)	V971M	probably damaging	Het
Col6a4	A	G	9: 105,944,252 (GRCm39)	F1074S	probably damaging	Het
Crk	A	G	11: 75,583,347 (GRCm39)	K189R	probably benign	Het
Dennd5b	A	G	6: 148,895,268 (GRCm39)	L1254P	probably damaging	Het
Dlec1	A	G	9: 118,955,289 (GRCm39)	T658A	probably benign	Het
Dock2	T	C	11: 34,212,457 (GRCm39)	D1228G	possibly damaging	Het
Dync2h1	T	C	9: 7,113,198 (GRCm39)	Y209C	probably benign	Het
Edem3	G	A	1: 151,660,586 (GRCm39)	V283I	possibly damaging	Het
Elavl1	A	G	8: 4,345,388 (GRCm39)	S202P	possibly damaging	Het
Eprs1	G	A	1: 185,152,485 (GRCm39)		probably null	Het
Esp31	A	T	17: 38,951,942 (GRCm39)	M1L	probably benign	Het
Eya4	G	A	10: 22,982,157 (GRCm39)	H601Y	probably damaging	Het
Gm6370	T	C	5: 146,430,702 (GRCm39)	S296P	probably benign	Het
Helz2	A	G	2: 180,871,350 (GRCm39)	V2754A	probably damaging	Het
Hgsnat	C	T	8: 26,443,308 (GRCm39)		probably null	Het
Hoxb6	G	T	11: 96,191,543 (GRCm39)	R155L	probably damaging	Het
Igkv6-17	T	C	6: 70,348,746 (GRCm39)	V39A	probably damaging	Het
Iqgap1	G	A	7: 80,375,787 (GRCm39)	L1363F	probably damaging	Het
Lcor	TCA	T	19: 41,546,863 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,382,136 (GRCm39)	S476P	probably damaging	Het
Muc16	T	A	9: 18,552,233 (GRCm39)	I4687L	probably benign	Het
Mylk3	T	C	8: 86,053,902 (GRCm39)	M672V	possibly damaging	Het
Nbea	A	G	3: 55,554,807 (GRCm39)	F2614L	probably benign	Het
Or4p8	A	T	2: 88,727,382 (GRCm39)	C186*	probably null	Het
Otop3	T	A	11: 115,235,782 (GRCm39)	D471E	probably benign	Het
Pds5b	G	A	5: 150,716,073 (GRCm39)	M1077I	probably benign	Het
Plppr5	T	A	3: 117,465,679 (GRCm39)	L310Q	probably benign	Het
Ptpn13	G	A	5: 103,707,038 (GRCm39)	E1416K	probably damaging	Het
Ptprj	A	G	2: 90,271,044 (GRCm39)	L1228P	probably damaging	Het
Rbm12	T	C	2: 155,938,481 (GRCm39)	D597G	probably damaging	Het
Ret	A	G	6: 118,146,149 (GRCm39)	F777L	probably damaging	Het
Rrbp1	A	T	2: 143,831,045 (GRCm39)	V374D	possibly damaging	Het
Scin	T	C	12: 40,127,593 (GRCm39)		probably null	Het
Serpina1a	T	A	12: 103,822,229 (GRCm39)	K234N	probably damaging	Het
Snx20	T	A	8: 89,356,661 (GRCm39)	M52L	probably benign	Het
Svs6	T	C	2: 164,159,485 (GRCm39)	S83P	possibly damaging	Het
Tdp1	T	C	12: 99,857,527 (GRCm39)	S29P	probably benign	Het
Tet1	T	C	10: 62,675,985 (GRCm39)	N697S	probably benign	Het
Trgc4	A	G	13: 19,528,952 (GRCm39)		probably benign	Het
Trpv3	A	G	11: 73,178,291 (GRCm39)	I453V	probably benign	Het
Trrap	T	C	5: 144,762,747 (GRCm39)	F2407L	probably benign	Het
Tsc22d4	T	C	5: 137,745,849 (GRCm39)	S158P	probably damaging	Het
Uaca	A	T	9: 60,777,923 (GRCm39)	K768M	probably damaging	Het
Wdr20rt	G	A	12: 65,273,739 (GRCm39)	V228I	probably benign	Het
Zbtb7b	T	C	3: 89,300,444 (GRCm39)		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
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
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'- ATGTGGCTACAGGTGCATGG -3'
(R):5'- GAGAAACTTGTTGCATGTGGAG -3'

Sequencing Primer
(F):5'- AAGACAGGCTTTCCAGTTGC -3'
(R):5'- GTGGAGACTTATTAACTTTTCAGCC -3'

Posted On

2021-05-07