Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Mdh1b'

267504

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 #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63698819-63730318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63719768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 222 (V222M)

Ref Sequence

ENSEMBL: ENSMUSP00000109728 (fasta)

Gene Model

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

AlphaFold

Q5F204

Predicted Effect

probably damaging
Transcript: ENSMUST00000114094
AA Change: V222M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963
AA Change: V222M

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

0.2435

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,549,626 (GRCm38)		probably null	Het
Ankrd35	A	G	3: 96,685,062 (GRCm38)	E888G	probably damaging	Het
Arhgef10	T	C	8: 14,954,918 (GRCm38)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,239,157 (GRCm38)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,763,043 (GRCm38)	V2A	possibly damaging	Het
Cand1	A	T	10: 119,239,197 (GRCm38)	L15Q	probably benign	Het
Cavin3	C	A	7: 105,481,143 (GRCm38)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,991,485 (GRCm38)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,250,410 (GRCm38)	K161E	probably damaging	Het
Chil4	A	T	3: 106,203,740 (GRCm38)	N279K	probably benign	Het
Chst13	T	G	6: 90,318,263 (GRCm38)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,099,368 (GRCm38)	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,702,493 (GRCm38)	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,871,193 (GRCm38)		probably null	Het
Dnah7a	A	C	1: 53,618,116 (GRCm38)	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,484,181 (GRCm38)	S182P	probably benign	Het
Fkbp5	T	C	17: 28,415,996 (GRCm38)	T180A	probably benign	Het
Flg2	T	A	3: 93,220,027 (GRCm38)	I2082N	unknown	Het
Gm4968	A	G	6: 127,233,762 (GRCm38)		noncoding transcript	Het
Gpc5	T	A	14: 116,524,335 (GRCm38)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,241,253 (GRCm38)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,744,114 (GRCm38)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,576,285 (GRCm38)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,457,685 (GRCm38)	S147R	probably benign	Het
Iqgap3	C	T	3: 88,090,782 (GRCm38)	A282V	probably null	Het
Jmy	T	C	13: 93,454,050 (GRCm38)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,374,923 (GRCm38)	R64C	probably damaging	Het
Kidins220	T	C	12: 24,990,758 (GRCm38)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,766,121 (GRCm38)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,639,531 (GRCm38)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,553,555 (GRCm38)	D3164G	probably damaging	Het
Mst1	T	C	9: 108,081,503 (GRCm38)		probably benign	Het
Myo7b	C	A	18: 32,010,079 (GRCm38)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,393,158 (GRCm38)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,944,027 (GRCm38)	D164G	probably damaging	Het
Nol11	C	T	11: 107,173,628 (GRCm38)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 25,706,614 (GRCm38)	N1208D	probably benign	Het
Nup155	C	T	15: 8,156,678 (GRCm38)		probably benign	Het
Olfr768	A	G	10: 129,093,842 (GRCm38)	I44T	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,785 (GRCm38)	T18A	probably damaging	Het
Olfr921	A	T	9: 38,775,720 (GRCm38)	D155V	possibly damaging	Het
Olfr988	A	T	2: 85,353,003 (GRCm38)	C308S	probably benign	Het
Phf3	A	G	1: 30,805,603 (GRCm38)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,448,906 (GRCm38)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,031,247 (GRCm38)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,337,353 (GRCm38)		probably null	Het
Ptgfrn	T	C	3: 101,043,402 (GRCm38)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,589,854 (GRCm38)		probably benign	Het
Pygb	G	T	2: 150,828,553 (GRCm38)	V763F	probably benign	Het
Ros1	A	C	10: 52,090,995 (GRCm38)	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,893,216 (GRCm38)	F5L	probably benign	Het
Skint5	A	G	4: 113,756,905 (GRCm38)		probably null	Het
Sntg2	A	G	12: 30,312,567 (GRCm38)	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,920,322 (GRCm38)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,446,544 (GRCm38)	M1R	probably null	Het
Sult1c1	T	C	17: 53,972,015 (GRCm38)	E91G	probably damaging	Het
Themis2	C	G	4: 132,785,595 (GRCm38)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,059 (GRCm38)	L232P	probably benign	Het
Trappc1	T	C	11: 69,324,422 (GRCm38)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,498,673 (GRCm38)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,627,405 (GRCm38)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,663,075 (GRCm38)		probably null	Het
Vmn1r184	T	A	7: 26,267,583 (GRCm38)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,099,374 (GRCm38)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,747,865 (GRCm38)	V233F	probably benign	Het
Vps13a	A	C	19: 16,766,493 (GRCm38)		probably benign	Het
Vwa5b2	A	G	16: 20,601,608 (GRCm38)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,861,485 (GRCm38)		probably null	Het
Wdr86	A	G	5: 24,718,307 (GRCm38)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,719,743 (GRCm38)	L47S	probably benign	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
R3277:Mdh1b	UTSW	1	63,711,531 (GRCm38)	missense	possibly damaging	0.93
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'- CAGAGCCACTGCGATAATGTTG -3'
(R):5'- TCTTGCTAAGCGGGGAAGTG -3'

Sequencing Primer
(F):5'- ACTGCGATAATGTTGCTCGC -3'
(R):5'- AGAGATCAGCCTGACCCTGTTTG -3'

Posted On

2015-02-18