Mutagenetix > Incidental Mutation

Incidental Mutation 'R5160:Mdh1b'

396914

Institutional Source

Beutler Lab

Gene Symbol

Mdh1b

Ensembl Gene

ENSMUSG00000025963

Gene Name

malate dehydrogenase 1B, NAD (soluble)

Synonyms

1700124B08Rik

MMRRC Submission

042742-MU

Accession Numbers

Essential gene?

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

Stock #

R5160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63737978-63769477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63764804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 33 (R33Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027103] [ENSMUST00000114094]

AlphaFold

Q5F204

Predicted Effect

probably benign
Transcript: ENSMUST00000027103

SMART Domains

Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962

Domain	Start	End	E-Value	Type
low complexity region	310	323	N/A	INTRINSIC
Pfam:FAST_1	443	512	2.3e-23	PFAM
low complexity region	546	557	N/A	INTRINSIC
RAP	619	675	1.66e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114094
AA Change: R33Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963
AA Change: R33Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148758

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aftph	G	A	11: 20,662,197 (GRCm39)	P681L	probably benign	Het
Akap9	A	G	5: 4,080,007 (GRCm39)	R1920G	probably damaging	Het
Ano9	G	A	7: 140,684,278 (GRCm39)	R495C	probably damaging	Het
Apoa5	A	G	9: 46,181,794 (GRCm39)	Y290C	probably damaging	Het
Apob	T	C	12: 8,062,126 (GRCm39)	I3536T	possibly damaging	Het
Arhgap42	T	G	9: 8,997,656 (GRCm39)	K823T	probably damaging	Het
Bicc1	T	C	10: 70,768,066 (GRCm39)	Y850C	probably damaging	Het
Cdh2	A	T	18: 16,762,644 (GRCm39)	D433E	probably damaging	Het
Cfap100	A	G	6: 90,390,692 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,808,208 (GRCm39)	N947D	unknown	Het
Col8a2	A	G	4: 126,204,205 (GRCm39)	K72E	possibly damaging	Het
Ddx18	A	G	1: 121,493,608 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,782,933 (GRCm39)	V21A	probably benign	Het
Dnaja3	T	A	16: 4,502,152 (GRCm39)	M52K	probably benign	Het
Fnip2	G	A	3: 79,396,298 (GRCm39)	T504I	probably damaging	Het
Il18	G	A	9: 50,489,193 (GRCm39)		probably null	Het
Ina	T	A	19: 47,003,519 (GRCm39)	I109N	probably damaging	Het
Katnb1	G	T	8: 95,822,098 (GRCm39)	V275L	probably benign	Het
Kdm6b	C	A	11: 69,291,594 (GRCm39)		probably benign	Het
Kifc2	T	A	15: 76,547,177 (GRCm39)	L251Q	probably damaging	Het
Kmt2d	A	G	15: 98,738,105 (GRCm39)		probably benign	Het
Lcor	T	A	19: 41,544,053 (GRCm39)	V82E	probably damaging	Het
Limk2	A	C	11: 3,300,772 (GRCm39)	V190G	probably damaging	Het
Luc7l	A	G	17: 26,486,271 (GRCm39)	D150G	probably benign	Het
Magi3	T	A	3: 103,935,224 (GRCm39)	H903L	possibly damaging	Het
Myo9a	T	C	9: 59,779,085 (GRCm39)	F1614L	probably benign	Het
Ngly1	A	G	14: 16,281,751 (GRCm38)	T210A	probably damaging	Het
Oas1h	A	G	5: 121,009,145 (GRCm39)	Y285C	probably damaging	Het
Or1l4b	T	A	2: 37,036,815 (GRCm39)	M197K	probably benign	Het
Or2h1	T	C	17: 37,404,616 (GRCm39)	D50G	possibly damaging	Het
Or2y12	T	C	11: 49,426,516 (GRCm39)	L168P	probably damaging	Het
Or4a79	T	C	2: 89,551,763 (GRCm39)	R231G	probably damaging	Het
Or5ac25	C	T	16: 59,182,129 (GRCm39)	G151R	probably damaging	Het
Or9s23	C	T	1: 92,501,544 (GRCm39)	T217I	probably benign	Het
Osbpl7	T	C	11: 96,945,382 (GRCm39)	S81P	probably damaging	Het
Pcdha3	T	C	18: 37,079,480 (GRCm39)	V74A	probably damaging	Het
Pi4ka	T	C	16: 17,140,917 (GRCm39)	D68G	probably benign	Het
Prkcz	A	T	4: 155,377,689 (GRCm39)	V79D	probably benign	Het
Ptpn12	T	A	5: 21,202,829 (GRCm39)	I650F	probably damaging	Het
Rb1	A	G	14: 73,501,895 (GRCm39)		silent	Het
Rnaseh2b	T	G	14: 62,590,980 (GRCm39)	Y56*	probably null	Het
Ryr3	A	T	2: 112,477,272 (GRCm39)	C4495S	probably damaging	Het
Tk1	A	G	11: 117,715,572 (GRCm39)	I45T	possibly damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Upp1	T	C	11: 9,085,193 (GRCm39)	S227P	possibly damaging	Het
Vmn1r30	T	A	6: 58,412,368 (GRCm39)	N155Y	probably benign	Het
Wdr35	C	T	12: 9,058,487 (GRCm39)	A548V	probably damaging	Het
Zc3h3	A	T	15: 75,681,512 (GRCm39)	M523K	probably benign	Het
Zc3h4	T	C	7: 16,168,573 (GRCm39)	L894P	unknown	Het
Zfp790	C	T	7: 29,529,192 (GRCm39)	H626Y	probably benign	Het
Zfp873	C	T	10: 81,896,876 (GRCm39)	H536Y	possibly damaging	Het
Zmym4	A	T	4: 126,763,977 (GRCm39)	N1354K	probably damaging	Het
Zscan20	A	G	4: 128,486,275 (GRCm39)	S142P	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
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
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'- GTGGAATCAGCACATTTCTTCCAC -3'
(R):5'- CCACAGTGCATCCTTGAAGTG -3'

Sequencing Primer
(F):5'- CCCATGTCTTAAGATGAACAAGG -3'
(R):5'- CACAGTGCATCCTTGAAGTGTATGG -3'

Posted On

2016-06-21