Mutagenetix > Incidental Mutation

Incidental Mutation 'R4181:Gapdh'

319736

Institutional Source

Beutler Lab

Gene Symbol

Gapdh

Ensembl Gene

ENSMUSG00000057666

Gene Name

glyceraldehyde-3-phosphate dehydrogenase

Synonyms

Gapd, Gapd

MMRRC Submission

041017-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4181 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

125138812-125143450 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 125142197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043848] [ENSMUST00000073605] [ENSMUST00000117675] [ENSMUST00000117757] [ENSMUST00000118875] [ENSMUST00000119527] [ENSMUST00000183272] [ENSMUST00000182277] [ENSMUST00000182052] [ENSMUST00000144364]

AlphaFold

P16858

Predicted Effect

probably benign
Transcript: ENSMUST00000043848

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252

Domain	Start	End	E-Value	Type
Pfam:Cnd1_N	75	240	1.4e-41	PFAM
low complexity region	461	472	N/A	INTRINSIC
low complexity region	936	949	N/A	INTRINSIC
Pfam:Cnd1	1058	1224	2.5e-65	PFAM
low complexity region	1329	1345	N/A	INTRINSIC
low complexity region	1357	1369	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073605

SMART Domains

Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666

Domain	Start	End	E-Value	Type
Gp_dh_N	2	143	4.2e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117675

SMART Domains

Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC
low complexity region	362	375	N/A	INTRINSIC
low complexity region	381	392	N/A	INTRINSIC
PDB:1GK4\|F	393	459	6e-7	PDB
low complexity region	474	497	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117757

SMART Domains

Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666

Domain	Start	End	E-Value	Type
Gp_dh_N	2	150	7.33e-109	SMART
Pfam:Gp_dh_C	155	312	5.2e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118875

SMART Domains

Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666

Domain	Start	End	E-Value	Type
Gp_dh_N	2	150	7.33e-109	SMART
Pfam:Gp_dh_C	155	312	7.4e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119527

SMART Domains

Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
low complexity region	378	389	N/A	INTRINSIC
PDB:1GK4\|F	390	456	6e-7	PDB
low complexity region	471	494	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139071

Predicted Effect

probably benign
Transcript: ENSMUST00000183272

SMART Domains

Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666

Domain	Start	End	E-Value	Type
Gp_dh_N	2	107	7.93e-64	SMART
Pfam:Gp_dh_C	112	269	3e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182277

SMART Domains

Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666

Domain	Start	End	E-Value	Type
Gp_dh_N	2	57	2.75e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182052

SMART Domains

Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666

Domain	Start	End	E-Value	Type
Gp_dh_N	1	55	2.96e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148835

SMART Domains

Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
Filament	34	348	4.99e-2	SMART
low complexity region	356	379	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144364

SMART Domains

Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188665

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

92% (48/52)

MGI Phenotype

FUNCTION: This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein was originally identified as a key glycolytic enzyme that converts D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Subsequent studies have assigned a variety of additional functions to the protein including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Alternative splicing results in multiple transcript variants. Many pseudogenes similar to this locus are found throughout the mouse genome. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mutant heterozygotes show reduced enzyme levels. The currently known mutant allels are homozygous lethal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,540,279 (GRCm39)	Y1445C	probably damaging	Het
Arhgap12	T	C	18: 6,111,734 (GRCm39)	D210G	probably damaging	Het
Atp11b	A	G	3: 35,854,714 (GRCm39)	K284R	probably benign	Het
Atp11b	A	G	3: 35,843,707 (GRCm39)	T185A	probably damaging	Het
Bcas1	A	G	2: 170,260,547 (GRCm39)	V44A	probably benign	Het
Carmil3	G	A	14: 55,741,412 (GRCm39)	D1066N	probably benign	Het
Cfap251	T	C	5: 123,431,873 (GRCm39)	I549T	probably benign	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Clic4	A	G	4: 134,953,350 (GRCm39)	V98A	probably benign	Het
Cmpk2	T	C	12: 26,527,046 (GRCm39)	V345A	probably damaging	Het
Col6a3	A	T	1: 90,735,336 (GRCm39)	I771N	probably damaging	Het
Cyp2d34	A	T	15: 82,501,486 (GRCm39)		probably null	Het
Cyp7a1	C	T	4: 6,271,205 (GRCm39)	G317E	probably benign	Het
Ddx1	A	T	12: 13,281,504 (GRCm39)	L353*	probably null	Het
Dnhd1	T	A	7: 105,343,161 (GRCm39)	W1502R	probably damaging	Het
Drc1	T	C	5: 30,513,057 (GRCm39)	V377A	probably benign	Het
Fyb1	A	G	15: 6,610,404 (GRCm39)	N326D	probably benign	Het
Gm973	A	G	1: 59,590,399 (GRCm39)	Y302C	possibly damaging	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Gtpbp3	C	T	8: 71,944,111 (GRCm39)	T285I	probably damaging	Het
Hnrnpul1	T	C	7: 25,426,237 (GRCm39)	D538G	probably damaging	Het
Kif26b	G	A	1: 178,742,991 (GRCm39)	S582N	probably damaging	Het
Lgals4	T	C	7: 28,535,437 (GRCm39)	V107A	possibly damaging	Het
Lmbr1l	A	T	15: 98,806,601 (GRCm39)	L270Q	possibly damaging	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lpcat3	C	T	6: 124,680,187 (GRCm39)		probably benign	Het
Lrp1b	G	A	2: 40,501,446 (GRCm39)	T219I	probably damaging	Het
Man2a2	T	A	7: 80,001,487 (GRCm39)	E1140V	possibly damaging	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or7g30	C	T	9: 19,353,031 (GRCm39)	A274V	possibly damaging	Het
Or8k53	A	T	2: 86,177,581 (GRCm39)	H176Q	probably damaging	Het
Pdss1	T	C	2: 22,805,517 (GRCm39)	I265T	probably damaging	Het
Piezo2	T	C	18: 63,257,801 (GRCm39)		probably null	Het
Rad50	T	A	11: 53,592,832 (GRCm39)	N106I	probably benign	Het
Rbbp6	A	G	7: 122,593,958 (GRCm39)	Y568C	probably damaging	Het
Rorc	G	A	3: 94,294,500 (GRCm39)	C33Y	probably damaging	Het
Ssc4d	T	C	5: 135,990,778 (GRCm39)	E470G	possibly damaging	Het
Tnxb	T	G	17: 34,928,428 (GRCm39)	V2614G	possibly damaging	Het
Trip11	A	T	12: 101,860,027 (GRCm39)	D282E	probably damaging	Het
Ttn	G	T	2: 76,706,811 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,073,097 (GRCm39)		probably benign	Het
Wiz	T	C	17: 32,586,959 (GRCm39)	E117G	probably damaging	Het
Zfp982	A	G	4: 147,597,150 (GRCm39)	K169R	probably benign	Het

Other mutations in Gapdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Gapdh	APN	6	125,139,470 (GRCm39)	missense	probably damaging	0.99
R2203:Gapdh	UTSW	6	125,139,569 (GRCm39)	missense	probably benign	0.18
R3195:Gapdh	UTSW	6	125,139,583 (GRCm39)	missense	possibly damaging	0.94
R4480:Gapdh	UTSW	6	125,140,145 (GRCm39)	missense	possibly damaging	0.55
R5934:Gapdh	UTSW	6	125,139,664 (GRCm39)	missense	probably damaging	0.98
R6019:Gapdh	UTSW	6	125,139,996 (GRCm39)	nonsense	probably null
R6034:Gapdh	UTSW	6	125,142,261 (GRCm39)	missense	probably benign	0.25
R6212:Gapdh	UTSW	6	125,139,661 (GRCm39)	missense	probably damaging	1.00
R6776:Gapdh	UTSW	6	125,139,236 (GRCm39)	missense	probably damaging	1.00
R6928:Gapdh	UTSW	6	125,139,634 (GRCm39)	missense	probably damaging	1.00
R7188:Gapdh	UTSW	6	125,142,403 (GRCm39)	intron	probably benign
R7330:Gapdh	UTSW	6	125,139,900 (GRCm39)	missense	probably benign	0.03
R7777:Gapdh	UTSW	6	125,139,911 (GRCm39)	nonsense	probably null
R8027:Gapdh	UTSW	6	125,139,331 (GRCm39)	missense	probably benign	0.05
R8343:Gapdh	UTSW	6	125,140,226 (GRCm39)	missense	probably benign	0.05
R8737:Gapdh	UTSW	6	125,139,017 (GRCm39)	missense	probably benign	0.00
R9304:Gapdh	UTSW	6	125,139,819 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CCTAATACTTAAGACTCCGGGCC -3'
(R):5'- ACTGTACGGGTCTAGGGATG -3'

Sequencing Primer
(F):5'- CGCTCATCCCCGCAAAGG -3'
(R):5'- TGCGAAGTGTGCAAGCC -3'

Posted On

2015-06-10