Mutagenetix > Incidental Mutation

Incidental Mutation 'R4480:Gapdh'

331422

Institutional Source

Beutler Lab

Gene Symbol

Gapdh

Ensembl Gene

ENSMUSG00000057666

Gene Name

glyceraldehyde-3-phosphate dehydrogenase

Synonyms

Gapd, Gapd

MMRRC Submission

041737-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4480 (G1)

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

125138812-125143450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125140145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 119 (V119A)

Ref Sequence

ENSEMBL: ENSMUSP00000113942 (fasta)

Gene Model

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

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
AA Change: V93A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666
AA Change: V93A

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

possibly damaging
Transcript: ENSMUST00000117757
AA Change: V119A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666
AA Change: V119A

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
AA Change: V93A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666
AA Change: V93A

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

probably benign
Transcript: ENSMUST00000182052
AA Change: V53A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666
AA Change: V53A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182464

Predicted Effect

probably benign
Transcript: ENSMUST00000183272
AA Change: V50A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666
AA Change: V50A

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

noncoding transcript
Transcript: ENSMUST00000147954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144588

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

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: 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

noncoding transcript
Transcript: ENSMUST00000192506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188119

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

95% (40/42)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,654,663 (GRCm39)	T553A	possibly damaging	Het
Adgrb3	A	T	1: 25,150,829 (GRCm39)	F1135I	probably damaging	Het
Arfgef3	A	T	10: 18,476,348 (GRCm39)	F1490L	probably damaging	Het
Begain	A	G	12: 109,000,049 (GRCm39)	Y446H	probably damaging	Het
Cdh15	A	G	8: 123,591,415 (GRCm39)	H517R	probably benign	Het
Cemip2	A	G	19: 21,792,853 (GRCm39)	Q703R	probably benign	Het
D130040H23Rik	C	A	8: 69,755,155 (GRCm39)	H187N	possibly damaging	Het
Dip2b	C	T	15: 100,084,182 (GRCm39)	T935M	probably damaging	Het
Eif2s2	T	C	2: 154,730,190 (GRCm39)	T36A	probably benign	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxo10	T	C	4: 45,048,470 (GRCm39)	Y555C	probably damaging	Het
Fpr2	C	T	17: 18,114,015 (GRCm39)	T337I	probably benign	Het
Frem3	A	T	8: 81,337,986 (GRCm39)	Q93L	probably benign	Het
Gm3159	T	C	14: 4,398,584 (GRCm38)	Y92H	probably damaging	Het
Hkdc1	T	C	10: 62,227,151 (GRCm39)	I769V	probably benign	Het
Ifne	T	C	4: 88,797,838 (GRCm39)	*193W	probably null	Het
Katna1	T	C	10: 7,614,594 (GRCm39)	V32A	probably damaging	Het
Nup107	T	C	10: 117,597,237 (GRCm39)	I673V	probably benign	Het
Nup188	T	A	2: 30,212,141 (GRCm39)		probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10g1	G	A	14: 52,647,765 (GRCm39)	A188V	probably damaging	Het
Or2t48	G	T	11: 58,420,627 (GRCm39)	P62T	probably damaging	Het
Pcdhb5	T	A	18: 37,453,805 (GRCm39)	S62T	probably benign	Het
Plekha5	T	C	6: 140,472,205 (GRCm39)	V44A	probably damaging	Het
Psg18	C	T	7: 18,084,787 (GRCm39)	S103N	probably benign	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Ptprs	A	G	17: 56,733,404 (GRCm39)	V804A	possibly damaging	Het
Rab35	C	A	5: 115,775,823 (GRCm39)	S34*	probably null	Het
Slco6d1	T	A	1: 98,435,299 (GRCm39)	Y671*	probably null	Het
Sostdc1	A	G	12: 36,367,165 (GRCm39)	I114V	probably damaging	Het
Tecta	A	G	9: 42,284,529 (GRCm39)	F852S	possibly damaging	Het
Tmem179	T	C	12: 112,469,737 (GRCm39)	E21G	probably benign	Het
Usp17la	T	A	7: 104,509,897 (GRCm39)	H167Q	probably benign	Het
Vps8	A	T	16: 21,363,986 (GRCm39)		probably benign	Het
Wdr17	A	G	8: 55,117,999 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,542,969 (GRCm39)	E213G	probably benign	Het
Zfp985	A	G	4: 147,668,536 (GRCm39)	D468G	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
R4181:Gapdh	UTSW	6	125,142,197 (GRCm39)	intron	probably benign
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'- CTAAGCAGTTGGTGGTGCAG -3'
(R):5'- GGCAAAGTGGAGATTGTTGCC -3'

Sequencing Primer
(F):5'- CAGGATGCATTGCTGACAATC -3'
(R):5'- GCCATCAACGACCCCTTCATTG -3'

Posted On

2015-07-21