Mutagenetix > Incidental Mutation

Incidental Mutation 'R0940:Gadd45a'

81391

Institutional Source

Beutler Lab

Gene Symbol

Gadd45a

Ensembl Gene

ENSMUSG00000036390

Gene Name

growth arrest and DNA-damage-inducible 45 alpha

Synonyms

Ddit1

MMRRC Submission

039079-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R0940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67012080-67014391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67013813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 44 (I44T)

Ref Sequence

ENSEMBL: ENSMUSP00000145432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043098] [ENSMUST00000204369] [ENSMUST00000204282]

AlphaFold

P48316

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043098
AA Change: I78T

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044034
Gene: ENSMUSG00000036390
AA Change: I78T

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L7Ae	21	113	2.2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151958

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204369
AA Change: I44T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145432
Gene: ENSMUSG00000036390
AA Change: I44T

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L7Ae	11	81	2.2e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155041

Predicted Effect

probably benign
Transcript: ENSMUST00000204282

SMART Domains

Protein: ENSMUSP00000145136
Gene: ENSMUSG00000036390

Domain	Start	End	E-Value	Type
PDB:2KG4\|A	1	49	5e-25	PDB

Meta Mutation Damage Score

0.5315

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.0%
20x: 96.7%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice show genomic instability, thymus hyperplasia, elevated radiation carcinogenesis, abnormal parturition and low frequency exencephaly. Females develop a lupus-like syndrome associated with high titers of autoantibodies, hematologic deficits, glomerulonephritis and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	C	T	9: 22,119,367 (GRCm39)		noncoding transcript	Het
2610021A01Rik	T	G	7: 41,275,858 (GRCm39)	I520M	probably damaging	Het
Ackr4	A	G	9: 103,976,831 (GRCm39)	F39L	probably damaging	Het
Adgre5	C	T	8: 84,460,126 (GRCm39)	S92N	probably damaging	Het
Adrb2	T	C	18: 62,312,762 (GRCm39)	D21G	probably benign	Het
Akr1c6	G	A	13: 4,486,372 (GRCm39)	E60K	probably benign	Het
Bcl7c	T	A	7: 127,306,503 (GRCm39)	N96I	possibly damaging	Het
Brca1	A	T	11: 101,422,969 (GRCm39)	S106R	possibly damaging	Het
C6	A	T	15: 4,764,717 (GRCm39)	T138S	probably benign	Het
Cul3	T	C	1: 80,300,564 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 31,022,217 (GRCm39)	M3939K	probably damaging	Het
Dock4	T	A	12: 40,681,626 (GRCm39)		probably benign	Het
Dsc2	T	G	18: 20,183,116 (GRCm39)	T101P	probably damaging	Het
Dynlt1b	T	C	17: 6,697,649 (GRCm39)		probably benign	Het
E330013P04Rik	A	G	19: 60,150,354 (GRCm39)		noncoding transcript	Het
Fggy	A	G	4: 95,585,238 (GRCm39)	E39G	probably benign	Het
Fhip1a	A	G	3: 85,572,797 (GRCm39)	V952A	possibly damaging	Het
Fmo6	A	T	1: 162,753,795 (GRCm39)	C116S	probably benign	Het
Gmps	A	G	3: 63,883,743 (GRCm39)		probably benign	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Hnrnpm	G	A	17: 33,868,976 (GRCm39)	R523C	probably damaging	Het
Inpp5a	T	C	7: 139,105,654 (GRCm39)	Y202H	probably damaging	Het
Kank3	C	T	17: 34,036,450 (GRCm39)	S106F	probably damaging	Het
Lmcd1	A	G	6: 112,305,658 (GRCm39)	D253G	probably benign	Het
Lrrk2	A	T	15: 91,613,284 (GRCm39)	I803F	possibly damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Mycbp2	A	T	14: 103,500,129 (GRCm39)		probably benign	Het
Myh4	A	T	11: 67,133,689 (GRCm39)	N243Y	probably damaging	Het
Myorg	A	G	4: 41,497,996 (GRCm39)	Y545H	probably damaging	Het
Nfatc1	C	T	18: 80,679,110 (GRCm39)	M759I	probably benign	Het
Nipal4	A	G	11: 46,041,139 (GRCm39)	I352T	possibly damaging	Het
Nomo1	A	G	7: 45,683,329 (GRCm39)	E25G	possibly damaging	Het
Or10j27	A	G	1: 172,958,020 (GRCm39)	S255P	probably benign	Het
Or13a19	T	C	7: 139,903,065 (GRCm39)	I151T	probably benign	Het
Or14j7	A	G	17: 38,234,591 (GRCm39)	I45V	probably damaging	Het
Or1e32	T	C	11: 73,705,050 (GRCm39)	N286S	probably damaging	Het
Or4c116	T	A	2: 88,942,419 (GRCm39)	I146L	probably benign	Het
Or5p66	T	C	7: 107,886,264 (GRCm39)	D23G	probably benign	Het
Pabpn1l	A	G	8: 123,349,183 (GRCm39)	V78A	probably benign	Het
Pde6b	T	A	5: 108,568,203 (GRCm39)	I327N	possibly damaging	Het
Phrf1	T	C	7: 140,834,768 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,575,818 (GRCm39)		probably benign	Het
Plxna2	G	A	1: 194,482,863 (GRCm39)	V1519I	probably benign	Het
Ppp2cb	T	C	8: 34,105,689 (GRCm39)		probably null	Het
Prickle2	A	G	6: 92,387,984 (GRCm39)	Y473H	probably benign	Het
Prpf3	A	G	3: 95,751,535 (GRCm39)	W389R	probably damaging	Het
Psme4	G	A	11: 30,765,264 (GRCm39)	E544K	possibly damaging	Het
Relb	A	T	7: 19,345,767 (GRCm39)	D395E	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,307,389 (GRCm39)	N683S	probably benign	Het
Rtel1	T	C	2: 180,964,596 (GRCm39)	C102R	probably benign	Het
Sel1l3	C	T	5: 53,301,379 (GRCm39)		probably benign	Het
Slc8a2	A	G	7: 15,878,887 (GRCm39)	T458A	probably benign	Het
Smc3	T	A	19: 53,629,340 (GRCm39)	M931K	probably benign	Het
Sorbs2	T	C	8: 46,249,539 (GRCm39)	V795A	probably benign	Het
Tgm3	A	G	2: 129,854,326 (GRCm39)	S2G	probably benign	Het
Tpbpa	T	C	13: 61,087,867 (GRCm39)	T75A	probably damaging	Het
Trub1	A	G	19: 57,473,495 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,328,604 (GRCm39)		probably null	Het
Ugt2a3	A	G	5: 87,475,065 (GRCm39)	V393A	possibly damaging	Het
Vav3	T	A	3: 109,470,151 (GRCm39)	M532K	possibly damaging	Het
Zfp616	A	T	11: 73,975,850 (GRCm39)	K706N	probably damaging	Het
Zkscan1	T	C	5: 138,091,432 (GRCm39)	F55S	probably damaging	Het

Other mutations in Gadd45a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3856:Gadd45a	UTSW	6	67,013,989 (GRCm39)	splice site	probably null
R4842:Gadd45a	UTSW	6	67,013,873 (GRCm39)	missense	probably damaging	1.00
R8190:Gadd45a	UTSW	6	67,013,813 (GRCm39)	missense	possibly damaging	0.83
R8299:Gadd45a	UTSW	6	67,014,183 (GRCm39)	critical splice donor site	probably null
R9491:Gadd45a	UTSW	6	67,012,730 (GRCm39)	missense	probably benign	0.00
Z1176:Gadd45a	UTSW	6	67,013,720 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- ATCAGCGTTCAGCTCGGACAAG -3'
(R):5'- TGCCAAGCTGCTCAACGTGTAAG -3'

Sequencing Primer
(F):5'- AGCTCGGACAAGGTCCAC -3'
(R):5'- TCAACGTGTAAGTGGCCC -3'

Posted On

2013-11-07