Incidental Mutation 'R4463:Gatad1'
ID 381226
Institutional Source Beutler Lab
Gene Symbol Gatad1
Ensembl Gene ENSMUSG00000007415
Gene Name GATA zinc finger domain containing 1
Synonyms 2310031E19Rik, 8430439A17Rik, 2810047M21Rik, 9130430G15Rik, B330017N08Rik, Odag
MMRRC Submission 041721-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R4463 (G1)
Quality Score 21
Status Validated
Chromosome 5
Chromosomal Location 3689961-3697936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3697404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 72 (S72R)
Ref Sequence ENSEMBL: ENSMUSP00000113271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007559] [ENSMUST00000119783] [ENSMUST00000196304] [ENSMUST00000199959]
AlphaFold Q920S3
Predicted Effect probably benign
Transcript: ENSMUST00000007559
AA Change: S72R

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000007559
Gene: ENSMUSG00000007415
AA Change: S72R

DomainStartEndE-ValueType
SCOP:d1gnf__ 7 33 9e-5 SMART
low complexity region 34 83 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119783
AA Change: S72R

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113271
Gene: ENSMUSG00000007415
AA Change: S72R

DomainStartEndE-ValueType
Pfam:GATA 9 36 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196304
Predicted Effect probably benign
Transcript: ENSMUST00000199959
SMART Domains Protein: ENSMUSP00000143241
Gene: ENSMUSG00000014529

DomainStartEndE-ValueType
Pfam:Bax1-I 1 96 2.6e-7 PFAM
Meta Mutation Damage Score 0.0695 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,769,981 (GRCm39) probably benign Het
Abcc8 T C 7: 45,756,005 (GRCm39) probably null Het
Alox12e A G 11: 70,209,082 (GRCm39) L388P probably damaging Het
Aspm T A 1: 139,382,748 (GRCm39) S27T possibly damaging Het
Capn2 G A 1: 182,307,329 (GRCm39) probably benign Het
Catspere1 G A 1: 177,765,279 (GRCm39) noncoding transcript Het
Ccdc158 T C 5: 92,782,159 (GRCm39) D820G probably null Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Chd9 T A 8: 91,705,627 (GRCm39) D761E probably benign Het
Chst8 T C 7: 34,374,645 (GRCm39) D398G probably damaging Het
Clns1a T C 7: 97,370,156 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,318,084 (GRCm39) Y355F probably damaging Het
Cyp4f37 A G 17: 32,846,710 (GRCm39) probably null Het
Eif1ad11 A G 12: 87,994,129 (GRCm39) D119G probably benign Het
Eipr1 G A 12: 28,909,338 (GRCm39) A202T probably damaging Het
Fam83a T C 15: 57,858,655 (GRCm39) S232P probably damaging Het
Fastkd2 C T 1: 63,774,968 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,850,144 (GRCm39) M1197V probably benign Het
Fgfr4 G A 13: 55,304,280 (GRCm39) V107I probably benign Het
Gli2 T C 1: 118,763,738 (GRCm39) D1471G probably damaging Het
Gm1330 A T 2: 148,845,064 (GRCm39) Y36* probably null Het
Gm29125 T C 1: 80,360,903 (GRCm39) noncoding transcript Het
Idi1 G A 13: 8,937,508 (GRCm39) probably benign Het
Itgbl1 C T 14: 124,078,080 (GRCm39) T190I probably damaging Het
Kbtbd3 G A 9: 4,331,257 (GRCm39) G544R probably damaging Het
Kifc3 T C 8: 95,828,744 (GRCm39) T638A probably damaging Het
Lama1 G A 17: 68,068,695 (GRCm39) C798Y probably damaging Het
Larp6 C A 9: 60,644,279 (GRCm39) H140N probably damaging Het
Mctp1 A T 13: 76,860,206 (GRCm39) D108V probably damaging Het
Myzap G T 9: 71,462,933 (GRCm39) D204E probably benign Het
Neb GCC GC 2: 52,169,734 (GRCm39) probably null Het
Or13p8 T C 4: 118,583,855 (GRCm39) V137A probably benign Het
Or1j20 T C 2: 36,760,205 (GRCm39) I209T probably benign Het
Or4c102 T C 2: 88,422,976 (GRCm39) V276A possibly damaging Het
Phka1 A G X: 101,588,990 (GRCm39) V818A probably benign Het
Plek T C 11: 16,931,873 (GRCm39) Y326C possibly damaging Het
Pp2d1 A G 17: 53,822,886 (GRCm39) I60T probably benign Het
Prmt3 T C 7: 49,467,837 (GRCm39) Y348H probably damaging Het
Psg27 G T 7: 18,291,010 (GRCm39) Q398K possibly damaging Het
Raver1 T C 9: 21,003,123 (GRCm39) T51A probably benign Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Sectm1a T A 11: 120,960,477 (GRCm39) I113L probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Snph A T 2: 151,436,035 (GRCm39) S229T probably damaging Het
Stpg4 A G 17: 87,697,101 (GRCm39) F183L probably benign Het
Tango6 A T 8: 107,415,706 (GRCm39) T176S probably benign Het
Vmn1r196 A G 13: 22,477,853 (GRCm39) Q164R probably benign Het
Vstm4 T A 14: 32,639,833 (GRCm39) L236Q probably damaging Het
Xylb A G 9: 119,215,433 (GRCm39) D462G probably benign Het
Zc2hc1c A G 12: 85,337,071 (GRCm39) R243G probably damaging Het
Other mutations in Gatad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1183:Gatad1 UTSW 5 3,693,707 (GRCm39) missense possibly damaging 0.95
R1189:Gatad1 UTSW 5 3,693,701 (GRCm39) missense probably damaging 1.00
R1501:Gatad1 UTSW 5 3,693,701 (GRCm39) missense probably damaging 1.00
R3120:Gatad1 UTSW 5 3,691,456 (GRCm39) nonsense probably null
R6973:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R6974:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R6975:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R7068:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R7071:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R7673:Gatad1 UTSW 5 3,696,867 (GRCm39) missense probably benign 0.06
R7948:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R8013:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R8028:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R8033:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R8036:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R8068:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R8069:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R8070:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R8127:Gatad1 UTSW 5 3,693,540 (GRCm39) missense probably benign 0.03
R8963:Gatad1 UTSW 5 3,691,544 (GRCm39) missense probably damaging 1.00
R9644:Gatad1 UTSW 5 3,691,442 (GRCm39) missense possibly damaging 0.64
RF015:Gatad1 UTSW 5 3,697,523 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GTTTCCTGCATATCTCAGAACAG -3'
(R):5'- AAGACTACGTCGTCCTCCATG -3'

Sequencing Primer
(F):5'- ATGCTGACATTTTTAGCGACC -3'
(R):5'- TCCTCCATGTGGAAGAAGAGTCC -3'
Posted On 2016-04-20