Incidental Mutation 'R9644:Gatad1'
ID 726132
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R9644 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 3689961-3697936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3691442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 250 (V250A)
Ref Sequence ENSEMBL: ENSMUSP00000007559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000007559] [ENSMUST00000119783] [ENSMUST00000121291] [ENSMUST00000140871] [ENSMUST00000196304]
AlphaFold Q920S3
Predicted Effect probably benign
Transcript: ENSMUST00000006061
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
Pfam:PEX-2N 14 99 2.4e-53 PFAM
Pfam:PEX-1N 103 179 8.6e-27 PFAM
low complexity region 508 527 N/A INTRINSIC
AAA 552 702 1.39e-10 SMART
low complexity region 754 765 N/A INTRINSIC
AAA 834 970 4.07e-17 SMART
low complexity region 1024 1044 N/A INTRINSIC
low complexity region 1051 1061 N/A INTRINSIC
low complexity region 1065 1078 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000007559
AA Change: V250A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000007559
Gene: ENSMUSG00000007415
AA Change: V250A

DomainStartEndE-ValueType
SCOP:d1gnf__ 7 33 9e-5 SMART
low complexity region 34 83 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119783
SMART Domains Protein: ENSMUSP00000113271
Gene: ENSMUSG00000007415

DomainStartEndE-ValueType
Pfam:GATA 9 36 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121291
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
Pfam:PEX-2N 17 98 8.7e-38 PFAM
Pfam:PEX-1N 104 179 1.4e-27 PFAM
low complexity region 548 567 N/A INTRINSIC
AAA 592 742 1.39e-10 SMART
low complexity region 794 805 N/A INTRINSIC
AAA 874 1010 4.07e-17 SMART
low complexity region 1064 1084 N/A INTRINSIC
low complexity region 1091 1101 N/A INTRINSIC
low complexity region 1105 1118 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000140871
AA Change: V33A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000196304
AA Change: V38A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 C A 4: 152,270,752 (GRCm39) S32* probably null Het
Adam34 T A 8: 44,104,766 (GRCm39) H293L probably damaging Het
Adgrl3 A G 5: 81,872,036 (GRCm39) N910S probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Ankrd36 A G 11: 5,593,835 (GRCm39) D480G possibly damaging Het
Aox4 T A 1: 58,267,278 (GRCm39) D185E probably benign Het
Apol8 C A 15: 77,633,695 (GRCm39) V294L probably damaging Het
Arsk G A 13: 76,220,227 (GRCm39) A289V probably damaging Het
Atg101 A G 15: 101,188,447 (GRCm39) D184G probably benign Het
Atp10b C T 11: 43,042,659 (GRCm39) T73I probably damaging Het
Ccn4 T G 15: 66,784,785 (GRCm39) C153G Het
Ccser2 A T 14: 36,601,150 (GRCm39) N411K possibly damaging Het
Cct5 A G 15: 31,601,845 (GRCm39) S3P probably benign Het
Chn1 A T 2: 73,490,184 (GRCm39) I31K probably benign Het
Clec2e T A 6: 129,070,443 (GRCm39) I193L probably benign Het
Crim1 G A 17: 78,587,497 (GRCm39) G201R probably damaging Het
Ctrc A G 4: 141,572,336 (GRCm39) V68A probably damaging Het
Dennd4c T A 4: 86,713,363 (GRCm39) I438N probably damaging Het
Dnah5 T A 15: 28,230,650 (GRCm39) W183R probably damaging Het
Dnali1 T A 4: 124,950,402 (GRCm39) I253F probably damaging Het
Dyrk1b T C 7: 27,881,790 (GRCm39) L83P probably damaging Het
Emx2 T C 19: 59,452,427 (GRCm39) I237T probably benign Het
Enpp3 C T 10: 24,685,801 (GRCm39) R198K probably damaging Het
Epb41l1 C T 2: 156,367,165 (GRCm39) P678L possibly damaging Het
Epm2aip1 C T 9: 111,102,137 (GRCm39) T370I probably damaging Het
Fam184a T G 10: 53,573,342 (GRCm39) Q346P probably damaging Het
Foxi2 A C 7: 135,013,727 (GRCm39) H319P possibly damaging Het
Gmeb1 T C 4: 131,959,440 (GRCm39) I205V probably benign Het
Gucy2g C G 19: 55,219,537 (GRCm39) V362L probably benign Het
Hace1 T C 10: 45,526,001 (GRCm39) S281P probably benign Het
Helz C A 11: 107,563,687 (GRCm39) A1709D unknown Het
Igf2bp2 T A 16: 21,902,735 (GRCm39) N115Y probably damaging Het
Igkv4-86 C T 6: 68,887,593 (GRCm39) V49I probably benign Het
Kdm2b A T 5: 123,120,842 (GRCm39) V101E probably damaging Het
Kidins220 A G 12: 25,061,018 (GRCm39) D790G probably damaging Het
Kif18a A G 2: 109,171,517 (GRCm39) T865A probably benign Het
Kif1b A G 4: 149,375,836 (GRCm39) V10A probably damaging Het
Kmt2d A T 15: 98,743,385 (GRCm39) M3925K unknown Het
Mcee G T 7: 64,061,730 (GRCm39) A178S possibly damaging Het
Megf10 A T 18: 57,375,773 (GRCm39) H233L probably benign Het
Meox1 T A 11: 101,769,482 (GRCm39) E238V probably benign Het
Myo5a G A 9: 75,043,631 (GRCm39) G207R probably damaging Het
Nemf T A 12: 69,359,436 (GRCm39) N966I possibly damaging Het
Or10q3 T C 19: 11,848,574 (GRCm39) E2G probably benign Het
Or1j14 A T 2: 36,417,777 (GRCm39) M118L probably damaging Het
Or5b123 G T 19: 13,597,344 (GRCm39) A230S probably benign Het
Or6c204 A G 10: 129,022,738 (GRCm39) I184T possibly damaging Het
Pfas T C 11: 68,883,542 (GRCm39) Q662R probably benign Het
Phf2 G T 13: 49,024,218 (GRCm39) C8* probably null Het
Pkhd1 T A 1: 20,617,690 (GRCm39) N965I probably benign Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Prb1b T A 6: 132,289,218 (GRCm39) Q202L unknown Het
Prdm8 A T 5: 98,333,638 (GRCm39) T402S probably benign Het
Proz T A 8: 13,116,854 (GRCm39) D135E probably benign Het
Prtg T A 9: 72,813,493 (GRCm39) I951K probably damaging Het
Rasgef1b A T 5: 99,380,014 (GRCm39) Y288* probably null Het
Sacs T A 14: 61,443,428 (GRCm39) C1825S probably benign Het
Slc22a12 G C 19: 6,587,673 (GRCm39) P427R probably damaging Het
Slfn3 A G 11: 83,105,728 (GRCm39) Y575C probably damaging Het
St18 C T 1: 6,929,276 (GRCm39) T56I Het
Synrg T C 11: 83,910,696 (GRCm39) L876S probably damaging Het
Tchh T C 3: 93,354,666 (GRCm39) C1369R unknown Het
Tet2 G A 3: 133,193,064 (GRCm39) Q457* probably null Het
Thap12 T C 7: 98,364,495 (GRCm39) V221A probably damaging Het
Tor3a T A 1: 156,501,126 (GRCm39) D104V probably damaging Het
Trpc2 T C 7: 101,744,439 (GRCm39) V737A possibly damaging Het
Trpc4 A G 3: 54,129,699 (GRCm39) Y155C probably damaging Het
Tspyl1 T C 10: 34,159,135 (GRCm39) S287P possibly damaging Het
Ube2u TAGAAGAAGAAGAAGAAGAAGAAGAAGA TAGAAGAAGAAGAAGAAGAAGAAGA 4: 100,406,943 (GRCm39) probably benign Het
Ubr2 A G 17: 47,266,706 (GRCm39) probably null Het
Vmn1r238 T A 18: 3,122,635 (GRCm39) T260S probably benign 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
R4463:Gatad1 UTSW 5 3,697,404 (GRCm39) missense probably benign 0.05
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
RF015:Gatad1 UTSW 5 3,697,523 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AACCTGGGCTATACATGAGACC -3'
(R):5'- AACTGTACTTAACATTTCCCTGGC -3'

Sequencing Primer
(F):5'- TGGGCTATACATGAGACCCTATC -3'
(R):5'- AACATTTCCCTGGCTGCCC -3'
Posted On 2022-09-12