Incidental Mutation 'IGL00332:Hand1'
ID4594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hand1
Ensembl Gene ENSMUSG00000037335
Gene Nameheart and neural crest derivatives expressed 1
SynonymsHxt, Th1, eHAND, bHLHa27, Ehand1, Thing1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00332
Quality Score
Status
Chromosome11
Chromosomal Location57828705-57832818 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 57831749 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 13 (H13P)
Ref Sequence ENSEMBL: ENSMUSP00000124951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036917] [ENSMUST00000108845] [ENSMUST00000160392]
Predicted Effect probably damaging
Transcript: ENSMUST00000036917
AA Change: H13P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046999
Gene: ENSMUSG00000037335
AA Change: H13P

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 49 78 N/A INTRINSIC
HLH 100 152 1.03e-16 SMART
Predicted Effect unknown
Transcript: ENSMUST00000108845
AA Change: H13P
Predicted Effect probably damaging
Transcript: ENSMUST00000160392
AA Change: H13P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124951
Gene: ENSMUSG00000037335
AA Change: H13P

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 49 78 N/A INTRINSIC
HLH 100 152 1.03e-16 SMART
Coding Region Coverage
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 belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die at embryonic day 8.5-9.5 with yolk sac abnormalities associated with a deficiency of extraembryonic mesoderm and defective trophoblast differentiation. Tetraploid chimeric rescue slightly extends development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,176,421 Y404H possibly damaging Het
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Aplnr A G 2: 85,137,641 S337G probably benign Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgr2b T A 1: 170,961,230 N273I possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Gzmd A T 14: 56,130,280 C179S probably damaging Het
Irak3 C T 10: 120,178,067 probably null Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Katna1 T C 10: 7,762,994 probably benign Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1089 T C 2: 86,733,235 I126V possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Reg2 T A 6: 78,406,221 Y50* probably null Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tbx20 A G 9: 24,758,748 V91A probably damaging Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Hand1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02484:Hand1 APN 11 57831594 missense probably benign
R0724:Hand1 UTSW 11 57831680 missense probably damaging 1.00
R4778:Hand1 UTSW 11 57831623 missense possibly damaging 0.62
R4934:Hand1 UTSW 11 57831252 missense possibly damaging 0.91
R5212:Hand1 UTSW 11 57831447 missense probably damaging 1.00
Posted On2012-04-20