Incidental Mutation 'R9672:Hand1'
ID 728106
Institutional Source Beutler Lab
Gene Symbol Hand1
Ensembl Gene ENSMUSG00000037335
Gene Name heart and neural crest derivatives expressed 1
Synonyms Ehand1, bHLHa27, Th1, Hxt, eHAND, Thing1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9672 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 57719539-57722973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57722516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 33 (S33P)
Ref Sequence ENSEMBL: ENSMUSP00000046999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036917] [ENSMUST00000108845] [ENSMUST00000160392]
AlphaFold Q64279
Predicted Effect possibly damaging
Transcript: ENSMUST00000036917
AA Change: S33P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046999
Gene: ENSMUSG00000037335
AA Change: S33P

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 probably benign
Transcript: ENSMUST00000108845
Predicted Effect possibly damaging
Transcript: ENSMUST00000160392
AA Change: S33P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124951
Gene: ENSMUSG00000037335
AA Change: S33P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,838,563 (GRCm39) K612N probably null Het
Atrnl1 G A 19: 57,618,695 (GRCm39) A138T possibly damaging Het
Bicc1 T C 10: 70,794,666 (GRCm39) T164A probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Ccdc7a A G 8: 129,671,016 (GRCm39) S497P unknown Het
Cd209d C G 8: 3,922,036 (GRCm39) G212A probably damaging Het
Cog8 A G 8: 107,780,658 (GRCm39) I200T probably damaging Het
Cuzd1 T A 7: 130,919,847 (GRCm39) I90F possibly damaging Het
Cyp4a30b T A 4: 115,316,576 (GRCm39) C401S probably benign Het
Cyp4a31 T A 4: 115,427,422 (GRCm39) N209K probably benign Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dcaf11 T A 14: 55,806,484 (GRCm39) Y468* probably null Het
Dennd4a A G 9: 64,800,640 (GRCm39) D926G probably benign Het
Dph7 T C 2: 24,855,606 (GRCm39) L135P probably benign Het
Fcho2 A T 13: 98,869,178 (GRCm39) C564* probably null Het
Gabrb2 G A 11: 42,312,207 (GRCm39) G11R probably benign Het
Gas6 A G 8: 13,528,273 (GRCm39) S187P probably benign Het
Gemin5 C T 11: 58,058,585 (GRCm39) V93I probably benign Het
Gldn A T 9: 54,245,780 (GRCm39) I444F probably damaging Het
Gmps T C 3: 63,897,750 (GRCm39) V234A probably damaging Het
Ice2 G A 9: 69,322,899 (GRCm39) A465T probably benign Het
Irf9 T C 14: 55,842,129 (GRCm39) S2P probably benign Het
Kpna7 C T 5: 144,944,776 (GRCm39) M21I probably benign Het
Lig4 A G 8: 10,023,213 (GRCm39) M189T probably damaging Het
Lrp1b T C 2: 40,779,291 (GRCm39) T2698A Het
Med10 A G 13: 69,963,711 (GRCm39) K104R probably benign Het
Mfsd14b A G 13: 65,260,320 (GRCm39) W38R probably benign Het
Mrgpra2a A G 7: 47,076,490 (GRCm39) F256S probably benign Het
Myo9a A G 9: 59,687,332 (GRCm39) K146E probably benign Het
Oxgr1 T A 14: 120,259,454 (GRCm39) Y251F probably damaging Het
Pabpc4 T C 4: 123,184,133 (GRCm39) probably null Het
Pde8a A G 7: 80,942,014 (GRCm39) N151S probably damaging Het
Pdilt A G 7: 119,100,824 (GRCm39) F176L possibly damaging Het
Plekhg5 C A 4: 152,187,541 (GRCm39) D115E probably benign Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Ppp1r9a T C 6: 5,007,889 (GRCm39) C532R unknown Het
Rasa2 A G 9: 96,427,781 (GRCm39) W695R probably damaging Het
Rbpms2 A G 9: 65,538,118 (GRCm39) N3S probably benign Het
Rsph6a A G 7: 18,799,842 (GRCm39) Y491C probably damaging Het
Scel T A 14: 103,836,838 (GRCm39) N495K possibly damaging Het
Setd1a T C 7: 127,385,237 (GRCm39) L648P possibly damaging Het
Snx29 A T 16: 11,478,515 (GRCm39) R333S probably benign Het
Sppl2c A G 11: 104,077,344 (GRCm39) Y48C probably damaging Het
Uba2 A T 7: 33,856,749 (GRCm39) N230K probably benign Het
Utrn T C 10: 12,603,613 (GRCm39) Q589R possibly damaging Het
Vmn1r51 T A 6: 90,106,549 (GRCm39) L155H probably damaging Het
Vmn2r97 A G 17: 19,149,442 (GRCm39) N277D probably benign Het
Wdr97 T A 15: 76,240,377 (GRCm39) V355E Het
Yy1 C A 12: 108,759,584 (GRCm39) H82Q unknown Het
Other mutations in Hand1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Hand1 APN 11 57,722,575 (GRCm39) missense probably damaging 1.00
IGL02484:Hand1 APN 11 57,722,420 (GRCm39) missense probably benign
R0724:Hand1 UTSW 11 57,722,506 (GRCm39) missense probably damaging 1.00
R4778:Hand1 UTSW 11 57,722,449 (GRCm39) missense possibly damaging 0.62
R4934:Hand1 UTSW 11 57,722,078 (GRCm39) missense possibly damaging 0.91
R5212:Hand1 UTSW 11 57,722,273 (GRCm39) missense probably damaging 1.00
R8721:Hand1 UTSW 11 57,722,605 (GRCm39) missense probably damaging 1.00
R9035:Hand1 UTSW 11 57,722,548 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- ACGCGCTGTTAATGCTCTCTG -3'
(R):5'- TCGCTCAGGACTCTCCAAAC -3'

Sequencing Primer
(F):5'- GCTGTTAATGCTCTCTGTGCGTC -3'
(R):5'- AGTTCGCTGCCTCTGGAG -3'
Posted On 2022-10-06