Incidental Mutation 'R8721:Hand1'
ID 662123
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 068717-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8721 (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 57722605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 3 (L3P)
Ref Sequence ENSEMBL: ENSMUSP00000046999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036917] [ENSMUST00000108845] [ENSMUST00000160392]
AlphaFold Q64279
Predicted Effect probably damaging
Transcript: ENSMUST00000036917
AA Change: L3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046999
Gene: ENSMUSG00000037335
AA Change: L3P

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 damaging
Transcript: ENSMUST00000108845
AA Change: L3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000160392
AA Change: L3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124951
Gene: ENSMUSG00000037335
AA Change: L3P

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: 99.1%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,035,115 (GRCm39) D684G possibly damaging Het
Abhd16a T C 17: 35,310,571 (GRCm39) V94A possibly damaging Het
Acly A T 11: 100,412,806 (GRCm39) probably null Het
Adamts1 G T 16: 85,594,775 (GRCm39) T621K probably damaging Het
Arhgap24 A T 5: 103,023,565 (GRCm39) T200S possibly damaging Het
Arhgap31 A G 16: 38,427,058 (GRCm39) V598A probably benign Het
Ascc1 T C 10: 59,933,928 (GRCm39) F323S possibly damaging Het
Cdcp3 T C 7: 130,879,335 (GRCm39) S1785P unknown Het
Ces2b T A 8: 105,560,527 (GRCm39) V114D possibly damaging Het
Cfap73 T C 5: 120,768,089 (GRCm39) E223G probably benign Het
Csnk1e T C 15: 79,314,015 (GRCm39) N78S possibly damaging Het
Cyp7a1 G T 4: 6,268,273 (GRCm39) A484E probably damaging Het
Dnah9 G T 11: 65,986,124 (GRCm39) T1170K probably damaging Het
Fam83d G T 2: 158,627,522 (GRCm39) V404L probably benign Het
Fbxw28 C T 9: 109,157,382 (GRCm39) V289I probably benign Het
Frs2 T G 10: 116,909,935 (GRCm39) I476L probably benign Het
Gbp2b A T 3: 142,312,705 (GRCm39) I363F possibly damaging Het
Gm8267 A T 14: 44,959,507 (GRCm39) F186I possibly damaging Het
Hmcn2 C T 2: 31,315,189 (GRCm39) L3671F probably damaging Het
Hspa12b A G 2: 130,982,922 (GRCm39) D260G probably benign Het
Itih2 T C 2: 10,111,619 (GRCm39) K440E probably damaging Het
Morn4 A T 19: 42,066,439 (GRCm39) N49K possibly damaging Het
Mtmr6 T G 14: 60,527,128 (GRCm39) probably null Het
Mylk A T 16: 34,817,176 (GRCm39) D1848V probably damaging Het
Myo7b A G 18: 32,140,064 (GRCm39) V242A probably damaging Het
Or4a74 T C 2: 89,440,186 (GRCm39) K87E probably benign Het
Or8g19 T G 9: 39,055,386 (GRCm39) probably benign Het
Rmdn3 T A 2: 118,969,846 (GRCm39) Q405L possibly damaging Het
Robo2 A G 16: 73,703,798 (GRCm39) S30P Het
Suclg1 G T 6: 73,246,362 (GRCm39) L218F probably damaging Het
Tas2r134 T C 2: 51,517,571 (GRCm39) S17P probably damaging Het
Tdrd9 T C 12: 112,002,889 (GRCm39) L846P probably damaging Het
Tgfbi A G 13: 56,773,599 (GRCm39) N199S probably benign Het
Traj35 C T 14: 54,421,272 (GRCm39) T14I Het
Tril A G 6: 53,797,183 (GRCm39) V13A probably benign Het
Tshz2 T A 2: 169,727,278 (GRCm39) S625T probably benign Het
Ttll12 A G 15: 83,464,784 (GRCm39) F464L probably damaging Het
Wdr35 T C 12: 9,075,044 (GRCm39) probably null Het
Zfp346 A G 13: 55,261,491 (GRCm39) S94G possibly damaging Het
Zfp429 T A 13: 67,538,331 (GRCm39) Y371F probably damaging Het
Zscan4-ps2 A T 7: 11,251,522 (GRCm39) E186V probably benign 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
R9035:Hand1 UTSW 11 57,722,548 (GRCm39) missense probably benign 0.13
R9672:Hand1 UTSW 11 57,722,516 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CGCGCTGTTAATGCTCTCTG -3'
(R):5'- CCCTCGTTGCCTACAGAAAC -3'

Sequencing Primer
(F):5'- ATCGGGACCATAGGCAGC -3'
(R):5'- GTTGCCTACAGAAACCTTCAAGAG -3'
Posted On 2021-03-08