Incidental Mutation 'R5212:Hand1'
ID 403192
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 042786-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5212 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 57719539-57722973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 57722273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 114 (F114V)
Ref Sequence ENSEMBL: ENSMUSP00000124951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036917] [ENSMUST00000108845] [ENSMUST00000160392]
AlphaFold Q64279
Predicted Effect probably damaging
Transcript: ENSMUST00000036917
AA Change: F114V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046999
Gene: ENSMUSG00000037335
AA Change: F114V

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 probably damaging
Transcript: ENSMUST00000160392
AA Change: F114V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124951
Gene: ENSMUSG00000037335
AA Change: F114V

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
Meta Mutation Damage Score 0.9379 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (58/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,771,611 (GRCm39) S267T possibly damaging Het
Abca9 T C 11: 109,998,052 (GRCm39) D1514G probably benign Het
Adamtsl4 T A 3: 95,584,980 (GRCm39) D896V probably damaging Het
Amer2 A G 14: 60,617,269 (GRCm39) Y362C probably damaging Het
Arglu1 T A 8: 8,733,843 (GRCm39) R158W probably damaging Het
Arhgef7 A G 8: 11,778,388 (GRCm39) E46G probably benign Het
Atg2b A G 12: 105,613,055 (GRCm39) V1172A probably benign Het
Bhlhe23 T A 2: 180,417,886 (GRCm39) K217N probably damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Ccp110 C T 7: 118,328,919 (GRCm39) A845V probably damaging Het
Cd63 A G 10: 128,747,722 (GRCm39) Y105C probably damaging Het
Cdk11b T C 4: 155,723,072 (GRCm39) probably null Het
Clip1 T A 5: 123,768,744 (GRCm39) R618S probably benign Het
Crybg1 A T 10: 43,843,739 (GRCm39) F1731L possibly damaging Het
Dock1 A C 7: 134,390,923 (GRCm39) K728Q possibly damaging Het
Emc2 A G 15: 43,374,240 (GRCm39) E180G probably damaging Het
F13b A T 1: 139,440,725 (GRCm39) I394F probably benign Het
Fnta A G 8: 26,499,735 (GRCm39) I155T probably benign Het
Fshr T A 17: 89,293,685 (GRCm39) E331V probably benign Het
Fshr T A 17: 89,293,684 (GRCm39) E331D probably benign Het
Gas2l1 A T 11: 5,011,108 (GRCm39) C574S probably benign Het
Ggnbp2 T A 11: 84,744,847 (GRCm39) probably benign Het
Gm3371 A C 14: 44,641,111 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,016 (GRCm39) probably benign Het
Itga4 A C 2: 79,110,939 (GRCm39) H259P probably damaging Het
Jakmip1 A T 5: 37,262,245 (GRCm39) H183L probably benign Het
Kifbp A T 10: 62,398,908 (GRCm39) probably benign Het
Krt8 G T 15: 101,906,402 (GRCm39) A369D possibly damaging Het
Krt82 T C 15: 101,453,484 (GRCm39) S301G probably damaging Het
Lig3 A G 11: 82,678,504 (GRCm39) T248A probably benign Het
Madcam1 C G 10: 79,504,179 (GRCm39) T255S probably benign Het
Med20 T C 17: 47,929,775 (GRCm39) Y71H probably benign Het
Mtss2 A G 8: 111,455,850 (GRCm39) I107V probably damaging Het
Nans T C 4: 46,502,547 (GRCm39) F328S possibly damaging Het
Ncbp3 A G 11: 72,944,373 (GRCm39) probably benign Het
Nek8 T C 11: 78,063,342 (GRCm39) M1V probably null Het
Nufip1 A T 14: 76,370,538 (GRCm39) N413I possibly damaging Het
Pbx3 T C 2: 34,178,793 (GRCm39) probably benign Het
Plppr3 C T 10: 79,698,279 (GRCm39) G419R probably benign Het
Rfx1 G T 8: 84,793,221 (GRCm39) probably benign Het
Rnpepl1 C T 1: 92,839,045 (GRCm39) A68V probably benign Het
Rsbn1l A T 5: 21,101,212 (GRCm39) M776K probably benign Het
Setd7 A T 3: 51,450,238 (GRCm39) Y63N probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snap47 T C 11: 59,319,178 (GRCm39) E320G probably damaging Het
Spaca6 C A 17: 18,058,656 (GRCm39) P68Q probably benign Het
Tdrd3 G C 14: 87,743,651 (GRCm39) R527P probably damaging Het
Tmprss2 G T 16: 97,377,492 (GRCm39) Q202K probably benign Het
Tmprss6 A G 15: 78,330,460 (GRCm39) V69A probably damaging Het
Trav6-1 A T 14: 52,876,161 (GRCm39) Q27L probably benign Het
Ttn C T 2: 76,731,957 (GRCm39) probably benign Het
Ttn T C 2: 76,619,945 (GRCm39) I15908V probably benign Het
Ttn T A 2: 76,628,019 (GRCm39) D12931V probably damaging Het
Ush2a T A 1: 188,176,902 (GRCm39) probably null Het
Wls A G 3: 159,578,645 (GRCm39) N69S 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
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
R9672:Hand1 UTSW 11 57,722,516 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TTATAAGCCCCGGGACTCAC -3'
(R):5'- TGATGCTGCCCCAGATTTC -3'

Sequencing Primer
(F):5'- TTCGCGACCACCATCCG -3'
(R):5'- CAGATTTCCCTGCCGGC -3'
Posted On 2016-07-22