Incidental Mutation 'R4778:Hand1'
ID 368099
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 042414-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4778 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 57719539-57722973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57722449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 55 (D55G)
Ref Sequence ENSEMBL: ENSMUSP00000124951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036917] [ENSMUST00000108845] [ENSMUST00000160392]
AlphaFold Q64279
Predicted Effect possibly damaging
Transcript: ENSMUST00000036917
AA Change: D55G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046999
Gene: ENSMUSG00000037335
AA Change: D55G

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: D55G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124951
Gene: ENSMUSG00000037335
AA Change: D55G

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 0.0875 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,615,342 (GRCm39) N1349S probably damaging Het
Ahnak T C 19: 8,989,339 (GRCm39) V3541A possibly damaging Het
Arhgap33 T A 7: 30,231,518 (GRCm39) T156S probably benign Het
Bltp1 T A 3: 36,991,214 (GRCm39) M897K possibly damaging Het
Card11 G T 5: 140,869,537 (GRCm39) probably null Het
Cdh3 T A 8: 107,270,458 (GRCm39) I445N probably damaging Het
Csrp3 T G 7: 48,482,311 (GRCm39) K169N probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Czib T C 4: 107,749,195 (GRCm39) V64A probably damaging Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Erc1 A T 6: 119,774,298 (GRCm39) probably null Het
Fat1 T C 8: 45,491,363 (GRCm39) V3808A probably benign Het
Fbxw19 T C 9: 109,323,714 (GRCm39) D87G probably damaging Het
Gm1123 T C 9: 98,900,560 (GRCm39) I99V probably benign Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Lrguk T A 6: 34,033,015 (GRCm39) I227K probably damaging Het
Mdn1 C T 4: 32,683,583 (GRCm39) R726* probably null Het
Minar1 T A 9: 89,485,155 (GRCm39) I81F probably damaging Het
Myo16 T A 8: 10,619,694 (GRCm39) V1415E probably damaging Het
Myof T C 19: 37,938,011 (GRCm39) D901G probably damaging Het
Naip1 A G 13: 100,563,156 (GRCm39) Y670H probably damaging Het
Nmd3 T A 3: 69,638,924 (GRCm39) Y171* probably null Het
Notch4 C T 17: 34,801,485 (GRCm39) A1111V possibly damaging Het
Nphp4 T A 4: 152,640,748 (GRCm39) D1038E probably benign Het
Or2ag1b A C 7: 106,288,874 (GRCm39) S21R probably damaging Het
Or5p60 A T 7: 107,723,687 (GRCm39) I261N possibly damaging Het
Osbpl10 C T 9: 114,938,598 (GRCm39) S86L probably damaging Het
Pcsk6 G A 7: 65,608,893 (GRCm39) G252R probably damaging Het
Pole T G 5: 110,478,698 (GRCm39) H15Q probably benign Het
Pstpip1 A G 9: 56,035,904 (GRCm39) D383G possibly damaging Het
Ptprq T C 10: 107,426,883 (GRCm39) T1551A probably benign Het
Rasgrf2 A G 13: 92,131,780 (GRCm39) F626L probably damaging Het
Retreg1 C A 15: 25,971,871 (GRCm39) N394K possibly damaging Het
Rpl7-ps8 T A 15: 59,083,252 (GRCm39) noncoding transcript Het
Rpp14 T A 14: 8,090,203 (GRCm38) D42E probably benign Het
Rrp8 T A 7: 105,386,481 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Snx1 T C 9: 66,008,698 (GRCm39) probably benign Het
Stau1 A T 2: 166,805,442 (GRCm39) N51K probably benign Het
Tdrd5 T A 1: 156,083,157 (GRCm39) D960V probably damaging Het
Tex10 T C 4: 48,436,468 (GRCm39) D750G probably damaging Het
Tmem43 T C 6: 91,459,237 (GRCm39) V236A probably damaging Het
Tmem89 T C 9: 108,744,443 (GRCm39) V112A probably damaging Het
Traf7 C G 17: 24,729,412 (GRCm39) probably benign Het
Vmn1r41 A C 6: 89,724,257 (GRCm39) K266T probably damaging Het
Vmn2r65 T C 7: 84,592,801 (GRCm39) K469E possibly damaging Het
Zfp831 A G 2: 174,488,600 (GRCm39) T1092A possibly damaging Het
Zfp981 T A 4: 146,622,112 (GRCm39) S346T 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
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
R9672:Hand1 UTSW 11 57,722,516 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CACATTGGGGATGCACTCAC -3'
(R):5'- TGCTAATTGGGCTGACAGC -3'

Sequencing Primer
(F):5'- GATGCACTCACGCAGCTC -3'
(R):5'- TGACAGCACAGGCCAGG -3'
Posted On 2015-12-29