Incidental Mutation 'R0346:Hap1'
ID 34290
Institutional Source Beutler Lab
Gene Symbol Hap1
Ensembl Gene ENSMUSG00000006930
Gene Name huntingtin-associated protein 1
Synonyms HAP-1
MMRRC Submission 038553-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.801) question?
Stock # R0346 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 100238153-100246954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100246855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 17 (S17P)
Ref Sequence ENSEMBL: ENSMUSP00000133356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103124] [ENSMUST00000138603] [ENSMUST00000146878] [ENSMUST00000174635]
AlphaFold O35668
Predicted Effect probably benign
Transcript: ENSMUST00000103124
AA Change: S17P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099413
Gene: ENSMUSG00000006930
AA Change: S17P

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
Pfam:HAP1_N 79 403 5e-111 PFAM
low complexity region 481 499 N/A INTRINSIC
low complexity region 506 530 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138603
AA Change: S17P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133356
Gene: ENSMUSG00000006930
AA Change: S17P

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
Pfam:HAP1_N 80 402 1.4e-109 PFAM
low complexity region 481 499 N/A INTRINSIC
low complexity region 506 530 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146878
SMART Domains Protein: ENSMUSP00000134625
Gene: ENSMUSG00000006930

DomainStartEndE-ValueType
Pfam:HAP1_N 1 181 2.2e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173630
SMART Domains Protein: ENSMUSP00000134050
Gene: ENSMUSG00000006930

DomainStartEndE-ValueType
Pfam:HAP1_N 1 177 1e-46 PFAM
low complexity region 250 268 N/A INTRINSIC
low complexity region 275 299 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174635
SMART Domains Protein: ENSMUSP00000133831
Gene: ENSMUSG00000006930

DomainStartEndE-ValueType
low complexity region 119 137 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington's disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous inactivation of this gene results in abnormal feeding and/or suckling behavior, absent gastric milk in neonates, slow postnatal weight gain, and postnatal death. Degeneration in hypothalamic regions that control feeding behavior has been observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,516,278 (GRCm39) I4406L probably damaging Het
Abca16 T A 7: 120,035,155 (GRCm39) C314S probably damaging Het
Add3 C T 19: 53,205,387 (GRCm39) R46* probably null Het
Alas1 A T 9: 106,120,550 (GRCm39) S82T possibly damaging Het
Alkbh5 C G 11: 60,429,567 (GRCm39) R107G possibly damaging Het
Ap3b1 A T 13: 94,582,479 (GRCm39) R365* probably null Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
AU021092 T C 16: 5,034,718 (GRCm39) D168G possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Caln1 C A 5: 130,851,762 (GRCm39) H184N possibly damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Ccdc191 T C 16: 43,759,315 (GRCm39) V372A probably damaging Het
Ccng2 T G 5: 93,418,753 (GRCm39) I126S probably damaging Het
Cep85 A T 4: 133,859,733 (GRCm39) N643K probably damaging Het
Clvs2 G C 10: 33,498,542 (GRCm39) S129R possibly damaging Het
Cntn1 G T 15: 92,129,968 (GRCm39) probably benign Het
Cttn A T 7: 144,006,276 (GRCm39) probably benign Het
Dedd2 T C 7: 24,910,694 (GRCm39) S161G possibly damaging Het
Dnajb13 T C 7: 100,153,132 (GRCm39) D263G probably damaging Het
Dppa4 T A 16: 48,109,687 (GRCm39) probably benign Het
Ear2 A G 14: 44,340,363 (GRCm39) E7G probably damaging Het
Eif2b4 A G 5: 31,345,452 (GRCm39) probably benign Het
Etl4 G T 2: 20,764,463 (GRCm39) probably null Het
Fbxo15 T A 18: 84,978,346 (GRCm39) probably null Het
Gm9970 A G 5: 31,398,182 (GRCm39) probably benign Het
Hgd C T 16: 37,409,136 (GRCm39) probably benign Het
Ift56 T C 6: 38,386,370 (GRCm39) C364R probably damaging Het
Inpp5f T A 7: 128,292,392 (GRCm39) L16Q probably damaging Het
Irag1 T C 7: 110,498,183 (GRCm39) D404G probably damaging Het
Islr2 G A 9: 58,105,626 (GRCm39) R545* probably null Het
Itgav G T 2: 83,622,953 (GRCm39) C675F probably damaging Het
Kif13a T A 13: 46,967,695 (GRCm39) I403L possibly damaging Het
Kif14 T A 1: 136,395,898 (GRCm39) I68N probably damaging Het
Kif26a G T 12: 112,145,782 (GRCm39) K1764N probably null Het
Lrrd1 C A 5: 3,900,215 (GRCm39) F173L probably benign Het
Mroh4 G C 15: 74,486,141 (GRCm39) probably benign Het
Msh5 A G 17: 35,248,864 (GRCm39) V723A probably benign Het
Mybph T G 1: 134,125,492 (GRCm39) I279S probably damaging Het
Myh4 A T 11: 67,151,152 (GRCm39) I1936L probably benign Het
Myo1h A T 5: 114,493,270 (GRCm39) T704S probably benign Het
Nav2 C A 7: 49,254,333 (GRCm39) T2377K probably benign Het
Nipbl T G 15: 8,390,440 (GRCm39) Q276H probably damaging Het
Nlrp9b T C 7: 19,758,440 (GRCm39) L559P probably damaging Het
Nup210l T A 3: 90,096,745 (GRCm39) V1318E probably damaging Het
Or1e26 A G 11: 73,480,283 (GRCm39) Y94H probably damaging Het
Or4z4 A T 19: 12,076,803 (GRCm39) S67T probably damaging Het
Or6c8b C A 10: 128,882,342 (GRCm39) V197F possibly damaging Het
Or7e178 A G 9: 20,225,707 (GRCm39) S170P probably benign Het
P2ry13 T C 3: 59,116,987 (GRCm39) T264A possibly damaging Het
Plekhg5 T C 4: 152,198,710 (GRCm39) L966P probably benign Het
Prss35 A G 9: 86,637,404 (GRCm39) K58R probably benign Het
Ptafr T A 4: 132,307,390 (GRCm39) L260* probably null Het
Pum1 A T 4: 130,507,116 (GRCm39) T1157S possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf145 A G 11: 44,445,991 (GRCm39) Y275C probably damaging Het
Rpl6 A T 5: 121,346,554 (GRCm39) K218N possibly damaging Het
Rps6 T C 4: 86,774,218 (GRCm39) T128A probably benign Het
Ryr1 G T 7: 28,767,013 (GRCm39) probably benign Het
Scel A T 14: 103,767,420 (GRCm39) Q26H probably damaging Het
Sfxn4 A T 19: 60,847,111 (GRCm39) D57E probably benign Het
Slc35d1 A C 4: 103,048,044 (GRCm39) L240R probably damaging Het
Smcr8 A G 11: 60,670,576 (GRCm39) I575V probably benign Het
Spata31e4 T C 13: 50,857,346 (GRCm39) Y995H probably benign Het
Syk G A 13: 52,794,695 (GRCm39) M476I probably damaging Het
Tbcel A T 9: 42,348,539 (GRCm39) probably benign Het
Tob2 C A 15: 81,742,424 (GRCm39) G65W probably damaging Het
Trim16 A G 11: 62,731,520 (GRCm39) N464D probably benign Het
Trim36 T C 18: 46,332,776 (GRCm39) probably benign Het
Trpv4 C A 5: 114,768,590 (GRCm39) probably benign Het
Tsga10 T A 1: 37,879,600 (GRCm39) T64S possibly damaging Het
Vars2 A T 17: 35,975,756 (GRCm39) probably benign Het
Vmn1r72 C A 7: 11,403,621 (GRCm39) V276L probably benign Het
Vps13a T A 19: 16,655,333 (GRCm39) K1898N probably benign Het
Vps18 A G 2: 119,127,645 (GRCm39) M823V probably damaging Het
Washc2 T C 6: 116,197,484 (GRCm39) probably benign Het
Zfp763 A T 17: 33,238,721 (GRCm39) H141Q probably benign Het
Other mutations in Hap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Hap1 APN 11 100,240,374 (GRCm39) missense probably benign 0.00
IGL01320:Hap1 APN 11 100,240,206 (GRCm39) missense probably damaging 0.96
IGL01790:Hap1 APN 11 100,242,732 (GRCm39) splice site probably null
IGL01949:Hap1 APN 11 100,239,588 (GRCm39) missense probably damaging 0.96
IGL02325:Hap1 APN 11 100,245,190 (GRCm39) critical splice acceptor site probably null
IGL03399:Hap1 APN 11 100,245,093 (GRCm39) missense possibly damaging 0.90
R0463:Hap1 UTSW 11 100,240,131 (GRCm39) missense probably damaging 1.00
R0608:Hap1 UTSW 11 100,240,131 (GRCm39) missense probably damaging 1.00
R1112:Hap1 UTSW 11 100,245,143 (GRCm39) missense probably damaging 1.00
R1682:Hap1 UTSW 11 100,240,302 (GRCm39) missense possibly damaging 0.46
R1952:Hap1 UTSW 11 100,243,105 (GRCm39) missense probably damaging 1.00
R2079:Hap1 UTSW 11 100,244,572 (GRCm39) missense probably damaging 1.00
R2088:Hap1 UTSW 11 100,246,828 (GRCm39) missense probably benign
R2112:Hap1 UTSW 11 100,244,825 (GRCm39) missense probably benign 0.28
R2211:Hap1 UTSW 11 100,245,550 (GRCm39) missense probably benign 0.21
R2354:Hap1 UTSW 11 100,245,541 (GRCm39) missense probably damaging 1.00
R3829:Hap1 UTSW 11 100,246,847 (GRCm39) missense probably damaging 0.99
R4259:Hap1 UTSW 11 100,242,668 (GRCm39) critical splice donor site probably null
R4429:Hap1 UTSW 11 100,245,098 (GRCm39) missense probably benign 0.00
R4585:Hap1 UTSW 11 100,245,550 (GRCm39) missense probably benign 0.21
R4586:Hap1 UTSW 11 100,245,550 (GRCm39) missense probably benign 0.21
R5085:Hap1 UTSW 11 100,246,537 (GRCm39) missense probably damaging 1.00
R5133:Hap1 UTSW 11 100,242,357 (GRCm39) missense probably benign 0.00
R5762:Hap1 UTSW 11 100,246,600 (GRCm39) missense probably damaging 1.00
R6118:Hap1 UTSW 11 100,246,620 (GRCm39) missense probably benign 0.24
R6148:Hap1 UTSW 11 100,240,218 (GRCm39) missense probably damaging 1.00
R7221:Hap1 UTSW 11 100,239,655 (GRCm39) missense probably benign 0.02
R7683:Hap1 UTSW 11 100,242,374 (GRCm39) missense probably damaging 1.00
R8350:Hap1 UTSW 11 100,240,107 (GRCm39) missense probably damaging 0.96
R8450:Hap1 UTSW 11 100,240,107 (GRCm39) missense probably damaging 0.96
R8516:Hap1 UTSW 11 100,246,893 (GRCm39) missense possibly damaging 0.66
R8855:Hap1 UTSW 11 100,246,864 (GRCm39) missense probably damaging 1.00
R9517:Hap1 UTSW 11 100,240,188 (GRCm39) missense possibly damaging 0.92
R9720:Hap1 UTSW 11 100,246,696 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GATGCCCAAATAGTGCCCAATGC -3'
(R):5'- GAAATCCATCACCGTGGACTCGAC -3'

Sequencing Primer
(F):5'- GATCCCCGAGACTCAGTTTAC -3'
(R):5'- AAGCTAGGCACTAGTTCATCTC -3'
Posted On 2013-05-09