Incidental Mutation 'R0608:Hap1'
ID 54425
Institutional Source Beutler Lab
Gene Symbol Hap1
Ensembl Gene ENSMUSG00000006930
Gene Name huntingtin-associated protein 1
Synonyms HAP-1
MMRRC Submission 038797-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.801) question?
Stock # R0608 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100238153-100246954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100240131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 555 (L555P)
Ref Sequence ENSEMBL: ENSMUSP00000133356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103124] [ENSMUST00000138603] [ENSMUST00000146878] [ENSMUST00000174635]
AlphaFold O35668
Predicted Effect probably damaging
Transcript: ENSMUST00000103124
AA Change: L555P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099413
Gene: ENSMUSG00000006930
AA Change: L555P

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 damaging
Transcript: ENSMUST00000138603
AA Change: L555P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133356
Gene: ENSMUSG00000006930
AA Change: L555P

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 noncoding transcript
Transcript: ENSMUST00000173304
Predicted Effect unknown
Transcript: ENSMUST00000173630
AA Change: L323P
SMART Domains Protein: ENSMUSP00000134050
Gene: ENSMUSG00000006930
AA Change: L323P

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A G 14: 78,748,193 (GRCm39) V1398A probably benign Het
Ampd3 C A 7: 110,394,997 (GRCm39) D315E probably damaging Het
Ampd3 T A 7: 110,394,998 (GRCm39) F316I probably damaging Het
Arhgef40 A C 14: 52,234,431 (GRCm39) E911D probably damaging Het
Atxn2l A G 7: 126,100,588 (GRCm39) probably null Het
Bckdhb T G 9: 83,835,789 (GRCm39) F98V probably damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Ccdc28a G A 10: 18,100,699 (GRCm39) R90C probably damaging Het
Cdc40 A T 10: 40,724,048 (GRCm39) Y247N probably benign Het
Cds1 G A 5: 101,962,299 (GRCm39) V305M probably damaging Het
Cep128 T G 12: 90,966,309 (GRCm39) probably benign Het
Cep72 A T 13: 74,186,423 (GRCm39) H249Q probably damaging Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Col11a1 T C 3: 114,012,364 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,143,386 (GRCm39) probably null Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah17 G T 11: 117,981,575 (GRCm39) Y1716* probably null Het
Dnm1 T C 2: 32,225,836 (GRCm39) E383G possibly damaging Het
Dst C A 1: 34,329,437 (GRCm39) probably null Het
Edil3 T C 13: 89,332,968 (GRCm39) S375P probably damaging Het
Eme1 A G 11: 94,540,908 (GRCm39) C277R probably damaging Het
Enam T C 5: 88,640,886 (GRCm39) W183R possibly damaging Het
Fbxl6 C T 15: 76,420,953 (GRCm39) V341M probably benign Het
Fgf14 A G 14: 124,914,015 (GRCm39) S39P probably damaging Het
Fmo4 C T 1: 162,631,220 (GRCm39) R249H possibly damaging Het
Gle1 T A 2: 29,830,240 (GRCm39) D265E probably benign Het
Gml2 T C 15: 74,693,235 (GRCm39) probably null Het
Golgb1 G T 16: 36,736,692 (GRCm39) E1980* probably null Het
Heca T C 10: 17,791,039 (GRCm39) D339G possibly damaging Het
Hepacam2 T C 6: 3,483,479 (GRCm39) T101A possibly damaging Het
Ift88 T C 14: 57,733,678 (GRCm39) V707A probably benign Het
Kdm3a C T 6: 71,597,030 (GRCm39) G252D probably benign Het
Klhl11 A G 11: 100,363,068 (GRCm39) Y163H probably damaging Het
Kntc1 A T 5: 123,924,137 (GRCm39) N1008Y probably damaging Het
Lrp2 G T 2: 69,316,587 (GRCm39) N2131K probably benign Het
Magi3 C G 3: 103,924,873 (GRCm39) G1092A probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Minar2 A G 18: 59,195,531 (GRCm39) probably null Het
Mrps26 G T 2: 130,405,778 (GRCm39) R27L possibly damaging Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Naif1 T C 2: 32,344,908 (GRCm39) M204T probably benign Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Neb A T 2: 52,216,769 (GRCm39) D135E probably benign Het
Nlrp6 C T 7: 140,503,399 (GRCm39) Q502* probably null Het
Nploc4 A G 11: 120,304,507 (GRCm39) L238P probably damaging Het
Obi1 T C 14: 104,716,963 (GRCm39) Y470C probably damaging Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pdgfra T C 5: 75,324,438 (GRCm39) Y98H probably damaging Het
Plcz1 C T 6: 139,936,459 (GRCm39) R590H probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Pnpla8 C T 12: 44,330,246 (GRCm39) P48L probably benign Het
Rab44 T A 17: 29,366,317 (GRCm39) probably null Het
Ranbp2 T C 10: 58,329,720 (GRCm39) I3031T probably damaging Het
Sbno1 T C 5: 124,522,604 (GRCm39) D1072G probably damaging Het
Senp7 A G 16: 55,944,236 (GRCm39) T187A possibly damaging Het
Serpinh1 A G 7: 98,998,601 (GRCm39) C10R unknown Het
Sh2d4a A G 8: 68,799,346 (GRCm39) Y405C possibly damaging Het
Slc26a7 T C 4: 14,621,317 (GRCm39) D23G probably benign Het
Slc7a7 A G 14: 54,615,259 (GRCm39) L246P probably damaging Het
Spire1 T C 18: 67,661,945 (GRCm39) R163G probably damaging Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Susd2 C T 10: 75,474,069 (GRCm39) A509T probably benign Het
Sycp2 A G 2: 178,024,197 (GRCm39) F396L probably damaging Het
Syne2 T C 12: 76,010,587 (GRCm39) L2499P probably damaging Het
Syt10 C A 15: 89,711,144 (GRCm39) A130S probably benign Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tab2 C T 10: 7,795,883 (GRCm39) V126I probably damaging Het
Tecpr1 T C 5: 144,148,317 (GRCm39) T363A probably damaging Het
Terb2 A G 2: 122,016,816 (GRCm39) D16G probably benign Het
Tm2d2 A G 8: 25,510,552 (GRCm39) E137G probably benign Het
Trim30d T A 7: 104,121,692 (GRCm39) H201L probably damaging Het
Tspan3 A G 9: 56,054,669 (GRCm39) probably null Het
Ttn A T 2: 76,617,667 (GRCm39) L16268Q probably damaging Het
Ttn A T 2: 76,626,529 (GRCm39) probably null Het
Ubap2 T A 4: 41,218,319 (GRCm39) T263S probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Zeb2 A T 2: 44,886,138 (GRCm39) M973K possibly damaging Het
Zfp229 A G 17: 21,965,615 (GRCm39) E615G probably damaging Het
Zfp655 T A 5: 145,180,867 (GRCm39) S242T possibly damaging Het
Zfp788 T A 7: 41,297,705 (GRCm39) F62I possibly damaging Het
Zmynd8 A G 2: 165,629,078 (GRCm39) probably null 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
R0346:Hap1 UTSW 11 100,246,855 (GRCm39) missense probably benign
R0463: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'- AAATCAGCACACTGGGTGGGAC -3'
(R):5'- CCTGAAGATTTTGAGGCTCCAGAGG -3'

Sequencing Primer
(F):5'- CCTAGTTAAGGTAAGCGATCACTG -3'
(R):5'- TGAGGCTCCAGAGGAGTTG -3'
Posted On 2013-07-11