Incidental Mutation 'R5074:Hal'
ID 386854
Institutional Source Beutler Lab
Gene Symbol Hal
Ensembl Gene ENSMUSG00000020017
Gene Name histidine ammonia lyase
Synonyms histidase, Hsd
MMRRC Submission 042663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5074 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 93324630-93352623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93349904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 555 (I555F)
Ref Sequence ENSEMBL: ENSMUSP00000123336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016031] [ENSMUST00000129421]
AlphaFold P35492
Predicted Effect probably benign
Transcript: ENSMUST00000016031
SMART Domains Protein: ENSMUSP00000016031
Gene: ENSMUSG00000020017

DomainStartEndE-ValueType
low complexity region 60 71 N/A INTRINSIC
SCOP:d1gkma_ 114 161 6e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129421
AA Change: I555F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: I555F

DomainStartEndE-ValueType
Pfam:DUF3534 3 128 6e-9 PFAM
Pfam:Lyase_aromatic 116 590 1.3e-199 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152883
Meta Mutation Damage Score 0.8488 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the histidase protein family. The encoded protein is a cytosolic enzyme which catalyzes the first reaction in histidine catabolism. Defects in this protein cause histidinemia, which is characterized by increased histidine in blood, urine, and cerebrospinal fluid. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mutations in this gene cause elevated histidine levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,482 (GRCm39) H143Q probably benign Het
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Ampd2 A T 3: 107,986,549 (GRCm39) M245K probably damaging Het
Apob G A 12: 8,055,219 (GRCm39) probably null Het
Apool C T X: 111,259,540 (GRCm39) Q60* probably null Het
Aqp1 A T 6: 55,322,520 (GRCm39) I172F probably damaging Het
Atp7a A G X: 105,153,374 (GRCm39) D1092G probably benign Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdc25a T A 9: 109,713,208 (GRCm39) C227S possibly damaging Het
Ces1a A G 8: 93,759,303 (GRCm39) S278P possibly damaging Het
Cfap65 A T 1: 74,962,137 (GRCm39) S695T probably benign Het
Col13a1 A G 10: 61,709,797 (GRCm39) silent Het
Ctps1 A T 4: 120,411,170 (GRCm39) L282Q probably damaging Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Dennd3 G A 15: 73,419,144 (GRCm39) R645H probably damaging Het
Dnaaf5 G T 5: 139,159,962 (GRCm39) R620L probably damaging Het
Dnah11 A T 12: 118,046,188 (GRCm39) L1750* probably null Het
Dnah9 A G 11: 65,740,866 (GRCm39) F4107L probably damaging Het
Dnaja3 A T 16: 4,514,289 (GRCm39) T274S probably damaging Het
Dot1l A G 10: 80,620,480 (GRCm39) D514G possibly damaging Het
Dst A C 1: 34,334,344 (GRCm39) K4857N probably damaging Het
Dysf A T 6: 84,114,254 (GRCm39) K1226M probably damaging Het
Enpep T A 3: 129,097,404 (GRCm39) Q409L probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
H2ab3 T C X: 119,222,543 (GRCm39) T84A probably damaging Het
Hibadh C T 6: 52,597,079 (GRCm39) V122M possibly damaging Het
Hsd3b3 T C 3: 98,649,340 (GRCm39) T328A possibly damaging Het
Ifi44 T C 3: 151,455,269 (GRCm39) probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Inf2 A T 12: 112,578,473 (GRCm39) probably null Het
Itga10 C T 3: 96,559,527 (GRCm39) Q475* probably null Het
Itga6 T A 2: 71,656,779 (GRCm39) D344E probably benign Het
Kcnmb4 T C 10: 116,309,102 (GRCm39) T109A probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Kiss1r C A 10: 79,754,596 (GRCm39) S30* probably null Het
Lrrc66 G A 5: 73,765,354 (GRCm39) P563L probably damaging Het
Mamdc2 T C 19: 23,356,160 (GRCm39) D96G probably benign Het
Map3k12 A T 15: 102,410,267 (GRCm39) probably null Het
Mc3r A T 2: 172,091,533 (GRCm39) I252F possibly damaging Het
Metrn C T 17: 26,015,613 (GRCm39) G34D probably damaging Het
Mipep A G 14: 61,046,462 (GRCm39) E328G probably benign Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Muc5b A T 7: 141,412,999 (GRCm39) T1982S unknown Het
Myh8 A T 11: 67,196,742 (GRCm39) T1792S possibly damaging Het
Myo1a T C 10: 127,543,288 (GRCm39) probably null Het
Myo5a T A 9: 75,081,438 (GRCm39) S1008T probably benign Het
Ncald A T 15: 37,397,478 (GRCm39) H67Q probably damaging Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Nup210 T A 6: 91,032,309 (GRCm39) I20F probably benign Het
Odad1 T A 7: 45,578,514 (GRCm39) M29K probably benign Het
Or10ak12 A C 4: 118,666,057 (GRCm39) W319G possibly damaging Het
Or10p21 T C 10: 128,847,213 (GRCm39) Y20H possibly damaging Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or51l14 A T 7: 103,100,617 (GRCm39) E24D probably benign Het
Or52e8b A T 7: 104,673,260 (GRCm39) M309K probably benign Het
Or52n2c A C 7: 104,574,700 (GRCm39) N90K probably benign Het
Or7h8 A T 9: 20,123,878 (GRCm39) I78F possibly damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Papolg G A 11: 23,817,331 (GRCm39) T153I possibly damaging Het
Pappa A G 4: 65,123,365 (GRCm39) H900R probably benign Het
Pcdh17 T C 14: 84,770,782 (GRCm39) S1087P probably benign Het
Phf11a T G 14: 59,521,849 (GRCm39) L107F possibly damaging Het
Phlpp2 A T 8: 110,652,461 (GRCm39) I602F probably damaging Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Pilra A G 5: 137,833,674 (GRCm39) F131L probably damaging Het
Pomt2 A C 12: 87,180,234 (GRCm39) C256G probably damaging Het
Ppl A T 16: 4,906,742 (GRCm39) S1184R probably benign Het
Prkaa1 G T 15: 5,206,392 (GRCm39) R416L possibly damaging Het
Prkdc C A 16: 15,589,912 (GRCm39) R2592S probably damaging Het
Prmt2 C T 10: 76,058,390 (GRCm39) V140I probably damaging Het
Prodh A T 16: 17,895,653 (GRCm39) probably null Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Rbm38 C T 2: 172,863,875 (GRCm39) P15S probably benign Het
Riox2 T C 16: 59,312,236 (GRCm39) S458P possibly damaging Het
Rnase4 T C 14: 51,342,702 (GRCm39) V142A possibly damaging Het
Rnf138 A G 18: 21,159,204 (GRCm39) N244S probably benign Het
Rnf40 T C 7: 127,196,458 (GRCm39) L802P probably damaging Het
Sfxn4 C T 19: 60,839,450 (GRCm39) V203M probably damaging Het
Skor2 G T 18: 76,946,649 (GRCm39) E124* probably null Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Snrpd3 G T 10: 75,355,227 (GRCm39) C20F possibly damaging Het
Spag17 T A 3: 99,987,434 (GRCm39) Y1575N possibly damaging Het
St8sia4 G A 1: 95,594,910 (GRCm39) A26V probably benign Het
Stab2 A T 10: 86,699,422 (GRCm39) I481N probably benign Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Tgm1 A G 14: 55,947,392 (GRCm39) V323A probably damaging Het
Tmco4 A G 4: 138,785,433 (GRCm39) H501R probably damaging Het
Tob1 A T 11: 94,104,567 (GRCm39) R34S possibly damaging Het
Trhr2 C T 8: 123,084,110 (GRCm39) V297I probably benign Het
Trim30d A C 7: 104,137,165 (GRCm39) V13G probably damaging Het
Trpm3 T C 19: 22,862,713 (GRCm39) V485A possibly damaging Het
Trrap T C 5: 144,787,989 (GRCm39) I3518T probably damaging Het
Ttc27 T C 17: 75,054,750 (GRCm39) L352P probably damaging Het
Ush1g A G 11: 115,209,123 (GRCm39) L357P possibly damaging Het
Usp24 A G 4: 106,277,644 (GRCm39) H2258R probably benign Het
Vcam1 A G 3: 115,918,037 (GRCm39) V308A probably damaging Het
Vdr A G 15: 97,755,459 (GRCm39) S355P probably benign Het
Vldlr T C 19: 27,215,677 (GRCm39) S184P probably damaging Het
Xpo4 C A 14: 57,822,098 (GRCm39) A1073S probably benign Het
Zfand2b A G 1: 75,147,634 (GRCm39) D224G probably benign Het
Zfp263 A G 16: 3,564,704 (GRCm39) R240G possibly damaging Het
Other mutations in Hal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Hal APN 10 93,325,931 (GRCm39) critical splice donor site probably null
IGL01528:Hal APN 10 93,333,455 (GRCm39) missense probably damaging 1.00
IGL01818:Hal APN 10 93,326,846 (GRCm39) missense probably damaging 0.99
IGL01903:Hal APN 10 93,336,469 (GRCm39) splice site probably benign
IGL02152:Hal APN 10 93,339,404 (GRCm39) missense possibly damaging 0.74
IGL02249:Hal APN 10 93,333,400 (GRCm39) missense probably damaging 0.99
IGL02366:Hal APN 10 93,339,390 (GRCm39) missense probably damaging 1.00
IGL02421:Hal APN 10 93,339,335 (GRCm39) missense probably damaging 0.98
IGL02721:Hal APN 10 93,343,360 (GRCm39) nonsense probably null
2k1 UTSW 10 93,350,005 (GRCm39) critical splice donor site probably null
alger UTSW 10 93,343,413 (GRCm39) critical splice donor site probably null
Whittaker UTSW 10 93,352,146 (GRCm39) missense probably benign
R0048:Hal UTSW 10 93,334,853 (GRCm39) missense probably damaging 1.00
R0238:Hal UTSW 10 93,339,344 (GRCm39) missense possibly damaging 0.61
R0238:Hal UTSW 10 93,339,344 (GRCm39) missense possibly damaging 0.61
R0239:Hal UTSW 10 93,339,344 (GRCm39) missense possibly damaging 0.61
R0239:Hal UTSW 10 93,339,344 (GRCm39) missense possibly damaging 0.61
R0372:Hal UTSW 10 93,343,415 (GRCm39) splice site probably benign
R0465:Hal UTSW 10 93,352,146 (GRCm39) missense probably benign
R0504:Hal UTSW 10 93,325,036 (GRCm39) missense probably damaging 0.99
R1357:Hal UTSW 10 93,336,485 (GRCm39) missense probably damaging 0.96
R1623:Hal UTSW 10 93,352,159 (GRCm39) missense probably benign 0.00
R1757:Hal UTSW 10 93,330,490 (GRCm39) missense probably benign 0.14
R1918:Hal UTSW 10 93,332,469 (GRCm39) missense probably damaging 1.00
R2048:Hal UTSW 10 93,327,002 (GRCm39) missense probably damaging 0.98
R2291:Hal UTSW 10 93,339,398 (GRCm39) missense probably damaging 0.98
R3001:Hal UTSW 10 93,343,381 (GRCm39) missense probably damaging 1.00
R3002:Hal UTSW 10 93,343,381 (GRCm39) missense probably damaging 1.00
R3927:Hal UTSW 10 93,349,888 (GRCm39) splice site probably benign
R3948:Hal UTSW 10 93,325,769 (GRCm39) missense possibly damaging 0.94
R4394:Hal UTSW 10 93,332,421 (GRCm39) intron probably benign
R4623:Hal UTSW 10 93,343,301 (GRCm39) missense probably damaging 1.00
R4922:Hal UTSW 10 93,339,401 (GRCm39) missense probably damaging 1.00
R5018:Hal UTSW 10 93,343,413 (GRCm39) critical splice donor site probably null
R5072:Hal UTSW 10 93,349,904 (GRCm39) missense probably damaging 0.99
R5073:Hal UTSW 10 93,349,904 (GRCm39) missense probably damaging 0.99
R5303:Hal UTSW 10 93,352,227 (GRCm39) utr 3 prime probably benign
R5806:Hal UTSW 10 93,326,846 (GRCm39) missense probably damaging 0.97
R5992:Hal UTSW 10 93,326,778 (GRCm39) missense probably damaging 1.00
R6294:Hal UTSW 10 93,350,005 (GRCm39) critical splice donor site probably null
R6370:Hal UTSW 10 93,333,368 (GRCm39) missense probably damaging 1.00
R6747:Hal UTSW 10 93,336,539 (GRCm39) missense probably damaging 1.00
R7142:Hal UTSW 10 93,336,513 (GRCm39) missense possibly damaging 0.85
R7299:Hal UTSW 10 93,328,423 (GRCm39) missense probably benign 0.00
R7301:Hal UTSW 10 93,328,423 (GRCm39) missense probably benign 0.00
R8262:Hal UTSW 10 93,328,369 (GRCm39) missense probably damaging 1.00
R8459:Hal UTSW 10 93,352,177 (GRCm39) missense probably benign 0.01
R8970:Hal UTSW 10 93,325,036 (GRCm39) missense probably damaging 0.99
Z1176:Hal UTSW 10 93,325,755 (GRCm39) missense probably benign 0.00
Z1177:Hal UTSW 10 93,325,197 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTTCAATTCTCCAGCTCATCAATG -3'
(R):5'- GCGATCTTTTATCCAGGGCC -3'

Sequencing Primer
(F):5'- ACTGGTTGCAATAGCGCATGC -3'
(R):5'- TTATCCAGGGCCTTCACAGAG -3'
Posted On 2016-06-06