Incidental Mutation 'R5806:Hal'
ID 448522
Institutional Source Beutler Lab
Gene Symbol Hal
Ensembl Gene ENSMUSG00000020017
Gene Name histidine ammonia lyase
Synonyms histidase, Hsd
MMRRC Submission 043392-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5806 (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 G at 93326846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 161 (T161A)
Ref Sequence ENSEMBL: ENSMUSP00000016031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016031] [ENSMUST00000129421]
AlphaFold P35492
Predicted Effect probably damaging
Transcript: ENSMUST00000016031
AA Change: T161A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000016031
Gene: ENSMUSG00000020017
AA Change: T161A

DomainStartEndE-ValueType
low complexity region 60 71 N/A INTRINSIC
SCOP:d1gkma_ 114 161 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129421
AA Change: T161A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: T161A

DomainStartEndE-ValueType
Pfam:DUF3534 3 128 6e-9 PFAM
Pfam:Lyase_aromatic 116 590 1.3e-199 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,388,731 (GRCm39) M216T probably benign Het
Abhd4 A G 14: 54,499,147 (GRCm39) N36D probably benign Het
Ankra2 T C 13: 98,405,005 (GRCm39) probably null Het
Btd A G 14: 31,389,469 (GRCm39) T397A probably benign Het
Ccbe1 T A 18: 66,209,426 (GRCm39) K205* probably null Het
Clspn A G 4: 126,479,899 (GRCm39) K1081E probably damaging Het
Cmya5 A G 13: 93,230,445 (GRCm39) S1548P possibly damaging Het
Coq8b T A 7: 26,950,050 (GRCm39) Y376* probably null Het
Cpxm1 C A 2: 130,239,393 (GRCm39) A12S probably damaging Het
Cttn T C 7: 144,015,005 (GRCm39) T68A probably damaging Het
Cyp2a12 T A 7: 26,728,504 (GRCm39) probably null Het
Ddx46 A G 13: 55,811,150 (GRCm39) Q582R possibly damaging Het
Ddx55 A G 5: 124,697,262 (GRCm39) E208G probably damaging Het
Dnaaf4 T C 9: 72,869,336 (GRCm39) L182P probably benign Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Ep400 A T 5: 110,903,420 (GRCm39) L393* probably null Het
Ern1 G C 11: 106,289,531 (GRCm39) S924C probably damaging Het
Fanci T C 7: 79,098,596 (GRCm39) I1249T probably damaging Het
Fgfbp3 T G 19: 36,895,949 (GRCm39) D223A probably damaging Het
Frmd6 T C 12: 70,936,794 (GRCm39) L313P probably damaging Het
Galnt17 A G 5: 130,906,657 (GRCm39) Y504H probably damaging Het
Gjb5 A G 4: 127,249,718 (GRCm39) I142T probably benign Het
Gvin1 T C 7: 105,757,413 (GRCm39) D2352G probably benign Het
H2-M2 G A 17: 37,792,617 (GRCm39) T218I probably damaging Het
Helb G A 10: 119,928,424 (GRCm39) R806C probably damaging Het
Ift80 T A 3: 68,857,809 (GRCm39) I279F probably benign Het
Itln1 A T 1: 171,358,720 (GRCm39) I149N possibly damaging Het
Kcnt2 A C 1: 140,437,234 (GRCm39) T556P probably damaging Het
Klk1b22 A T 7: 43,765,301 (GRCm39) E84D possibly damaging Het
Krt78 A G 15: 101,858,937 (GRCm39) L305P probably damaging Het
Lzts2 T C 19: 45,014,806 (GRCm39) probably benign Het
Macf1 A G 4: 123,265,680 (GRCm39) L6843P probably damaging Het
Magi2 C A 5: 20,856,202 (GRCm39) H841Q probably benign Het
Mdm1 A T 10: 118,002,563 (GRCm39) H628L probably benign Het
Med23 A G 10: 24,783,119 (GRCm39) D734G probably damaging Het
Mfsd13a T C 19: 46,354,849 (GRCm39) W9R probably benign Het
Mki67 T C 7: 135,306,334 (GRCm39) H576R probably damaging Het
Muc5b A G 7: 141,416,572 (GRCm39) T3173A possibly damaging Het
Mx1 A T 16: 97,255,351 (GRCm39) V234E possibly damaging Het
Myh2 T C 11: 67,072,141 (GRCm39) L623P probably damaging Het
Naip1 C T 13: 100,581,243 (GRCm39) M1I probably null Het
Ncapd2 A T 6: 125,158,117 (GRCm39) V337E probably damaging Het
Nit2 G A 16: 56,982,056 (GRCm39) T64M possibly damaging Het
Or1e34 A T 11: 73,778,373 (GRCm39) M275K probably damaging Het
Or4c103 T C 2: 88,513,495 (GRCm39) N194D probably damaging Het
Or6e1 A T 14: 54,520,264 (GRCm39) F29L probably benign Het
Otub2 A G 12: 103,369,656 (GRCm39) E245G probably benign Het
Pde8b T C 13: 95,178,548 (GRCm39) K524R probably damaging Het
Pih1d2 C T 9: 50,529,750 (GRCm39) probably benign Het
Pik3cg T A 12: 32,254,952 (GRCm39) D345V possibly damaging Het
Plekhg4 A T 8: 106,105,542 (GRCm39) Q669L possibly damaging Het
Prlr A T 15: 10,319,290 (GRCm39) Y73F probably damaging Het
Ptk6 T C 2: 180,841,523 (GRCm39) I129V possibly damaging Het
Ranbp3 A T 17: 57,017,717 (GRCm39) T458S probably benign Het
Ren1 T A 1: 133,283,249 (GRCm39) Y128* probably null Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rnf222 T C 11: 68,783,789 (GRCm39) S119P possibly damaging Het
Rrbp1 T A 2: 143,805,251 (GRCm39) E1007V probably benign Het
Septin11 G A 5: 93,315,437 (GRCm39) E389K probably benign Het
Setbp1 A G 18: 78,899,697 (GRCm39) probably null Het
Slc25a54 T C 3: 108,987,894 (GRCm39) S12P probably benign Het
Slc26a5 A C 5: 22,028,561 (GRCm39) F336V probably damaging Het
Slc5a6 T C 5: 31,198,114 (GRCm39) T254A probably damaging Het
Smcr8 G T 11: 60,671,208 (GRCm39) probably null Het
Srcap A T 7: 127,158,335 (GRCm39) probably benign Het
Srrt A T 5: 137,296,179 (GRCm39) I509N probably damaging Het
Tcf25 T A 8: 124,108,243 (GRCm39) H99Q probably benign Het
Tmem40 A G 6: 115,713,373 (GRCm39) V76A probably benign Het
Tnni3k A T 3: 154,533,248 (GRCm39) S740T possibly damaging Het
Top3a A G 11: 60,667,746 (GRCm39) probably null Het
Tpd52l2 C A 2: 181,144,680 (GRCm39) T109K probably damaging Het
Tsnaxip1 C A 8: 106,564,128 (GRCm39) D109E possibly damaging Het
Uty G T Y: 1,170,921 (GRCm39) D313E probably damaging Het
Zfp143 A T 7: 109,685,442 (GRCm39) K423* probably null Het
Zfp407 C T 18: 84,576,739 (GRCm39) G1458D probably 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
R5074: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
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'- ATCTGGTCAACCTGGGCAAG -3'
(R):5'- GCCTTCATGGGAGACTTACTG -3'

Sequencing Primer
(F):5'- CTGGGCAAGGGACGTTAC -3'
(R):5'- AGACTTACTGTAGCTTATTGGCAG -3'
Posted On 2016-12-15