Incidental Mutation 'R6294:Hal'
ID 508619
Institutional Source Beutler Lab
Gene Symbol Hal
Ensembl Gene ENSMUSG00000020017
Gene Name histidine ammonia lyase
Synonyms histidase, Hsd
MMRRC Submission 044406-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6294 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 93324630-93352623 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 93350005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000129421
SMART Domains Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017

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 0.9482 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 99% (71/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,631,440 (GRCm39) H579L probably benign Het
Aldh2 G A 5: 121,710,879 (GRCm39) Q8* probably null Het
Ankdd1a G T 9: 65,427,446 (GRCm39) H10Q probably benign Het
Arpp21 A G 9: 111,956,520 (GRCm39) F453L probably damaging Het
Birc6 C A 17: 74,996,252 (GRCm39) D4461E probably benign Het
Cacna1b A T 2: 24,609,069 (GRCm39) S411T possibly damaging Het
Camk2g A G 14: 20,815,017 (GRCm39) I203T probably damaging Het
Cat A T 2: 103,290,640 (GRCm39) C425S probably benign Het
Ccdc34 A G 2: 109,848,496 (GRCm39) D95G probably benign Het
Clca4b T C 3: 144,630,946 (GRCm39) S305G probably null Het
Cul7 T C 17: 46,974,074 (GRCm39) I1453T probably benign Het
Dlg1 T A 16: 31,656,942 (GRCm39) I612N probably damaging Het
Dync2h1 T G 9: 7,084,986 (GRCm39) K561T probably benign Het
Erbin T C 13: 103,993,564 (GRCm39) T359A probably benign Het
Far2 T A 6: 148,058,980 (GRCm39) L222Q probably damaging Het
Fbxw17 A G 13: 50,577,839 (GRCm39) E114G probably benign Het
Fryl A T 5: 73,349,102 (GRCm39) probably benign Het
Ggn A G 7: 28,873,273 (GRCm39) D666G possibly damaging Het
Htt A G 5: 34,979,170 (GRCm39) D851G probably benign Het
Ighv14-2 A T 12: 113,958,218 (GRCm39) D74E probably benign Het
Igkv5-43 G A 6: 69,800,426 (GRCm39) S87L probably damaging Het
Klhl29 A T 12: 5,133,995 (GRCm39) F720I probably damaging Het
Klk1b8 T A 7: 43,602,196 (GRCm39) Y43N probably damaging Het
Krtap20-1 T A 16: 88,880,989 (GRCm39) Y7N unknown Het
Lama4 T A 10: 38,951,466 (GRCm39) F1070L probably damaging Het
Map4 A G 9: 109,831,814 (GRCm39) E98G possibly damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mki67 A G 7: 135,306,319 (GRCm39) M581T probably benign Het
Mtss2 T A 8: 111,453,960 (GRCm39) N43K possibly damaging Het
Mylk3 T A 8: 86,077,012 (GRCm39) I475F probably damaging Het
Nat14 C T 7: 4,927,073 (GRCm39) R82* probably null Het
Nckap1 T C 2: 80,371,858 (GRCm39) N324S probably benign Het
Nemp1 C T 10: 127,530,391 (GRCm39) T281M possibly damaging Het
Nrg3 A T 14: 38,119,196 (GRCm39) H425Q probably benign Het
Omd T A 13: 49,743,467 (GRCm39) N172K probably damaging Het
Or10c1 T C 17: 37,522,517 (GRCm39) T76A probably benign Het
Or12d12 T A 17: 37,610,444 (GRCm39) T290S probably benign Het
Or4f62 A G 2: 111,986,364 (GRCm39) I23V probably benign Het
Or52a33 A G 7: 103,288,798 (GRCm39) M183T probably damaging Het
Or52r1c A T 7: 102,734,874 (GRCm39) I45F probably benign Het
Or5b123 T C 19: 13,596,730 (GRCm39) V25A probably benign Het
Orc1 T C 4: 108,447,867 (GRCm39) I38T probably benign Het
Oxct1 A G 15: 4,172,304 (GRCm39) T457A possibly damaging Het
Pcdh17 A T 14: 84,715,108 (GRCm39) K924N probably benign Het
Pkhd1l1 A T 15: 44,433,424 (GRCm39) I3435F probably damaging Het
Psg20 C A 7: 18,416,604 (GRCm39) V171F probably damaging Het
Rab11fip2 A T 19: 59,925,531 (GRCm39) S87T probably damaging Het
Rabgap1l T C 1: 160,059,419 (GRCm39) T237A probably benign Het
Rasgrp1 A T 2: 117,122,273 (GRCm39) Y372* probably null Het
Rell1 G T 5: 64,097,048 (GRCm39) probably benign Het
Rps14 A G 18: 60,910,033 (GRCm39) K61E possibly damaging Het
Rtl6 A G 15: 84,441,321 (GRCm39) V25A possibly damaging Het
Ryr2 G T 13: 11,894,382 (GRCm39) S185R probably damaging Het
Slc10a2 C T 8: 5,141,621 (GRCm39) probably null Het
Slc14a1 T A 18: 78,153,273 (GRCm39) probably null Het
Smad2 A T 18: 76,422,233 (GRCm39) N215I probably benign Het
Smchd1 A T 17: 71,677,922 (GRCm39) N1473K probably benign Het
Spag9 A G 11: 93,984,311 (GRCm39) probably null Het
Stk31 A C 6: 49,394,278 (GRCm39) R213S probably benign Het
Tmod4 A T 3: 95,035,617 (GRCm39) Q255L probably benign Het
Tnpo1 T A 13: 99,027,282 (GRCm39) Y3F probably benign Het
Tom1l1 A C 11: 90,552,587 (GRCm39) Y206* probably null Het
Tulp2 A G 7: 45,164,116 (GRCm39) K36E probably damaging Het
Tulp4 C T 17: 6,252,094 (GRCm39) R282C probably damaging Het
Unc5b A T 10: 60,614,110 (GRCm39) N246K possibly damaging Het
Ush2a C G 1: 188,268,567 (GRCm39) S1674R possibly damaging Het
Vmn1r224 T C 17: 20,640,083 (GRCm39) I220T probably benign Het
Vmn1r7 G C 6: 57,001,404 (GRCm39) N285K probably benign Het
Vmn2r83 C T 10: 79,313,688 (GRCm39) P99S probably damaging Het
Zbtb38 A G 9: 96,569,282 (GRCm39) F601L probably benign Het
Zc3h3 A T 15: 75,681,417 (GRCm39) S555T 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
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
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
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'- AAACCACCTGTCCGTGTAGTC -3'
(R):5'- TGGTCAAGAAGCAACCTGTGTG -3'

Sequencing Primer
(F):5'- CTCCAGAGAGTTGCAACTGTG -3'
(R):5'- AACCTGTGTGCTGCCTCAATG -3'
Posted On 2018-03-15