Incidental Mutation 'IGL02421:Hal'
ID292660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hal
Ensembl Gene ENSMUSG00000020017
Gene Namehistidine ammonia lyase
Synonymshistidase, Hsd
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02421
Quality Score
Status
Chromosome10
Chromosomal Location93488768-93519304 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93503473 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 475 (C475R)
Ref Sequence ENSEMBL: ENSMUSP00000123336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016031] [ENSMUST00000129421]
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: C475R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: C475R

DomainStartEndE-ValueType
Pfam:DUF3534 3 128 6e-9 PFAM
Pfam:Lyase_aromatic 116 590 1.3e-199 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152883
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 155,050,752 F117S probably damaging Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acacb A G 5: 114,223,878 T1394A probably benign Het
Adam19 A G 11: 46,137,553 N671S probably damaging Het
Akap13 A T 7: 75,717,806 N1815I possibly damaging Het
Aloxe3 A G 11: 69,130,046 D199G possibly damaging Het
Ap1g2 G A 14: 55,102,402 A440V probably damaging Het
Bmt2 G T 6: 13,628,842 Q281K probably damaging Het
Celsr3 T C 9: 108,840,463 F2243L probably damaging Het
Cenpb G A 2: 131,179,681 R66C probably damaging Het
Chl1 A T 6: 103,717,580 H1121L probably damaging Het
Cpb1 T C 3: 20,251,984 Y344C probably damaging Het
Cspg5 T A 9: 110,247,392 probably benign Het
Dnah11 T C 12: 118,186,902 N374D probably damaging Het
Dnah3 A G 7: 119,950,992 V3368A possibly damaging Het
Eml4 T C 17: 83,477,892 S829P probably benign Het
Gm14548 T C 7: 3,896,995 N203D possibly damaging Het
Got2-ps1 T C 5: 138,364,549 noncoding transcript Het
Mapkbp1 C T 2: 120,019,655 P806S possibly damaging Het
Mmrn1 A T 6: 60,944,822 T88S probably benign Het
Napsa A G 7: 44,585,055 H237R probably damaging Het
Olfr1215 T C 2: 89,001,344 probably null Het
Olfr412 T C 11: 74,365,191 I174T probably damaging Het
Olfr568 T C 7: 102,877,759 I213T probably damaging Het
Olfr661 A G 7: 104,688,533 N173D probably benign Het
Opn5 C T 17: 42,596,555 probably benign Het
Polb C T 8: 22,640,373 G179D probably damaging Het
Primpol G T 8: 46,607,795 probably benign Het
Prom2 T A 2: 127,531,882 probably null Het
Psmb10 A G 8: 105,937,492 probably null Het
Ranbp2 T G 10: 58,480,554 S2365R probably damaging Het
Sgce G A 6: 4,694,187 probably benign Het
Slc25a34 A G 4: 141,621,442 V237A probably benign Het
Slc39a2 A T 14: 51,893,872 T25S probably benign Het
Smarca4 T C 9: 21,639,239 C423R probably damaging Het
Stt3b G A 9: 115,251,852 probably benign Het
Tbl1xr1 A T 3: 22,203,163 I397F probably damaging Het
Tie1 A G 4: 118,486,394 V117A probably damaging Het
Tmc3 T C 7: 83,622,744 F1035L probably benign Het
Trhde T A 10: 114,412,461 K944N probably damaging Het
Vmn1r54 G A 6: 90,269,151 A16T probably benign Het
Washc4 T A 10: 83,579,550 N801K probably damaging Het
Xylt2 A G 11: 94,667,762 Y523H possibly damaging Het
Znfx1 T C 2: 167,060,080 R5G probably damaging Het
Other mutations in Hal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Hal APN 10 93490069 critical splice donor site probably null
IGL01528:Hal APN 10 93497593 missense probably damaging 1.00
IGL01818:Hal APN 10 93490984 missense probably damaging 0.99
IGL01903:Hal APN 10 93500607 splice site probably benign
IGL02152:Hal APN 10 93503542 missense possibly damaging 0.74
IGL02249:Hal APN 10 93497538 missense probably damaging 0.99
IGL02366:Hal APN 10 93503528 missense probably damaging 1.00
IGL02721:Hal APN 10 93507498 nonsense probably null
2k1 UTSW 10 93514143 critical splice donor site probably null
alger UTSW 10 93507551 critical splice donor site probably null
Whittaker UTSW 10 93516284 missense probably benign
R0048:Hal UTSW 10 93498991 missense probably damaging 1.00
R0238:Hal UTSW 10 93503482 missense possibly damaging 0.61
R0238:Hal UTSW 10 93503482 missense possibly damaging 0.61
R0239:Hal UTSW 10 93503482 missense possibly damaging 0.61
R0239:Hal UTSW 10 93503482 missense possibly damaging 0.61
R0372:Hal UTSW 10 93507553 splice site probably benign
R0465:Hal UTSW 10 93516284 missense probably benign
R0504:Hal UTSW 10 93489174 missense probably damaging 0.99
R1357:Hal UTSW 10 93500623 missense probably damaging 0.96
R1623:Hal UTSW 10 93516297 missense probably benign 0.00
R1757:Hal UTSW 10 93494628 missense probably benign 0.14
R1918:Hal UTSW 10 93496607 missense probably damaging 1.00
R2048:Hal UTSW 10 93491140 missense probably damaging 0.98
R2291:Hal UTSW 10 93503536 missense probably damaging 0.98
R3001:Hal UTSW 10 93507519 missense probably damaging 1.00
R3002:Hal UTSW 10 93507519 missense probably damaging 1.00
R3927:Hal UTSW 10 93514026 splice site probably benign
R3948:Hal UTSW 10 93489907 missense possibly damaging 0.94
R4394:Hal UTSW 10 93496559 intron probably benign
R4623:Hal UTSW 10 93507439 missense probably damaging 1.00
R4922:Hal UTSW 10 93503539 missense probably damaging 1.00
R5018:Hal UTSW 10 93507551 critical splice donor site probably null
R5072:Hal UTSW 10 93514042 missense probably damaging 0.99
R5073:Hal UTSW 10 93514042 missense probably damaging 0.99
R5074:Hal UTSW 10 93514042 missense probably damaging 0.99
R5303:Hal UTSW 10 93516365 utr 3 prime probably benign
R5806:Hal UTSW 10 93490984 missense probably damaging 0.97
R5992:Hal UTSW 10 93490916 missense probably damaging 1.00
R6294:Hal UTSW 10 93514143 critical splice donor site probably null
R6370:Hal UTSW 10 93497506 missense probably damaging 1.00
R6747:Hal UTSW 10 93500677 missense probably damaging 1.00
R7142:Hal UTSW 10 93500651 missense possibly damaging 0.85
R7299:Hal UTSW 10 93492561 missense probably benign 0.00
R7301:Hal UTSW 10 93492561 missense probably benign 0.00
Posted On2015-04-16