Incidental Mutation 'IGL01903:Hal'
ID |
179609 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hal
|
Ensembl Gene |
ENSMUSG00000020017 |
Gene Name |
histidine ammonia lyase |
Synonyms |
histidase, Hsd |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
IGL01903
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
93324630-93352623 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 93336469 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
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
SCOP:d1gkma_
|
114 |
161 |
6e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129421
|
SMART Domains |
Protein: ENSMUSP00000123336 Gene: ENSMUSG00000020017
Domain | Start | End | E-Value | Type |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,949,050 (GRCm39) |
|
probably benign |
Het |
Adad1 |
T |
A |
3: 37,139,231 (GRCm39) |
|
probably null |
Het |
Asxl3 |
T |
A |
18: 22,567,633 (GRCm39) |
D70E |
probably benign |
Het |
Atat1 |
T |
A |
17: 36,208,692 (GRCm39) |
I380L |
probably benign |
Het |
Ccnj |
A |
G |
19: 40,834,454 (GRCm39) |
E351G |
probably damaging |
Het |
Clca4b |
A |
T |
3: 144,634,020 (GRCm39) |
Y132N |
probably damaging |
Het |
Cttnbp2 |
A |
C |
6: 18,501,964 (GRCm39) |
V16G |
probably damaging |
Het |
Gcdh |
A |
T |
8: 85,615,233 (GRCm39) |
L389Q |
probably damaging |
Het |
Ggta1 |
A |
T |
2: 35,292,569 (GRCm39) |
F258Y |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm3696 |
T |
A |
14: 18,434,983 (GRCm39) |
|
probably benign |
Het |
Gramd2b |
A |
T |
18: 56,607,101 (GRCm39) |
S72C |
probably damaging |
Het |
Haus4 |
A |
T |
14: 54,779,886 (GRCm39) |
S288T |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,294,154 (GRCm39) |
K499* |
probably null |
Het |
Hyou1 |
C |
T |
9: 44,292,438 (GRCm39) |
|
probably benign |
Het |
Kng2 |
C |
T |
16: 22,806,540 (GRCm39) |
R553Q |
possibly damaging |
Het |
Leng9 |
G |
A |
7: 4,151,746 (GRCm39) |
A310V |
probably damaging |
Het |
Magi3 |
G |
T |
3: 103,958,526 (GRCm39) |
Q520K |
possibly damaging |
Het |
Mark1 |
A |
G |
1: 184,661,577 (GRCm39) |
|
probably benign |
Het |
Mybl1 |
T |
A |
1: 9,741,801 (GRCm39) |
|
probably null |
Het |
Ncapd2 |
A |
G |
6: 125,154,423 (GRCm39) |
S598P |
probably benign |
Het |
Or14j5 |
T |
C |
17: 37,920,758 (GRCm39) |
I295V |
possibly damaging |
Het |
Or4k47 |
T |
C |
2: 111,452,003 (GRCm39) |
K139E |
probably benign |
Het |
Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
Or5aq1 |
A |
C |
2: 86,965,723 (GRCm39) |
|
probably null |
Het |
Otud6b |
C |
T |
4: 14,818,458 (GRCm39) |
E148K |
probably benign |
Het |
Pgghg |
A |
G |
7: 140,526,741 (GRCm39) |
Q686R |
probably benign |
Het |
Pkhd1 |
C |
A |
1: 20,268,361 (GRCm39) |
C3339F |
probably damaging |
Het |
Pla2g4a |
T |
C |
1: 149,716,370 (GRCm39) |
D697G |
possibly damaging |
Het |
Serping1 |
A |
T |
2: 84,600,116 (GRCm39) |
|
probably null |
Het |
Sfxn4 |
T |
C |
19: 60,847,118 (GRCm39) |
Y55C |
probably damaging |
Het |
Sh3bp5l |
A |
G |
11: 58,236,864 (GRCm39) |
R274G |
probably damaging |
Het |
Snx13 |
A |
G |
12: 35,135,968 (GRCm39) |
T88A |
probably benign |
Het |
Spz1 |
G |
T |
13: 92,711,407 (GRCm39) |
N356K |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,923,412 (GRCm39) |
F288L |
probably benign |
Het |
Tti1 |
T |
C |
2: 157,842,542 (GRCm39) |
E829G |
probably benign |
Het |
Ube2z |
T |
C |
11: 95,955,826 (GRCm39) |
D92G |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r7 |
A |
G |
3: 64,626,864 (GRCm39) |
Y142H |
probably benign |
Het |
Zfp397 |
T |
A |
18: 24,093,086 (GRCm39) |
N190K |
probably benign |
Het |
|
Other mutations in Hal |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
|
Posted On |
2014-05-07 |