Incidental Mutation 'IGL02249:Hal'
| ID |
286312 |
| 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 # |
IGL02249
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
93324630-93352623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93333400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 323
(A323T)
|
| 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 damaging
Transcript: ENSMUST00000129421
AA Change: A323T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: A323T
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
A |
1: 53,224,431 (GRCm39) |
K23* |
probably null |
Het |
| Abca1 |
A |
T |
4: 53,068,739 (GRCm39) |
L1333* |
probably null |
Het |
| Adcy6 |
C |
A |
15: 98,497,795 (GRCm39) |
M452I |
probably damaging |
Het |
| Adsl |
G |
A |
15: 80,844,676 (GRCm39) |
R173H |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,718,200 (GRCm39) |
T484A |
probably damaging |
Het |
| Apol10a |
A |
G |
15: 77,372,709 (GRCm39) |
D115G |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,092,828 (GRCm39) |
S529P |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,083,484 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
A |
6: 18,277,870 (GRCm39) |
I956N |
possibly damaging |
Het |
| Cwc15 |
A |
G |
9: 14,414,977 (GRCm39) |
T110A |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,594,361 (GRCm39) |
I497F |
possibly damaging |
Het |
| Gadd45b |
A |
G |
10: 80,766,967 (GRCm39) |
D69G |
possibly damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,742,564 (GRCm39) |
S307R |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,532,961 (GRCm39) |
G843R |
probably damaging |
Het |
| H2-M11 |
A |
T |
17: 36,858,829 (GRCm39) |
Y123F |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,166,396 (GRCm39) |
F47L |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,367 (GRCm39) |
N96Y |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,555,623 (GRCm39) |
I283M |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,251 (GRCm39) |
M928L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,930,847 (GRCm39) |
V607D |
probably damaging |
Het |
| Ndufaf2 |
A |
G |
13: 108,217,925 (GRCm39) |
W74R |
probably damaging |
Het |
| Noc4l |
C |
A |
5: 110,801,081 (GRCm39) |
|
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,309,573 (GRCm39) |
I295F |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,307,772 (GRCm39) |
W274R |
probably damaging |
Het |
| Pax3 |
C |
T |
1: 78,171,962 (GRCm39) |
V83I |
probably damaging |
Het |
| Prmt5 |
C |
T |
14: 54,747,322 (GRCm39) |
R485H |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,418,220 (GRCm39) |
Y1719H |
probably damaging |
Het |
| Ranbp2 |
A |
T |
10: 58,315,900 (GRCm39) |
I2207F |
possibly damaging |
Het |
| Rock2 |
T |
A |
12: 17,021,042 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,867,961 (GRCm39) |
R124H |
probably damaging |
Het |
| Serpina1e |
G |
A |
12: 103,917,393 (GRCm39) |
T92M |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,768,667 (GRCm39) |
L83P |
probably benign |
Het |
| Tm9sf2 |
C |
T |
14: 122,361,162 (GRCm39) |
S68L |
probably damaging |
Het |
| Tmem178 |
A |
G |
17: 81,297,235 (GRCm39) |
T206A |
probably damaging |
Het |
| Tmem207 |
A |
T |
16: 26,336,617 (GRCm39) |
Y46N |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,703 (GRCm39) |
L429P |
probably damaging |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation