Incidental Mutation 'IGL02366:Hal'
| ID |
290723 |
| 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: 0.081)
|
| Stock # |
IGL02366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
93324630-93352623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93339390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 493
(N493S)
|
| 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: N493S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: N493S
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
T |
A |
15: 12,810,859 (GRCm39) |
H339L |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,285,843 (GRCm39) |
|
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,454,994 (GRCm39) |
Y3H |
probably damaging |
Het |
| Armcx4 |
A |
C |
X: 133,592,261 (GRCm39) |
K723T |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,577,481 (GRCm39) |
V172D |
possibly damaging |
Het |
| Cemip |
C |
T |
7: 83,592,849 (GRCm39) |
R1226Q |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 9,984,060 (GRCm39) |
|
probably benign |
Het |
| Cyld |
T |
C |
8: 89,456,381 (GRCm39) |
V474A |
probably damaging |
Het |
| Dhx40 |
T |
C |
11: 86,667,528 (GRCm39) |
E537G |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,030,486 (GRCm39) |
N140D |
probably damaging |
Het |
| Eif6 |
A |
G |
2: 155,668,092 (GRCm39) |
V49A |
probably benign |
Het |
| Epha4 |
G |
T |
1: 77,403,348 (GRCm39) |
Y386* |
probably null |
Het |
| Ggnbp2 |
T |
C |
11: 84,732,427 (GRCm39) |
K222R |
probably damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,887 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5852 |
A |
T |
3: 93,634,568 (GRCm39) |
|
noncoding transcript |
Het |
| Hadha |
A |
G |
5: 30,340,048 (GRCm39) |
V243A |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,717,216 (GRCm39) |
T731A |
possibly damaging |
Het |
| Irs4 |
A |
T |
X: 140,506,900 (GRCm39) |
L432H |
probably damaging |
Het |
| Kdm4a |
T |
G |
4: 118,017,703 (GRCm39) |
|
probably null |
Het |
| Lhx4 |
T |
C |
1: 155,580,934 (GRCm39) |
D197G |
possibly damaging |
Het |
| Mllt10 |
T |
A |
2: 18,069,898 (GRCm39) |
M18K |
probably damaging |
Het |
| Nars1 |
T |
C |
18: 64,636,599 (GRCm39) |
T422A |
possibly damaging |
Het |
| Ncf2 |
A |
G |
1: 152,710,824 (GRCm39) |
D445G |
probably benign |
Het |
| Ndor1 |
C |
A |
2: 25,137,993 (GRCm39) |
G544V |
possibly damaging |
Het |
| Notch3 |
C |
A |
17: 32,363,179 (GRCm39) |
R1268L |
probably benign |
Het |
| Or51ac3 |
A |
T |
7: 103,213,622 (GRCm39) |
V288D |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,491 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or6c202 |
A |
T |
10: 128,996,494 (GRCm39) |
Y120N |
probably damaging |
Het |
| Or8g2 |
T |
C |
9: 39,821,288 (GRCm39) |
L63P |
probably damaging |
Het |
| Osgep |
T |
C |
14: 51,157,407 (GRCm39) |
D72G |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,054,085 (GRCm39) |
T88I |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,038,894 (GRCm39) |
E122G |
possibly damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,855,090 (GRCm39) |
H123R |
probably damaging |
Het |
| Prex1 |
A |
C |
2: 166,422,347 (GRCm39) |
L28R |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,016,813 (GRCm39) |
N595K |
probably benign |
Het |
| Rnf148 |
T |
C |
6: 23,654,058 (GRCm39) |
I313V |
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,346,980 (GRCm39) |
N144S |
probably benign |
Het |
| Sbno2 |
G |
A |
10: 79,900,036 (GRCm39) |
T577I |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,195,941 (GRCm39) |
V354D |
possibly damaging |
Het |
| Slit2 |
A |
T |
5: 48,461,410 (GRCm39) |
T1486S |
possibly damaging |
Het |
| Snd1 |
T |
C |
6: 28,707,149 (GRCm39) |
|
probably benign |
Het |
| Sval3 |
T |
C |
6: 41,946,659 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,688,258 (GRCm39) |
L1239P |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,755,874 (GRCm39) |
|
probably benign |
Het |
| Ttc9 |
A |
C |
12: 81,678,384 (GRCm39) |
D69A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,593,580 (GRCm39) |
L20687M |
probably benign |
Het |
| Zfp748 |
T |
A |
13: 67,693,546 (GRCm39) |
|
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 |
|
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 |
|
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