Incidental Mutation 'R8459:Hal'
| ID |
655188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hal
|
| Ensembl Gene |
ENSMUSG00000020017 |
| Gene Name |
histidine ammonia lyase |
| Synonyms |
histidase, Hsd |
| MMRRC Submission |
067836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R8459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
93324630-93352623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93352177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 656
(D656G)
|
| 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
AA Change: D656G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: D656G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
3 |
128 |
6e-9 |
PFAM |
|
Pfam:Lyase_aromatic
|
116 |
590 |
1.3e-199 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
CTTGTTGT |
CTTGT |
1: 173,289,536 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,605,528 (GRCm39) |
V1132A |
probably damaging |
Het |
| Bpifb9a |
T |
G |
2: 154,102,153 (GRCm39) |
S83R |
probably damaging |
Het |
| Cacnb3 |
C |
T |
15: 98,537,393 (GRCm39) |
R24C |
probably damaging |
Het |
| Car8 |
C |
T |
4: 8,189,302 (GRCm39) |
V171I |
probably benign |
Het |
| Cd200l1 |
T |
A |
16: 45,238,271 (GRCm39) |
H294L |
probably benign |
Het |
| Cdk17 |
G |
C |
10: 93,068,289 (GRCm39) |
V349L |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,829 (GRCm39) |
E1104G |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,515,597 (GRCm39) |
D108G |
probably benign |
Het |
| Cluap1 |
T |
C |
16: 3,755,453 (GRCm39) |
M356T |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,143 (GRCm39) |
V162A |
possibly damaging |
Het |
| Cryge |
T |
C |
1: 65,087,841 (GRCm39) |
D156G |
possibly damaging |
Het |
| Disc1 |
A |
C |
8: 125,891,894 (GRCm39) |
D649A |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,944,221 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
C |
A |
2: 25,242,550 (GRCm39) |
V468F |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,821,379 (GRCm39) |
V1207A |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,856,757 (GRCm39) |
F1163S |
unknown |
Het |
| Fbrs |
C |
T |
7: 127,082,329 (GRCm39) |
R327W |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,810,022 (GRCm39) |
Y2114N |
possibly damaging |
Het |
| Gnas |
A |
T |
2: 174,126,732 (GRCm39) |
H89L |
probably benign |
Het |
| Gstt1 |
G |
A |
10: 75,629,943 (GRCm39) |
R107W |
probably damaging |
Het |
| Htra3 |
G |
A |
5: 35,828,569 (GRCm39) |
|
probably benign |
Het |
| Ighv1-64 |
G |
A |
12: 115,471,256 (GRCm39) |
A87V |
probably benign |
Het |
| Itga3 |
A |
G |
11: 94,959,633 (GRCm39) |
V80A |
probably benign |
Het |
| Lrrc58 |
A |
G |
16: 37,698,872 (GRCm39) |
N280D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,374,107 (GRCm39) |
E1501G |
possibly damaging |
Het |
| Madd |
A |
G |
2: 90,992,871 (GRCm39) |
I1016T |
probably benign |
Het |
| Mbnl1 |
T |
G |
3: 60,529,628 (GRCm39) |
S260R |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,348 (GRCm39) |
Q100L |
probably damaging |
Het |
| Phip |
G |
T |
9: 82,758,106 (GRCm39) |
A1529D |
probably benign |
Het |
| Pramel58 |
A |
G |
5: 94,830,742 (GRCm39) |
D80G |
probably damaging |
Het |
| Prorsd1 |
T |
C |
11: 29,463,286 (GRCm39) |
T159A |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,878,933 (GRCm39) |
R67L |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,703,481 (GRCm39) |
L518* |
probably null |
Het |
| Slc26a11 |
T |
A |
11: 119,259,643 (GRCm39) |
I280N |
possibly damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,676 (GRCm39) |
T66A |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,374,277 (GRCm39) |
R177* |
probably null |
Het |
| Vmn1r16 |
A |
C |
6: 57,300,347 (GRCm39) |
C92G |
probably benign |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,235 (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 |
|
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 |
|
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'- GGGGCAAAGCTCATGTTTCATC -3'
(R):5'- AAACAAGATCAGGGCTCTGG -3'
Sequencing Primer
(F):5'- TGTAGCAAACACCTTGTCCATG -3'
(R):5'- CAAGATCAGGGCTCTGGGTTCAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation