Incidental Mutation 'R0239:Hal'
| ID |
37215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hal
|
| Ensembl Gene |
ENSMUSG00000020017 |
| Gene Name |
histidine ammonia lyase |
| Synonyms |
histidase, Hsd |
| MMRRC Submission |
038477-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R0239 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
93324630-93352623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93339344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 478
(S478P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000129421
AA Change: S478P
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: S478P
| 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
|
| Meta Mutation Damage Score |
0.0922 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
| Validation Efficiency |
100% (3/3) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
TTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCC |
3: 137,771,595 (GRCm39) |
|
probably benign |
Het |
| Adra1d |
C |
A |
2: 131,388,134 (GRCm39) |
V474F |
probably benign |
Het |
| Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
| Ash1l |
A |
G |
3: 88,974,529 (GRCm39) |
D2618G |
possibly damaging |
Het |
| Atp6v1c2 |
C |
A |
12: 17,344,676 (GRCm39) |
|
probably null |
Het |
| Cacna1d |
A |
G |
14: 29,845,453 (GRCm39) |
V572A |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,228,187 (GRCm39) |
W882R |
probably damaging |
Het |
| Cd72 |
A |
G |
4: 43,453,163 (GRCm39) |
V91A |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,586,493 (GRCm39) |
W771R |
probably damaging |
Het |
| Cdx2 |
G |
T |
5: 147,240,097 (GRCm39) |
T193K |
probably damaging |
Het |
| Cfap70 |
A |
C |
14: 20,498,673 (GRCm39) |
S5A |
probably benign |
Het |
| Chmp7 |
A |
G |
14: 69,958,446 (GRCm39) |
V241A |
probably damaging |
Het |
| D3Ertd751e |
A |
G |
3: 41,708,313 (GRCm39) |
Y150C |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,100,584 (GRCm39) |
S832P |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,370,738 (GRCm39) |
S4673G |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,787,539 (GRCm39) |
S818I |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,041,461 (GRCm39) |
Q156* |
probably null |
Het |
| Elp1 |
C |
A |
4: 56,784,596 (GRCm39) |
V466L |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,250,009 (GRCm39) |
V52A |
probably damaging |
Het |
| Flcn |
T |
C |
11: 59,691,902 (GRCm39) |
N249S |
probably benign |
Het |
| Gemin6 |
C |
A |
17: 80,533,139 (GRCm39) |
A24D |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,681,339 (GRCm39) |
H337R |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,816,101 (GRCm39) |
M1324L |
possibly damaging |
Het |
| Hyal5 |
T |
A |
6: 24,876,343 (GRCm39) |
L72Q |
probably damaging |
Het |
| Ift140 |
C |
A |
17: 25,264,497 (GRCm39) |
C557* |
probably null |
Het |
| Kbtbd3 |
G |
T |
9: 4,330,144 (GRCm39) |
V173L |
possibly damaging |
Het |
| Kif14 |
A |
G |
1: 136,455,131 (GRCm39) |
E1551G |
probably damaging |
Het |
| Krt17 |
G |
A |
11: 100,151,704 (GRCm39) |
R30* |
probably null |
Het |
| Lamb3 |
A |
T |
1: 193,003,361 (GRCm39) |
D100V |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,455,265 (GRCm39) |
D1385G |
probably damaging |
Het |
| Mettl25 |
C |
T |
10: 105,662,386 (GRCm39) |
V195I |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,192,518 (GRCm39) |
T1466A |
probably benign |
Het |
| Myo3b |
T |
A |
2: 69,935,769 (GRCm39) |
C61S |
probably benign |
Het |
| Nacc2 |
T |
G |
2: 25,952,273 (GRCm39) |
N361T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,309,400 (GRCm39) |
K438M |
possibly damaging |
Het |
| Nipal4 |
A |
G |
11: 46,041,268 (GRCm39) |
V309A |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,729,018 (GRCm39) |
|
probably null |
Het |
| Nubp2 |
T |
C |
17: 25,103,445 (GRCm39) |
E144G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,957,467 (GRCm39) |
I266F |
probably benign |
Het |
| Or12e7 |
T |
C |
2: 87,288,381 (GRCm39) |
F291L |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,462 (GRCm39) |
Y159H |
probably benign |
Het |
| Or52s1 |
G |
A |
7: 102,861,933 (GRCm39) |
V289M |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,452,843 (GRCm39) |
|
probably null |
Het |
| Otogl |
T |
A |
10: 107,642,557 (GRCm39) |
N1291I |
probably damaging |
Het |
| Pah |
C |
T |
10: 87,403,143 (GRCm39) |
P173S |
possibly damaging |
Het |
| Pga5 |
A |
G |
19: 10,646,817 (GRCm39) |
Y305H |
probably damaging |
Het |
| Plekha4 |
A |
G |
7: 45,181,782 (GRCm39) |
H62R |
probably damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,945,754 (GRCm39) |
D906E |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,256,927 (GRCm39) |
E98G |
possibly damaging |
Het |
| Ptk2 |
A |
T |
15: 73,215,132 (GRCm39) |
|
probably null |
Het |
| Raet1e |
C |
A |
10: 22,056,761 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Scai |
T |
A |
2: 38,965,054 (GRCm39) |
I597F |
probably benign |
Het |
| Sirpd |
A |
G |
3: 15,361,661 (GRCm39) |
L163P |
probably damaging |
Het |
| Slc35c2 |
C |
T |
2: 165,122,757 (GRCm39) |
G176S |
probably damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,541,713 (GRCm39) |
I347N |
possibly damaging |
Het |
| Slc52a3 |
T |
C |
2: 151,850,076 (GRCm39) |
*461Q |
probably null |
Het |
| Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
| Tbc1d31 |
C |
A |
15: 57,804,149 (GRCm39) |
T388N |
probably benign |
Het |
| Tmem63c |
T |
C |
12: 87,122,413 (GRCm39) |
W404R |
probably damaging |
Het |
| Tmem79 |
A |
G |
3: 88,240,628 (GRCm39) |
S107P |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,850,987 (GRCm39) |
E741K |
probably damaging |
Het |
| Trpm5 |
G |
T |
7: 142,636,695 (GRCm39) |
T414N |
probably damaging |
Het |
| Tsnaxip1 |
T |
A |
8: 106,571,120 (GRCm39) |
I660N |
possibly damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,070,291 (GRCm39) |
S78P |
probably damaging |
Het |
| Vac14 |
A |
T |
8: 111,362,007 (GRCm39) |
|
probably null |
Het |
| Vps51 |
G |
T |
19: 6,121,467 (GRCm39) |
S185* |
probably null |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp532 |
A |
T |
18: 65,816,056 (GRCm39) |
I810F |
possibly damaging |
Het |
| Zfp599 |
C |
T |
9: 22,161,055 (GRCm39) |
C370Y |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTCGAGGGGAGACAATTTCAG -3'
(R):5'- GAGAAACATCAGGGCTCCTTCCAAG -3'
Sequencing Primer
(F):5'- GGAGACAATTTCAGGAGGAAAC -3'
(R):5'- TCCTTCCAAGGCAAAAGCTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation