Incidental Mutation 'R6370:Hal'
ID |
513488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hal
|
Ensembl Gene |
ENSMUSG00000020017 |
Gene Name |
histidine ammonia lyase |
Synonyms |
histidase, Hsd |
MMRRC Submission |
044520-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R6370 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
93324630-93352623 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93333368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 312
(I312T)
|
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: I312T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123336 Gene: ENSMUSG00000020017 AA Change: I312T
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 |
0.7651 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
95% (54/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb6 |
A |
G |
2: 30,717,024 (GRCm39) |
V67A |
probably damaging |
Het |
Atic |
T |
A |
1: 71,617,819 (GRCm39) |
F590I |
probably damaging |
Het |
Atxn10 |
T |
C |
15: 85,277,586 (GRCm39) |
F351S |
probably damaging |
Het |
Bcl2l13 |
A |
G |
6: 120,842,583 (GRCm39) |
N92S |
probably benign |
Het |
Carm1 |
G |
T |
9: 21,498,815 (GRCm39) |
A518S |
probably benign |
Het |
Ccar1 |
C |
T |
10: 62,600,308 (GRCm39) |
R541H |
probably damaging |
Het |
Cfhr2 |
A |
T |
1: 139,750,065 (GRCm39) |
L96Q |
probably damaging |
Het |
Chrnb4 |
A |
G |
9: 54,942,143 (GRCm39) |
L377S |
probably benign |
Het |
Clcn3 |
A |
G |
8: 61,376,058 (GRCm39) |
Y639H |
probably damaging |
Het |
Cngb1 |
C |
T |
8: 95,991,050 (GRCm39) |
M717I |
probably benign |
Het |
Ctcf |
T |
C |
8: 106,390,852 (GRCm39) |
M153T |
probably benign |
Het |
Cyp2b19 |
T |
C |
7: 26,462,783 (GRCm39) |
S222P |
probably benign |
Het |
Dixdc1 |
A |
T |
9: 50,593,523 (GRCm39) |
|
probably null |
Het |
Entpd2 |
G |
A |
2: 25,287,429 (GRCm39) |
G47S |
probably damaging |
Het |
Erbb3 |
A |
G |
10: 128,405,943 (GRCm39) |
M1158T |
possibly damaging |
Het |
Faah |
T |
C |
4: 115,860,253 (GRCm39) |
D333G |
probably damaging |
Het |
Foxred2 |
T |
A |
15: 77,827,506 (GRCm39) |
T618S |
probably benign |
Het |
Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
Gpx5 |
A |
T |
13: 21,472,872 (GRCm39) |
|
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,646,334 (GRCm39) |
V98A |
probably damaging |
Het |
Krtap21-1 |
T |
C |
16: 89,200,519 (GRCm39) |
Y41C |
unknown |
Het |
Larp6 |
A |
G |
9: 60,644,646 (GRCm39) |
E262G |
probably damaging |
Het |
Lrrn1 |
A |
G |
6: 107,546,185 (GRCm39) |
Y661C |
probably damaging |
Het |
Lsm14a |
A |
G |
7: 34,056,906 (GRCm39) |
V244A |
probably benign |
Het |
Mfrp |
T |
C |
9: 44,017,558 (GRCm39) |
C517R |
probably damaging |
Het |
Mtarc1 |
T |
C |
1: 184,527,689 (GRCm39) |
D257G |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,907,825 (GRCm39) |
S1145P |
probably benign |
Het |
Nosip |
G |
T |
7: 44,726,164 (GRCm39) |
|
probably null |
Het |
Or4c100 |
T |
A |
2: 88,329,712 (GRCm39) |
C94* |
probably null |
Het |
Or51f2 |
A |
T |
7: 102,526,377 (GRCm39) |
T17S |
probably benign |
Het |
Or52n1 |
T |
C |
7: 104,383,124 (GRCm39) |
K149R |
probably benign |
Het |
Phykpl |
T |
C |
11: 51,477,543 (GRCm39) |
S112P |
probably damaging |
Het |
Pik3cb |
A |
T |
9: 98,922,987 (GRCm39) |
I1015K |
probably damaging |
Het |
Pomt2 |
A |
G |
12: 87,155,973 (GRCm39) |
W818R |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,655,293 (GRCm39) |
M558K |
possibly damaging |
Het |
Rnf213 |
T |
A |
11: 119,367,904 (GRCm39) |
N4647K |
probably damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
Rxrg |
T |
C |
1: 167,462,006 (GRCm39) |
V227A |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,089,825 (GRCm39) |
S341T |
possibly damaging |
Het |
Skint5 |
T |
G |
4: 113,471,307 (GRCm39) |
Q983P |
unknown |
Het |
Slc6a18 |
G |
A |
13: 73,816,278 (GRCm39) |
T367I |
probably benign |
Het |
Slc7a1 |
A |
G |
5: 148,277,483 (GRCm39) |
L344P |
probably damaging |
Het |
Slc7a6 |
T |
A |
8: 106,922,069 (GRCm39) |
F399I |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Sugt1 |
T |
C |
14: 79,847,774 (GRCm39) |
V208A |
probably benign |
Het |
Syt3 |
A |
G |
7: 44,045,107 (GRCm39) |
K480E |
probably damaging |
Het |
Thop1 |
C |
T |
10: 80,913,817 (GRCm39) |
T186I |
probably benign |
Het |
Trim55 |
G |
A |
3: 19,745,650 (GRCm39) |
E509K |
possibly damaging |
Het |
Upf2 |
A |
G |
2: 5,980,821 (GRCm39) |
N469S |
unknown |
Het |
Usp24 |
G |
T |
4: 106,237,718 (GRCm39) |
K1125N |
probably null |
Het |
Usp5 |
A |
T |
6: 124,797,391 (GRCm39) |
D494E |
probably benign |
Het |
Vmn2r51 |
T |
C |
7: 9,832,143 (GRCm39) |
K481R |
probably damaging |
Het |
Vps16 |
C |
A |
2: 130,285,304 (GRCm39) |
A787D |
probably damaging |
Het |
Washc4 |
C |
T |
10: 83,407,226 (GRCm39) |
H488Y |
possibly damaging |
Het |
Wdfy4 |
C |
A |
14: 32,790,807 (GRCm39) |
A2053S |
probably benign |
Het |
Zfp74 |
A |
T |
7: 29,631,835 (GRCm39) |
D136E |
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 |
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 |
|
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'- AATCAAGCTCGTGAACCCG -3'
(R):5'- GGCAGTTCTGGATCTTCTCG -3'
Sequencing Primer
(F):5'- GCAGGATCGCCCCACAC -3'
(R):5'- TCCACCTCTGTGCCTAAAAATG -3'
|
Posted On |
2018-04-27 |