Incidental Mutation 'R6611:Hmbs'
ID |
523584 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hmbs
|
Ensembl Gene |
ENSMUSG00000032126 |
Gene Name |
hydroxymethylbilane synthase |
Synonyms |
Uros1, Ups, porphobilinogen deaminase, PBGD |
MMRRC Submission |
044734-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6611 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
44247645-44255525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44252988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 15
(R15L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077353]
[ENSMUST00000097558]
[ENSMUST00000215091]
[ENSMUST00000216852]
|
AlphaFold |
P22907 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077353
AA Change: R32L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000076575 Gene: ENSMUSG00000032126 AA Change: R32L
Domain | Start | End | E-Value | Type |
Pfam:Porphobil_deam
|
21 |
233 |
1.7e-79 |
PFAM |
Pfam:Porphobil_deamC
|
244 |
323 |
6.8e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097558
AA Change: R15L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000095166 Gene: ENSMUSG00000032126 AA Change: R15L
Domain | Start | End | E-Value | Type |
Pfam:Porphobil_deam
|
3 |
219 |
3.9e-95 |
PFAM |
Pfam:Porphobil_deamC
|
227 |
327 |
4.7e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214012
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214967
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215091
AA Change: R15L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215859
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216852
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215934
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice heterozygous for one null allele and a functional allele with a milder mutation exhibit typical features of acute intermittent porphyria with massive urinary excretion of aminolevulinic acid after phenobarbital treatment, erythruria, ataxia, motor dysfunction, and neurologic muscle atrophy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
A |
T |
6: 40,943,713 (GRCm39) |
T126S |
probably benign |
Het |
Bex6 |
A |
G |
16: 32,005,483 (GRCm39) |
K97R |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,459,658 (GRCm39) |
L311P |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cdc16 |
C |
A |
8: 13,831,512 (GRCm39) |
P582T |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,397,377 (GRCm39) |
I280T |
possibly damaging |
Het |
Cfhr4 |
A |
G |
1: 139,660,128 (GRCm39) |
Y666H |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,143,313 (GRCm39) |
F527L |
probably damaging |
Het |
Drc3 |
G |
T |
11: 60,255,773 (GRCm39) |
R120L |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,777,036 (GRCm39) |
R1133S |
possibly damaging |
Het |
Fer1l5 |
T |
C |
1: 36,445,735 (GRCm39) |
V834A |
probably benign |
Het |
Flnb |
A |
G |
14: 7,915,318 (GRCm38) |
Y1483C |
probably damaging |
Het |
Fstl4 |
A |
T |
11: 53,077,552 (GRCm39) |
M770L |
probably benign |
Het |
Gm10428 |
A |
T |
11: 62,644,115 (GRCm39) |
|
probably benign |
Het |
Irx3 |
T |
C |
8: 92,526,631 (GRCm39) |
T358A |
probably damaging |
Het |
Kmt2a |
T |
A |
9: 44,760,569 (GRCm39) |
I460L |
probably damaging |
Het |
Mob2 |
G |
T |
7: 141,563,293 (GRCm39) |
F55L |
probably damaging |
Het |
Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
Ntrk2 |
T |
C |
13: 59,202,228 (GRCm39) |
L612P |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,955,056 (GRCm39) |
|
probably null |
Het |
Or4d5 |
T |
C |
9: 40,012,316 (GRCm39) |
I157V |
probably benign |
Het |
Or5j1 |
A |
T |
2: 86,879,577 (GRCm39) |
M1K |
probably null |
Het |
Or8b44 |
A |
T |
9: 38,410,534 (GRCm39) |
T190S |
probably damaging |
Het |
Oxct2a |
T |
C |
4: 123,216,640 (GRCm39) |
E247G |
probably damaging |
Het |
Phykpl |
G |
T |
11: 51,489,181 (GRCm39) |
A336S |
probably damaging |
Het |
Pik3r4 |
T |
G |
9: 105,521,476 (GRCm39) |
L14R |
probably damaging |
Het |
Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,320,393 (GRCm39) |
I300T |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,780,140 (GRCm39) |
C132G |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Slc9a9 |
G |
T |
9: 94,821,531 (GRCm39) |
R306L |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,206,283 (GRCm39) |
V681A |
probably benign |
Het |
Snap91 |
C |
T |
9: 86,672,180 (GRCm39) |
S646N |
probably benign |
Het |
Ssh3 |
T |
C |
19: 4,314,450 (GRCm39) |
N368S |
probably damaging |
Het |
Syne1 |
A |
T |
10: 4,995,273 (GRCm39) |
N8326K |
probably benign |
Het |
Traf3 |
T |
G |
12: 111,204,074 (GRCm39) |
L21R |
possibly damaging |
Het |
Ubxn11 |
C |
A |
4: 133,850,910 (GRCm39) |
T254K |
probably damaging |
Het |
|
Other mutations in Hmbs |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01526:Hmbs
|
APN |
9 |
44,250,845 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02312:Hmbs
|
APN |
9 |
44,252,510 (GRCm39) |
critical splice donor site |
probably null |
|
R0386:Hmbs
|
UTSW |
9 |
44,248,305 (GRCm39) |
missense |
probably benign |
0.06 |
R0411:Hmbs
|
UTSW |
9 |
44,252,949 (GRCm39) |
nonsense |
probably null |
|
R0656:Hmbs
|
UTSW |
9 |
44,248,657 (GRCm39) |
missense |
probably benign |
0.31 |
R1503:Hmbs
|
UTSW |
9 |
44,248,729 (GRCm39) |
missense |
probably benign |
0.42 |
R1560:Hmbs
|
UTSW |
9 |
44,248,657 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1953:Hmbs
|
UTSW |
9 |
44,248,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R2127:Hmbs
|
UTSW |
9 |
44,252,004 (GRCm39) |
missense |
probably benign |
0.09 |
R4637:Hmbs
|
UTSW |
9 |
44,250,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R5549:Hmbs
|
UTSW |
9 |
44,250,774 (GRCm39) |
critical splice donor site |
probably null |
|
R7509:Hmbs
|
UTSW |
9 |
44,248,208 (GRCm39) |
missense |
|
|
R7702:Hmbs
|
UTSW |
9 |
44,248,147 (GRCm39) |
splice site |
probably null |
|
R8383:Hmbs
|
UTSW |
9 |
44,249,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R8506:Hmbs
|
UTSW |
9 |
44,252,921 (GRCm39) |
critical splice donor site |
probably null |
|
R9069:Hmbs
|
UTSW |
9 |
44,248,102 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9149:Hmbs
|
UTSW |
9 |
44,252,983 (GRCm39) |
nonsense |
probably null |
|
R9780:Hmbs
|
UTSW |
9 |
44,247,985 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Hmbs
|
UTSW |
9 |
44,249,265 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTACAAGGCAGGCTTTGACC -3'
(R):5'- CCCAAAGGCTAGCATTGAGC -3'
Sequencing Primer
(F):5'- GCTTTGACCACAGGCAAAG -3'
(R):5'- AGAGTCGATTTCATGGGGTACAG -3'
|
Posted On |
2018-06-22 |