Incidental Mutation 'R6120:Btd'
| ID |
485730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btd
|
| Ensembl Gene |
ENSMUSG00000021900 |
| Gene Name |
biotinidase |
| Synonyms |
|
| MMRRC Submission |
044268-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R6120 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31363014-31390154 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 31363065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022437]
[ENSMUST00000090147]
[ENSMUST00000127204]
[ENSMUST00000128629]
[ENSMUST00000134626]
[ENSMUST00000165955]
[ENSMUST00000167066]
[ENSMUST00000167175]
[ENSMUST00000156431]
[ENSMUST00000171414]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022437
|
| SMART Domains |
Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
185 |
6.1e-46 |
PFAM |
|
Pfam:TPP_enzyme_M
|
206 |
335 |
1.9e-34 |
PFAM |
|
Pfam:TPP_enzyme_C
|
400 |
560 |
1.6e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090147
|
| SMART Domains |
Protein: ENSMUSP00000087608
Gene: ENSMUSG00000021900
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:CN_hydrolase
|
63 |
287 |
3.9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127204
|
| SMART Domains |
Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
81 |
1.3e-14 |
PFAM |
|
Pfam:TPP_enzyme_N
|
75 |
159 |
3.3e-14 |
PFAM |
|
Pfam:TPP_enzyme_M
|
179 |
310 |
1.5e-34 |
PFAM |
|
Pfam:TPP_enzyme_C
|
373 |
533 |
7.2e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128629
|
| SMART Domains |
Protein: ENSMUSP00000125890
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
10 |
58 |
2.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134626
|
| SMART Domains |
Protein: ENSMUSP00000114879
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
67 |
3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156189
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165955
|
| SMART Domains |
Protein: ENSMUSP00000129090
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
105 |
3.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167066
|
| SMART Domains |
Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
131 |
2.5e-33 |
PFAM |
|
Pfam:TPP_enzyme_M
|
180 |
311 |
4.7e-34 |
PFAM |
|
Pfam:TPP_enzyme_C
|
340 |
500 |
6.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167175
|
| SMART Domains |
Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
139 |
3.6e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156431
|
| SMART Domains |
Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
186 |
3.3e-46 |
PFAM |
|
Pfam:TPP_enzyme_M
|
206 |
337 |
2.1e-34 |
PFAM |
|
Pfam:TPP_enzyme_C
|
400 |
560 |
1.6e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171414
|
| SMART Domains |
Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
109 |
1.3e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.0731 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit behavioral/neurological defects, weakness, bone loss, weight loss, and alopecia when fed a biotin-deprived diet. [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 |
|---|
| 4921524L21Rik |
T |
A |
18: 6,638,795 (GRCm39) |
V398E |
possibly damaging |
Het |
| Ankef1 |
A |
G |
2: 136,392,296 (GRCm39) |
N495S |
probably benign |
Het |
| Bpifb3 |
G |
T |
2: 153,773,363 (GRCm39) |
V428L |
probably benign |
Het |
| Ccdc178 |
A |
G |
18: 22,230,785 (GRCm39) |
L362S |
probably benign |
Het |
| Ccdc33 |
G |
A |
9: 57,993,883 (GRCm39) |
P88S |
probably damaging |
Het |
| Cdk14 |
A |
T |
5: 4,944,029 (GRCm39) |
D385E |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,666,599 (GRCm39) |
L613P |
probably damaging |
Het |
| Cnot3 |
T |
A |
7: 3,648,335 (GRCm39) |
|
probably null |
Het |
| Csf1 |
T |
A |
3: 107,661,170 (GRCm39) |
I116L |
probably damaging |
Het |
| Csrp2 |
G |
T |
10: 110,775,140 (GRCm39) |
A192S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,038,225 (GRCm39) |
T104A |
probably benign |
Het |
| Eml1 |
C |
T |
12: 108,493,983 (GRCm39) |
P593S |
probably damaging |
Het |
| Entpd2 |
T |
A |
2: 25,289,478 (GRCm39) |
I320N |
probably benign |
Het |
| Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,244 (GRCm39) |
T2667A |
probably benign |
Het |
| Fes |
T |
C |
7: 80,030,615 (GRCm39) |
D558G |
probably damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,830,420 (GRCm39) |
T186K |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,267,760 (GRCm39) |
I1203V |
possibly damaging |
Het |
| Gja1 |
T |
A |
10: 56,264,601 (GRCm39) |
M320K |
probably benign |
Het |
| Gm5431 |
A |
G |
11: 48,785,608 (GRCm39) |
Y256H |
probably benign |
Het |
| Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
| Greb1 |
T |
G |
12: 16,758,622 (GRCm39) |
D698A |
probably damaging |
Het |
| Hook2 |
A |
G |
8: 85,724,754 (GRCm39) |
E500G |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 64,989,007 (GRCm39) |
N796I |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 92,952,296 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,087,612 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
C |
T |
3: 67,501,718 (GRCm39) |
Q246* |
probably null |
Het |
| Mkrn3 |
A |
G |
7: 62,069,282 (GRCm39) |
S170P |
probably benign |
Het |
| Ms4a6b |
A |
G |
19: 11,499,059 (GRCm39) |
M58V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,577,169 (GRCm39) |
V2223A |
unknown |
Het |
| Mycbp2 |
A |
T |
14: 103,513,323 (GRCm39) |
V811D |
probably benign |
Het |
| Or5p59 |
A |
T |
7: 107,703,340 (GRCm39) |
N275Y |
probably damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,685 (GRCm39) |
F277L |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,643,031 (GRCm39) |
E436G |
probably damaging |
Het |
| Pet100 |
T |
G |
8: 3,671,764 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
G |
7: 3,844,553 (GRCm39) |
Y493H |
probably damaging |
Het |
| Prkdc |
C |
A |
16: 15,557,335 (GRCm39) |
R2213S |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,045,280 (GRCm39) |
I342T |
possibly damaging |
Het |
| Psmc6 |
A |
G |
14: 45,586,130 (GRCm39) |
E381G |
possibly damaging |
Het |
| Rrm1 |
G |
A |
7: 102,110,063 (GRCm39) |
|
probably null |
Het |
| Sema3c |
A |
G |
5: 17,932,630 (GRCm39) |
D711G |
probably benign |
Het |
| Sgcb |
T |
C |
5: 73,798,153 (GRCm39) |
E103G |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,848 (GRCm39) |
S957P |
probably damaging |
Het |
| Slc26a2 |
A |
G |
18: 61,332,489 (GRCm39) |
V314A |
possibly damaging |
Het |
| Smarca5 |
G |
T |
8: 81,438,372 (GRCm39) |
H655N |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,442,510 (GRCm39) |
S2002T |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,187,544 (GRCm39) |
L192P |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,090,800 (GRCm39) |
M477T |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Vcam1 |
A |
G |
3: 115,918,049 (GRCm39) |
V304A |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,565,003 (GRCm39) |
W297R |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,973 (GRCm39) |
M69L |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,226,515 (GRCm39) |
D771G |
probably damaging |
Het |
|
| Other mutations in Btd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01125:Btd
|
APN |
14 |
31,389,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02728:Btd
|
APN |
14 |
31,389,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02965:Btd
|
APN |
14 |
31,389,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Btd
|
UTSW |
14 |
31,389,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Btd
|
UTSW |
14 |
31,388,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Btd
|
UTSW |
14 |
31,384,246 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1868:Btd
|
UTSW |
14 |
31,389,266 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2225:Btd
|
UTSW |
14 |
31,389,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2418:Btd
|
UTSW |
14 |
31,363,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4660:Btd
|
UTSW |
14 |
31,389,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4727:Btd
|
UTSW |
14 |
31,384,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4923:Btd
|
UTSW |
14 |
31,384,044 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5703:Btd
|
UTSW |
14 |
31,389,004 (GRCm39) |
nonsense |
probably null |
|
|
R5806:Btd
|
UTSW |
14 |
31,389,469 (GRCm39) |
missense |
probably benign |
|
|
R6110:Btd
|
UTSW |
14 |
31,363,065 (GRCm39) |
unclassified |
probably benign |
|
|
R6119:Btd
|
UTSW |
14 |
31,363,065 (GRCm39) |
unclassified |
probably benign |
|
|
R7019:Btd
|
UTSW |
14 |
31,389,063 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7019:Btd
|
UTSW |
14 |
31,389,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Btd
|
UTSW |
14 |
31,389,788 (GRCm39) |
missense |
probably benign |
|
|
R7837:Btd
|
UTSW |
14 |
31,388,784 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8176:Btd
|
UTSW |
14 |
31,384,073 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8249:Btd
|
UTSW |
14 |
31,387,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Btd
|
UTSW |
14 |
31,388,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Btd
|
UTSW |
14 |
31,384,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9465:Btd
|
UTSW |
14 |
31,389,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTAGCCTAAGAGTTGTTGTTG -3'
(R):5'- TAGCTTGCCTCCAATCAGCG -3'
Sequencing Primer
(F):5'- TTGTTGGTGACACCCGC -3'
(R):5'- TGCCTCCAATCAGCGGGAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation