Incidental Mutation 'R0123:Btbd9'
| ID |
60474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd9
|
| Ensembl Gene |
ENSMUSG00000062202 |
| Gene Name |
BTB domain containing 9 |
| Synonyms |
1700023F20Rik |
| MMRRC Submission |
038408-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0123 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
30434498-30795462 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30493916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 492
(D492N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079924]
[ENSMUST00000168787]
|
| AlphaFold |
Q8C726 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079924
AA Change: D492N
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078845
Gene: ENSMUSG00000062202
AA Change: D492N
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
36 |
137 |
3.52e-25 |
SMART |
|
BACK
|
143 |
240 |
1.84e-18 |
SMART |
|
Pfam:F5_F8_type_C
|
283 |
405 |
3.9e-11 |
PFAM |
|
Pfam:F5_F8_type_C
|
431 |
554 |
6.3e-12 |
PFAM |
|
low complexity region
|
585 |
612 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168787
AA Change: D492N
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127300
Gene: ENSMUSG00000062202
AA Change: D492N
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
36 |
137 |
3.52e-25 |
SMART |
|
BACK
|
143 |
240 |
1.84e-18 |
SMART |
|
Pfam:F5_F8_type_C
|
278 |
405 |
1.1e-8 |
PFAM |
|
Pfam:F5_F8_type_C
|
433 |
554 |
1.4e-8 |
PFAM |
|
low complexity region
|
585 |
612 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5135 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
99% (71/72) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele show hyperactivity, unidirectional circling, sleep disturbances, thermal sensory alterations, increased serum iron levels, altered serotonin metabolism, enhanced long-term potentiation and paired-pulse ratios, and enhanced cued and contextual fear memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
C |
19: 21,575,565 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,139,378 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,476,584 (GRCm39) |
R105Q |
probably damaging |
Het |
| Becn1 |
A |
G |
11: 101,181,324 (GRCm39) |
Y326H |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,448 (GRCm39) |
I387T |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,300,302 (GRCm39) |
H2156L |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,566,533 (GRCm39) |
|
probably benign |
Het |
| Cd59b |
G |
A |
2: 103,909,286 (GRCm39) |
|
probably null |
Het |
| Chn2 |
T |
C |
6: 54,267,436 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,412 (GRCm39) |
L892P |
possibly damaging |
Het |
| Col5a2 |
A |
G |
1: 45,446,195 (GRCm39) |
I461T |
probably benign |
Het |
| Cts8 |
T |
A |
13: 61,401,391 (GRCm39) |
M75L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,457,156 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,197,274 (GRCm39) |
M1558V |
probably benign |
Het |
| Dnlz |
T |
C |
2: 26,241,380 (GRCm39) |
N116S |
probably damaging |
Het |
| Efcab14 |
T |
C |
4: 115,597,728 (GRCm39) |
F108L |
probably damaging |
Het |
| Ell2 |
T |
C |
13: 75,910,259 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
T |
G |
6: 135,194,072 (GRCm39) |
S242A |
possibly damaging |
Het |
| Fhip2a |
G |
A |
19: 57,369,839 (GRCm39) |
D461N |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,896,816 (GRCm39) |
T608A |
possibly damaging |
Het |
| Gata3 |
T |
C |
2: 9,879,620 (GRCm39) |
T119A |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,865,180 (GRCm39) |
D131E |
probably benign |
Het |
| Hira |
T |
A |
16: 18,774,921 (GRCm39) |
F949I |
probably benign |
Het |
| Il3 |
A |
G |
11: 54,156,506 (GRCm39) |
|
probably null |
Het |
| Itgb3 |
A |
T |
11: 104,527,914 (GRCm39) |
K216N |
probably damaging |
Het |
| Jkampl |
A |
G |
6: 73,446,402 (GRCm39) |
L49P |
possibly damaging |
Het |
| Kctd21 |
T |
A |
7: 96,997,298 (GRCm39) |
I257N |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,514,295 (GRCm39) |
S1215T |
probably benign |
Het |
| Lhx9 |
A |
T |
1: 138,766,417 (GRCm39) |
C124S |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,782,124 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,486,995 (GRCm39) |
E142G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,636 (GRCm39) |
M2835V |
possibly damaging |
Het |
| Mndal |
A |
T |
1: 173,685,079 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
G |
T |
6: 122,051,673 (GRCm39) |
V952L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,276,533 (GRCm39) |
T29S |
probably damaging |
Het |
| Nlgn1 |
C |
T |
3: 25,490,089 (GRCm39) |
C546Y |
probably damaging |
Het |
| Notch4 |
C |
T |
17: 34,784,337 (GRCm39) |
R43W |
possibly damaging |
Het |
| Nrxn1 |
A |
T |
17: 91,302,915 (GRCm39) |
|
probably null |
Het |
| Or14a260 |
A |
G |
7: 85,984,803 (GRCm39) |
I267T |
probably benign |
Het |
| Or8k53 |
T |
C |
2: 86,178,072 (GRCm39) |
I13V |
possibly damaging |
Het |
| Phf3 |
A |
T |
1: 30,844,146 (GRCm39) |
D1604E |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,312,700 (GRCm39) |
R53G |
probably benign |
Het |
| Pnp2 |
T |
C |
14: 51,200,634 (GRCm39) |
F100S |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,776 (GRCm39) |
K263E |
probably damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,564,783 (GRCm39) |
S327P |
probably damaging |
Het |
| Siah2 |
A |
G |
3: 58,583,536 (GRCm39) |
V250A |
probably damaging |
Het |
| Slc10a7 |
T |
A |
8: 79,423,787 (GRCm39) |
|
probably null |
Het |
| Slc9a1 |
A |
G |
4: 133,147,916 (GRCm39) |
K645E |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,548,620 (GRCm39) |
L302P |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,552 (GRCm39) |
Y211* |
probably null |
Het |
| Tenm3 |
A |
T |
8: 49,127,507 (GRCm39) |
L57Q |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,067,150 (GRCm39) |
V2269I |
possibly damaging |
Het |
| Tpd52l1 |
A |
G |
10: 31,255,252 (GRCm39) |
S32P |
probably damaging |
Het |
| Tsfm |
A |
G |
10: 126,858,798 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,540,468 (GRCm39) |
R34173W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,623,474 (GRCm39) |
V15368L |
possibly damaging |
Het |
| Upk1a |
A |
T |
7: 30,311,819 (GRCm39) |
I25N |
possibly damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,492 (GRCm39) |
Y159* |
probably null |
Het |
| Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,887,407 (GRCm39) |
I3272T |
probably benign |
Het |
| Zfp108 |
A |
G |
7: 23,959,892 (GRCm39) |
H161R |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,597,093 (GRCm39) |
K150I |
probably benign |
Het |
| Zfyve1 |
A |
G |
12: 83,601,847 (GRCm39) |
|
probably benign |
Het |
| Zswim8 |
T |
C |
14: 20,766,558 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Btbd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01519:Btbd9
|
APN |
17 |
30,518,575 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01651:Btbd9
|
APN |
17 |
30,439,391 (GRCm39) |
missense |
unknown |
|
|
IGL01814:Btbd9
|
APN |
17 |
30,518,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01820:Btbd9
|
APN |
17 |
30,746,383 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02014:Btbd9
|
APN |
17 |
30,736,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02075:Btbd9
|
APN |
17 |
30,493,910 (GRCm39) |
nonsense |
probably null |
|
|
IGL02390:Btbd9
|
APN |
17 |
30,743,788 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02414:Btbd9
|
APN |
17 |
30,439,533 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02748:Btbd9
|
APN |
17 |
30,553,271 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
crumbs
|
UTSW |
17 |
30,518,710 (GRCm39) |
splice site |
probably null |
|
|
grain
|
UTSW |
17 |
30,493,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0023:Btbd9
|
UTSW |
17 |
30,749,188 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0023:Btbd9
|
UTSW |
17 |
30,749,188 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0122:Btbd9
|
UTSW |
17 |
30,493,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0134:Btbd9
|
UTSW |
17 |
30,493,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0189:Btbd9
|
UTSW |
17 |
30,493,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0190:Btbd9
|
UTSW |
17 |
30,493,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0226:Btbd9
|
UTSW |
17 |
30,493,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0268:Btbd9
|
UTSW |
17 |
30,493,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0344:Btbd9
|
UTSW |
17 |
30,493,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0427:Btbd9
|
UTSW |
17 |
30,493,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0462:Btbd9
|
UTSW |
17 |
30,749,191 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0645:Btbd9
|
UTSW |
17 |
30,743,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0973:Btbd9
|
UTSW |
17 |
30,518,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0973:Btbd9
|
UTSW |
17 |
30,518,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0974:Btbd9
|
UTSW |
17 |
30,518,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1061:Btbd9
|
UTSW |
17 |
30,746,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1763:Btbd9
|
UTSW |
17 |
30,553,271 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1781:Btbd9
|
UTSW |
17 |
30,732,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Btbd9
|
UTSW |
17 |
30,749,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1995:Btbd9
|
UTSW |
17 |
30,493,904 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2224:Btbd9
|
UTSW |
17 |
30,746,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2237:Btbd9
|
UTSW |
17 |
30,553,302 (GRCm39) |
missense |
probably benign |
|
|
R3684:Btbd9
|
UTSW |
17 |
30,553,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3800:Btbd9
|
UTSW |
17 |
30,732,633 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4403:Btbd9
|
UTSW |
17 |
30,704,906 (GRCm39) |
intron |
probably benign |
|
|
R4492:Btbd9
|
UTSW |
17 |
30,746,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4654:Btbd9
|
UTSW |
17 |
30,704,561 (GRCm39) |
intron |
probably benign |
|
|
R4854:Btbd9
|
UTSW |
17 |
30,743,839 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5710:Btbd9
|
UTSW |
17 |
30,447,842 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5963:Btbd9
|
UTSW |
17 |
30,553,192 (GRCm39) |
splice site |
probably null |
|
|
R6295:Btbd9
|
UTSW |
17 |
30,518,710 (GRCm39) |
splice site |
probably null |
|
|
R6422:Btbd9
|
UTSW |
17 |
30,749,230 (GRCm39) |
missense |
probably benign |
|
|
R7023:Btbd9
|
UTSW |
17 |
30,746,546 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7826:Btbd9
|
UTSW |
17 |
30,553,301 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7922:Btbd9
|
UTSW |
17 |
30,493,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7962:Btbd9
|
UTSW |
17 |
30,736,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8265:Btbd9
|
UTSW |
17 |
30,553,278 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8786:Btbd9
|
UTSW |
17 |
30,749,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9541:Btbd9
|
UTSW |
17 |
30,439,438 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9591:Btbd9
|
UTSW |
17 |
30,736,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9703:Btbd9
|
UTSW |
17 |
30,749,200 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGGGAATGCGCTTCACCTC -3'
(R):5'- TCTCCACGGCAGGTTATCTTACCAG -3'
Sequencing Primer
(F):5'- GCAGGACACTTTCGTTCTGT -3'
(R):5'- GTACACATTAGCATCCGTTGG -3'
|
| Posted On |
2013-07-24 |
Incidental Mutation