Incidental Mutation 'R9161:Btbd16'
| ID |
695699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd16
|
| Ensembl Gene |
ENSMUSG00000040298 |
| Gene Name |
BTB domain containing 16 |
| Synonyms |
E330040A16Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9161 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
130375799-130427629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130417516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 344
(R344C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048453]
[ENSMUST00000124096]
[ENSMUST00000207219]
[ENSMUST00000208593]
|
| AlphaFold |
E9Q173 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048453
AA Change: R344C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: R344C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Blast:BTB
|
97 |
222 |
3e-47 |
BLAST |
|
SCOP:d1buoa_
|
154 |
218 |
2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207219
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208593
AA Change: R328C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
A |
8: 13,272,270 (GRCm39) |
N1496I |
probably damaging |
Het |
| Arglu1 |
T |
C |
8: 8,733,941 (GRCm39) |
E125G |
possibly damaging |
Het |
| Atad2 |
A |
T |
15: 57,989,185 (GRCm39) |
I225N |
possibly damaging |
Het |
| Atrn |
T |
C |
2: 130,777,470 (GRCm39) |
F173S |
probably damaging |
Het |
| BC024063 |
T |
A |
10: 81,945,044 (GRCm39) |
H221Q |
probably benign |
Het |
| Bnip5 |
T |
A |
17: 29,128,387 (GRCm39) |
K175N |
probably damaging |
Het |
| Cdh24 |
A |
T |
14: 54,876,097 (GRCm39) |
Y182N |
probably damaging |
Het |
| Cdkl4 |
A |
G |
17: 80,851,120 (GRCm39) |
L194P |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,408,574 (GRCm39) |
R1327* |
probably null |
Het |
| Ckap5 |
A |
T |
2: 91,445,653 (GRCm39) |
M1797L |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,474,651 (GRCm39) |
N895I |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cotl1 |
G |
T |
8: 120,549,456 (GRCm39) |
D85E |
probably benign |
Het |
| Cryba4 |
A |
C |
5: 112,396,039 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
A |
G |
12: 110,625,023 (GRCm39) |
K3817E |
probably benign |
Het |
| Ehd3 |
A |
T |
17: 74,134,480 (GRCm39) |
R280* |
probably null |
Het |
| Erp29 |
T |
C |
5: 121,583,146 (GRCm39) |
E260G |
possibly damaging |
Het |
| Fam135b |
T |
A |
15: 71,334,417 (GRCm39) |
R926W |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,192,270 (GRCm39) |
N1413S |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,251,727 (GRCm39) |
V262A |
probably damaging |
Het |
| Gabrb1 |
A |
G |
5: 72,187,199 (GRCm39) |
D164G |
probably damaging |
Het |
| Galnt15 |
T |
A |
14: 31,780,116 (GRCm39) |
I471N |
probably damaging |
Het |
| Get1 |
A |
T |
16: 95,953,139 (GRCm39) |
R77W |
probably damaging |
Het |
| Gon4l |
A |
G |
3: 88,808,955 (GRCm39) |
N1733S |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,242,758 (GRCm39) |
T562A |
probably benign |
Het |
| Inha |
A |
G |
1: 75,484,144 (GRCm39) |
I85V |
probably damaging |
Het |
| Kif28 |
A |
C |
1: 179,526,244 (GRCm39) |
V897G |
probably benign |
Het |
| Map1s |
G |
A |
8: 71,366,250 (GRCm39) |
R385H |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,477,503 (GRCm39) |
V1750A |
possibly damaging |
Het |
| Mbd1 |
C |
T |
18: 74,407,792 (GRCm39) |
P273L |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,352,172 (GRCm39) |
T1226A |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,353,026 (GRCm39) |
C791S |
possibly damaging |
Het |
| Nlrc5 |
A |
C |
8: 95,213,274 (GRCm39) |
H883P |
probably damaging |
Het |
| Nrip3 |
C |
T |
7: 109,365,777 (GRCm39) |
R91H |
probably damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,038 (GRCm39) |
V82M |
probably damaging |
Het |
| Or12j3 |
C |
T |
7: 139,952,989 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,699,725 (GRCm39) |
|
probably benign |
Het |
| Or8g21 |
A |
T |
9: 38,905,816 (GRCm39) |
I305K |
possibly damaging |
Het |
| Or8k16 |
A |
G |
2: 85,520,231 (GRCm39) |
T153A |
probably benign |
Het |
| Pdgfrb |
T |
G |
18: 61,197,053 (GRCm39) |
L163R |
probably damaging |
Het |
| Pik3ip1 |
G |
T |
11: 3,281,945 (GRCm39) |
R34L |
possibly damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,615,245 (GRCm39) |
F205S |
possibly damaging |
Het |
| Pttg1ip |
A |
C |
10: 77,425,487 (GRCm39) |
N60T |
probably benign |
Het |
| Rab3ip |
C |
T |
10: 116,750,066 (GRCm39) |
E356K |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,076,682 (GRCm39) |
N249D |
probably benign |
Het |
| Rd3l |
T |
C |
12: 111,946,753 (GRCm39) |
K8E |
probably damaging |
Het |
| Rnf32 |
A |
G |
5: 29,408,058 (GRCm39) |
K96E |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
A |
G |
5: 31,685,474 (GRCm39) |
K251E |
|
Het |
| Spink5 |
T |
A |
18: 44,147,986 (GRCm39) |
N875K |
probably damaging |
Het |
| Taf6 |
G |
T |
5: 138,178,160 (GRCm39) |
A447D |
probably benign |
Het |
| Tbxas1 |
A |
T |
6: 38,999,989 (GRCm39) |
I259F |
probably damaging |
Het |
| Tcap |
G |
T |
11: 98,275,256 (GRCm39) |
R130L |
probably damaging |
Het |
| Tyms |
T |
C |
5: 30,266,040 (GRCm39) |
E293G |
|
Het |
| Vmn1r20 |
C |
A |
6: 57,408,759 (GRCm39) |
F28L |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,864 (GRCm39) |
D308E |
|
Het |
| Vmn2r69 |
T |
A |
7: 85,056,177 (GRCm39) |
I654F |
possibly damaging |
Het |
| Zfp990 |
G |
T |
4: 145,261,509 (GRCm39) |
V52L |
possibly damaging |
Het |
|
| Other mutations in Btbd16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Btbd16
|
APN |
7 |
130,390,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01020:Btbd16
|
APN |
7 |
130,426,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01098:Btbd16
|
APN |
7 |
130,424,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Btbd16
|
APN |
7 |
130,407,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
1mM(1):Btbd16
|
UTSW |
7 |
130,423,221 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0063:Btbd16
|
UTSW |
7 |
130,424,896 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0063:Btbd16
|
UTSW |
7 |
130,424,896 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0147:Btbd16
|
UTSW |
7 |
130,381,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Btbd16
|
UTSW |
7 |
130,387,783 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0715:Btbd16
|
UTSW |
7 |
130,390,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Btbd16
|
UTSW |
7 |
130,386,038 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2411:Btbd16
|
UTSW |
7 |
130,391,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3798:Btbd16
|
UTSW |
7 |
130,378,870 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5595:Btbd16
|
UTSW |
7 |
130,425,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Btbd16
|
UTSW |
7 |
130,425,033 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5839:Btbd16
|
UTSW |
7 |
130,417,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5933:Btbd16
|
UTSW |
7 |
130,386,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6029:Btbd16
|
UTSW |
7 |
130,420,802 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7255:Btbd16
|
UTSW |
7 |
130,387,722 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7355:Btbd16
|
UTSW |
7 |
130,423,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7405:Btbd16
|
UTSW |
7 |
130,407,586 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7527:Btbd16
|
UTSW |
7 |
130,422,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Btbd16
|
UTSW |
7 |
130,426,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8151:Btbd16
|
UTSW |
7 |
130,398,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8429:Btbd16
|
UTSW |
7 |
130,397,067 (GRCm39) |
missense |
probably benign |
|
|
R9142:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9143:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Btbd16
|
UTSW |
7 |
130,381,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9266:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9362:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9392:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9418:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Btbd16
|
UTSW |
7 |
130,407,595 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9611:Btbd16
|
UTSW |
7 |
130,407,595 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0064:Btbd16
|
UTSW |
7 |
130,424,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAGCCTTGCTGGGGAAAC -3'
(R):5'- TACCCAGCATGCTATCAGTG -3'
Sequencing Primer
(F):5'- GGAAACCACTGGTCTCTTAAGTC -3'
(R):5'- CAGCATGCTATCAGTGGACGTTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation