Incidental Mutation 'R6952:Btbd10'
| ID |
568477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd10
|
| Ensembl Gene |
ENSMUSG00000038187 |
| Gene Name |
BTB domain containing 10 |
| Synonyms |
Gmrp1, 1110056N09Rik |
| MMRRC Submission |
045064-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R6952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
112914833-112968599 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 112951150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047091]
[ENSMUST00000117577]
[ENSMUST00000119278]
[ENSMUST00000135510]
|
| AlphaFold |
Q80X66 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047091
|
| SMART Domains |
Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
147 |
N/A |
INTRINSIC |
|
BTB
|
167 |
272 |
1.58e-4 |
SMART |
|
low complexity region
|
311 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117577
|
| SMART Domains |
Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
155 |
N/A |
INTRINSIC |
|
BTB
|
175 |
280 |
1.58e-4 |
SMART |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119278
|
| SMART Domains |
Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
99 |
N/A |
INTRINSIC |
|
BTB
|
119 |
224 |
1.58e-4 |
SMART |
|
low complexity region
|
263 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135510
|
| SMART Domains |
Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
147 |
N/A |
INTRINSIC |
|
SCOP:d1t1da_
|
167 |
198 |
3e-6 |
SMART |
|
Blast:BTB
|
167 |
200 |
1e-15 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
All alleles(12) : Targeted(2) Gene trapped(10)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
G |
16: 20,368,484 (GRCm39) |
|
probably null |
Het |
| Acap1 |
C |
A |
11: 69,776,343 (GRCm39) |
V219L |
probably benign |
Het |
| Arpp21 |
G |
A |
9: 111,955,550 (GRCm39) |
P530S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,731,792 (GRCm39) |
V224A |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,344,371 (GRCm39) |
D453G |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,713,657 (GRCm39) |
H498R |
probably damaging |
Het |
| Cga |
A |
T |
4: 34,905,171 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Chd7 |
A |
T |
4: 8,856,797 (GRCm39) |
H136L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,071,022 (GRCm39) |
Y34H |
probably damaging |
Het |
| Cimap2 |
C |
G |
4: 106,467,596 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,362,895 (GRCm39) |
V3819G |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,658,216 (GRCm39) |
I276F |
possibly damaging |
Het |
| Dusp1 |
T |
C |
17: 26,726,577 (GRCm39) |
S162G |
probably benign |
Het |
| Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
| Gga2 |
C |
A |
7: 121,598,111 (GRCm39) |
A328S |
probably benign |
Het |
| Gpr183 |
A |
G |
14: 122,191,897 (GRCm39) |
I208T |
possibly damaging |
Het |
| Haspin |
T |
C |
11: 73,026,971 (GRCm39) |
D706G |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,095,786 (GRCm39) |
I338V |
probably benign |
Het |
| Ik |
C |
T |
18: 36,886,613 (GRCm39) |
R362C |
probably damaging |
Het |
| Kdm4c |
T |
G |
4: 74,275,587 (GRCm39) |
C754W |
probably damaging |
Het |
| Limk1 |
T |
A |
5: 134,699,332 (GRCm39) |
I142F |
possibly damaging |
Het |
| Mccc2 |
T |
C |
13: 100,104,234 (GRCm39) |
E305G |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 118,003,962 (GRCm39) |
D639G |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,528,744 (GRCm39) |
T566P |
probably damaging |
Het |
| Mep1b |
G |
A |
18: 21,221,727 (GRCm39) |
V226I |
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,553,064 (GRCm39) |
M19T |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 46,835,693 (GRCm39) |
S243T |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,229,197 (GRCm39) |
R169Q |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,801,668 (GRCm39) |
I917V |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,971 (GRCm39) |
M67K |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,100,209 (GRCm39) |
L159P |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,056,482 (GRCm39) |
E371G |
probably damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,495,377 (GRCm39) |
D21E |
probably benign |
Het |
| Slc47a1 |
T |
A |
11: 61,235,280 (GRCm39) |
M518L |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,987,974 (GRCm39) |
T578A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,974,205 (GRCm39) |
K1133N |
possibly damaging |
Het |
| Taco1 |
T |
C |
11: 105,963,942 (GRCm39) |
S234P |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,771,263 (GRCm39) |
S422F |
probably damaging |
Het |
| Tvp23b |
T |
A |
11: 62,775,952 (GRCm39) |
D97E |
possibly damaging |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,523 (GRCm39) |
I13L |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,485,597 (GRCm39) |
K130N |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,681,923 (GRCm39) |
R3016Q |
probably damaging |
Het |
| Zfp383 |
T |
C |
7: 29,614,380 (GRCm39) |
S212P |
probably benign |
Het |
|
| Other mutations in Btbd10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01087:Btbd10
|
APN |
7 |
112,915,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03223:Btbd10
|
APN |
7 |
112,931,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
beatitude
|
UTSW |
7 |
112,927,626 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Decile
|
UTSW |
7 |
112,931,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pacifist
|
UTSW |
7 |
112,921,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Btbd10
|
UTSW |
7 |
112,932,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0022:Btbd10
|
UTSW |
7 |
112,924,988 (GRCm39) |
nonsense |
probably null |
|
|
R0022:Btbd10
|
UTSW |
7 |
112,924,988 (GRCm39) |
nonsense |
probably null |
|
|
R0136:Btbd10
|
UTSW |
7 |
112,929,085 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0299:Btbd10
|
UTSW |
7 |
112,929,085 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0599:Btbd10
|
UTSW |
7 |
112,934,516 (GRCm39) |
splice site |
probably benign |
|
|
R0657:Btbd10
|
UTSW |
7 |
112,929,085 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1401:Btbd10
|
UTSW |
7 |
112,946,266 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2916:Btbd10
|
UTSW |
7 |
112,932,031 (GRCm39) |
missense |
probably benign |
|
|
R3429:Btbd10
|
UTSW |
7 |
112,951,016 (GRCm39) |
nonsense |
probably null |
|
|
R3430:Btbd10
|
UTSW |
7 |
112,951,016 (GRCm39) |
nonsense |
probably null |
|
|
R4578:Btbd10
|
UTSW |
7 |
112,921,959 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4626:Btbd10
|
UTSW |
7 |
112,927,605 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5067:Btbd10
|
UTSW |
7 |
112,925,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5480:Btbd10
|
UTSW |
7 |
112,915,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Btbd10
|
UTSW |
7 |
112,931,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Btbd10
|
UTSW |
7 |
112,946,266 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6877:Btbd10
|
UTSW |
7 |
112,921,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Btbd10
|
UTSW |
7 |
112,929,129 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8175:Btbd10
|
UTSW |
7 |
112,921,999 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8725:Btbd10
|
UTSW |
7 |
112,927,626 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8727:Btbd10
|
UTSW |
7 |
112,927,626 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8837:Btbd10
|
UTSW |
7 |
112,929,133 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8969:Btbd10
|
UTSW |
7 |
112,925,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Btbd10
|
UTSW |
7 |
112,921,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9020:Btbd10
|
UTSW |
7 |
112,951,057 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9025:Btbd10
|
UTSW |
7 |
112,951,031 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0027:Btbd10
|
UTSW |
7 |
112,915,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Btbd10
|
UTSW |
7 |
112,931,896 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCAGGTTGTTGAACAGAGCTTTG -3'
(R):5'- ACTGGTATATCAGGTGCAAAGTAC -3'
Sequencing Primer
(F):5'- GTTGAACAGAGCTTTGATATGGG -3'
(R):5'- TCAGGTGCAAAGTACATTTAAACG -3'
|
| Posted On |
2019-08-05 |
Incidental Mutation