Incidental Mutation 'R7963:Btbd18'
| ID |
650205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd18
|
| Ensembl Gene |
ENSMUSG00000086598 |
| Gene Name |
BTB domain containing 18 |
| Synonyms |
|
| MMRRC Submission |
046006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R7963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
84489423-84499124 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84498239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 626
(S626P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053664]
[ENSMUST00000102646]
[ENSMUST00000102647]
[ENSMUST00000111664]
[ENSMUST00000111665]
[ENSMUST00000117299]
[ENSMUST00000133437]
[ENSMUST00000189636]
[ENSMUST00000189772]
[ENSMUST00000189988]
|
| AlphaFold |
A0A0A6YY25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053664
|
| SMART Domains |
Protein: ENSMUSP00000059582
Gene: ENSMUSG00000050043
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
137 |
243 |
3.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102646
|
| SMART Domains |
Protein: ENSMUSP00000099706
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
114 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102647
|
| SMART Domains |
Protein: ENSMUSP00000099707
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
114 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111664
|
| SMART Domains |
Protein: ENSMUSP00000107293
Gene: ENSMUSG00000050043
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
99 |
205 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111665
|
| SMART Domains |
Protein: ENSMUSP00000107294
Gene: ENSMUSG00000050043
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
137 |
243 |
3.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117299
|
| SMART Domains |
Protein: ENSMUSP00000112635
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
114 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133437
AA Change: S626P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000142247
Gene: ENSMUSG00000086598
AA Change: S626P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
132 |
4.96e-11 |
SMART |
|
low complexity region
|
217 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189636
|
| SMART Domains |
Protein: ENSMUSP00000139830
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
109 |
1.7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189772
|
| SMART Domains |
Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
|
ARM
|
397 |
437 |
2.53e-6 |
SMART |
|
ARM
|
440 |
481 |
2.8e-8 |
SMART |
|
ARM
|
482 |
539 |
6.3e1 |
SMART |
|
ARM
|
541 |
588 |
3.74e0 |
SMART |
|
Blast:ARM
|
651 |
693 |
9e-20 |
BLAST |
|
ARM
|
699 |
739 |
1.23e-4 |
SMART |
|
ARM
|
789 |
831 |
4.41e1 |
SMART |
|
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189988
|
| SMART Domains |
Protein: ENSMUSP00000139492
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
96 |
1e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased male germ cell apoptosis and arrested spermiogenesis resulting in azoospermia and male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,340,673 (GRCm39) |
K101E |
probably benign |
Het |
| 4930407I10Rik |
A |
G |
15: 81,948,137 (GRCm39) |
K678R |
possibly damaging |
Het |
| Akr1b10 |
G |
C |
6: 34,364,643 (GRCm39) |
A35P |
possibly damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,306,736 (GRCm39) |
E106G |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,732 (GRCm39) |
Y445C |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,171,967 (GRCm39) |
N1738K |
probably damaging |
Het |
| Cdv3 |
T |
C |
9: 103,241,210 (GRCm39) |
D119G |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,737 (GRCm39) |
F1240L |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Ctsr |
C |
A |
13: 61,310,276 (GRCm39) |
V127L |
probably damaging |
Het |
| Dlg1 |
G |
A |
16: 31,609,119 (GRCm39) |
R271Q |
probably null |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,366 (GRCm39) |
D433E |
probably damaging |
Het |
| Dnajc1 |
G |
A |
2: 18,227,535 (GRCm39) |
T377I |
possibly damaging |
Het |
| F2rl3 |
T |
C |
8: 73,489,333 (GRCm39) |
Y187H |
probably damaging |
Het |
| Fgf1 |
A |
T |
18: 38,980,167 (GRCm39) |
V69E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,844 (GRCm39) |
K171E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Il2ra |
G |
A |
2: 11,679,235 (GRCm39) |
R65H |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,817,947 (GRCm39) |
I2428V |
|
Het |
| Lrp3 |
G |
A |
7: 34,902,404 (GRCm39) |
Q579* |
probably null |
Het |
| Ncoa6 |
G |
A |
2: 155,247,916 (GRCm39) |
T1796I |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,225,359 (GRCm39) |
I747V |
probably benign |
Het |
| Nfkb2 |
C |
T |
19: 46,298,358 (GRCm39) |
T554M |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,116,127 (GRCm39) |
D119G |
probably damaging |
Het |
| Odf2 |
C |
A |
2: 29,816,112 (GRCm39) |
Q720K |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,846,003 (GRCm39) |
V243A |
possibly damaging |
Het |
| Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Or5w1b |
C |
T |
2: 87,475,769 (GRCm39) |
E233K |
probably benign |
Het |
| Or8k33 |
T |
C |
2: 86,383,639 (GRCm39) |
I276M |
possibly damaging |
Het |
| Pcx |
T |
C |
19: 4,652,034 (GRCm39) |
V94A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,694,030 (GRCm39) |
Y131N |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,487,499 (GRCm39) |
H606R |
probably benign |
Het |
| Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,330,173 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc28a3 |
A |
G |
13: 58,724,580 (GRCm39) |
Y225H |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,929,954 (GRCm39) |
M551K |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,312,182 (GRCm39) |
A231D |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,683,887 (GRCm39) |
|
probably null |
Het |
| Stac2 |
T |
C |
11: 97,932,403 (GRCm39) |
T197A |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,067,174 (GRCm39) |
L4291Q |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,095,854 (GRCm39) |
D179E |
probably benign |
Het |
| Zfp597 |
T |
C |
16: 3,689,022 (GRCm39) |
D51G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,793,538 (GRCm39) |
F69L |
probably benign |
Het |
|
| Other mutations in Btbd18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4519:Btbd18
|
UTSW |
2 |
84,497,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Btbd18
|
UTSW |
2 |
84,498,265 (GRCm39) |
nonsense |
probably null |
|
|
R5209:Btbd18
|
UTSW |
2 |
84,498,443 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7126:Btbd18
|
UTSW |
2 |
84,496,546 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7153:Btbd18
|
UTSW |
2 |
84,496,772 (GRCm39) |
nonsense |
probably null |
|
|
R7362:Btbd18
|
UTSW |
2 |
84,491,887 (GRCm39) |
nonsense |
probably null |
|
|
R8094:Btbd18
|
UTSW |
2 |
84,498,260 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8821:Btbd18
|
UTSW |
2 |
84,497,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9279:Btbd18
|
UTSW |
2 |
84,491,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9397:Btbd18
|
UTSW |
2 |
84,497,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9443:Btbd18
|
UTSW |
2 |
84,497,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9696:Btbd18
|
UTSW |
2 |
84,497,854 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Btbd18
|
UTSW |
2 |
84,491,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGTTGAGCCCTTTAGTC -3'
(R):5'- TGTCCAGTCTACCACATCAATC -3'
Sequencing Primer
(F):5'- AGTTGAGCCCTTTAGTCCCCTTG -3'
(R):5'- TCATCTTCAGAACTGCCAGGAAGTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation