Incidental Mutation 'R2760:Btnl1'
| ID |
254021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btnl1
|
| Ensembl Gene |
ENSMUSG00000062638 |
| Gene Name |
butyrophilin-like 1 |
| Synonyms |
Btnl3, LOC240074, LOC240074, NG10 |
| Accession Numbers |
Genbank: NM_001111094; MGI: 1932027 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2760 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34377132-34385776 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 34381038 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 172
(W172G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080254]
|
| AlphaFold |
Q7TST0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080254
AA Change: W172G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: W172G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
IGv
|
48 |
129 |
1.28e-10 |
SMART |
|
Blast:IG_like
|
153 |
223 |
1e-26 |
BLAST |
|
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
389 |
506 |
1.8e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,068,079 (GRCm38) |
A469E |
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 59,860,192 (GRCm38) |
V796I |
probably benign |
Het |
| Ceacam1 |
T |
C |
7: 25,477,474 (GRCm38) |
T21A |
probably damaging |
Het |
| Fam69b |
A |
G |
2: 26,635,825 (GRCm38) |
H257R |
probably benign |
Het |
| Frmpd1 |
A |
C |
4: 45,244,667 (GRCm38) |
I119L |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,583,176 (GRCm38) |
Y819* |
probably null |
Het |
| Ildr2 |
A |
G |
1: 166,303,606 (GRCm38) |
R344G |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,288,570 (GRCm38) |
I642V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Lum |
T |
C |
10: 97,568,771 (GRCm38) |
V176A |
probably benign |
Het |
| Nobox |
A |
G |
6: 43,304,106 (GRCm38) |
L478P |
probably damaging |
Het |
| Olfr1200 |
T |
A |
2: 88,767,636 (GRCm38) |
R226S |
possibly damaging |
Het |
| Olfr1415 |
A |
G |
1: 92,491,080 (GRCm38) |
V225A |
probably damaging |
Het |
| Olfr544 |
T |
C |
7: 102,484,376 (GRCm38) |
H248R |
probably damaging |
Het |
| Olfr8 |
A |
T |
10: 78,956,042 (GRCm38) |
Y279F |
probably damaging |
Het |
| Olfr981 |
T |
A |
9: 40,022,396 (GRCm38) |
M1K |
probably null |
Het |
| Rtn1 |
A |
T |
12: 72,408,362 (GRCm38) |
C64S |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,121,978 (GRCm38) |
Y285C |
probably null |
Het |
| Slco1a5 |
C |
A |
6: 142,250,271 (GRCm38) |
M335I |
probably benign |
Het |
| Spg11 |
A |
T |
2: 122,097,359 (GRCm38) |
I648K |
probably damaging |
Het |
| Ube2cbp |
T |
C |
9: 86,422,974 (GRCm38) |
I272V |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,789,357 (GRCm38) |
R691Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,690,878 (GRCm38) |
V1180A |
probably damaging |
Het |
| Vill |
T |
C |
9: 119,066,882 (GRCm38) |
|
probably null |
Het |
| Vmn2r101 |
T |
C |
17: 19,589,639 (GRCm38) |
I229T |
probably benign |
Het |
| Zbtb8b |
A |
T |
4: 129,432,500 (GRCm38) |
L291M |
probably benign |
Het |
|
| Other mutations in Btnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Btnl1
|
APN |
17 |
34,381,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01743:Btnl1
|
APN |
17 |
34,385,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02194:Btnl1
|
APN |
17 |
34,379,535 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02329:Btnl1
|
APN |
17 |
34,382,265 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL03275:Btnl1
|
APN |
17 |
34,385,512 (GRCm38) |
missense |
probably damaging |
0.99 |
|
3-1:Btnl1
|
UTSW |
17 |
34,381,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0021:Btnl1
|
UTSW |
17 |
34,379,494 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0021:Btnl1
|
UTSW |
17 |
34,379,494 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0371:Btnl1
|
UTSW |
17 |
34,381,057 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1689:Btnl1
|
UTSW |
17 |
34,381,208 (GRCm38) |
nonsense |
probably null |
|
|
R1982:Btnl1
|
UTSW |
17 |
34,379,751 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2109:Btnl1
|
UTSW |
17 |
34,379,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2134:Btnl1
|
UTSW |
17 |
34,385,634 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R4084:Btnl1
|
UTSW |
17 |
34,381,159 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4586:Btnl1
|
UTSW |
17 |
34,382,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4611:Btnl1
|
UTSW |
17 |
34,379,725 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4625:Btnl1
|
UTSW |
17 |
34,379,751 (GRCm38) |
missense |
probably null |
0.99 |
|
R5579:Btnl1
|
UTSW |
17 |
34,381,552 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5811:Btnl1
|
UTSW |
17 |
34,385,529 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6380:Btnl1
|
UTSW |
17 |
34,379,494 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6602:Btnl1
|
UTSW |
17 |
34,385,748 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6633:Btnl1
|
UTSW |
17 |
34,385,331 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8134:Btnl1
|
UTSW |
17 |
34,385,673 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8136:Btnl1
|
UTSW |
17 |
34,380,040 (GRCm38) |
splice site |
probably null |
|
|
R8840:Btnl1
|
UTSW |
17 |
34,385,603 (GRCm38) |
missense |
probably benign |
0.17 |
|
R9120:Btnl1
|
UTSW |
17 |
34,379,707 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9515:Btnl1
|
UTSW |
17 |
34,381,144 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9528:Btnl1
|
UTSW |
17 |
34,384,378 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9577:Btnl1
|
UTSW |
17 |
34,384,361 (GRCm38) |
missense |
probably benign |
0.16 |
|
RF041:Btnl1
|
UTSW |
17 |
34,381,368 (GRCm38) |
missense |
probably benign |
0.04 |
|
X0026:Btnl1
|
UTSW |
17 |
34,377,932 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGTGTCACAGGGTAGC -3'
(R):5'- CCTGTCAGAGTTTGGTCCTC -3'
Sequencing Primer
(F):5'- AGTGTCACAGGGTAGCCTCAG -3'
(R):5'- CGATTTCTCCTGGTCATACATGGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation