Incidental Mutation 'R2760:Btnl1'
| ID |
254021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btnl1
|
| Ensembl Gene |
ENSMUSG00000062638 |
| Gene Name |
butyrophilin-like 1 |
| Synonyms |
LOC240074, Btnl3, NG10, LOC240074 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2760 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34596106-34605002 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 34600012 bp (GRCm39)
|
| 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: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,097,641 (GRCm39) |
V796I |
probably benign |
Het |
| Ceacam1 |
T |
C |
7: 25,176,899 (GRCm39) |
T21A |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,525,837 (GRCm39) |
H257R |
probably benign |
Het |
| Frmpd1 |
A |
C |
4: 45,244,667 (GRCm39) |
I119L |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,501,413 (GRCm39) |
Y819* |
probably null |
Het |
| Ildr2 |
A |
G |
1: 166,131,175 (GRCm39) |
R344G |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,291 (GRCm39) |
I642V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lum |
T |
C |
10: 97,404,633 (GRCm39) |
V176A |
probably benign |
Het |
| Nobox |
A |
G |
6: 43,281,040 (GRCm39) |
L478P |
probably damaging |
Het |
| Or10g6 |
T |
A |
9: 39,933,692 (GRCm39) |
M1K |
probably null |
Het |
| Or4a67 |
T |
A |
2: 88,597,980 (GRCm39) |
R226S |
possibly damaging |
Het |
| Or55b4 |
T |
C |
7: 102,133,583 (GRCm39) |
H248R |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,802 (GRCm39) |
V225A |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,876 (GRCm39) |
Y279F |
probably damaging |
Het |
| Rtn1 |
A |
T |
12: 72,455,136 (GRCm39) |
C64S |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,029,260 (GRCm39) |
Y285C |
probably null |
Het |
| Slco1a5 |
C |
A |
6: 142,195,997 (GRCm39) |
M335I |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,927,840 (GRCm39) |
I648K |
probably damaging |
Het |
| Ube3d |
T |
C |
9: 86,305,027 (GRCm39) |
I272V |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,566,622 (GRCm39) |
V1180A |
probably damaging |
Het |
| Vill |
T |
C |
9: 118,895,950 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,901 (GRCm39) |
I229T |
probably benign |
Het |
| Zbtb8b |
A |
T |
4: 129,326,293 (GRCm39) |
L291M |
probably benign |
Het |
|
| Other mutations in Btnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Btnl1
|
APN |
17 |
34,600,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Btnl1
|
APN |
17 |
34,604,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02194:Btnl1
|
APN |
17 |
34,598,509 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02329:Btnl1
|
APN |
17 |
34,601,239 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03275:Btnl1
|
APN |
17 |
34,604,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
3-1:Btnl1
|
UTSW |
17 |
34,600,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Btnl1
|
UTSW |
17 |
34,598,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0021:Btnl1
|
UTSW |
17 |
34,598,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0371:Btnl1
|
UTSW |
17 |
34,600,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1689:Btnl1
|
UTSW |
17 |
34,600,182 (GRCm39) |
nonsense |
probably null |
|
|
R1982:Btnl1
|
UTSW |
17 |
34,598,725 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2109:Btnl1
|
UTSW |
17 |
34,598,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Btnl1
|
UTSW |
17 |
34,604,608 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4084:Btnl1
|
UTSW |
17 |
34,600,133 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4586:Btnl1
|
UTSW |
17 |
34,601,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Btnl1
|
UTSW |
17 |
34,598,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4625:Btnl1
|
UTSW |
17 |
34,598,725 (GRCm39) |
missense |
probably null |
0.99 |
|
R5579:Btnl1
|
UTSW |
17 |
34,600,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5811:Btnl1
|
UTSW |
17 |
34,604,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Btnl1
|
UTSW |
17 |
34,598,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6602:Btnl1
|
UTSW |
17 |
34,604,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6633:Btnl1
|
UTSW |
17 |
34,604,305 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8134:Btnl1
|
UTSW |
17 |
34,604,647 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8136:Btnl1
|
UTSW |
17 |
34,599,014 (GRCm39) |
splice site |
probably null |
|
|
R8840:Btnl1
|
UTSW |
17 |
34,604,577 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9120:Btnl1
|
UTSW |
17 |
34,598,681 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9515:Btnl1
|
UTSW |
17 |
34,600,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9528:Btnl1
|
UTSW |
17 |
34,603,352 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9577:Btnl1
|
UTSW |
17 |
34,603,335 (GRCm39) |
missense |
probably benign |
0.16 |
|
RF041:Btnl1
|
UTSW |
17 |
34,600,342 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0026:Btnl1
|
UTSW |
17 |
34,596,906 (GRCm39) |
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