Incidental Mutation 'R8136:Btnl1'
| ID |
643825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btnl1
|
| Ensembl Gene |
ENSMUSG00000062638 |
| Gene Name |
butyrophilin-like 1 |
| Synonyms |
LOC240074, Btnl3, NG10, LOC240074 |
| MMRRC Submission |
067564-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8136 (G1)
|
| Quality Score |
92.0077 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34596106-34605002 bp(+) (GRCm39) |
| Type of Mutation |
splice site (193 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 34599014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080254]
|
| AlphaFold |
Q7TST0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000080254
|
| SMART Domains |
Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.7%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,287,556 (GRCm39) |
M2462L |
probably benign |
Het |
| Aptx |
A |
G |
4: 40,688,107 (GRCm39) |
|
probably null |
Het |
| Bmpr1b |
A |
G |
3: 141,562,143 (GRCm39) |
I348T |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,202,190 (GRCm39) |
D960E |
probably benign |
Het |
| Crygn |
G |
T |
5: 24,956,090 (GRCm39) |
R172S |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,689,654 (GRCm39) |
I450T |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,375,202 (GRCm39) |
Y233C |
probably benign |
Het |
| Esyt2 |
C |
A |
12: 116,327,079 (GRCm39) |
T549K |
probably benign |
Het |
| Garin5a |
T |
C |
7: 44,149,704 (GRCm39) |
F142L |
probably damaging |
Het |
| Gatm |
T |
C |
2: 122,426,018 (GRCm39) |
D411G |
probably damaging |
Het |
| Gpr65 |
T |
C |
12: 98,241,415 (GRCm39) |
Y23H |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,415,321 (GRCm39) |
R1752G |
probably benign |
Het |
| Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,487,439 (GRCm39) |
*543Q |
probably null |
Het |
| Mfsd2a |
A |
T |
4: 122,845,660 (GRCm39) |
C164S |
probably benign |
Het |
| Mta1 |
C |
A |
12: 113,095,298 (GRCm39) |
R484S |
probably damaging |
Het |
| Nlrp9a |
T |
G |
7: 26,256,678 (GRCm39) |
F99V |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,031,537 (GRCm39) |
C1137Y |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,448 (GRCm39) |
M120K |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,780 (GRCm39) |
T316A |
probably benign |
Het |
| Peds1 |
A |
C |
2: 167,486,879 (GRCm39) |
Y167D |
probably benign |
Het |
| Phf11a |
A |
G |
14: 59,515,018 (GRCm39) |
V221A |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,929,602 (GRCm39) |
L327P |
possibly damaging |
Het |
| Rab3c |
A |
T |
13: 110,317,554 (GRCm39) |
Y110* |
probably null |
Het |
| Sdk2 |
G |
A |
11: 113,742,539 (GRCm39) |
T790M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,261,222 (GRCm39) |
K131R |
probably benign |
Het |
| Slc22a2 |
C |
T |
17: 12,824,917 (GRCm39) |
P260S |
probably damaging |
Het |
| Sppl2a |
T |
C |
2: 126,755,201 (GRCm39) |
|
probably null |
Het |
| Tnn |
T |
A |
1: 159,934,630 (GRCm39) |
Q1261L |
probably damaging |
Het |
| Treml4 |
C |
A |
17: 48,571,745 (GRCm39) |
Y49* |
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,851,523 (GRCm39) |
I1827T |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Wls |
C |
A |
3: 159,578,761 (GRCm39) |
Q108K |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,228 (GRCm39) |
V178D |
probably damaging |
Het |
| Zfp777 |
C |
A |
6: 48,021,559 (GRCm39) |
R21L |
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 |
|
R2760:Btnl1
|
UTSW |
17 |
34,600,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTCACAATGTAACTGCCACC -3'
(R):5'- CCACATTAAAGCCTGGGTGTG -3'
Sequencing Primer
(F):5'- TGTAACTGCCACCATCAGAGTTTAAC -3'
(R):5'- TCCCATCTCAAAAGACATGGTGG -3'
|
| Posted On |
2020-08-26 |
Incidental Mutation