Incidental Mutation 'R3936:Btnl6'
| ID |
307191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btnl6
|
| Ensembl Gene |
ENSMUSG00000092618 |
| Gene Name |
butyrophilin-like 6 |
| Synonyms |
Gm6519, NG13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34726778-34736326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34736316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 4
(H4L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075483]
|
| AlphaFold |
A2CG22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075483
AA Change: H4L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: H4L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
145 |
2.06e-5 |
SMART |
|
SCOP:d1c5ch2
|
151 |
222 |
1e-2 |
SMART |
|
Blast:IG_like
|
152 |
228 |
2e-23 |
BLAST |
|
transmembrane domain
|
252 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
|
SPRY
|
384 |
509 |
1.23e-19 |
SMART |
|
low complexity region
|
510 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173164
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,715,819 (GRCm39) |
K491* |
probably null |
Het |
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,159,209 (GRCm39) |
N203S |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,001,482 (GRCm39) |
L3835F |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,065 (GRCm39) |
|
probably null |
Het |
| G6pc1 |
A |
G |
11: 101,265,429 (GRCm39) |
I154V |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,734,418 (GRCm39) |
E1222* |
probably null |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Gzmk |
A |
T |
13: 113,309,559 (GRCm39) |
S164T |
probably damaging |
Het |
| Il22ra2 |
T |
A |
10: 19,507,456 (GRCm39) |
S156R |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,216 (GRCm39) |
I146N |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,821,359 (GRCm39) |
M1L |
probably benign |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Rptn |
A |
C |
3: 93,302,883 (GRCm39) |
H72P |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,427,193 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,192 (GRCm39) |
E726G |
possibly damaging |
Het |
| Treh |
C |
T |
9: 44,595,840 (GRCm39) |
R342W |
probably benign |
Het |
|
| Other mutations in Btnl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02127:Btnl6
|
APN |
17 |
34,733,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02501:Btnl6
|
APN |
17 |
34,734,648 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02539:Btnl6
|
APN |
17 |
34,727,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02629:Btnl6
|
APN |
17 |
34,733,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02724:Btnl6
|
APN |
17 |
34,727,149 (GRCm39) |
nonsense |
probably null |
|
|
IGL03366:Btnl6
|
APN |
17 |
34,727,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Btnl6
|
UTSW |
17 |
34,734,505 (GRCm39) |
nonsense |
probably null |
|
|
R0025:Btnl6
|
UTSW |
17 |
34,733,273 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0144:Btnl6
|
UTSW |
17 |
34,732,994 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0255:Btnl6
|
UTSW |
17 |
34,727,477 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1474:Btnl6
|
UTSW |
17 |
34,732,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Btnl6
|
UTSW |
17 |
34,733,062 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1838:Btnl6
|
UTSW |
17 |
34,734,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2149:Btnl6
|
UTSW |
17 |
34,733,321 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2994:Btnl6
|
UTSW |
17 |
34,734,498 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3441:Btnl6
|
UTSW |
17 |
34,727,292 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3809:Btnl6
|
UTSW |
17 |
34,727,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4462:Btnl6
|
UTSW |
17 |
34,727,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Btnl6
|
UTSW |
17 |
34,727,435 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4618:Btnl6
|
UTSW |
17 |
34,733,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4832:Btnl6
|
UTSW |
17 |
34,732,966 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5369:Btnl6
|
UTSW |
17 |
34,726,959 (GRCm39) |
nonsense |
probably null |
|
|
R5422:Btnl6
|
UTSW |
17 |
34,733,081 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6046:Btnl6
|
UTSW |
17 |
34,727,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Btnl6
|
UTSW |
17 |
34,734,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6385:Btnl6
|
UTSW |
17 |
34,727,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8213:Btnl6
|
UTSW |
17 |
34,727,857 (GRCm39) |
splice site |
probably null |
|
|
R8676:Btnl6
|
UTSW |
17 |
34,727,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8895:Btnl6
|
UTSW |
17 |
34,734,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9654:Btnl6
|
UTSW |
17 |
34,733,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Btnl6
|
UTSW |
17 |
34,732,635 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACACACTGTAAATGGAAAGCTGG -3'
(R):5'- TAGTATGGAGCCTTCACCCTG -3'
Sequencing Primer
(F):5'- TGCACATCTGACCTACAG -3'
(R):5'- CTTCACCCTGTGAGCATGGATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation