Incidental Mutation 'R6081:Btnl4'
| ID |
482932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btnl4
|
| Ensembl Gene |
ENSMUSG00000058435 |
| Gene Name |
butyrophilin-like 4 |
| Synonyms |
NG11, Btn3a3, EG632126 |
| MMRRC Submission |
044240-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34687320-34696402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34693210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Cysteine
at position 68
(W68C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065841]
|
| AlphaFold |
A2CG29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065841
AA Change: W68C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064161
Gene: ENSMUSG00000058435
AA Change: W68C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
145 |
2.44e-7 |
SMART |
|
Pfam:C2-set_2
|
150 |
233 |
3.6e-6 |
PFAM |
|
low complexity region
|
255 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
328 |
N/A |
INTRINSIC |
|
PRY
|
341 |
386 |
7.43e-2 |
SMART |
|
SPRY
|
387 |
510 |
4.67e-20 |
SMART |
|
low complexity region
|
514 |
554 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
| 4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
| Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
| Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
| Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
| Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
| Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
| Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
| Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
| Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
| Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
| Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
| Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
probably benign |
Het |
|
| Other mutations in Btnl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02451:Btnl4
|
APN |
17 |
34,694,901 (GRCm39) |
missense |
probably benign |
0.34 |
|
FR4589:Btnl4
|
UTSW |
17 |
34,691,610 (GRCm39) |
missense |
probably benign |
0.30 |
|
N/A:Btnl4
|
UTSW |
17 |
34,691,560 (GRCm39) |
splice site |
probably benign |
|
|
PIT4458001:Btnl4
|
UTSW |
17 |
34,693,242 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0601:Btnl4
|
UTSW |
17 |
34,688,285 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0718:Btnl4
|
UTSW |
17 |
34,688,608 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1163:Btnl4
|
UTSW |
17 |
34,689,049 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1823:Btnl4
|
UTSW |
17 |
34,694,826 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1954:Btnl4
|
UTSW |
17 |
34,691,904 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1955:Btnl4
|
UTSW |
17 |
34,691,904 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4649:Btnl4
|
UTSW |
17 |
34,691,602 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4651:Btnl4
|
UTSW |
17 |
34,691,602 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4681:Btnl4
|
UTSW |
17 |
34,689,075 (GRCm39) |
splice site |
probably null |
|
|
R6770:Btnl4
|
UTSW |
17 |
34,693,011 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6859:Btnl4
|
UTSW |
17 |
34,688,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Btnl4
|
UTSW |
17 |
34,691,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7265:Btnl4
|
UTSW |
17 |
34,694,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7316:Btnl4
|
UTSW |
17 |
34,688,031 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7454:Btnl4
|
UTSW |
17 |
34,691,348 (GRCm39) |
missense |
probably benign |
|
|
R7908:Btnl4
|
UTSW |
17 |
34,692,161 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7991:Btnl4
|
UTSW |
17 |
34,693,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8086:Btnl4
|
UTSW |
17 |
34,692,976 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8402:Btnl4
|
UTSW |
17 |
34,688,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Btnl4
|
UTSW |
17 |
34,688,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Btnl4
|
UTSW |
17 |
34,694,904 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Btnl4
|
UTSW |
17 |
34,689,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGTTCCAAGATGGCCTC -3'
(R):5'- AGAGTGTGTTCTCTGCATCCTC -3'
Sequencing Primer
(F):5'- AACACTCCTTGCTGGAAGTG -3'
(R):5'- GTGTTCTCTGCATCCTCCTGTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation