Incidental Mutation 'R6008:Btnl9'
| ID |
479605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btnl9
|
| Ensembl Gene |
ENSMUSG00000040283 |
| Gene Name |
butyrophilin-like 9 |
| Synonyms |
D330012D11Rik |
| MMRRC Submission |
044185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6008 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 49073792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046522]
[ENSMUST00000046522]
[ENSMUST00000066531]
[ENSMUST00000066531]
[ENSMUST00000153999]
[ENSMUST00000153999]
|
| AlphaFold |
Q8BJE2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046522
|
| SMART Domains |
Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
44 |
151 |
1.24e-8 |
SMART |
|
Pfam:Ig_2
|
155 |
243 |
9.2e-3 |
PFAM |
|
Pfam:C2-set_2
|
156 |
238 |
1.7e-9 |
PFAM |
|
transmembrane domain
|
259 |
281 |
N/A |
INTRINSIC |
|
PRY
|
324 |
377 |
8.68e-14 |
SMART |
|
SPRY
|
378 |
503 |
1.3e-18 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000046522
|
| SMART Domains |
Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
44 |
151 |
1.24e-8 |
SMART |
|
Pfam:Ig_2
|
155 |
243 |
9.2e-3 |
PFAM |
|
Pfam:C2-set_2
|
156 |
238 |
1.7e-9 |
PFAM |
|
transmembrane domain
|
259 |
281 |
N/A |
INTRINSIC |
|
PRY
|
324 |
377 |
8.68e-14 |
SMART |
|
SPRY
|
378 |
503 |
1.3e-18 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000066531
|
| SMART Domains |
Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
44 |
151 |
1.24e-8 |
SMART |
|
Pfam:Ig_3
|
155 |
231 |
1e-4 |
PFAM |
|
Pfam:C2-set_2
|
156 |
238 |
2.2e-6 |
PFAM |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
PRY
|
419 |
462 |
3.61e-2 |
SMART |
|
SPRY
|
463 |
588 |
1.3e-18 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000066531
|
| SMART Domains |
Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
44 |
151 |
1.24e-8 |
SMART |
|
Pfam:Ig_3
|
155 |
231 |
1e-4 |
PFAM |
|
Pfam:C2-set_2
|
156 |
238 |
2.2e-6 |
PFAM |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
PRY
|
419 |
462 |
3.61e-2 |
SMART |
|
SPRY
|
463 |
588 |
1.3e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128462
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153999
|
| SMART Domains |
Protein: ENSMUSP00000120530
Gene: ENSMUSG00000040283
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
44 |
151 |
1.24e-8 |
SMART |
|
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153999
|
| SMART Domains |
Protein: ENSMUSP00000120530
Gene: ENSMUSG00000040283
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
44 |
151 |
1.24e-8 |
SMART |
|
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9481 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,727,978 (GRCm39) |
L1268P |
possibly damaging |
Het |
| Acot3 |
T |
A |
12: 84,103,860 (GRCm39) |
V223E |
probably damaging |
Het |
| Afap1 |
T |
G |
5: 36,154,895 (GRCm39) |
S680A |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,116,672 (GRCm39) |
A801V |
probably damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,710,687 (GRCm39) |
T155K |
probably damaging |
Het |
| Bard1 |
C |
A |
1: 71,069,909 (GRCm39) |
V690F |
possibly damaging |
Het |
| C1rl |
A |
G |
6: 124,470,147 (GRCm39) |
N13S |
probably benign |
Het |
| Cad |
C |
A |
5: 31,226,456 (GRCm39) |
T1166K |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,393,334 (GRCm39) |
M405K |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,825,944 (GRCm39) |
|
probably null |
Het |
| Ctnna2 |
A |
G |
6: 76,892,811 (GRCm39) |
L792P |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,438,929 (GRCm39) |
V1099D |
possibly damaging |
Het |
| Dnai2 |
A |
G |
11: 114,643,816 (GRCm39) |
N482S |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,583,890 (GRCm39) |
T184A |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,340,546 (GRCm39) |
L68H |
probably damaging |
Het |
| Edn3 |
A |
G |
2: 174,621,525 (GRCm39) |
T149A |
probably benign |
Het |
| Erf |
C |
T |
7: 24,945,041 (GRCm39) |
V131M |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,865,118 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,937,099 (GRCm39) |
V161A |
probably benign |
Het |
| Gpr17 |
T |
A |
18: 32,080,530 (GRCm39) |
T178S |
probably benign |
Het |
| Gsg1l2 |
T |
A |
11: 67,665,537 (GRCm39) |
I35N |
possibly damaging |
Het |
| Hmgn3 |
T |
A |
9: 82,994,284 (GRCm39) |
T46S |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,325,717 (GRCm39) |
I4709L |
probably benign |
Het |
| Ifna9 |
A |
T |
4: 88,510,600 (GRCm39) |
L8Q |
probably null |
Het |
| Iftap |
A |
T |
2: 101,413,898 (GRCm39) |
M133K |
possibly damaging |
Het |
| Kpna4 |
T |
C |
3: 69,034,066 (GRCm39) |
E125G |
probably null |
Het |
| Lrriq1 |
A |
G |
10: 103,006,325 (GRCm39) |
S1267P |
probably damaging |
Het |
| Mab21l1 |
G |
T |
3: 55,690,518 (GRCm39) |
C35F |
possibly damaging |
Het |
| Map3k2 |
A |
G |
18: 32,336,104 (GRCm39) |
D97G |
probably damaging |
Het |
| Matcap2 |
G |
A |
9: 22,335,422 (GRCm39) |
W13* |
probably null |
Het |
| Mdn1 |
T |
A |
4: 32,741,073 (GRCm39) |
I3799N |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,299,158 (GRCm39) |
R1959C |
probably damaging |
Het |
| Mroh1 |
A |
T |
15: 76,335,557 (GRCm39) |
H1400L |
possibly damaging |
Het |
| Mroh4 |
T |
A |
15: 74,497,321 (GRCm39) |
K167* |
probably null |
Het |
| Mroh8 |
A |
G |
2: 157,094,984 (GRCm39) |
I334T |
probably benign |
Het |
| Or51a25 |
T |
A |
7: 102,373,574 (GRCm39) |
Y41F |
probably damaging |
Het |
| Phf11d |
T |
A |
14: 59,602,898 (GRCm39) |
|
probably benign |
Het |
| Phf21a |
C |
T |
2: 92,182,097 (GRCm39) |
T342I |
possibly damaging |
Het |
| Pira12 |
G |
T |
7: 3,897,599 (GRCm39) |
H499N |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,055,591 (GRCm39) |
E483G |
possibly damaging |
Het |
| Ppp1r3b |
G |
A |
8: 35,851,355 (GRCm39) |
A65T |
probably damaging |
Het |
| Pramel30 |
C |
T |
4: 144,057,777 (GRCm39) |
T128I |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,496,158 (GRCm39) |
V961A |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,711,561 (GRCm39) |
E96G |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,086,025 (GRCm39) |
E522V |
probably damaging |
Het |
| Socs4 |
T |
G |
14: 47,527,618 (GRCm39) |
C184W |
probably damaging |
Het |
| Spdye4c |
A |
T |
2: 128,438,553 (GRCm39) |
I304F |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,789,306 (GRCm39) |
I1249V |
possibly damaging |
Het |
| Sys1 |
T |
C |
2: 164,306,507 (GRCm39) |
S154P |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,755,530 (GRCm39) |
Q275R |
possibly damaging |
Het |
| Tas2r107 |
A |
G |
6: 131,636,875 (GRCm39) |
V58A |
possibly damaging |
Het |
| Thada |
T |
A |
17: 84,744,062 (GRCm39) |
I749F |
probably damaging |
Het |
| Tubb1 |
T |
A |
2: 174,299,567 (GRCm39) |
H416Q |
probably benign |
Het |
| Vmn2r109 |
G |
A |
17: 20,760,981 (GRCm39) |
T792I |
probably damaging |
Het |
| Zfp988 |
A |
G |
4: 147,416,259 (GRCm39) |
Q231R |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,684,707 (GRCm39) |
I182V |
possibly damaging |
Het |
| Zzz3 |
T |
C |
3: 152,133,788 (GRCm39) |
V282A |
probably benign |
Het |
|
| Other mutations in Btnl9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01155:Btnl9
|
APN |
11 |
49,066,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01923:Btnl9
|
APN |
11 |
49,071,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02129:Btnl9
|
APN |
11 |
49,060,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02248:Btnl9
|
APN |
11 |
49,071,625 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02795:Btnl9
|
APN |
11 |
49,065,694 (GRCm39) |
splice site |
probably benign |
|
|
IGL02889:Btnl9
|
APN |
11 |
49,069,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Btnl9
|
UTSW |
11 |
49,060,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0084:Btnl9
|
UTSW |
11 |
49,069,606 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0362:Btnl9
|
UTSW |
11 |
49,060,443 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0417:Btnl9
|
UTSW |
11 |
49,066,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Btnl9
|
UTSW |
11 |
49,071,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1260:Btnl9
|
UTSW |
11 |
49,060,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1802:Btnl9
|
UTSW |
11 |
49,066,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2000:Btnl9
|
UTSW |
11 |
49,059,948 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2068:Btnl9
|
UTSW |
11 |
49,060,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2130:Btnl9
|
UTSW |
11 |
49,071,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2142:Btnl9
|
UTSW |
11 |
49,061,453 (GRCm39) |
splice site |
probably null |
|
|
R2229:Btnl9
|
UTSW |
11 |
49,059,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Btnl9
|
UTSW |
11 |
49,060,143 (GRCm39) |
nonsense |
probably null |
|
|
R2386:Btnl9
|
UTSW |
11 |
49,069,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Btnl9
|
UTSW |
11 |
49,060,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Btnl9
|
UTSW |
11 |
49,060,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3835:Btnl9
|
UTSW |
11 |
49,071,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Btnl9
|
UTSW |
11 |
49,060,434 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5352:Btnl9
|
UTSW |
11 |
49,069,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5433:Btnl9
|
UTSW |
11 |
49,066,830 (GRCm39) |
intron |
probably benign |
|
|
R5490:Btnl9
|
UTSW |
11 |
49,060,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5576:Btnl9
|
UTSW |
11 |
49,069,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6770:Btnl9
|
UTSW |
11 |
49,066,392 (GRCm39) |
splice site |
probably null |
|
|
R7126:Btnl9
|
UTSW |
11 |
49,060,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Btnl9
|
UTSW |
11 |
49,066,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7787:Btnl9
|
UTSW |
11 |
49,066,866 (GRCm39) |
missense |
unknown |
|
|
R7923:Btnl9
|
UTSW |
11 |
49,071,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8050:Btnl9
|
UTSW |
11 |
49,066,442 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8558:Btnl9
|
UTSW |
11 |
49,071,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8788:Btnl9
|
UTSW |
11 |
49,066,614 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8945:Btnl9
|
UTSW |
11 |
49,065,661 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9105:Btnl9
|
UTSW |
11 |
49,066,461 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9656:Btnl9
|
UTSW |
11 |
49,060,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Btnl9
|
UTSW |
11 |
49,060,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Btnl9
|
UTSW |
11 |
49,066,805 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAATTCCAAAACCCTGAGTGG -3'
(R):5'- CAGCACCATGAGTTCCAATGG -3'
Sequencing Primer
(F):5'- CCTGAGTGGGAATCTTTTGGC -3'
(R):5'- GCTATGAGCTTGATATGGAACTCCAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation