Incidental Mutation 'R9527:Bicdl1'
| ID |
719309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicdl1
|
| Ensembl Gene |
ENSMUSG00000041609 |
| Gene Name |
BICD family like cargo adaptor 1 |
| Synonyms |
2210403N09Rik, BICDR-1, Ccdc64 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.372)
|
| Stock # |
R9527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
115786234-115869680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115811188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 241
(N241I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055408]
[ENSMUST00000141950]
[ENSMUST00000148276]
|
| AlphaFold |
A0JNT9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055408
AA Change: N241I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: N241I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
68 |
N/A |
INTRINSIC |
|
Pfam:HAP1_N
|
97 |
162 |
2e-11 |
PFAM |
|
low complexity region
|
305 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
410 |
N/A |
INTRINSIC |
|
coiled coil region
|
467 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141950
AA Change: N177I
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609
AA Change: N177I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
35 |
99 |
4.5e-11 |
PFAM |
|
coiled coil region
|
192 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148276
|
| SMART Domains |
Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
coiled coil region
|
178 |
284 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
G |
2: 127,886,284 (GRCm39) |
D453G |
probably benign |
Het |
| Aqr |
A |
C |
2: 113,932,037 (GRCm39) |
S1443R |
probably benign |
Het |
| Atr |
T |
C |
9: 95,767,429 (GRCm39) |
M1162T |
probably damaging |
Het |
| Catip |
A |
G |
1: 74,401,637 (GRCm39) |
N38S |
probably benign |
Het |
| Cct6b |
A |
G |
11: 82,630,447 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
T |
4: 126,453,792 (GRCm39) |
R72* |
probably null |
Het |
| Cntln |
A |
G |
4: 84,892,120 (GRCm39) |
Q335R |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 120,899,528 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
G |
13: 9,544,875 (GRCm39) |
N55D |
unknown |
Het |
| Dnajc5b |
A |
T |
3: 19,633,248 (GRCm39) |
D157V |
probably damaging |
Het |
| Exoc6 |
T |
G |
19: 37,558,987 (GRCm39) |
D86E |
probably benign |
Het |
| Fam204a |
A |
T |
19: 60,208,992 (GRCm39) |
H87Q |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,617 (GRCm39) |
W1388R |
probably damaging |
Het |
| Hcn2 |
A |
T |
10: 79,570,706 (GRCm39) |
I642F |
probably benign |
Het |
| Igsf9 |
C |
A |
1: 172,323,244 (GRCm39) |
L653M |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,481,991 (GRCm39) |
E38G |
probably benign |
Het |
| Kirrel1 |
C |
A |
3: 86,996,912 (GRCm39) |
E297* |
probably null |
Het |
| Krt82 |
G |
A |
15: 101,454,558 (GRCm39) |
T222I |
probably benign |
Het |
| Lysmd1 |
T |
C |
3: 95,042,156 (GRCm39) |
L10P |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,305,242 (GRCm39) |
S509P |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,952,830 (GRCm39) |
I93N |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,011,345 (GRCm39) |
F402L |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,453,098 (GRCm39) |
R49C |
|
Het |
| Scd3 |
T |
C |
19: 44,226,816 (GRCm39) |
Y217H |
probably benign |
Het |
| Snx17 |
T |
C |
5: 31,353,826 (GRCm39) |
Y205H |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,970,777 (GRCm39) |
D1320E |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,191 (GRCm39) |
S539T |
possibly damaging |
Het |
| Xirp1 |
C |
A |
9: 119,847,558 (GRCm39) |
V442L |
probably damaging |
Het |
| Xrcc5 |
G |
A |
1: 72,369,091 (GRCm39) |
R315H |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,989,652 (GRCm39) |
C56S |
probably damaging |
Het |
| Zc3hav1 |
C |
A |
6: 38,330,913 (GRCm39) |
C82F |
probably damaging |
Het |
| Zfp787 |
A |
G |
7: 6,136,027 (GRCm39) |
F75L |
probably damaging |
Het |
| Zswim3 |
C |
T |
2: 164,662,285 (GRCm39) |
T255I |
probably damaging |
Het |
|
| Other mutations in Bicdl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Bicdl1
|
APN |
5 |
115,808,215 (GRCm39) |
nonsense |
probably null |
|
|
IGL01902:Bicdl1
|
APN |
5 |
115,789,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02416:Bicdl1
|
APN |
5 |
115,801,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02417:Bicdl1
|
APN |
5 |
115,811,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Bicdl1
|
APN |
5 |
115,801,881 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03275:Bicdl1
|
APN |
5 |
115,869,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bargain
|
UTSW |
5 |
115,808,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6807_Bicdl1_588
|
UTSW |
5 |
115,810,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0837:Bicdl1
|
UTSW |
5 |
115,869,351 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0924:Bicdl1
|
UTSW |
5 |
115,799,587 (GRCm39) |
splice site |
probably benign |
|
|
R1581:Bicdl1
|
UTSW |
5 |
115,789,326 (GRCm39) |
unclassified |
probably benign |
|
|
R1589:Bicdl1
|
UTSW |
5 |
115,789,325 (GRCm39) |
unclassified |
probably benign |
|
|
R1669:Bicdl1
|
UTSW |
5 |
115,794,075 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2076:Bicdl1
|
UTSW |
5 |
115,793,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2089:Bicdl1
|
UTSW |
5 |
115,862,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Bicdl1
|
UTSW |
5 |
115,862,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Bicdl1
|
UTSW |
5 |
115,862,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Bicdl1
|
UTSW |
5 |
115,799,537 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6185:Bicdl1
|
UTSW |
5 |
115,808,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6807:Bicdl1
|
UTSW |
5 |
115,810,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7107:Bicdl1
|
UTSW |
5 |
115,808,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7157:Bicdl1
|
UTSW |
5 |
115,789,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7205:Bicdl1
|
UTSW |
5 |
115,808,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Bicdl1
|
UTSW |
5 |
115,801,845 (GRCm39) |
nonsense |
probably null |
|
|
R7781:Bicdl1
|
UTSW |
5 |
115,799,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Bicdl1
|
UTSW |
5 |
115,787,618 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8816:Bicdl1
|
UTSW |
5 |
115,862,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Bicdl1
|
UTSW |
5 |
115,862,769 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCACTTAAGTTCTCACAGG -3'
(R):5'- ACCTAGGCTGTCATTTATGGTG -3'
Sequencing Primer
(F):5'- CTCACAGGAACGTCTCTTTAGATG -3'
(R):5'- AACACTCACCCTAAAGTTCTGTGGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation