Incidental Mutation 'R0157:BC028528'
| ID |
22897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC028528
|
| Ensembl Gene |
ENSMUSG00000038543 |
| Gene Name |
cDNA sequence BC028528 |
| Synonyms |
L259 |
| MMRRC Submission |
038437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R0157 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95791266-95799317 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 95792280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036360]
[ENSMUST00000036418]
[ENSMUST00000090476]
[ENSMUST00000161866]
[ENSMUST00000161867]
[ENSMUST00000171519]
[ENSMUST00000159739]
[ENSMUST00000161994]
[ENSMUST00000159863]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036360
|
| SMART Domains |
Protein: ENSMUSP00000046810
Gene: ENSMUSG00000038543
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4634
|
1 |
145 |
3.6e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036418
|
| SMART Domains |
Protein: ENSMUSP00000049308
Gene: ENSMUSG00000038550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000090476
|
| SMART Domains |
Protein: ENSMUSP00000102749
Gene: ENSMUSG00000038543
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4634
|
1 |
146 |
1.8e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145949
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161866
|
| SMART Domains |
Protein: ENSMUSP00000135072
Gene: ENSMUSG00000038550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
166 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171519
|
| SMART Domains |
Protein: ENSMUSP00000127666
Gene: ENSMUSG00000038543
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4634
|
1 |
146 |
1.5e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159739
|
| SMART Domains |
Protein: ENSMUSP00000124943
Gene: ENSMUSG00000038550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
61 |
N/A |
INTRINSIC |
|
Pfam:DUF4664
|
85 |
361 |
3.3e-170 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161994
|
| SMART Domains |
Protein: ENSMUSP00000124125
Gene: ENSMUSG00000038550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159863
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.5%
|
| Validation Efficiency |
64% (47/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
T |
A |
11: 80,056,527 (GRCm39) |
I180N |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,256,840 (GRCm39) |
N673I |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,866,539 (GRCm39) |
S20P |
probably damaging |
Het |
| Arhgef26 |
T |
G |
3: 62,288,392 (GRCm39) |
D487E |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,845,475 (GRCm39) |
D1500G |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,835,812 (GRCm39) |
I39V |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,256,326 (GRCm39) |
I208N |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,980,643 (GRCm39) |
V16A |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,835,809 (GRCm39) |
I518T |
probably damaging |
Het |
| B130006D01Rik |
T |
C |
11: 95,617,211 (GRCm39) |
|
probably benign |
Het |
| Bpifb6 |
T |
A |
2: 153,745,886 (GRCm39) |
L74Q |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,965,484 (GRCm39) |
T1122A |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,289,385 (GRCm39) |
D806E |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,111,649 (GRCm39) |
Q287R |
possibly damaging |
Het |
| Cdk12 |
A |
G |
11: 98,140,602 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,384,556 (GRCm39) |
T2575S |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,833,759 (GRCm39) |
I1171N |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,735,464 (GRCm39) |
|
probably null |
Het |
| Ckmt1 |
A |
G |
2: 121,193,522 (GRCm39) |
T361A |
possibly damaging |
Het |
| Clec4d |
G |
T |
6: 123,244,095 (GRCm39) |
R68L |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 128,415,704 (GRCm39) |
V2678F |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,964,761 (GRCm39) |
V131E |
possibly damaging |
Het |
| Dab2 |
T |
C |
15: 6,459,308 (GRCm39) |
S407P |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 118,017,997 (GRCm39) |
G166D |
probably benign |
Het |
| F13b |
G |
A |
1: 139,431,585 (GRCm39) |
V52I |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,549 (GRCm39) |
I176M |
probably benign |
Het |
| Hoxc11 |
A |
G |
15: 102,863,436 (GRCm39) |
Y159C |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,026,642 (GRCm39) |
I120T |
possibly damaging |
Het |
| Il20rb |
A |
G |
9: 100,355,132 (GRCm39) |
Y104H |
probably damaging |
Het |
| Krtap21-1 |
A |
G |
16: 89,200,430 (GRCm39) |
C71R |
unknown |
Het |
| Lamc1 |
T |
C |
1: 153,138,353 (GRCm39) |
D167G |
probably benign |
Het |
| Lin7c |
C |
A |
2: 109,725,514 (GRCm39) |
A73E |
probably damaging |
Het |
| Meiosin |
T |
C |
7: 18,840,945 (GRCm39) |
H63R |
possibly damaging |
Het |
| Mms22l |
C |
A |
4: 24,588,224 (GRCm39) |
A952E |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,973,735 (GRCm39) |
N136S |
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,943,218 (GRCm39) |
T31A |
probably benign |
Het |
| Nlrp2 |
T |
C |
7: 5,311,769 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,885 (GRCm39) |
F275S |
probably damaging |
Het |
| Or2y14 |
T |
C |
11: 49,404,600 (GRCm39) |
I45T |
probably damaging |
Het |
| Orc3 |
C |
A |
4: 34,607,130 (GRCm39) |
|
probably null |
Het |
| Pard3b |
A |
C |
1: 62,250,792 (GRCm39) |
M512L |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,334,136 (GRCm39) |
D150G |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,608,741 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
C |
2: 37,242,189 (GRCm39) |
I187S |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,419,449 (GRCm39) |
I51M |
probably damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,000,662 (GRCm39) |
T692S |
probably benign |
Het |
| Plcb2 |
C |
A |
2: 118,549,022 (GRCm39) |
V380F |
probably damaging |
Het |
| Pmpcb |
A |
T |
5: 21,947,950 (GRCm39) |
I218F |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,234,196 (GRCm39) |
Y773* |
probably null |
Het |
| Polr2e |
C |
T |
10: 79,872,615 (GRCm39) |
G184R |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,529,254 (GRCm39) |
I369V |
probably damaging |
Het |
| Pramel21 |
C |
T |
4: 143,342,366 (GRCm39) |
P158S |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,068,014 (GRCm39) |
|
probably benign |
Het |
| Pzp |
G |
A |
6: 128,500,939 (GRCm39) |
Q140* |
probably null |
Het |
| Qrich2 |
T |
A |
11: 116,332,221 (GRCm39) |
E2325V |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,307,858 (GRCm39) |
L373R |
probably damaging |
Het |
| Sema3d |
A |
T |
5: 12,558,104 (GRCm39) |
D212V |
possibly damaging |
Het |
| Sidt2 |
A |
G |
9: 45,850,565 (GRCm39) |
I850T |
probably damaging |
Het |
| Slc22a29 |
C |
T |
19: 8,140,106 (GRCm39) |
R433H |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Sox21 |
G |
A |
14: 118,473,354 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
A |
G |
1: 120,155,379 (GRCm39) |
*527R |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,069,830 (GRCm39) |
E2652G |
possibly damaging |
Het |
| Taar2 |
T |
A |
10: 23,817,389 (GRCm39) |
F310I |
probably damaging |
Het |
| Tasor2 |
C |
A |
13: 3,625,550 (GRCm39) |
V1467L |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,286,307 (GRCm39) |
V783A |
probably benign |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,822 (GRCm39) |
I19N |
probably damaging |
Het |
| Vwa5b1 |
T |
A |
4: 138,332,190 (GRCm39) |
M276L |
probably benign |
Het |
| Yeats2 |
A |
C |
16: 20,040,427 (GRCm39) |
*142C |
probably null |
Het |
| Zfp26 |
G |
T |
9: 20,349,166 (GRCm39) |
T466K |
probably benign |
Het |
| Zfp426 |
T |
C |
9: 20,382,432 (GRCm39) |
N171S |
probably benign |
Het |
|
| Other mutations in BC028528 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01686:BC028528
|
APN |
3 |
95,796,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:BC028528
|
UTSW |
3 |
95,794,646 (GRCm39) |
intron |
probably benign |
|
|
R0306:BC028528
|
UTSW |
3 |
95,797,132 (GRCm39) |
unclassified |
probably benign |
|
|
R1478:BC028528
|
UTSW |
3 |
95,799,271 (GRCm39) |
splice site |
probably null |
|
|
R4204:BC028528
|
UTSW |
3 |
95,797,057 (GRCm39) |
nonsense |
probably null |
|
|
R4649:BC028528
|
UTSW |
3 |
95,795,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5022:BC028528
|
UTSW |
3 |
95,796,135 (GRCm39) |
intron |
probably benign |
|
|
R6541:BC028528
|
UTSW |
3 |
95,795,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6683:BC028528
|
UTSW |
3 |
95,795,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:BC028528
|
UTSW |
3 |
95,795,480 (GRCm39) |
small insertion |
probably benign |
|
|
R6980:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R6980:BC028528
|
UTSW |
3 |
95,795,451 (GRCm39) |
small insertion |
probably benign |
|
|
R7058:BC028528
|
UTSW |
3 |
95,792,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7180:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7308:BC028528
|
UTSW |
3 |
95,795,481 (GRCm39) |
small insertion |
probably benign |
|
|
R7308:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7308:BC028528
|
UTSW |
3 |
95,795,464 (GRCm39) |
small insertion |
probably benign |
|
|
R7310:BC028528
|
UTSW |
3 |
95,795,460 (GRCm39) |
small insertion |
probably benign |
|
|
R7310:BC028528
|
UTSW |
3 |
95,795,485 (GRCm39) |
small insertion |
probably benign |
|
|
R7310:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7310:BC028528
|
UTSW |
3 |
95,795,451 (GRCm39) |
small insertion |
probably benign |
|
|
R7356:BC028528
|
UTSW |
3 |
95,795,470 (GRCm39) |
small insertion |
probably benign |
|
|
R7356:BC028528
|
UTSW |
3 |
95,795,477 (GRCm39) |
small insertion |
probably benign |
|
|
R7356:BC028528
|
UTSW |
3 |
95,795,487 (GRCm39) |
small insertion |
probably benign |
|
|
R7356:BC028528
|
UTSW |
3 |
95,795,495 (GRCm39) |
small insertion |
probably benign |
|
|
R7356:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7356:BC028528
|
UTSW |
3 |
95,795,453 (GRCm39) |
small insertion |
probably benign |
|
|
R7376:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7430:BC028528
|
UTSW |
3 |
95,795,481 (GRCm39) |
small insertion |
probably benign |
|
|
R7430:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7490:BC028528
|
UTSW |
3 |
95,795,498 (GRCm39) |
small insertion |
probably benign |
|
|
R7490:BC028528
|
UTSW |
3 |
95,795,478 (GRCm39) |
small insertion |
probably benign |
|
|
R7490:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7491:BC028528
|
UTSW |
3 |
95,795,450 (GRCm39) |
small insertion |
probably benign |
|
|
R7491:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7565:BC028528
|
UTSW |
3 |
95,795,456 (GRCm39) |
small insertion |
probably benign |
|
|
R7565:BC028528
|
UTSW |
3 |
95,795,450 (GRCm39) |
small insertion |
probably benign |
|
|
R7565:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7568:BC028528
|
UTSW |
3 |
95,795,484 (GRCm39) |
small insertion |
probably benign |
|
|
R7568:BC028528
|
UTSW |
3 |
95,795,463 (GRCm39) |
small insertion |
probably benign |
|
|
R7568:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7635:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7672:BC028528
|
UTSW |
3 |
95,795,487 (GRCm39) |
small insertion |
probably benign |
|
|
R7672:BC028528
|
UTSW |
3 |
95,795,455 (GRCm39) |
small insertion |
probably benign |
|
|
R7672:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7909:BC028528
|
UTSW |
3 |
95,795,476 (GRCm39) |
small insertion |
probably benign |
|
|
R7909:BC028528
|
UTSW |
3 |
95,795,475 (GRCm39) |
small insertion |
probably benign |
|
|
R7909:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7909:BC028528
|
UTSW |
3 |
95,795,489 (GRCm39) |
small insertion |
probably benign |
|
|
R7909:BC028528
|
UTSW |
3 |
95,795,480 (GRCm39) |
small insertion |
probably benign |
|
|
R7912:BC028528
|
UTSW |
3 |
95,795,448 (GRCm39) |
small insertion |
probably benign |
|
|
R7912:BC028528
|
UTSW |
3 |
95,795,483 (GRCm39) |
small insertion |
probably benign |
|
|
R7912:BC028528
|
UTSW |
3 |
95,795,466 (GRCm39) |
small insertion |
probably benign |
|
|
R7912:BC028528
|
UTSW |
3 |
95,795,456 (GRCm39) |
small insertion |
probably benign |
|
|
R7912:BC028528
|
UTSW |
3 |
95,795,454 (GRCm39) |
small insertion |
probably benign |
|
|
R7912:BC028528
|
UTSW |
3 |
95,795,452 (GRCm39) |
small insertion |
probably benign |
|
|
R7912:BC028528
|
UTSW |
3 |
95,795,450 (GRCm39) |
small insertion |
probably benign |
|
|
R7958:BC028528
|
UTSW |
3 |
95,796,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8337:BC028528
|
UTSW |
3 |
95,792,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9288:BC028528
|
UTSW |
3 |
95,799,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9454:BC028528
|
UTSW |
3 |
95,797,082 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCCGTCTCTATGCAAACG -3'
(R):5'- ACTGCTGGAAAGGTGACAATGACC -3'
Sequencing Primer
(F):5'- CTCTACAGGGTTGTAGGACACAC -3'
(R):5'- GAAAGGTGACAATGACCTATGTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation