Incidental Mutation 'R7272:Bcar3'
| ID |
565340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcar3
|
| Ensembl Gene |
ENSMUSG00000028121 |
| Gene Name |
breast cancer anti-estrogen resistance 3 |
| Synonyms |
AND-34 |
| MMRRC Submission |
045391-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.561)
|
| Stock # |
R7272 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
122213406-122323840 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122302045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 247
(I247F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029766]
[ENSMUST00000197073]
[ENSMUST00000198659]
[ENSMUST00000199344]
[ENSMUST00000199358]
|
| AlphaFold |
Q9QZK2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029766
AA Change: I247F
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: I247F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
126 |
145 |
N/A |
INTRINSIC |
|
SH2
|
146 |
234 |
3.17e-21 |
SMART |
|
low complexity region
|
395 |
406 |
N/A |
INTRINSIC |
|
RasGEF
|
539 |
814 |
2.55e-52 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197073
AA Change: I162F
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142469
Gene: ENSMUSG00000028121
AA Change: I162F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
60 |
N/A |
INTRINSIC |
|
SH2
|
61 |
149 |
2e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198659
|
| SMART Domains |
Protein: ENSMUSP00000143112
Gene: ENSMUSG00000028121
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
PDB:3T6A|D
|
149 |
186 |
4e-13 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199344
|
| SMART Domains |
Protein: ENSMUSP00000143711
Gene: ENSMUSG00000028121
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
PDB:3T6A|D
|
149 |
261 |
3e-61 |
PDB |
|
SCOP:d1bkds_
|
168 |
260 |
1e-7 |
SMART |
|
Blast:RasGEF
|
190 |
261 |
2e-42 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199358
AA Change: I127F
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142340
Gene: ENSMUSG00000028121
AA Change: I127F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
25 |
N/A |
INTRINSIC |
|
SH2
|
26 |
114 |
2e-23 |
SMART |
|
| Meta Mutation Damage Score |
0.1855 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cataracts due to rupture of the lens capsule and liquefaction of lens cortical fibers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,471,655 (GRCm39) |
I1020T |
probably benign |
Het |
| 2310057N15Rik |
A |
T |
16: 88,570,523 (GRCm39) |
Y172* |
probably null |
Het |
| 4930558K02Rik |
T |
A |
1: 161,770,092 (GRCm39) |
Y139F |
possibly damaging |
Het |
| A830018L16Rik |
T |
G |
1: 11,658,695 (GRCm39) |
M202R |
probably damaging |
Het |
| Abca12 |
T |
C |
1: 71,287,591 (GRCm39) |
E2450G |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,736,782 (GRCm39) |
R3034H |
unknown |
Het |
| Anxa9 |
A |
G |
3: 95,213,184 (GRCm39) |
I54T |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,961,941 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,386,066 (GRCm39) |
I570T |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,829,334 (GRCm39) |
V130A |
probably damaging |
Het |
| Cep89 |
A |
T |
7: 35,137,888 (GRCm39) |
R757S |
probably benign |
Het |
| Cryga |
A |
T |
1: 65,142,381 (GRCm39) |
I4N |
probably damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,676,764 (GRCm39) |
Y194F |
probably benign |
Het |
| Edn2 |
G |
A |
4: 120,019,143 (GRCm39) |
R44H |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,903,511 (GRCm39) |
Q363* |
probably null |
Het |
| Gpr33 |
T |
C |
12: 52,070,848 (GRCm39) |
T64A |
probably damaging |
Het |
| Ice2 |
T |
A |
9: 69,324,365 (GRCm39) |
S763T |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 127,804,245 (GRCm39) |
F1169L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,976,576 (GRCm39) |
L237P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,995,710 (GRCm39) |
E356G |
probably damaging |
Het |
| Krt33a |
C |
T |
11: 99,902,837 (GRCm39) |
R329Q |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 27,000,552 (GRCm39) |
G1657C |
probably damaging |
Het |
| Marchf3 |
T |
G |
18: 56,895,593 (GRCm39) |
R217S |
probably benign |
Het |
| Mmel1 |
A |
T |
4: 154,978,547 (GRCm39) |
T660S |
probably damaging |
Het |
| Ms4a7 |
T |
A |
19: 11,310,642 (GRCm39) |
K59* |
probably null |
Het |
| Mss51 |
G |
A |
14: 20,534,981 (GRCm39) |
T263I |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,385 (GRCm39) |
M199V |
probably benign |
Het |
| Ndufa4 |
G |
A |
6: 11,905,209 (GRCm39) |
Q62* |
probably null |
Het |
| Nectin4 |
A |
G |
1: 171,214,212 (GRCm39) |
T456A |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,578,120 (GRCm39) |
M1214T |
probably benign |
Het |
| Nsf |
T |
A |
11: 103,718,064 (GRCm39) |
L710F |
probably damaging |
Het |
| Nynrin |
G |
T |
14: 56,107,872 (GRCm39) |
G993V |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,689,695 (GRCm39) |
D296V |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,052,621 (GRCm39) |
Y155N |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,153 (GRCm39) |
I3595V |
possibly damaging |
Het |
| Pom121 |
G |
A |
5: 135,409,941 (GRCm39) |
T1072I |
unknown |
Het |
| Sdc1 |
T |
A |
12: 8,840,554 (GRCm39) |
H106Q |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,254,764 (GRCm39) |
D618G |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,401,878 (GRCm39) |
D755G |
possibly damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,387 (GRCm39) |
Y783C |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,975,006 (GRCm39) |
|
probably null |
Het |
| Spindoc |
C |
T |
19: 7,360,085 (GRCm39) |
E28K |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,064,859 (GRCm39) |
D1880G |
possibly damaging |
Het |
| Sspn |
T |
A |
6: 145,907,200 (GRCm39) |
D210E |
probably benign |
Het |
| Stx12 |
A |
T |
4: 132,584,687 (GRCm39) |
I219K |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,095,417 (GRCm39) |
V508A |
probably benign |
Het |
| Tkt |
G |
T |
14: 30,287,564 (GRCm39) |
R186L |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,860,527 (GRCm39) |
M241K |
probably damaging |
Het |
| Vgll2 |
C |
A |
10: 51,903,758 (GRCm39) |
A207E |
possibly damaging |
Het |
| Vmn1r114 |
A |
G |
7: 20,545,543 (GRCm39) |
F190S |
probably damaging |
Het |
| Xpot |
C |
T |
10: 121,453,094 (GRCm39) |
|
probably null |
Het |
| Yrdc |
G |
A |
4: 124,744,820 (GRCm39) |
A85T |
probably benign |
Het |
| Zfp385c |
C |
T |
11: 100,520,865 (GRCm39) |
R265K |
possibly damaging |
Het |
| Zgrf1 |
A |
T |
3: 127,392,409 (GRCm39) |
I1310F |
probably damaging |
Het |
|
| Other mutations in Bcar3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Bcar3
|
APN |
3 |
122,306,585 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01372:Bcar3
|
APN |
3 |
122,316,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02681:Bcar3
|
APN |
3 |
122,306,417 (GRCm39) |
splice site |
probably null |
|
|
IGL03403:Bcar3
|
APN |
3 |
122,306,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0408:Bcar3
|
UTSW |
3 |
122,302,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0531:Bcar3
|
UTSW |
3 |
122,220,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0798:Bcar3
|
UTSW |
3 |
122,318,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1445:Bcar3
|
UTSW |
3 |
122,316,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1892:Bcar3
|
UTSW |
3 |
122,301,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2138:Bcar3
|
UTSW |
3 |
122,306,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Bcar3
|
UTSW |
3 |
122,318,645 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3237:Bcar3
|
UTSW |
3 |
122,318,645 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3832:Bcar3
|
UTSW |
3 |
122,220,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Bcar3
|
UTSW |
3 |
122,323,243 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4802:Bcar3
|
UTSW |
3 |
122,323,243 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5342:Bcar3
|
UTSW |
3 |
122,220,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Bcar3
|
UTSW |
3 |
122,323,281 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5560:Bcar3
|
UTSW |
3 |
122,220,224 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5714:Bcar3
|
UTSW |
3 |
122,248,736 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5716:Bcar3
|
UTSW |
3 |
122,306,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Bcar3
|
UTSW |
3 |
122,316,932 (GRCm39) |
missense |
probably benign |
|
|
R6478:Bcar3
|
UTSW |
3 |
122,220,225 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6615:Bcar3
|
UTSW |
3 |
122,220,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6996:Bcar3
|
UTSW |
3 |
122,302,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7308:Bcar3
|
UTSW |
3 |
122,302,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7353:Bcar3
|
UTSW |
3 |
122,306,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7465:Bcar3
|
UTSW |
3 |
122,316,879 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7816:Bcar3
|
UTSW |
3 |
122,220,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7899:Bcar3
|
UTSW |
3 |
122,301,902 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8066:Bcar3
|
UTSW |
3 |
122,318,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Bcar3
|
UTSW |
3 |
122,304,805 (GRCm39) |
unclassified |
probably benign |
|
|
R8285:Bcar3
|
UTSW |
3 |
122,306,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9224:Bcar3
|
UTSW |
3 |
122,319,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9340:Bcar3
|
UTSW |
3 |
122,298,462 (GRCm39) |
start gained |
probably benign |
|
|
R9480:Bcar3
|
UTSW |
3 |
122,277,618 (GRCm39) |
nonsense |
probably null |
|
|
R9631:Bcar3
|
UTSW |
3 |
122,301,801 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Bcar3
|
UTSW |
3 |
122,298,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCGCTCAGCACTTTAAG -3'
(R):5'- GACGGTGAGTGTTCTAAAACCC -3'
Sequencing Primer
(F):5'- TTAAGATCAACCGGACTGTCCTG -3'
(R):5'- GGTGAGTGTTCTAAAACCCTCTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation