Incidental Mutation 'R7380:BC034090'
| ID |
572606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC034090
|
| Ensembl Gene |
ENSMUSG00000033722 |
| Gene Name |
cDNA sequence BC034090 |
| Synonyms |
|
| MMRRC Submission |
045462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155088217-155120190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 155108229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 11
(S11R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035914]
[ENSMUST00000186156]
[ENSMUST00000187096]
|
| AlphaFold |
A0A087WP46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035914
AA Change: S11R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: S11R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
Pfam:DUF4685
|
44 |
168 |
6.6e-57 |
PFAM |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
652 |
N/A |
INTRINSIC |
|
PDZ
|
830 |
905 |
4.8e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186156
AA Change: S373R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: S373R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
446 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
PDZ
|
1123 |
1198 |
2.2e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187096
AA Change: S11R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: S11R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
101 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
C |
8: 117,700,376 (GRCm39) |
T9A |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,215,784 (GRCm39) |
S414R |
possibly damaging |
Het |
| Acads |
C |
A |
5: 115,249,057 (GRCm39) |
Q365H |
probably damaging |
Het |
| Ankib1 |
G |
T |
5: 3,772,576 (GRCm39) |
Q487K |
probably benign |
Het |
| Car12 |
A |
G |
9: 66,654,945 (GRCm39) |
N125S |
probably benign |
Het |
| Casq1 |
A |
G |
1: 172,044,416 (GRCm39) |
V137A |
probably benign |
Het |
| Cfap54 |
C |
A |
10: 92,883,840 (GRCm39) |
V305F |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,433,948 (GRCm39) |
E404G |
probably benign |
Het |
| Copg1 |
T |
G |
6: 87,870,824 (GRCm39) |
L209R |
probably damaging |
Het |
| Cpb2 |
A |
T |
14: 75,493,449 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Cpd |
G |
A |
11: 76,693,151 (GRCm39) |
Q712* |
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,450,361 (GRCm39) |
Y2690F |
|
Het |
| Dchs1 |
G |
T |
7: 105,407,835 (GRCm39) |
T1999K |
probably benign |
Het |
| Ddx10 |
T |
A |
9: 53,151,786 (GRCm39) |
T80S |
probably damaging |
Het |
| Dmtn |
G |
A |
14: 70,854,768 (GRCm39) |
T69I |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,370,524 (GRCm39) |
H2821Q |
probably damaging |
Het |
| Fam162b |
T |
A |
10: 51,466,572 (GRCm39) |
|
probably benign |
Het |
| Fam193b |
A |
C |
13: 55,690,612 (GRCm39) |
S717A |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,082,493 (GRCm39) |
F500L |
unknown |
Het |
| Focad |
T |
A |
4: 88,192,435 (GRCm39) |
V588D |
unknown |
Het |
| Gm12728 |
T |
C |
4: 105,651,593 (GRCm39) |
F68L |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,974,621 (GRCm39) |
M478K |
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,080,070 (GRCm39) |
D229V |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,230,171 (GRCm39) |
I308F |
probably damaging |
Het |
| Igf2bp3 |
T |
C |
6: 49,085,933 (GRCm39) |
T249A |
probably benign |
Het |
| Igfn1 |
C |
A |
1: 135,889,746 (GRCm39) |
V2434F |
probably damaging |
Het |
| Inhca |
G |
A |
9: 103,156,680 (GRCm39) |
Q127* |
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,382,879 (GRCm39) |
Q737K |
probably benign |
Het |
| Khdrbs2 |
T |
C |
1: 32,372,685 (GRCm39) |
S120P |
unknown |
Het |
| Lmx1a |
T |
C |
1: 167,519,609 (GRCm39) |
F46L |
probably damaging |
Het |
| Lrba |
C |
G |
3: 86,232,381 (GRCm39) |
T776R |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,701 (GRCm39) |
N492S |
possibly damaging |
Het |
| Mapk3 |
A |
T |
7: 126,363,967 (GRCm39) |
I365F |
|
Het |
| Mcee |
A |
G |
7: 64,061,657 (GRCm39) |
I153M |
possibly damaging |
Het |
| Mllt3 |
T |
C |
4: 87,710,180 (GRCm39) |
D415G |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,575,740 (GRCm39) |
T1747S |
unknown |
Het |
| Myh14 |
A |
T |
7: 44,310,466 (GRCm39) |
V139E |
probably damaging |
Het |
| Myo10 |
A |
T |
15: 25,779,706 (GRCm39) |
I772L |
probably benign |
Het |
| Naa15 |
T |
G |
3: 51,367,268 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,283,969 (GRCm39) |
I841N |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,437,102 (GRCm39) |
T2006I |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,641,254 (GRCm39) |
W427R |
probably damaging |
Het |
| Nr1h3 |
A |
T |
2: 91,020,540 (GRCm39) |
F324L |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,947,740 (GRCm39) |
K4430E |
|
Het |
| Or1e1d-ps1 |
T |
A |
11: 73,819,013 (GRCm39) |
Y61N |
possibly damaging |
Het |
| Or5ac21 |
A |
G |
16: 59,124,391 (GRCm39) |
R292G |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,530 (GRCm39) |
T145S |
probably benign |
Het |
| Or6d13 |
T |
C |
6: 116,517,894 (GRCm39) |
L160P |
probably benign |
Het |
| Osgin1 |
T |
A |
8: 120,172,170 (GRCm39) |
H321Q |
probably benign |
Het |
| P4ha1 |
A |
G |
10: 59,186,273 (GRCm39) |
I251V |
probably benign |
Het |
| Padi2 |
G |
A |
4: 140,644,997 (GRCm39) |
W77* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,800,616 (GRCm39) |
I3086N |
probably damaging |
Het |
| Plk3 |
T |
C |
4: 116,988,350 (GRCm39) |
N360S |
probably benign |
Het |
| Prr14 |
A |
T |
7: 127,075,614 (GRCm39) |
S541C |
probably null |
Het |
| Ptch2 |
C |
A |
4: 116,971,843 (GRCm39) |
Q1122K |
possibly damaging |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,727 (GRCm39) |
V764A |
possibly damaging |
Het |
| Rad50 |
T |
C |
11: 53,586,223 (GRCm39) |
I258V |
probably benign |
Het |
| Rapgef3 |
G |
T |
15: 97,664,672 (GRCm39) |
R64S |
probably benign |
Het |
| Rbm44 |
A |
G |
1: 91,079,938 (GRCm39) |
N42S |
possibly damaging |
Het |
| Ring1 |
T |
C |
17: 34,240,694 (GRCm39) |
Y361C |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,329,852 (GRCm39) |
T1155A |
probably damaging |
Het |
| Rsf1 |
GGCGG |
GGCGGTGGCCGCGG |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,470,502 (GRCm39) |
T4682A |
probably damaging |
Het |
| Scart1 |
A |
T |
7: 139,804,790 (GRCm39) |
N598Y |
possibly damaging |
Het |
| Sema7a |
T |
C |
9: 57,868,847 (GRCm39) |
V653A |
unknown |
Het |
| Slc16a13 |
T |
C |
11: 70,110,105 (GRCm39) |
Y132C |
probably damaging |
Het |
| Slc24a1 |
A |
G |
9: 64,855,815 (GRCm39) |
V364A |
unknown |
Het |
| Slc8a2 |
C |
T |
7: 15,868,278 (GRCm39) |
A170V |
probably damaging |
Het |
| Slfn8 |
C |
T |
11: 82,894,566 (GRCm39) |
R691Q |
not run |
Het |
| Snx2 |
T |
C |
18: 53,327,640 (GRCm39) |
V122A |
probably benign |
Het |
| Sstr1 |
A |
T |
12: 58,260,066 (GRCm39) |
M230L |
probably benign |
Het |
| Themis2 |
C |
T |
4: 132,513,528 (GRCm39) |
V233I |
possibly damaging |
Het |
| Tmem106b |
T |
C |
6: 13,078,167 (GRCm39) |
S121P |
probably damaging |
Het |
| Tmem63c |
A |
G |
12: 87,124,722 (GRCm39) |
I529V |
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,686,971 (GRCm39) |
|
probably null |
Het |
| Trmt10c |
A |
T |
16: 55,854,619 (GRCm39) |
W339R |
probably damaging |
Het |
| Ugt2b1 |
A |
T |
5: 87,065,578 (GRCm39) |
F487Y |
not run |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,838 (GRCm39) |
L835* |
probably null |
Het |
| Vps52 |
C |
A |
17: 34,177,283 (GRCm39) |
N108K |
possibly damaging |
Het |
| Wdpcp |
T |
A |
11: 21,661,585 (GRCm39) |
C286S |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,205,551 (GRCm39) |
H529Q |
possibly damaging |
Het |
|
| Other mutations in BC034090 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:BC034090
|
APN |
1 |
155,101,193 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00159:BC034090
|
APN |
1 |
155,101,197 (GRCm39) |
nonsense |
probably null |
|
|
IGL00481:BC034090
|
APN |
1 |
155,108,267 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01309:BC034090
|
APN |
1 |
155,102,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01813:BC034090
|
APN |
1 |
155,102,085 (GRCm39) |
nonsense |
probably null |
|
|
IGL01938:BC034090
|
APN |
1 |
155,108,338 (GRCm39) |
splice site |
probably null |
|
|
IGL01982:BC034090
|
APN |
1 |
155,099,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02115:BC034090
|
APN |
1 |
155,108,397 (GRCm39) |
intron |
probably benign |
|
|
IGL02338:BC034090
|
APN |
1 |
155,093,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:BC034090
|
APN |
1 |
155,100,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03243:BC034090
|
APN |
1 |
155,101,401 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03290:BC034090
|
APN |
1 |
155,101,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:BC034090
|
UTSW |
1 |
155,117,371 (GRCm39) |
nonsense |
probably null |
|
|
BB014:BC034090
|
UTSW |
1 |
155,117,371 (GRCm39) |
nonsense |
probably null |
|
|
R0055:BC034090
|
UTSW |
1 |
155,117,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:BC034090
|
UTSW |
1 |
155,101,662 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1649:BC034090
|
UTSW |
1 |
155,101,319 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1710:BC034090
|
UTSW |
1 |
155,101,610 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1819:BC034090
|
UTSW |
1 |
155,101,575 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1969:BC034090
|
UTSW |
1 |
155,100,972 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1996:BC034090
|
UTSW |
1 |
155,097,340 (GRCm39) |
unclassified |
probably benign |
|
|
R2012:BC034090
|
UTSW |
1 |
155,097,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2133:BC034090
|
UTSW |
1 |
155,101,532 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3426:BC034090
|
UTSW |
1 |
155,117,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3427:BC034090
|
UTSW |
1 |
155,117,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3428:BC034090
|
UTSW |
1 |
155,117,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3782:BC034090
|
UTSW |
1 |
155,102,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:BC034090
|
UTSW |
1 |
155,117,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4234:BC034090
|
UTSW |
1 |
155,117,326 (GRCm39) |
missense |
probably benign |
|
|
R4373:BC034090
|
UTSW |
1 |
155,101,904 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4377:BC034090
|
UTSW |
1 |
155,108,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4661:BC034090
|
UTSW |
1 |
155,108,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4676:BC034090
|
UTSW |
1 |
155,102,010 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4729:BC034090
|
UTSW |
1 |
155,100,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:BC034090
|
UTSW |
1 |
155,089,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:BC034090
|
UTSW |
1 |
155,102,160 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5382:BC034090
|
UTSW |
1 |
155,101,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5384:BC034090
|
UTSW |
1 |
155,117,773 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5576:BC034090
|
UTSW |
1 |
155,117,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5891:BC034090
|
UTSW |
1 |
155,108,793 (GRCm39) |
unclassified |
probably benign |
|
|
R6060:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6092:BC034090
|
UTSW |
1 |
155,100,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6662:BC034090
|
UTSW |
1 |
155,102,085 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6736:BC034090
|
UTSW |
1 |
155,117,676 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6903:BC034090
|
UTSW |
1 |
155,097,131 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6970:BC034090
|
UTSW |
1 |
155,117,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:BC034090
|
UTSW |
1 |
155,117,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7201:BC034090
|
UTSW |
1 |
155,117,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7265:BC034090
|
UTSW |
1 |
155,101,073 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7436:BC034090
|
UTSW |
1 |
155,102,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7569:BC034090
|
UTSW |
1 |
155,093,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7587:BC034090
|
UTSW |
1 |
155,093,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:BC034090
|
UTSW |
1 |
155,117,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:BC034090
|
UTSW |
1 |
155,117,419 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7782:BC034090
|
UTSW |
1 |
155,108,410 (GRCm39) |
intron |
probably benign |
|
|
R7927:BC034090
|
UTSW |
1 |
155,117,371 (GRCm39) |
nonsense |
probably null |
|
|
R8079:BC034090
|
UTSW |
1 |
155,101,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8204:BC034090
|
UTSW |
1 |
155,117,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:BC034090
|
UTSW |
1 |
155,097,085 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8832:BC034090
|
UTSW |
1 |
155,102,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:BC034090
|
UTSW |
1 |
155,101,964 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8879:BC034090
|
UTSW |
1 |
155,102,103 (GRCm39) |
missense |
probably benign |
|
|
R9004:BC034090
|
UTSW |
1 |
155,102,138 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9036:BC034090
|
UTSW |
1 |
155,117,419 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9141:BC034090
|
UTSW |
1 |
155,108,474 (GRCm39) |
intron |
probably benign |
|
|
R9293:BC034090
|
UTSW |
1 |
155,101,518 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9348:BC034090
|
UTSW |
1 |
155,099,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9440:BC034090
|
UTSW |
1 |
155,101,961 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9477:BC034090
|
UTSW |
1 |
155,102,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:BC034090
|
UTSW |
1 |
155,099,135 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9700:BC034090
|
UTSW |
1 |
155,101,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9787:BC034090
|
UTSW |
1 |
155,117,955 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0002:BC034090
|
UTSW |
1 |
155,102,025 (GRCm39) |
nonsense |
probably null |
|
|
Z1187:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAAAATTGTGCATGCAC -3'
(R):5'- GCCTGATACCATTAAAGCCGTC -3'
Sequencing Primer
(F):5'- CGCACACGCACATGCAC -3'
(R):5'- CCATTAAAGCCGTCTAAGCTGTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation