Incidental Mutation 'R1649:BC034090'
ID |
174071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
BC034090
|
Ensembl Gene |
ENSMUSG00000033722 |
Gene Name |
cDNA sequence BC034090 |
Synonyms |
|
MMRRC Submission |
039685-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R1649 (G1)
|
Quality Score |
172 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
155088217-155120190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155101319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 315
(H315R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035914]
[ENSMUST00000186156]
[ENSMUST00000187096]
|
AlphaFold |
A0A087WP46 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035914
AA Change: H315R
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000037456 Gene: ENSMUSG00000033722 AA Change: H315R
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 |
noncoding transcript
Transcript: ENSMUST00000186082
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186156
AA Change: H677R
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000139623 Gene: ENSMUSG00000033722 AA Change: H677R
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 |
noncoding transcript
Transcript: ENSMUST00000186551
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187096
|
SMART Domains |
Protein: ENSMUSP00000140632 Gene: ENSMUSG00000033722
Domain | Start | End | E-Value | Type |
low complexity region
|
84 |
101 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187781
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188492
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190976
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 88.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1a1 |
T |
A |
4: 116,495,217 (GRCm39) |
I261F |
probably damaging |
Het |
Aldh1l1 |
T |
C |
6: 90,541,371 (GRCm39) |
V255A |
probably benign |
Het |
Ambn |
T |
A |
5: 88,612,340 (GRCm39) |
M172K |
probably benign |
Het |
Arhgef18 |
A |
G |
8: 3,439,094 (GRCm39) |
|
probably benign |
Het |
Btaf1 |
T |
A |
19: 36,959,122 (GRCm39) |
D707E |
probably benign |
Het |
C6 |
T |
C |
15: 4,764,739 (GRCm39) |
L145P |
possibly damaging |
Het |
Cav3 |
T |
A |
6: 112,449,207 (GRCm39) |
L75Q |
probably damaging |
Het |
Cavin2 |
T |
A |
1: 51,339,939 (GRCm39) |
D205E |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,811,242 (GRCm39) |
T423A |
probably damaging |
Het |
Cep120 |
A |
T |
18: 53,857,648 (GRCm39) |
H272Q |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,659,229 (GRCm39) |
Q63L |
possibly damaging |
Het |
Clspn |
T |
C |
4: 126,460,228 (GRCm39) |
|
probably benign |
Het |
Cramp1 |
G |
T |
17: 25,202,217 (GRCm39) |
H422N |
probably damaging |
Het |
Csn1s2b |
A |
T |
5: 87,966,943 (GRCm39) |
M71L |
probably benign |
Het |
D630045J12Rik |
C |
A |
6: 38,158,366 (GRCm39) |
A1104S |
probably damaging |
Het |
D930048N14Rik |
A |
G |
11: 51,545,663 (GRCm39) |
|
probably benign |
Het |
Ern2 |
G |
A |
7: 121,776,623 (GRCm39) |
P366S |
probably damaging |
Het |
Gm1527 |
T |
C |
3: 28,952,880 (GRCm39) |
I60T |
probably damaging |
Het |
Gse1 |
T |
C |
8: 121,305,254 (GRCm39) |
|
probably benign |
Het |
Ildr1 |
T |
C |
16: 36,528,681 (GRCm39) |
L42P |
probably damaging |
Het |
Itih2 |
G |
A |
2: 10,110,546 (GRCm39) |
T515I |
probably benign |
Het |
Jcad |
C |
A |
18: 4,673,309 (GRCm39) |
P357Q |
probably damaging |
Het |
Kitl |
A |
G |
10: 99,899,976 (GRCm39) |
T94A |
probably benign |
Het |
Klri1 |
C |
T |
6: 129,675,204 (GRCm39) |
M185I |
probably benign |
Het |
Lsamp |
A |
T |
16: 41,775,661 (GRCm39) |
M171L |
probably benign |
Het |
Macf1 |
T |
G |
4: 123,377,846 (GRCm39) |
I1460L |
probably damaging |
Het |
Map1b |
C |
G |
13: 99,652,986 (GRCm39) |
V4L |
probably benign |
Het |
Mboat7 |
A |
T |
7: 3,688,817 (GRCm39) |
V237D |
probably benign |
Het |
Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
Ms4a6b |
A |
G |
19: 11,497,806 (GRCm39) |
D35G |
possibly damaging |
Het |
Nipsnap2 |
T |
A |
5: 129,830,301 (GRCm39) |
I205N |
probably damaging |
Het |
Nsd2 |
T |
C |
5: 34,011,984 (GRCm39) |
V264A |
probably damaging |
Het |
Oacyl |
C |
T |
18: 65,883,167 (GRCm39) |
T582I |
probably damaging |
Het |
Olfm1 |
A |
T |
2: 28,119,279 (GRCm39) |
T333S |
possibly damaging |
Het |
Olfm4 |
G |
A |
14: 80,249,422 (GRCm39) |
E180K |
probably damaging |
Het |
Or14j6 |
T |
C |
17: 38,215,060 (GRCm39) |
F208L |
probably benign |
Het |
Or2ad1 |
A |
T |
13: 21,326,912 (GRCm39) |
L105Q |
probably damaging |
Het |
Or8g17 |
T |
G |
9: 38,930,776 (GRCm39) |
Q20H |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,827,885 (GRCm39) |
V212E |
possibly damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,648,666 (GRCm39) |
N598K |
probably damaging |
Het |
Piezo2 |
C |
A |
18: 63,250,743 (GRCm39) |
W452L |
probably benign |
Het |
Plec |
C |
A |
15: 76,090,011 (GRCm39) |
A110S |
possibly damaging |
Het |
Popdc3 |
T |
C |
10: 45,191,320 (GRCm39) |
Y144H |
probably damaging |
Het |
Ptgdr |
T |
C |
14: 45,095,959 (GRCm39) |
H251R |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,421,015 (GRCm39) |
Y246* |
probably null |
Het |
Pyroxd2 |
T |
C |
19: 42,726,573 (GRCm39) |
D247G |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,695,889 (GRCm39) |
E1418G |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,815,772 (GRCm39) |
T198A |
probably benign |
Het |
Sec16a |
A |
T |
2: 26,315,536 (GRCm39) |
V1767D |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,774,819 (GRCm39) |
N119D |
probably benign |
Het |
Serpina5 |
A |
T |
12: 104,071,484 (GRCm39) |
T364S |
possibly damaging |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Sh3bp2 |
C |
T |
5: 34,716,348 (GRCm39) |
A253V |
possibly damaging |
Het |
Slc6a5 |
G |
T |
7: 49,586,010 (GRCm39) |
G443C |
probably damaging |
Het |
Spag9 |
T |
A |
11: 93,999,278 (GRCm39) |
|
probably null |
Het |
Sptbn1 |
T |
C |
11: 30,087,301 (GRCm39) |
E1033G |
probably damaging |
Het |
Timm17a |
T |
G |
1: 135,237,540 (GRCm39) |
Q39P |
probably damaging |
Het |
Tmem26 |
A |
T |
10: 68,587,103 (GRCm39) |
T184S |
probably damaging |
Het |
Tpi1 |
A |
T |
6: 124,789,891 (GRCm39) |
|
probably null |
Het |
Tssk5 |
T |
C |
15: 76,258,003 (GRCm39) |
Y118C |
possibly damaging |
Het |
Ttll4 |
T |
A |
1: 74,736,629 (GRCm39) |
L1118Q |
possibly damaging |
Het |
Ttll5 |
T |
A |
12: 85,969,788 (GRCm39) |
L691Q |
probably damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,623 (GRCm39) |
H126Q |
possibly damaging |
Het |
Zfp518b |
A |
T |
5: 38,829,224 (GRCm39) |
V927E |
probably damaging |
Het |
Zfp618 |
T |
C |
4: 63,013,774 (GRCm39) |
F213S |
probably damaging |
Het |
Zfp759 |
T |
A |
13: 67,287,668 (GRCm39) |
N406K |
probably benign |
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 |
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 |
R7380:BC034090
|
UTSW |
1 |
155,108,229 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTTGGAAAACGGCACAGCATAAGC -3'
(R):5'- ATTCCCAGGGCTCCACACAGAATG -3'
Sequencing Primer
(F):5'- CATAAGCTGTCCTGCATGGAG -3'
(R):5'- AGGACCTCTCAGTCTAGCAG -3'
|
Posted On |
2014-04-24 |