Incidental Mutation 'R9004:BC034090'
| ID |
685121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC034090
|
| Ensembl Gene |
ENSMUSG00000033722 |
| Gene Name |
cDNA sequence BC034090 |
| Synonyms |
|
| MMRRC Submission |
068834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R9004 (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 A
at 155102138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 42
(N42I)
|
| 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: N42I
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: N42I
| 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 benign
Transcript: ENSMUST00000186156
AA Change: N404I
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: N404I
| 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 |
possibly damaging
Transcript: ENSMUST00000187096
AA Change: N42I
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: N42I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
101 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,454,197 (GRCm39) |
|
probably benign |
Het |
| 2310057N15Rik |
C |
A |
16: 88,570,986 (GRCm39) |
C18F |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,841,483 (GRCm39) |
M941K |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,075,051 (GRCm39) |
I254T |
probably benign |
Het |
| Abcg8 |
C |
A |
17: 85,004,790 (GRCm39) |
T519K |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,106,378 (GRCm39) |
V1149A |
probably damaging |
Het |
| Alg10b |
A |
G |
15: 90,109,894 (GRCm39) |
Y69C |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,279,921 (GRCm39) |
D529G |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,718,276 (GRCm39) |
C1990S |
probably benign |
Het |
| Bptf |
G |
A |
11: 106,945,713 (GRCm39) |
P2509S |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,225,662 (GRCm39) |
D1042V |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,332,883 (GRCm39) |
V216A |
possibly damaging |
Het |
| Cdr2 |
T |
C |
7: 120,557,722 (GRCm39) |
N268D |
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,453,020 (GRCm39) |
S351G |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,909 (GRCm39) |
C205R |
possibly damaging |
Het |
| Dalrd3 |
C |
A |
9: 108,449,430 (GRCm39) |
D454E |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,713,798 (GRCm39) |
L1622P |
unknown |
Het |
| Eif2s2 |
A |
G |
2: 154,720,404 (GRCm39) |
Y172H |
probably benign |
Het |
| Ell |
T |
A |
8: 71,031,604 (GRCm39) |
S101T |
probably damaging |
Het |
| Faf1 |
A |
G |
4: 109,698,550 (GRCm39) |
T337A |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,649,735 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
T |
C |
12: 11,305,022 (GRCm39) |
|
probably benign |
Het |
| Gfap |
A |
G |
11: 102,782,268 (GRCm39) |
I414T |
probably benign |
Het |
| Ginm1 |
A |
C |
10: 7,651,019 (GRCm39) |
V129G |
probably damaging |
Het |
| Helq |
C |
T |
5: 100,926,598 (GRCm39) |
|
probably benign |
Het |
| Hoxb3 |
A |
G |
11: 96,237,137 (GRCm39) |
D405G |
possibly damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,659,045 (GRCm39) |
V584A |
probably damaging |
Het |
| Iglc2 |
T |
C |
16: 19,017,425 (GRCm39) |
K59R |
probably benign |
Het |
| Inhba |
T |
C |
13: 16,201,526 (GRCm39) |
S363P |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,615,958 (GRCm39) |
K656E |
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,486,171 (GRCm39) |
L492I |
possibly damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Naaladl1 |
C |
A |
19: 6,155,965 (GRCm39) |
D46E |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,910,359 (GRCm39) |
V1279I |
probably benign |
Het |
| Nceh1 |
T |
A |
3: 27,293,726 (GRCm39) |
D161E |
possibly damaging |
Het |
| Nck2 |
A |
T |
1: 43,593,510 (GRCm39) |
N239I |
|
Het |
| Nlrx1 |
C |
T |
9: 44,167,644 (GRCm39) |
R751H |
probably benign |
Het |
| Or10ag54 |
T |
A |
2: 87,099,695 (GRCm39) |
F190Y |
possibly damaging |
Het |
| Or8b46 |
A |
G |
9: 38,450,530 (GRCm39) |
Y113C |
probably benign |
Het |
| Or8g17 |
C |
A |
9: 38,930,580 (GRCm39) |
V86L |
probably benign |
Het |
| Oscar |
A |
T |
7: 3,619,040 (GRCm39) |
C13S |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,763,979 (GRCm39) |
I511F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,518 (GRCm39) |
D331G |
possibly damaging |
Het |
| Pde4c |
C |
T |
8: 71,199,515 (GRCm39) |
S265L |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,662,914 (GRCm39) |
S502G |
probably benign |
Het |
| Pigl |
A |
G |
11: 62,403,779 (GRCm39) |
Y237C |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,799,421 (GRCm39) |
Q2880L |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,406,768 (GRCm39) |
H2335L |
probably benign |
Het |
| Ppp1r17 |
A |
G |
6: 56,008,513 (GRCm39) |
E151G |
probably damaging |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,849 (GRCm39) |
Y11H |
probably damaging |
Het |
| Prss54 |
C |
A |
8: 96,292,137 (GRCm39) |
K147N |
possibly damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,732,687 (GRCm39) |
F526I |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 161,608,314 (GRCm39) |
N661D |
probably benign |
Het |
| Rfpl4b |
T |
C |
10: 38,697,771 (GRCm39) |
|
probably benign |
Het |
| Sdad1 |
T |
C |
5: 92,439,820 (GRCm39) |
T402A |
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,702,859 (GRCm39) |
D178G |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,178,109 (GRCm39) |
L225P |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,018 (GRCm39) |
E105V |
probably benign |
Het |
| Tlk1 |
A |
G |
2: 70,552,290 (GRCm39) |
I520T |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,152,738 (GRCm39) |
V445A |
probably benign |
Het |
| Tomm6 |
T |
C |
17: 47,998,833 (GRCm39) |
D40G |
possibly damaging |
Het |
| Traf6 |
C |
A |
2: 101,520,443 (GRCm39) |
Q164K |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,670,284 (GRCm39) |
H150R |
|
Het |
| Ube2g2 |
A |
T |
10: 77,479,434 (GRCm39) |
M126L |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,819,515 (GRCm39) |
D496G |
probably damaging |
Het |
| Vmn1r74 |
A |
C |
7: 11,580,840 (GRCm39) |
I47L |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,624 (GRCm39) |
L112F |
|
Het |
| Wwc2 |
A |
C |
8: 48,373,732 (GRCm39) |
L45V |
probably damaging |
Het |
| Zfp459 |
A |
C |
13: 67,556,714 (GRCm39) |
I123R |
probably 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 |
|
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 |
|
|
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'- AGCTATTCCCTACAATGCGG -3'
(R):5'- TCAGGCACCATGGGAGAATG -3'
Sequencing Primer
(F):5'- TAGAGGTCCTTGGTCCACAG -3'
(R):5'- AATGTGCCCCAGAGTGGTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation