Incidental Mutation 'R5891:BC034090'
| ID |
457146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC034090
|
| Ensembl Gene |
ENSMUSG00000033722 |
| Gene Name |
cDNA sequence BC034090 |
| Synonyms |
|
| MMRRC Submission |
044092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5891 (G1)
|
| Quality Score |
135 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155088217-155120190 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 155108793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035914]
[ENSMUST00000186156]
[ENSMUST00000187096]
|
| AlphaFold |
A0A087WP46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035914
|
| SMART Domains |
Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
| 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 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: ENSMUST00000192162
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
96% (85/89) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
T |
16: 56,426,496 (GRCm39) |
T504S |
probably damaging |
Het |
| Adamtsl4 |
C |
A |
3: 95,589,623 (GRCm39) |
R387L |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,253,591 (GRCm39) |
Q1224* |
probably null |
Het |
| Ankrd40 |
T |
A |
11: 94,225,689 (GRCm39) |
F240Y |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,387,136 (GRCm39) |
Y164N |
probably benign |
Het |
| Atf7ip |
A |
T |
6: 136,536,975 (GRCm39) |
E69D |
possibly damaging |
Het |
| Atm |
T |
C |
9: 53,408,459 (GRCm39) |
T1129A |
probably benign |
Het |
| Atosa |
C |
G |
9: 74,911,668 (GRCm39) |
C46W |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,029,995 (GRCm39) |
D340G |
probably benign |
Het |
| Baz2a |
T |
A |
10: 127,957,191 (GRCm39) |
I978N |
probably damaging |
Het |
| Bcl9 |
A |
G |
3: 97,116,204 (GRCm39) |
L830P |
probably damaging |
Het |
| Bicral |
T |
C |
17: 47,112,155 (GRCm39) |
N1015S |
probably benign |
Het |
| Ccdc9b |
T |
A |
2: 118,591,864 (GRCm39) |
D92V |
probably damaging |
Het |
| Ceacam3 |
C |
A |
7: 16,885,718 (GRCm39) |
T107N |
probably damaging |
Het |
| Cep83 |
T |
C |
10: 94,561,537 (GRCm39) |
V109A |
probably benign |
Het |
| Ces1e |
A |
G |
8: 93,929,894 (GRCm39) |
V463A |
possibly damaging |
Het |
| Ciao1 |
A |
G |
2: 127,089,054 (GRCm39) |
V55A |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,328,806 (GRCm39) |
E900G |
probably damaging |
Het |
| Commd3 |
A |
G |
2: 18,678,626 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,988,872 (GRCm39) |
I157T |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,218,073 (GRCm39) |
I828V |
probably benign |
Het |
| Ctso |
T |
A |
3: 81,861,561 (GRCm39) |
F311L |
probably benign |
Het |
| Cxcl10 |
A |
G |
5: 92,496,083 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
C |
A |
12: 71,990,923 (GRCm39) |
T179N |
unknown |
Het |
| Ddx24 |
T |
C |
12: 103,390,317 (GRCm39) |
K225E |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,502,703 (GRCm39) |
T278A |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,966,709 (GRCm39) |
N345K |
possibly damaging |
Het |
| Dnpep |
G |
T |
1: 75,288,456 (GRCm39) |
Q395K |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,580,654 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,991 (GRCm39) |
D177G |
probably damaging |
Het |
| Fam135b |
C |
T |
15: 71,397,652 (GRCm39) |
R136H |
probably damaging |
Het |
| Filip1 |
T |
G |
9: 79,727,142 (GRCm39) |
L492F |
possibly damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,843,002 (GRCm39) |
I359F |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,684,425 (GRCm39) |
W366R |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,028,167 (GRCm39) |
T1808A |
possibly damaging |
Het |
| Ighv5-4 |
C |
A |
12: 113,561,249 (GRCm39) |
R57L |
probably damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,337,674 (GRCm39) |
I69N |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,529,424 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
G |
14: 65,025,854 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
T |
A |
8: 45,723,703 (GRCm39) |
T571S |
probably benign |
Het |
| Mapkbp1 |
G |
T |
2: 119,854,413 (GRCm39) |
E1337* |
probably null |
Het |
| Met |
A |
G |
6: 17,491,538 (GRCm39) |
D100G |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,721,282 (GRCm39) |
D183E |
probably benign |
Het |
| Mrgprb13 |
T |
C |
7: 47,962,007 (GRCm39) |
|
noncoding transcript |
Het |
| Mrgprx2 |
T |
C |
7: 48,131,994 (GRCm39) |
T275A |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,169,337 (GRCm39) |
Q671K |
possibly damaging |
Het |
| Nckipsd |
T |
A |
9: 108,685,808 (GRCm39) |
S42R |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,267,933 (GRCm39) |
|
probably benign |
Het |
| Or12j2 |
C |
T |
7: 139,916,513 (GRCm39) |
T246I |
probably benign |
Het |
| Or12k8 |
T |
A |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,778 (GRCm39) |
L214M |
probably damaging |
Het |
| Or5p5 |
C |
T |
7: 107,414,387 (GRCm39) |
P199S |
probably damaging |
Het |
| Otoa |
T |
A |
7: 120,731,583 (GRCm39) |
|
probably null |
Het |
| Pfkm |
T |
A |
15: 98,020,571 (GRCm39) |
C233* |
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,241,896 (GRCm39) |
Y212C |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,412,756 (GRCm39) |
D1781V |
possibly damaging |
Het |
| Pttg1ip |
A |
G |
10: 77,418,274 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
A |
7: 100,288,454 (GRCm39) |
|
probably null |
Het |
| Rbm11 |
C |
T |
16: 75,395,725 (GRCm39) |
A132V |
possibly damaging |
Het |
| Septin4 |
G |
T |
11: 87,479,750 (GRCm39) |
|
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,533,575 (GRCm39) |
E210G |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,060,626 (GRCm39) |
F32L |
probably benign |
Het |
| Smad2 |
A |
G |
18: 76,433,046 (GRCm39) |
E326G |
probably damaging |
Het |
| Sp9 |
T |
A |
2: 73,104,595 (GRCm39) |
L383Q |
probably damaging |
Het |
| Stx11 |
T |
C |
10: 12,817,559 (GRCm39) |
N55S |
probably damaging |
Het |
| Tbc1d15 |
T |
A |
10: 115,056,213 (GRCm39) |
Q253L |
probably benign |
Het |
| Tcf7l1 |
T |
A |
6: 72,614,034 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 112,009,153 (GRCm39) |
S1020T |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,800,926 (GRCm39) |
S11P |
probably damaging |
Homo |
| Trpc3 |
G |
T |
3: 36,725,171 (GRCm39) |
D268E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,576,085 (GRCm39) |
V23190A |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,135,937 (GRCm39) |
Y908* |
probably null |
Het |
| Urb2 |
G |
T |
8: 124,757,595 (GRCm39) |
V1101L |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,341,535 (GRCm39) |
D1375E |
probably benign |
Het |
| Zcchc7 |
T |
C |
4: 44,895,838 (GRCm39) |
L262P |
probably damaging |
Het |
| Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,900,877 (GRCm39) |
C269S |
probably damaging |
Het |
| Zfp933 |
T |
C |
4: 147,911,231 (GRCm39) |
K90E |
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 |
|
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 |
|
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'- CCGCATGAGAGTCTAACTTTTCTG -3'
(R):5'- GTAGTTCGGCACCAGAAGAC -3'
Sequencing Primer
(F):5'- GTTTTTCCTCCCTGGGCAGAAG -3'
(R):5'- TTCGGCACCAGAAGACCCTTATTATG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation