Incidental Mutation 'IGL01982:BC034090'
| ID |
182747 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
BC034090
|
| Ensembl Gene |
ENSMUSG00000033722 |
| Gene Name |
cDNA sequence BC034090 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL01982
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
155088217-155120190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155099078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 569
(E569G)
|
| 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: E569G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: E569G
| 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 damaging
Transcript: ENSMUST00000186156
AA Change: E931G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: E931G
| 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: ENSMUST00000190976
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,385,857 (GRCm39) |
S254A |
probably benign |
Het |
| Abca7 |
T |
G |
10: 79,838,475 (GRCm39) |
L583R |
probably damaging |
Het |
| Acp1 |
A |
T |
12: 30,961,491 (GRCm39) |
L14H |
possibly damaging |
Het |
| Adar |
A |
G |
3: 89,645,397 (GRCm39) |
I3V |
probably benign |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,845 (GRCm39) |
I103V |
probably benign |
Het |
| Asic3 |
C |
A |
5: 24,622,719 (GRCm39) |
T523N |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,419,326 (GRCm39) |
V1732A |
probably benign |
Het |
| Atad3a |
C |
T |
4: 155,838,384 (GRCm39) |
R211Q |
possibly damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,178,299 (GRCm39) |
Y2286C |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,767,521 (GRCm39) |
N237S |
probably benign |
Het |
| Bysl |
C |
A |
17: 47,921,996 (GRCm39) |
|
probably null |
Het |
| C2cd6 |
T |
C |
1: 59,106,932 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,861,003 (GRCm39) |
F925L |
probably damaging |
Het |
| Cdca2 |
A |
T |
14: 67,915,168 (GRCm39) |
V697E |
probably damaging |
Het |
| Cers1 |
A |
G |
8: 70,776,081 (GRCm39) |
D324G |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,732 (GRCm39) |
I91F |
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,187,335 (GRCm39) |
C11Y |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,711,252 (GRCm39) |
N142S |
possibly damaging |
Het |
| Cyp3a59 |
G |
T |
5: 146,041,545 (GRCm39) |
S363I |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,132,919 (GRCm39) |
D567E |
probably benign |
Het |
| Esf1 |
G |
A |
2: 140,006,448 (GRCm39) |
A233V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,887,107 (GRCm39) |
I2630F |
possibly damaging |
Het |
| Fyb1 |
A |
T |
15: 6,609,658 (GRCm39) |
E77V |
probably null |
Het |
| Gjb6 |
C |
A |
14: 57,362,030 (GRCm39) |
W77L |
probably damaging |
Het |
| Gm21983 |
A |
G |
7: 26,879,703 (GRCm39) |
V88A |
possibly damaging |
Het |
| Gm8247 |
A |
G |
14: 44,823,088 (GRCm39) |
T52A |
probably damaging |
Het |
| Gpr108 |
T |
C |
17: 57,544,877 (GRCm39) |
K329E |
probably damaging |
Het |
| Gpr141 |
T |
A |
13: 19,935,908 (GRCm39) |
H289L |
probably benign |
Het |
| Ilvbl |
T |
C |
10: 78,414,856 (GRCm39) |
Y240H |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,947,159 (GRCm39) |
A1868T |
probably benign |
Het |
| Lrmda |
A |
C |
14: 22,634,550 (GRCm39) |
N112T |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,142,108 (GRCm39) |
Y1334C |
probably damaging |
Het |
| Macc1 |
C |
A |
12: 119,409,369 (GRCm39) |
P46T |
probably benign |
Het |
| Madd |
A |
T |
2: 91,006,052 (GRCm39) |
F381Y |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,128,677 (GRCm39) |
Q38* |
probably null |
Het |
| Mcm4 |
A |
T |
16: 15,448,284 (GRCm39) |
D424E |
possibly damaging |
Het |
| Micu1 |
T |
A |
10: 59,699,100 (GRCm39) |
M463K |
possibly damaging |
Het |
| Mkrn2os |
A |
G |
6: 115,562,492 (GRCm39) |
L157P |
probably damaging |
Het |
| Nectin2 |
A |
G |
7: 19,451,487 (GRCm39) |
S516P |
probably damaging |
Het |
| Nme5 |
T |
A |
18: 34,702,928 (GRCm39) |
D120V |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,869,282 (GRCm39) |
N2S |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,595,245 (GRCm39) |
|
probably benign |
Het |
| Omd |
T |
C |
13: 49,742,973 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Phf8-ps |
T |
G |
17: 33,285,289 (GRCm39) |
E504D |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,803 (GRCm39) |
|
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 51,989,891 (GRCm39) |
F6L |
probably benign |
Het |
| Rab1a |
T |
C |
11: 20,174,717 (GRCm39) |
S97P |
probably benign |
Het |
| Ranbp3l |
G |
A |
15: 9,058,827 (GRCm39) |
G359R |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,334,094 (GRCm39) |
H3101L |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,946 (GRCm39) |
V623A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,911 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
A |
G |
2: 29,909,980 (GRCm39) |
D1780G |
probably damaging |
Het |
| Tgm7 |
G |
T |
2: 120,924,106 (GRCm39) |
Y605* |
probably null |
Het |
| Tmem106b |
T |
C |
6: 13,071,968 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
G |
A |
1: 58,965,814 (GRCm39) |
A120V |
possibly damaging |
Het |
| Trappc8 |
G |
A |
18: 21,007,769 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,057,970 (GRCm39) |
T973A |
probably benign |
Het |
| Ttyh3 |
C |
A |
5: 140,621,829 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
C |
5: 87,390,291 (GRCm39) |
I385S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,039,180 (GRCm39) |
N1220S |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,623,773 (GRCm39) |
I155N |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,439,050 (GRCm39) |
Q377* |
probably null |
Het |
| Washc2 |
A |
T |
6: 116,213,150 (GRCm39) |
E570D |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,657,699 (GRCm39) |
V168A |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,788 (GRCm39) |
C169S |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation