Incidental Mutation 'R8558:BC034090'
ID |
660821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
BC034090
|
Ensembl Gene |
ENSMUSG00000033722 |
Gene Name |
cDNA sequence BC034090 |
Synonyms |
|
MMRRC Submission |
068521-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R8558 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
155088217-155120190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155097085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 671
(H671L)
|
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: H671L
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000037456 Gene: ENSMUSG00000033722 AA Change: H671L
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 |
possibly damaging
Transcript: ENSMUST00000186156
AA Change: H1033L
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139623 Gene: ENSMUSG00000033722 AA Change: H1033L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
T |
10: 100,430,497 (GRCm39) |
R51S |
probably benign |
Het |
1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
Abcb5 |
T |
C |
12: 118,841,566 (GRCm39) |
T960A |
probably benign |
Het |
Abcc3 |
A |
G |
11: 94,242,623 (GRCm39) |
|
probably null |
Het |
Adamtsl3 |
A |
T |
7: 82,077,600 (GRCm39) |
D95V |
possibly damaging |
Het |
Ash1l |
T |
A |
3: 88,891,713 (GRCm39) |
S1197R |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,102,750 (GRCm39) |
M1443K |
|
Het |
Btnl9 |
T |
C |
11: 49,071,619 (GRCm39) |
E68G |
probably benign |
Het |
C1qtnf1 |
A |
T |
11: 118,339,149 (GRCm39) |
Y273F |
probably damaging |
Het |
C4b |
A |
T |
17: 34,955,541 (GRCm39) |
C714S |
probably damaging |
Het |
Carmil1 |
G |
A |
13: 24,209,863 (GRCm39) |
T1204I |
probably benign |
Het |
Cdk12 |
T |
C |
11: 98,101,915 (GRCm39) |
L591P |
unknown |
Het |
Ces2f |
T |
A |
8: 105,679,758 (GRCm39) |
L417* |
probably null |
Het |
Chl1 |
T |
A |
6: 103,685,390 (GRCm39) |
S810R |
probably benign |
Het |
Ckap2 |
A |
G |
8: 22,658,811 (GRCm39) |
V644A |
possibly damaging |
Het |
Ctdsp2 |
T |
A |
10: 126,829,746 (GRCm39) |
V126E |
probably damaging |
Het |
Dok6 |
G |
T |
18: 89,492,066 (GRCm39) |
H170Q |
probably damaging |
Het |
Dynlrb1 |
T |
C |
2: 155,084,728 (GRCm39) |
|
probably null |
Het |
Eif5b |
T |
C |
1: 38,083,795 (GRCm39) |
L757S |
probably damaging |
Het |
Epas1 |
A |
C |
17: 87,116,896 (GRCm39) |
T189P |
possibly damaging |
Het |
Epha10 |
C |
A |
4: 124,788,777 (GRCm39) |
N283K |
|
Het |
Epha5 |
C |
A |
5: 84,206,975 (GRCm39) |
G853C |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,594,493 (GRCm39) |
H831Q |
probably damaging |
Het |
Gcnt3 |
T |
A |
9: 69,941,996 (GRCm39) |
K191* |
probably null |
Het |
Gm14226 |
T |
A |
2: 154,866,909 (GRCm39) |
S289T |
probably benign |
Het |
Gm4846 |
T |
A |
1: 166,314,674 (GRCm39) |
D323V |
probably damaging |
Het |
Golga3 |
G |
T |
5: 110,356,421 (GRCm39) |
R1036L |
possibly damaging |
Het |
Gopc |
T |
C |
10: 52,229,580 (GRCm39) |
Q213R |
probably damaging |
Het |
Hrh1 |
G |
A |
6: 114,457,564 (GRCm39) |
V282M |
probably benign |
Het |
Ighv5-4 |
T |
C |
12: 113,561,078 (GRCm39) |
Y114C |
probably damaging |
Het |
Igkv10-94 |
A |
T |
6: 68,681,636 (GRCm39) |
I68N |
probably damaging |
Het |
Kcnj3 |
A |
G |
2: 55,336,875 (GRCm39) |
D247G |
possibly damaging |
Het |
Lcn6 |
C |
A |
2: 25,570,718 (GRCm39) |
S102Y |
probably damaging |
Het |
Matk |
C |
A |
10: 81,096,765 (GRCm39) |
H232N |
probably benign |
Het |
Mcm9 |
C |
T |
10: 53,492,068 (GRCm39) |
V366I |
probably benign |
Het |
Nadk |
A |
G |
4: 155,669,844 (GRCm39) |
I176V |
probably benign |
Het |
Nlrp12 |
A |
G |
7: 3,298,111 (GRCm39) |
L20P |
probably damaging |
Het |
Oga |
T |
C |
19: 45,746,511 (GRCm39) |
S763G |
probably benign |
Het |
Or10ag56 |
A |
T |
2: 87,139,583 (GRCm39) |
Q170L |
probably benign |
Het |
Or1e21 |
G |
A |
11: 73,344,309 (GRCm39) |
S243F |
probably damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,329 (GRCm39) |
L247P |
probably damaging |
Het |
Pcdhgb6 |
T |
A |
18: 37,877,237 (GRCm39) |
D648E |
probably damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,362,012 (GRCm39) |
N1018I |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,083,391 (GRCm39) |
K516E |
probably damaging |
Het |
Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
Pnma2 |
C |
T |
14: 67,153,972 (GRCm39) |
A132V |
probably benign |
Het |
Prkn |
T |
C |
17: 11,456,472 (GRCm39) |
S99P |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,099,602 (GRCm39) |
E1702G |
probably damaging |
Het |
Qars1 |
T |
A |
9: 108,392,422 (GRCm39) |
H756Q |
probably benign |
Het |
Rab5a |
A |
G |
17: 53,790,877 (GRCm39) |
|
probably benign |
Het |
Rars2 |
A |
G |
4: 34,657,199 (GRCm39) |
D515G |
probably damaging |
Het |
Rpe65 |
T |
A |
3: 159,320,429 (GRCm39) |
C329S |
probably damaging |
Het |
Rps6ka2 |
G |
A |
17: 7,523,316 (GRCm39) |
V231M |
possibly damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Scrt1 |
G |
T |
15: 76,403,843 (GRCm39) |
S49* |
probably null |
Het |
Sec23b |
C |
G |
2: 144,428,308 (GRCm39) |
D640E |
possibly damaging |
Het |
Setdb1 |
C |
T |
3: 95,261,979 (GRCm39) |
V96M |
possibly damaging |
Het |
Sik3 |
C |
A |
9: 46,066,746 (GRCm39) |
A175E |
probably damaging |
Het |
Smarcad1 |
A |
G |
6: 65,060,908 (GRCm39) |
K463E |
probably benign |
Het |
Sobp |
A |
C |
10: 43,003,888 (GRCm39) |
C154G |
probably damaging |
Het |
Sox6 |
A |
G |
7: 115,141,033 (GRCm39) |
S482P |
probably benign |
Het |
Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
Spink11 |
T |
A |
18: 44,324,748 (GRCm39) |
R75* |
probably null |
Het |
Sptb |
T |
C |
12: 76,659,561 (GRCm39) |
H1113R |
probably benign |
Het |
Sypl2 |
A |
T |
3: 108,125,004 (GRCm39) |
V119E |
probably damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,427,903 (GRCm39) |
S20G |
unknown |
Het |
Tektl1 |
T |
C |
10: 78,583,035 (GRCm39) |
K450E |
probably damaging |
Het |
Top2a |
A |
T |
11: 98,912,549 (GRCm39) |
V106D |
probably damaging |
Het |
Tspyl4 |
G |
C |
10: 34,174,261 (GRCm39) |
R251P |
probably damaging |
Het |
Ttc21a |
T |
A |
9: 119,787,835 (GRCm39) |
L801Q |
probably damaging |
Het |
Vgll3 |
A |
G |
16: 65,624,844 (GRCm39) |
E64G |
probably damaging |
Het |
Vmn2r30 |
A |
G |
7: 7,315,655 (GRCm39) |
I726T |
possibly damaging |
Het |
Vmn2r81 |
T |
C |
10: 79,106,467 (GRCm39) |
S482P |
possibly damaging |
Het |
Wasf1 |
T |
G |
10: 40,806,648 (GRCm39) |
M97R |
possibly damaging |
Het |
Wdr33 |
T |
A |
18: 31,962,947 (GRCm39) |
M98K |
probably benign |
Het |
Wdr73 |
G |
A |
7: 80,548,254 (GRCm39) |
T95I |
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 |
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'- ACAGGATTAAGGGTCACTCACAC -3'
(R):5'- ATCACTTGAGGCCAGTGCAG -3'
Sequencing Primer
(F):5'- TTAAGGGTCACTCACACACAGTAAG -3'
(R):5'- AGGAGGAGTAGCATTACCTCTGC -3'
|
Posted On |
2021-03-08 |