Incidental Mutation 'R6917:Gm5591'
ID |
539393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5591
|
Ensembl Gene |
ENSMUSG00000060565 |
Gene Name |
predicted gene 5591 |
Synonyms |
|
MMRRC Submission |
045038-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
R6917 (G1)
|
Quality Score |
167.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
38217563-38227617 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 38221614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 152
(S152C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078695
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079759]
|
AlphaFold |
Q8CDK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079759
AA Change: S152C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078695 Gene: ENSMUSG00000060565 AA Change: S152C
Domain | Start | End | E-Value | Type |
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
Pfam:DUF4629
|
437 |
582 |
1.2e-59 |
PFAM |
low complexity region
|
648 |
660 |
N/A |
INTRINSIC |
low complexity region
|
693 |
704 |
N/A |
INTRINSIC |
low complexity region
|
711 |
723 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.6%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
G |
16: 56,437,684 (GRCm39) |
|
probably null |
Het |
Adcy2 |
A |
T |
13: 68,768,876 (GRCm39) |
M1084K |
possibly damaging |
Het |
Ak1 |
A |
G |
2: 32,521,164 (GRCm39) |
Y95C |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 53,115,951 (GRCm39) |
E1018G |
probably null |
Het |
Ccdc175 |
A |
G |
12: 72,231,679 (GRCm39) |
S27P |
probably damaging |
Het |
Ddx31 |
C |
T |
2: 28,782,421 (GRCm39) |
T588I |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 49,997,215 (GRCm39) |
W504R |
probably damaging |
Het |
Echs1 |
T |
G |
7: 139,689,924 (GRCm39) |
M239L |
probably benign |
Het |
Eno1b |
A |
G |
18: 48,180,656 (GRCm39) |
D278G |
probably benign |
Het |
Eno3 |
A |
G |
11: 70,552,262 (GRCm39) |
T305A |
probably benign |
Het |
Gngt1 |
A |
G |
6: 3,996,680 (GRCm39) |
D42G |
probably benign |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
H2-Aa |
T |
C |
17: 34,502,681 (GRCm39) |
T79A |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,743,013 (GRCm39) |
Y2116N |
probably damaging |
Het |
Kdm6b |
A |
G |
11: 69,297,419 (GRCm39) |
M311T |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,622,268 (GRCm39) |
F277L |
probably benign |
Het |
Lamp1 |
T |
C |
8: 13,222,563 (GRCm39) |
I249T |
probably damaging |
Het |
Ldb3 |
G |
A |
14: 34,277,321 (GRCm39) |
A351V |
probably null |
Het |
Lmo7 |
A |
G |
14: 102,155,446 (GRCm39) |
E996G |
probably damaging |
Het |
Lsr |
T |
C |
7: 30,657,721 (GRCm39) |
D413G |
possibly damaging |
Het |
Magel2 |
CCCTCCTCCTCCTCCTCCTCCT |
CCCTCCTCCTCCTCCTCCT |
7: 62,027,592 (GRCm39) |
|
probably benign |
Het |
Myo7a |
T |
C |
7: 97,744,970 (GRCm39) |
E290G |
possibly damaging |
Het |
Nos2 |
C |
T |
11: 78,842,053 (GRCm39) |
T735M |
possibly damaging |
Het |
Or10ak12 |
A |
T |
4: 118,666,326 (GRCm39) |
L245H |
probably damaging |
Het |
Or11h6 |
A |
G |
14: 50,880,680 (GRCm39) |
K314R |
possibly damaging |
Het |
Or8g36 |
T |
A |
9: 39,422,495 (GRCm39) |
I174L |
probably damaging |
Het |
Pik3c2g |
T |
C |
6: 139,841,899 (GRCm39) |
L768P |
probably benign |
Het |
Plod2 |
T |
A |
9: 92,475,823 (GRCm39) |
V302D |
possibly damaging |
Het |
Ptgdr |
A |
T |
14: 45,096,067 (GRCm39) |
V215E |
possibly damaging |
Het |
Rad51d |
C |
T |
11: 82,770,159 (GRCm39) |
R199Q |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Rtel1 |
ATT |
ATTTT |
2: 180,980,070 (GRCm39) |
|
probably null |
Het |
Sgip1 |
A |
G |
4: 102,825,388 (GRCm39) |
R772G |
probably damaging |
Het |
Slc19a2 |
C |
A |
1: 164,088,578 (GRCm39) |
T141N |
probably damaging |
Het |
Sp4 |
G |
T |
12: 118,262,908 (GRCm39) |
N379K |
probably damaging |
Het |
Thrap3 |
A |
G |
4: 126,074,285 (GRCm39) |
|
probably benign |
Het |
Thumpd2 |
T |
G |
17: 81,351,543 (GRCm39) |
I293L |
probably benign |
Het |
Tjp1 |
A |
G |
7: 64,949,436 (GRCm39) |
S1649P |
probably damaging |
Het |
Tssk4 |
A |
G |
14: 55,889,864 (GRCm39) |
S326G |
probably benign |
Het |
Txndc9 |
A |
C |
1: 38,034,887 (GRCm39) |
S6A |
probably benign |
Het |
Uhrf1 |
T |
C |
17: 56,616,574 (GRCm39) |
Y131H |
probably damaging |
Het |
Vnn3 |
A |
G |
10: 23,741,832 (GRCm39) |
D379G |
possibly damaging |
Het |
Vsig2 |
T |
A |
9: 37,452,745 (GRCm39) |
S105T |
probably benign |
Het |
Zfp445 |
A |
T |
9: 122,691,359 (GRCm39) |
|
probably null |
Het |
Zfp654 |
A |
T |
16: 64,606,834 (GRCm39) |
M456K |
probably damaging |
Het |
|
Other mutations in Gm5591 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Gm5591
|
APN |
7 |
38,219,838 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02277:Gm5591
|
APN |
7 |
38,218,462 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02277:Gm5591
|
APN |
7 |
38,219,856 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02503:Gm5591
|
APN |
7 |
38,219,433 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02897:Gm5591
|
APN |
7 |
38,219,466 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02899:Gm5591
|
APN |
7 |
38,218,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R1599:Gm5591
|
UTSW |
7 |
38,219,794 (GRCm39) |
missense |
probably benign |
|
R2365:Gm5591
|
UTSW |
7 |
38,218,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R3054:Gm5591
|
UTSW |
7 |
38,220,058 (GRCm39) |
missense |
probably benign |
0.35 |
R4619:Gm5591
|
UTSW |
7 |
38,220,072 (GRCm39) |
missense |
probably benign |
0.04 |
R4722:Gm5591
|
UTSW |
7 |
38,218,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R4779:Gm5591
|
UTSW |
7 |
38,221,680 (GRCm39) |
missense |
probably damaging |
0.96 |
R5079:Gm5591
|
UTSW |
7 |
38,221,560 (GRCm39) |
missense |
probably benign |
0.01 |
R5237:Gm5591
|
UTSW |
7 |
38,221,631 (GRCm39) |
missense |
probably benign |
0.31 |
R5267:Gm5591
|
UTSW |
7 |
38,218,338 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6337:Gm5591
|
UTSW |
7 |
38,221,319 (GRCm39) |
missense |
probably benign |
0.00 |
R6458:Gm5591
|
UTSW |
7 |
38,218,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R6671:Gm5591
|
UTSW |
7 |
38,219,523 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6709:Gm5591
|
UTSW |
7 |
38,221,499 (GRCm39) |
missense |
probably benign |
0.31 |
R6874:Gm5591
|
UTSW |
7 |
38,219,715 (GRCm39) |
missense |
probably damaging |
0.97 |
R6993:Gm5591
|
UTSW |
7 |
38,218,647 (GRCm39) |
missense |
probably benign |
|
R7446:Gm5591
|
UTSW |
7 |
38,218,933 (GRCm39) |
missense |
probably benign |
0.16 |
R7519:Gm5591
|
UTSW |
7 |
38,220,094 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7596:Gm5591
|
UTSW |
7 |
38,219,608 (GRCm39) |
missense |
probably benign |
|
R7923:Gm5591
|
UTSW |
7 |
38,221,338 (GRCm39) |
missense |
probably benign |
0.13 |
R8003:Gm5591
|
UTSW |
7 |
38,219,183 (GRCm39) |
missense |
probably damaging |
0.96 |
R8027:Gm5591
|
UTSW |
7 |
38,221,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R8058:Gm5591
|
UTSW |
7 |
38,218,363 (GRCm39) |
missense |
probably benign |
0.00 |
R8242:Gm5591
|
UTSW |
7 |
38,219,746 (GRCm39) |
missense |
probably benign |
|
R8719:Gm5591
|
UTSW |
7 |
38,221,614 (GRCm39) |
missense |
probably benign |
0.03 |
R8943:Gm5591
|
UTSW |
7 |
38,219,727 (GRCm39) |
missense |
probably benign |
0.21 |
R9314:Gm5591
|
UTSW |
7 |
38,221,884 (GRCm39) |
missense |
probably benign |
0.00 |
R9403:Gm5591
|
UTSW |
7 |
38,221,680 (GRCm39) |
missense |
probably damaging |
0.96 |
R9403:Gm5591
|
UTSW |
7 |
38,219,572 (GRCm39) |
missense |
probably benign |
0.00 |
R9424:Gm5591
|
UTSW |
7 |
38,219,721 (GRCm39) |
missense |
probably damaging |
1.00 |
RF052:Gm5591
|
UTSW |
7 |
38,221,999 (GRCm39) |
frame shift |
probably null |
|
RF062:Gm5591
|
UTSW |
7 |
38,221,759 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGCTCACAGGGTAGGACAC -3'
(R):5'- TGGTGGAGCTTACTGAACAG -3'
Sequencing Primer
(F):5'- CACAGAGCTGTAGGACTGC -3'
(R):5'- CTATCCAGGTGTTCTCAAGTGG -3'
|
Posted On |
2018-11-06 |