Incidental Mutation 'R8321:Gm5114'
| ID |
641956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5114
|
| Ensembl Gene |
ENSMUSG00000053742 |
| Gene Name |
predicted gene 5114 |
| Synonyms |
|
| MMRRC Submission |
067723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R8321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
39056718-39062584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39060273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 192
(I192T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108017]
|
| AlphaFold |
W4VSN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108017
AA Change: I192T
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: I192T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4629
|
435 |
580 |
2.5e-65 |
PFAM |
|
low complexity region
|
709 |
726 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap44 |
A |
G |
11: 64,899,053 (GRCm39) |
V708A |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
| Bank1 |
T |
A |
3: 135,940,395 (GRCm39) |
E329V |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,510,029 (GRCm39) |
A859S |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 103,361,416 (GRCm39) |
R641G |
probably damaging |
Het |
| Cfap58 |
A |
G |
19: 47,946,586 (GRCm39) |
E373G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,470,024 (GRCm39) |
T529A |
probably benign |
Het |
| Chtf18 |
G |
A |
17: 25,939,865 (GRCm39) |
T747I |
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,441,684 (GRCm39) |
L2P |
probably benign |
Het |
| Cyp4f18 |
G |
A |
8: 72,742,427 (GRCm39) |
P518S |
possibly damaging |
Het |
| Dmrtc1a |
G |
A |
X: 101,952,221 (GRCm39) |
R8W |
probably benign |
Het |
| Dpyd |
T |
C |
3: 118,575,573 (GRCm39) |
V137A |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,736,317 (GRCm39) |
V739A |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,431 (GRCm39) |
A676T |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,743,686 (GRCm39) |
I241F |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,787,138 (GRCm39) |
H524R |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,251 (GRCm39) |
Y118H |
probably damaging |
Het |
| Gfm1 |
C |
T |
3: 67,337,594 (GRCm39) |
A8V |
probably benign |
Het |
| Gfm2 |
C |
T |
13: 97,299,500 (GRCm39) |
T407M |
possibly damaging |
Het |
| Gldc |
G |
A |
19: 30,120,807 (GRCm39) |
Q375* |
probably null |
Het |
| Gnb1 |
A |
T |
4: 155,639,482 (GRCm39) |
N237I |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,879,096 (GRCm39) |
P4662S |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,820,754 (GRCm39) |
S46F |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 26,461,179 (GRCm39) |
G153E |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
| Invs |
T |
A |
4: 48,283,267 (GRCm39) |
D6E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,628,613 (GRCm39) |
V463A |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,001,862 (GRCm39) |
S96R |
probably damaging |
Het |
| Krtap6-1 |
A |
C |
16: 88,828,624 (GRCm39) |
N7H |
unknown |
Het |
| Matn4 |
A |
T |
2: 164,235,207 (GRCm39) |
V455D |
probably damaging |
Het |
| Nbea |
G |
A |
3: 56,090,518 (GRCm39) |
P47S |
possibly damaging |
Het |
| Oit3 |
T |
C |
10: 59,263,982 (GRCm39) |
H384R |
probably benign |
Het |
| Or1e27-ps1 |
G |
A |
11: 73,556,362 (GRCm39) |
R309H |
unknown |
Het |
| Or8b42 |
A |
T |
9: 38,341,850 (GRCm39) |
I91F |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,400,729 (GRCm39) |
D305V |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,821,715 (GRCm39) |
W314* |
probably null |
Het |
| Pask |
G |
A |
1: 93,248,377 (GRCm39) |
R975C |
possibly damaging |
Het |
| Pate13 |
G |
T |
9: 35,820,749 (GRCm39) |
C111F |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,640,380 (GRCm39) |
N542S |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sez6l2 |
C |
A |
7: 126,557,588 (GRCm39) |
T334N |
probably damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,001,071 (GRCm39) |
T256A |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,387,609 (GRCm39) |
N545Y |
probably damaging |
Het |
| Sprtn |
A |
T |
8: 125,629,994 (GRCm39) |
D429V |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,140,068 (GRCm39) |
V1389A |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,284,349 (GRCm39) |
C912F |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 74,024,939 (GRCm39) |
|
probably null |
Het |
| Tprg1l |
A |
G |
4: 154,244,860 (GRCm39) |
V76A |
probably benign |
Het |
| Trav12-2 |
G |
T |
14: 53,853,840 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
C |
15: 27,881,412 (GRCm39) |
D612G |
possibly damaging |
Het |
| Usp6nl |
A |
T |
2: 6,395,900 (GRCm39) |
Q36H |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,975,544 (GRCm39) |
M167K |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,466,187 (GRCm39) |
L2140Q |
probably damaging |
Het |
| Zfp512b |
A |
G |
2: 181,228,931 (GRCm39) |
V678A |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,242,992 (GRCm39) |
S658P |
probably damaging |
Het |
| Zscan22 |
A |
G |
7: 12,637,625 (GRCm39) |
S6G |
probably benign |
Het |
|
| Other mutations in Gm5114 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Gm5114
|
APN |
7 |
39,060,071 (GRCm39) |
splice site |
probably benign |
|
|
IGL01295:Gm5114
|
APN |
7 |
39,057,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01349:Gm5114
|
APN |
7 |
39,058,531 (GRCm39) |
missense |
probably benign |
|
|
IGL01633:Gm5114
|
APN |
7 |
39,057,490 (GRCm39) |
missense |
probably benign |
|
|
IGL01634:Gm5114
|
APN |
7 |
39,058,071 (GRCm39) |
missense |
probably benign |
|
|
IGL02072:Gm5114
|
APN |
7 |
39,060,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4304:Gm5114
|
UTSW |
7 |
39,060,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4304:Gm5114
|
UTSW |
7 |
39,060,529 (GRCm39) |
missense |
probably benign |
|
|
R0034:Gm5114
|
UTSW |
7 |
39,058,282 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0127:Gm5114
|
UTSW |
7 |
39,057,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0328:Gm5114
|
UTSW |
7 |
39,057,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Gm5114
|
UTSW |
7 |
39,058,233 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0693:Gm5114
|
UTSW |
7 |
39,058,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1006:Gm5114
|
UTSW |
7 |
39,058,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:Gm5114
|
UTSW |
7 |
39,058,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Gm5114
|
UTSW |
7 |
39,058,621 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3834:Gm5114
|
UTSW |
7 |
39,058,161 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4320:Gm5114
|
UTSW |
7 |
39,057,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Gm5114
|
UTSW |
7 |
39,057,792 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5443:Gm5114
|
UTSW |
7 |
39,058,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5471:Gm5114
|
UTSW |
7 |
39,058,534 (GRCm39) |
nonsense |
probably null |
|
|
R5707:Gm5114
|
UTSW |
7 |
39,060,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6129:Gm5114
|
UTSW |
7 |
39,058,024 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6234:Gm5114
|
UTSW |
7 |
39,058,768 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6326:Gm5114
|
UTSW |
7 |
39,057,579 (GRCm39) |
missense |
probably benign |
|
|
R6443:Gm5114
|
UTSW |
7 |
39,057,141 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6530:Gm5114
|
UTSW |
7 |
39,057,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Gm5114
|
UTSW |
7 |
39,057,997 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6770:Gm5114
|
UTSW |
7 |
39,057,967 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6885:Gm5114
|
UTSW |
7 |
39,057,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6980:Gm5114
|
UTSW |
7 |
39,058,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7100:Gm5114
|
UTSW |
7 |
39,057,708 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7215:Gm5114
|
UTSW |
7 |
39,060,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7254:Gm5114
|
UTSW |
7 |
39,058,390 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7343:Gm5114
|
UTSW |
7 |
39,058,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Gm5114
|
UTSW |
7 |
39,058,768 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7474:Gm5114
|
UTSW |
7 |
39,057,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7499:Gm5114
|
UTSW |
7 |
39,058,489 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8022:Gm5114
|
UTSW |
7 |
39,058,800 (GRCm39) |
missense |
probably benign |
|
|
R8121:Gm5114
|
UTSW |
7 |
39,057,552 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8201:Gm5114
|
UTSW |
7 |
39,060,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8212:Gm5114
|
UTSW |
7 |
39,060,676 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8725:Gm5114
|
UTSW |
7 |
39,060,657 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8752:Gm5114
|
UTSW |
7 |
39,057,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8891:Gm5114
|
UTSW |
7 |
39,057,718 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8934:Gm5114
|
UTSW |
7 |
39,060,553 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8969:Gm5114
|
UTSW |
7 |
39,058,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Gm5114
|
UTSW |
7 |
39,060,486 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9419:Gm5114
|
UTSW |
7 |
39,057,540 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9453:Gm5114
|
UTSW |
7 |
39,058,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Gm5114
|
UTSW |
7 |
39,057,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gm5114
|
UTSW |
7 |
39,058,750 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCTGGCATGGACTGAGC -3'
(R):5'- TTGACCAGGACACTACACTCTC -3'
Sequencing Primer
(F):5'- TCTGGCATGGACTGAGCAGATG -3'
(R):5'- CTGGCTGTGACAAACCAGTGTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation