Incidental Mutation 'R6687:AI661453'
| ID |
527847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AI661453
|
| Ensembl Gene |
ENSMUSG00000034382 |
| Gene Name |
expressed sequence AI661453 |
| Synonyms |
|
| MMRRC Submission |
044805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47747564-47781563 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 47777927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037701]
[ENSMUST00000150819]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037701
|
| SMART Domains |
Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150819
AA Change: D551G
|
| SMART Domains |
Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: D551G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
627 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
628 |
654 |
6.24e-9 |
PROSPERO |
|
low complexity region
|
656 |
671 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
688 |
714 |
6.24e-9 |
PROSPERO |
|
low complexity region
|
853 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
976 |
1016 |
N/A |
INTRINSIC |
|
low complexity region
|
1147 |
1154 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,034,842 (GRCm39) |
F180S |
probably benign |
Het |
| Cfd |
G |
A |
10: 79,727,553 (GRCm39) |
V77M |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
| Fam3c |
G |
C |
6: 22,328,669 (GRCm39) |
P53A |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,574,619 (GRCm39) |
N302D |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
| Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
| Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
| Lrrc14b |
T |
C |
13: 74,508,881 (GRCm39) |
M509V |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
| Mettl18 |
A |
G |
1: 163,824,369 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
| Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
| Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
| Wnt3 |
G |
T |
11: 103,703,411 (GRCm39) |
R298L |
probably damaging |
Het |
|
| Other mutations in AI661453 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01758:AI661453
|
APN |
17 |
47,777,548 (GRCm39) |
intron |
probably benign |
|
|
IGL01995:AI661453
|
APN |
17 |
47,779,442 (GRCm39) |
intron |
probably benign |
|
|
IGL02171:AI661453
|
APN |
17 |
47,777,921 (GRCm39) |
intron |
probably benign |
|
|
IGL02411:AI661453
|
APN |
17 |
47,778,263 (GRCm39) |
intron |
probably benign |
|
|
IGL02422:AI661453
|
APN |
17 |
47,778,017 (GRCm39) |
intron |
probably benign |
|
|
IGL02609:AI661453
|
APN |
17 |
47,779,297 (GRCm39) |
intron |
probably benign |
|
|
IGL02888:AI661453
|
APN |
17 |
47,778,329 (GRCm39) |
intron |
probably benign |
|
|
IGL03024:AI661453
|
APN |
17 |
47,757,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:AI661453
|
UTSW |
17 |
47,780,287 (GRCm39) |
intron |
probably benign |
|
|
R0092:AI661453
|
UTSW |
17 |
47,778,440 (GRCm39) |
intron |
probably benign |
|
|
R0144:AI661453
|
UTSW |
17 |
47,780,224 (GRCm39) |
intron |
probably benign |
|
|
R0330:AI661453
|
UTSW |
17 |
47,757,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:AI661453
|
UTSW |
17 |
47,777,999 (GRCm39) |
intron |
probably benign |
|
|
R0839:AI661453
|
UTSW |
17 |
47,747,752 (GRCm39) |
missense |
probably null |
0.97 |
|
R1350:AI661453
|
UTSW |
17 |
47,778,853 (GRCm39) |
nonsense |
probably null |
|
|
R1436:AI661453
|
UTSW |
17 |
47,777,627 (GRCm39) |
intron |
probably benign |
|
|
R1439:AI661453
|
UTSW |
17 |
47,777,587 (GRCm39) |
intron |
probably benign |
|
|
R1643:AI661453
|
UTSW |
17 |
47,778,791 (GRCm39) |
intron |
probably benign |
|
|
R1994:AI661453
|
UTSW |
17 |
47,777,959 (GRCm39) |
intron |
probably benign |
|
|
R2145:AI661453
|
UTSW |
17 |
47,777,023 (GRCm39) |
intron |
probably benign |
|
|
R2986:AI661453
|
UTSW |
17 |
47,777,697 (GRCm39) |
nonsense |
probably null |
|
|
R4398:AI661453
|
UTSW |
17 |
47,779,042 (GRCm39) |
intron |
probably benign |
|
|
R4809:AI661453
|
UTSW |
17 |
47,778,112 (GRCm39) |
intron |
probably benign |
|
|
R4913:AI661453
|
UTSW |
17 |
47,779,480 (GRCm39) |
nonsense |
probably null |
|
|
R4972:AI661453
|
UTSW |
17 |
47,777,324 (GRCm39) |
intron |
probably benign |
|
|
R6430:AI661453
|
UTSW |
17 |
47,777,722 (GRCm39) |
intron |
probably benign |
|
|
R7494:AI661453
|
UTSW |
17 |
47,779,105 (GRCm39) |
missense |
unknown |
|
|
R7598:AI661453
|
UTSW |
17 |
47,777,045 (GRCm39) |
missense |
unknown |
|
|
R7635:AI661453
|
UTSW |
17 |
47,778,676 (GRCm39) |
missense |
unknown |
|
|
R7753:AI661453
|
UTSW |
17 |
47,778,439 (GRCm39) |
nonsense |
probably null |
|
|
R7920:AI661453
|
UTSW |
17 |
47,779,331 (GRCm39) |
missense |
unknown |
|
|
R7974:AI661453
|
UTSW |
17 |
47,777,006 (GRCm39) |
missense |
unknown |
|
|
R8022:AI661453
|
UTSW |
17 |
47,777,161 (GRCm39) |
missense |
unknown |
|
|
R8489:AI661453
|
UTSW |
17 |
47,777,254 (GRCm39) |
intron |
probably benign |
|
|
R8771:AI661453
|
UTSW |
17 |
47,777,683 (GRCm39) |
missense |
unknown |
|
|
R9316:AI661453
|
UTSW |
17 |
47,747,832 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9596:AI661453
|
UTSW |
17 |
47,780,411 (GRCm39) |
missense |
unknown |
|
|
R9743:AI661453
|
UTSW |
17 |
47,780,240 (GRCm39) |
missense |
unknown |
|
|
R9766:AI661453
|
UTSW |
17 |
47,757,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGTGGGACCAGGAAAG -3'
(R):5'- GGCAGGCTTATGGAATCTGC -3'
Sequencing Primer
(F):5'- AAGAGGATCGGTCACTCAGCC -3'
(R):5'- GCAGGCTTATGGAATCTGCCATTATC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation