Incidental Mutation 'R6933:Mndal'
| ID |
540143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mndal
|
| Ensembl Gene |
ENSMUSG00000090272 |
| Gene Name |
myeloid nuclear differentiation antigen like |
| Synonyms |
Ifi212 |
| MMRRC Submission |
045048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6933 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173684786-173708038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 173703249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 52
(E52V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111210]
[ENSMUST00000186442]
[ENSMUST00000188804]
[ENSMUST00000190071]
[ENSMUST00000190651]
|
| AlphaFold |
D0QMC3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000111210
AA Change: E52V
|
| SMART Domains |
Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: E52V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
5 |
83 |
3.71e-20 |
SMART |
|
internal_repeat_1
|
152 |
166 |
2.38e-7 |
PROSPERO |
|
low complexity region
|
170 |
200 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
208 |
222 |
2.38e-7 |
PROSPERO |
|
low complexity region
|
225 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
311 |
479 |
3.4e-76 |
PFAM |
|
low complexity region
|
497 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186442
AA Change: E52V
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: E52V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
5 |
83 |
1.8e-24 |
SMART |
|
internal_repeat_1
|
152 |
166 |
4.72e-7 |
PROSPERO |
|
low complexity region
|
170 |
200 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
208 |
222 |
4.72e-7 |
PROSPERO |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
250 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
258 |
427 |
2.9e-83 |
PFAM |
|
low complexity region
|
444 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000188804
AA Change: E52V
|
| SMART Domains |
Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: E52V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
5 |
83 |
3.71e-20 |
SMART |
|
internal_repeat_1
|
152 |
166 |
2.38e-7 |
PROSPERO |
|
low complexity region
|
170 |
200 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
208 |
222 |
2.38e-7 |
PROSPERO |
|
low complexity region
|
225 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
311 |
480 |
4.3e-86 |
PFAM |
|
low complexity region
|
497 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190071
|
| SMART Domains |
Protein: ENSMUSP00000141055
Gene: ENSMUSG00000090272
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
21 |
35 |
3.67e-8 |
PROSPERO |
|
low complexity region
|
39 |
69 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
77 |
91 |
3.67e-8 |
PROSPERO |
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190651
AA Change: E52V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140191
Gene: ENSMUSG00000090272
AA Change: E52V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
5 |
83 |
1.8e-24 |
SMART |
|
low complexity region
|
170 |
182 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6773 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.7%
|
| Validation Efficiency |
93% (41/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
T |
10: 69,740,042 (GRCm39) |
K814N |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,905,352 (GRCm39) |
H231R |
probably damaging |
Het |
| Anks6 |
A |
G |
4: 47,049,164 (GRCm39) |
V247A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,797,728 (GRCm39) |
N568D |
possibly damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,855,373 (GRCm39) |
T366A |
probably benign |
Het |
| Ccr2 |
T |
G |
9: 123,906,161 (GRCm39) |
L147R |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,720,992 (GRCm39) |
V318A |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,792,970 (GRCm39) |
|
probably null |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Clk3 |
A |
T |
9: 57,669,132 (GRCm39) |
Y31N |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,644 (GRCm39) |
Y1148C |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,311,175 (GRCm39) |
V927A |
probably benign |
Het |
| Dync1i1 |
A |
C |
6: 5,913,333 (GRCm39) |
T217P |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,153 (GRCm39) |
V68A |
probably damaging |
Het |
| Ep400 |
C |
A |
5: 110,813,728 (GRCm39) |
K2890N |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,374,897 (GRCm39) |
I481V |
probably benign |
Het |
| Fam83e |
A |
G |
7: 45,371,818 (GRCm39) |
T72A |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,425,418 (GRCm39) |
M59K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,030,131 (GRCm39) |
K1089R |
probably benign |
Het |
| Myom1 |
C |
A |
17: 71,359,666 (GRCm39) |
T446K |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,631,031 (GRCm39) |
F2199I |
possibly damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,199,437 (GRCm39) |
L438Q |
probably damaging |
Het |
| Or52n2c |
A |
G |
7: 104,574,330 (GRCm39) |
C214R |
probably benign |
Het |
| Pet117 |
T |
A |
2: 144,211,019 (GRCm39) |
V13E |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,210 (GRCm39) |
E254G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,627,003 (GRCm39) |
E1485G |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,700,878 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,993,266 (GRCm39) |
Y889N |
probably damaging |
Het |
| Sbf1 |
G |
A |
15: 89,184,572 (GRCm39) |
R1115C |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,645,515 (GRCm39) |
T366S |
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,489,163 (GRCm39) |
I241V |
probably benign |
Het |
| Sox11 |
G |
T |
12: 27,391,493 (GRCm39) |
S305R |
probably damaging |
Het |
| Sox21 |
T |
C |
14: 118,472,725 (GRCm39) |
H108R |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,446,479 (GRCm39) |
S417T |
probably benign |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Traf3 |
T |
C |
12: 111,221,658 (GRCm39) |
V273A |
possibly damaging |
Het |
| Tspyl3 |
T |
C |
2: 153,067,203 (GRCm39) |
T12A |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,126 (GRCm39) |
I830N |
probably damaging |
Het |
| Vps26b |
A |
T |
9: 26,926,613 (GRCm39) |
F129I |
possibly damaging |
Het |
| Washc3 |
A |
G |
10: 88,037,714 (GRCm39) |
N24S |
probably damaging |
Het |
| Xirp2 |
C |
A |
2: 67,345,201 (GRCm39) |
Q2481K |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,478,047 (GRCm39) |
V3554A |
probably damaging |
Het |
|
| Other mutations in Mndal |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Mndal
|
APN |
1 |
173,685,022 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02309:Mndal
|
APN |
1 |
173,702,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02559:Mndal
|
APN |
1 |
173,700,486 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02637:Mndal
|
APN |
1 |
173,685,003 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
LCD18:Mndal
|
UTSW |
1 |
173,707,784 (GRCm39) |
unclassified |
probably benign |
|
|
R0076:Mndal
|
UTSW |
1 |
173,702,013 (GRCm39) |
nonsense |
probably null |
|
|
R0123:Mndal
|
UTSW |
1 |
173,685,079 (GRCm39) |
splice site |
probably benign |
|
|
R0134:Mndal
|
UTSW |
1 |
173,685,079 (GRCm39) |
splice site |
probably benign |
|
|
R0225:Mndal
|
UTSW |
1 |
173,685,079 (GRCm39) |
splice site |
probably benign |
|
|
R0976:Mndal
|
UTSW |
1 |
173,690,411 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1081:Mndal
|
UTSW |
1 |
173,687,788 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1497:Mndal
|
UTSW |
1 |
173,700,441 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1522:Mndal
|
UTSW |
1 |
173,699,032 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1630:Mndal
|
UTSW |
1 |
173,701,958 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1874:Mndal
|
UTSW |
1 |
173,687,933 (GRCm39) |
unclassified |
probably benign |
|
|
R4183:Mndal
|
UTSW |
1 |
173,703,337 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4544:Mndal
|
UTSW |
1 |
173,703,230 (GRCm39) |
nonsense |
probably null |
|
|
R4545:Mndal
|
UTSW |
1 |
173,703,230 (GRCm39) |
nonsense |
probably null |
|
|
R4907:Mndal
|
UTSW |
1 |
173,690,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5066:Mndal
|
UTSW |
1 |
173,703,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Mndal
|
UTSW |
1 |
173,690,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6208:Mndal
|
UTSW |
1 |
173,684,988 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6395:Mndal
|
UTSW |
1 |
173,698,999 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6923:Mndal
|
UTSW |
1 |
173,712,264 (GRCm39) |
splice site |
probably null |
|
|
R7030:Mndal
|
UTSW |
1 |
173,703,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7327:Mndal
|
UTSW |
1 |
173,703,185 (GRCm39) |
missense |
unknown |
|
|
R7648:Mndal
|
UTSW |
1 |
173,684,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8130:Mndal
|
UTSW |
1 |
173,699,111 (GRCm39) |
nonsense |
probably null |
|
|
R8514:Mndal
|
UTSW |
1 |
173,687,758 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8697:Mndal
|
UTSW |
1 |
173,700,558 (GRCm39) |
nonsense |
probably null |
|
|
R9134:Mndal
|
UTSW |
1 |
173,699,096 (GRCm39) |
missense |
unknown |
|
|
R9257:Mndal
|
UTSW |
1 |
173,690,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9458:Mndal
|
UTSW |
1 |
173,687,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mndal
|
UTSW |
1 |
173,701,970 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGGGAGTTAGCAAGTTTGG -3'
(R):5'- TCACTCACATGAGAATATCCTGTCTTG -3'
Sequencing Primer
(F):5'- GAGTTAGCAAGTTTGGGAAGTC -3'
(R):5'- GTGAAAATGTTTGTAATCCTGTGTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation