Incidental Mutation 'R1081:Mndal'
| ID |
152679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mndal
|
| Ensembl Gene |
ENSMUSG00000090272 |
| Gene Name |
myeloid nuclear differentiation antigen like |
| Synonyms |
Ifi212 |
| MMRRC Submission |
039167-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1081 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173684786-173708038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 173687788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 482
(E482V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111210]
[ENSMUST00000186442]
[ENSMUST00000188804]
[ENSMUST00000190071]
|
| AlphaFold |
D0QMC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111210
AA Change: E482V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: E482V
| 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 benign
Transcript: ENSMUST00000186442
AA Change: E429V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: E429V
| 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 |
probably benign
Transcript: ENSMUST00000188804
AA Change: E482V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: E482V
| 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 |
noncoding transcript
Transcript: ENSMUST00000189474
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000220623
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
| Atxn2l |
T |
C |
7: 126,093,384 (GRCm39) |
Y785C |
probably damaging |
Het |
| Atxn3 |
T |
G |
12: 101,900,608 (GRCm39) |
D225A |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
| Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
| Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
| Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
| Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
| Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
| Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,497,861 (GRCm39) |
L488P |
probably benign |
Het |
| Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
| Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,180,549 (GRCm39) |
S285N |
probably benign |
Het |
| Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
| Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
| P2rx4 |
A |
G |
5: 122,865,296 (GRCm39) |
E307G |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
| Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
| Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
| Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
| Tcf25 |
T |
C |
8: 124,108,212 (GRCm39) |
V89A |
probably benign |
Het |
| Trim7 |
G |
T |
11: 48,740,532 (GRCm39) |
V210L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
| Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,392,779 (GRCm39) |
I152V |
possibly damaging |
Het |
| Zfp628 |
A |
G |
7: 4,923,182 (GRCm39) |
H468R |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
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 |
|
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 |
|
|
R6933:Mndal
|
UTSW |
1 |
173,703,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTTCAACTTTCCCCAGGATCAGCC -3'
(R):5'- TTGGGATACAAACACACTAGATGATGCC -3'
Sequencing Primer
(F):5'- GCCAACTCCTAATGATTAAAGCTG -3'
(R):5'- AACTTCCTGGGTAAGACTTCACTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation