Incidental Mutation 'R4545:Mndal'
| ID |
333703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mndal
|
| Ensembl Gene |
ENSMUSG00000090272 |
| Gene Name |
myeloid nuclear differentiation antigen like |
| Synonyms |
Ifi212 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173684786-173708038 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 173703230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 58
(Y58*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111210]
[ENSMUST00000186442]
[ENSMUST00000188804]
[ENSMUST00000190071]
[ENSMUST00000190651]
|
| AlphaFold |
D0QMC3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111210
AA Change: Y58*
|
| SMART Domains |
Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: Y58*
| 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 null
Transcript: ENSMUST00000186442
AA Change: Y58*
|
| SMART Domains |
Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: Y58*
| 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 |
noncoding transcript
Transcript: ENSMUST00000187636
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188804
AA Change: Y58*
|
| SMART Domains |
Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: Y58*
| 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: ENSMUST00000189501
|
| 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 null
Transcript: ENSMUST00000190651
AA Change: Y58*
|
| SMART Domains |
Protein: ENSMUSP00000140191
Gene: ENSMUSG00000090272
AA Change: Y58*
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
5 |
83 |
1.8e-24 |
SMART |
|
low complexity region
|
170 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191500
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
| Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
| Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
| Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
| Coq8b |
G |
T |
7: 26,932,930 (GRCm39) |
C13F |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Decr1 |
C |
A |
4: 15,930,979 (GRCm39) |
V118F |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
| Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
| Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
| Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
| Or1e30 |
T |
C |
11: 73,677,992 (GRCm39) |
V76A |
probably damaging |
Het |
| Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
| Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
| Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
| Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,550,875 (GRCm39) |
K165E |
possibly 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 |
|
|
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'- GCATATCAGCTGTGATCACAC -3'
(R):5'- TGTTCACTCACATGAGAATATCCTG -3'
Sequencing Primer
(F):5'- TCACACAGGGAGTTAGCAAGTTTG -3'
(R):5'- CACTCACATGAGAATATCCTGTCTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation