Incidental Mutation 'R4183:Mndal'
ID |
319801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mndal
|
Ensembl Gene |
ENSMUSG00000090272 |
Gene Name |
myeloid nuclear differentiation antigen like |
Synonyms |
Ifi212 |
MMRRC Submission |
041019-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R4183 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
173684786-173708038 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 173703337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 23
(T23S)
|
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: T23S
|
SMART Domains |
Protein: ENSMUSP00000106841 Gene: ENSMUSG00000090272 AA Change: T23S
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 |
possibly damaging
Transcript: ENSMUST00000186442
AA Change: T23S
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140539 Gene: ENSMUSG00000090272 AA Change: T23S
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 |
unknown
Transcript: ENSMUST00000188804
AA Change: T23S
|
SMART Domains |
Protein: ENSMUSP00000140610 Gene: ENSMUSG00000090272 AA Change: T23S
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 |
possibly damaging
Transcript: ENSMUST00000190651
AA Change: T23S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140191 Gene: ENSMUSG00000090272 AA Change: T23S
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd11 |
T |
C |
8: 123,626,415 (GRCm39) |
I198V |
possibly damaging |
Het |
Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
Arpc2 |
T |
A |
1: 74,287,322 (GRCm39) |
N31K |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,866,990 (GRCm39) |
V139D |
possibly damaging |
Het |
Bicral |
T |
C |
17: 47,124,955 (GRCm39) |
K615E |
probably damaging |
Het |
Ccdc27 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
4: 154,120,763 (GRCm39) |
|
probably benign |
Het |
Chrnb1 |
T |
C |
11: 69,677,922 (GRCm39) |
M277V |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 15,960,464 (GRCm39) |
C3317Y |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
Degs2 |
T |
C |
12: 108,658,358 (GRCm39) |
K207R |
probably damaging |
Het |
Fam167a |
T |
C |
14: 63,689,769 (GRCm39) |
V22A |
probably benign |
Het |
Fam186a |
G |
A |
15: 99,831,566 (GRCm39) |
|
probably benign |
Het |
Gprc5b |
T |
C |
7: 118,583,749 (GRCm39) |
D40G |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
Inpp5j |
A |
G |
11: 3,451,134 (GRCm39) |
I505T |
probably damaging |
Het |
Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,848,346 (GRCm39) |
D632G |
probably damaging |
Het |
Mcidas |
A |
G |
13: 113,130,906 (GRCm39) |
D77G |
probably damaging |
Het |
Mdga1 |
A |
G |
17: 30,188,964 (GRCm39) |
V33A |
unknown |
Het |
Me3 |
A |
G |
7: 89,501,038 (GRCm39) |
D583G |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,240,436 (GRCm39) |
M780T |
possibly damaging |
Het |
Nat10 |
A |
G |
2: 103,570,158 (GRCm39) |
L395P |
probably damaging |
Het |
Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
Nbeal2 |
A |
T |
9: 110,465,743 (GRCm39) |
V876E |
probably benign |
Het |
Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
Or4a39 |
T |
C |
2: 89,236,935 (GRCm39) |
T163A |
probably benign |
Het |
Or51v8 |
T |
C |
7: 103,320,178 (GRCm39) |
Y20C |
possibly damaging |
Het |
Or8g50 |
A |
G |
9: 39,648,344 (GRCm39) |
T78A |
probably benign |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Pcsk4 |
C |
T |
10: 80,160,845 (GRCm39) |
R327Q |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,301,488 (GRCm39) |
F687L |
possibly damaging |
Het |
Rb1 |
A |
G |
14: 73,435,966 (GRCm39) |
|
probably null |
Het |
Tfpi2 |
C |
A |
6: 3,963,926 (GRCm39) |
V51L |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,924,925 (GRCm39) |
D1143G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,541,586 (GRCm39) |
M25473T |
probably benign |
Het |
Vmn1r201 |
A |
G |
13: 22,659,022 (GRCm39) |
I79V |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Wdr25 |
T |
A |
12: 108,993,257 (GRCm39) |
F491Y |
probably benign |
Het |
Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
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 |
|
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'- CTCAGGGTGTTGCCTATTACC -3'
(R):5'- TTCACTCACATGAGAATATCCTGTC -3'
Sequencing Primer
(F):5'- CAGGGTGTTGCCTATTACCTTTTGC -3'
(R):5'- TCCTGTCTTGAATATGTGTGAAAATG -3'
|
Posted On |
2015-06-10 |