Incidental Mutation 'R9458:Mndal'
| ID |
714697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mndal
|
| Ensembl Gene |
ENSMUSG00000090272 |
| Gene Name |
myeloid nuclear differentiation antigen like |
| Synonyms |
Ifi212 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R9458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173684786-173708038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 173687749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 495
(F495S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111210]
[ENSMUST00000186442]
[ENSMUST00000188804]
[ENSMUST00000190071]
|
| AlphaFold |
D0QMC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111210
AA Change: F495S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: F495S
| 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: F442S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: F442S
| 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 damaging
Transcript: ENSMUST00000188804
AA Change: F495S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: F495S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
T |
C |
11: 70,127,731 (GRCm39) |
I64V |
possibly damaging |
Het |
| 4921539E11Rik |
T |
A |
4: 103,141,608 (GRCm39) |
I18L |
possibly damaging |
Het |
| Arcn1 |
A |
G |
9: 44,671,267 (GRCm39) |
S87P |
probably damaging |
Het |
| Bmp7 |
G |
A |
2: 172,721,268 (GRCm39) |
P269L |
possibly damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,856,709 (GRCm38) |
F467L |
|
Het |
| Clrn2 |
A |
T |
5: 45,617,513 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Col2a1 |
G |
A |
15: 97,876,242 (GRCm39) |
R1192C |
unknown |
Het |
| Col6a6 |
A |
G |
9: 105,586,361 (GRCm39) |
F1887L |
probably benign |
Het |
| Crocc2 |
G |
T |
1: 93,145,516 (GRCm39) |
A1466S |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,049,777 (GRCm39) |
N4313D |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,148,785 (GRCm39) |
E298G |
probably damaging |
Het |
| Eif2b4 |
C |
A |
5: 31,350,609 (GRCm39) |
|
probably benign |
Het |
| Emx1 |
T |
A |
6: 85,181,042 (GRCm39) |
V253D |
probably damaging |
Het |
| Enah |
A |
T |
1: 181,746,107 (GRCm39) |
S654R |
unknown |
Het |
| F2 |
A |
T |
2: 91,461,113 (GRCm39) |
N207K |
probably benign |
Het |
| Flcn |
G |
T |
11: 59,690,208 (GRCm39) |
D281E |
possibly damaging |
Het |
| Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,235,043 (GRCm39) |
N226S |
probably benign |
Het |
| Igfbp6 |
A |
G |
15: 102,057,634 (GRCm39) |
N205S |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,743,407 (GRCm39) |
L1655P |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,952,057 (GRCm39) |
K175E |
possibly damaging |
Het |
| Panx2 |
A |
C |
15: 88,952,058 (GRCm39) |
K175T |
probably damaging |
Het |
| Pde6a |
A |
T |
18: 61,387,477 (GRCm39) |
Y456F |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,738,995 (GRCm39) |
L22P |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,659,247 (GRCm39) |
I83T |
probably damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,296 (GRCm39) |
D52G |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,759,557 (GRCm39) |
S102P |
possibly damaging |
Het |
| Slc7a2 |
T |
G |
8: 41,352,330 (GRCm39) |
I131S |
probably damaging |
Het |
| Snupn |
A |
T |
9: 56,890,039 (GRCm39) |
I287F |
possibly damaging |
Het |
| Synj1 |
T |
G |
16: 90,766,200 (GRCm39) |
I573L |
probably benign |
Het |
| Tmcc2 |
T |
G |
1: 132,286,747 (GRCm39) |
D568A |
probably damaging |
Het |
| Tmf1 |
G |
T |
6: 97,153,382 (GRCm39) |
H230Q |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,246 (GRCm39) |
V810A |
possibly damaging |
Het |
| Vmn1r169 |
T |
C |
7: 23,276,628 (GRCm39) |
S7P |
possibly damaging |
Het |
| Vwce |
A |
G |
19: 10,631,688 (GRCm39) |
T550A |
possibly damaging |
Het |
| Zbtb12 |
T |
C |
17: 35,115,367 (GRCm39) |
V384A |
possibly damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,480,639 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
Z1177:Mndal
|
UTSW |
1 |
173,701,970 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAATCTATTTGCATGCCACTC -3'
(R):5'- CATGTTTCCTATGTCTATAACAGGC -3'
Sequencing Primer
(F):5'- GCATGCCACTCTAACTTCTTCATAC -3'
(R):5'- TGTCTATAACAGGCTTCATATTTTCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation