Incidental Mutation 'R2340:Midn'
| ID |
246711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Midn
|
| Ensembl Gene |
ENSMUSG00000035621 |
| Gene Name |
midnolin |
| Synonyms |
3000003C15Rik |
| MMRRC Submission |
040326-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2340 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79984106-79994202 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 79985946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 12
(R12L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003156]
[ENSMUST00000042057]
[ENSMUST00000099492]
[ENSMUST00000105366]
[ENSMUST00000105367]
[ENSMUST00000144526]
[ENSMUST00000151202]
[ENSMUST00000146516]
[ENSMUST00000153477]
|
| AlphaFold |
Q3TPJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003156
|
| SMART Domains |
Protein: ENSMUSP00000003156
Gene: ENSMUSG00000003072
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:ATP-synt_DE_N
|
38 |
119 |
2.2e-21 |
PFAM |
|
low complexity region
|
144 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042057
AA Change: R12L
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000046967
Gene: ENSMUSG00000035621
AA Change: R12L
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
32 |
102 |
3.39e-7 |
SMART |
|
low complexity region
|
130 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099492
AA Change: R12L
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097091
Gene: ENSMUSG00000035621
AA Change: R12L
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
32 |
102 |
3.39e-7 |
SMART |
|
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105366
|
| SMART Domains |
Protein: ENSMUSP00000101005
Gene: ENSMUSG00000003072
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:ATP-synt_DE_N
|
38 |
103 |
2.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105367
|
| SMART Domains |
Protein: ENSMUSP00000101006
Gene: ENSMUSG00000003072
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:ATP-synt_DE_N
|
38 |
119 |
2.2e-21 |
PFAM |
|
low complexity region
|
144 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144526
|
| SMART Domains |
Protein: ENSMUSP00000120988
Gene: ENSMUSG00000035621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151202
AA Change: R12L
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115717
Gene: ENSMUSG00000035621
AA Change: R12L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
32 |
67 |
4e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146516
|
| SMART Domains |
Protein: ENSMUSP00000119962
Gene: ENSMUSG00000035621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153477
|
| SMART Domains |
Protein: ENSMUSP00000119787
Gene: ENSMUSG00000035621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that contains an ubiquitin-like domain. This protein may be involved in the regulation of brain development as inferred by its high expression level in the embryonic midbrain. This protein has been found to negatively regulate glucokinase activity and insulin secretion in pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate and small ovary. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,349,165 (GRCm39) |
I3580F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,668,905 (GRCm39) |
K280E |
probably benign |
Het |
| Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,358 (GRCm39) |
V406A |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,490,741 (GRCm39) |
K114E |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,400,945 (GRCm39) |
D149E |
probably damaging |
Het |
| Entrep2 |
A |
G |
7: 64,425,565 (GRCm39) |
S176P |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,160,922 (GRCm39) |
D3269E |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,187 (GRCm39) |
D69G |
probably damaging |
Het |
| Hacd1 |
G |
T |
2: 14,040,698 (GRCm39) |
P186T |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,027,038 (GRCm39) |
V320A |
probably damaging |
Het |
| Lypd2 |
T |
A |
15: 74,606,103 (GRCm39) |
I12L |
probably benign |
Het |
| Or2b6 |
T |
C |
13: 21,822,757 (GRCm39) |
K312R |
probably benign |
Het |
| Or8g34 |
A |
G |
9: 39,373,105 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or9q2 |
A |
G |
19: 13,772,135 (GRCm39) |
V280A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,271,079 (GRCm39) |
V3158E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rad51d |
T |
C |
11: 82,772,647 (GRCm39) |
D206G |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,194,240 (GRCm39) |
F58L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,422,205 (GRCm39) |
I96T |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,066,089 (GRCm39) |
F500I |
probably damaging |
Het |
| Rph3al |
T |
C |
11: 75,724,258 (GRCm39) |
T282A |
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,951,002 (GRCm39) |
R240G |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,033,122 (GRCm39) |
I400N |
probably benign |
Het |
| Slco1a4 |
C |
A |
6: 141,787,103 (GRCm39) |
C28F |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,184,174 (GRCm39) |
I134N |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,747 (GRCm39) |
M253K |
probably damaging |
Het |
| Tmem184b |
T |
A |
15: 79,262,732 (GRCm39) |
M42L |
probably benign |
Het |
| Tnnt1 |
G |
A |
7: 4,516,615 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,938,922 (GRCm39) |
S407T |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,973,390 (GRCm39) |
E1117G |
probably damaging |
Het |
| Zfp606 |
A |
G |
7: 12,227,016 (GRCm39) |
E321G |
possibly damaging |
Het |
|
| Other mutations in Midn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01586:Midn
|
APN |
10 |
79,992,477 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01969:Midn
|
APN |
10 |
79,991,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02824:Midn
|
APN |
10 |
79,989,486 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Dunkel
|
UTSW |
10 |
79,989,918 (GRCm39) |
missense |
probably damaging |
0.96 |
|
full_moon
|
UTSW |
10 |
79,985,946 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Midnight
|
UTSW |
10 |
79,990,291 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Sepia
|
UTSW |
10 |
79,987,238 (GRCm39) |
missense |
probably null |
0.26 |
|
R0684:Midn
|
UTSW |
10 |
79,992,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Midn
|
UTSW |
10 |
79,989,957 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1926:Midn
|
UTSW |
10 |
79,987,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Midn
|
UTSW |
10 |
79,990,983 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2016:Midn
|
UTSW |
10 |
79,985,949 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2483:Midn
|
UTSW |
10 |
79,986,144 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3622:Midn
|
UTSW |
10 |
79,986,144 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3624:Midn
|
UTSW |
10 |
79,986,144 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4296:Midn
|
UTSW |
10 |
79,987,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Midn
|
UTSW |
10 |
79,987,238 (GRCm39) |
missense |
probably null |
0.26 |
|
R4930:Midn
|
UTSW |
10 |
79,991,189 (GRCm39) |
missense |
probably benign |
|
|
R4977:Midn
|
UTSW |
10 |
79,986,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Midn
|
UTSW |
10 |
79,991,027 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6149:Midn
|
UTSW |
10 |
79,990,291 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6542:Midn
|
UTSW |
10 |
79,992,418 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6826:Midn
|
UTSW |
10 |
79,989,961 (GRCm39) |
nonsense |
probably null |
|
|
R7478:Midn
|
UTSW |
10 |
79,991,156 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8025:Midn
|
UTSW |
10 |
79,991,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8819:Midn
|
UTSW |
10 |
79,990,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8820:Midn
|
UTSW |
10 |
79,990,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Midn
|
UTSW |
10 |
79,985,939 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9040:Midn
|
UTSW |
10 |
79,989,918 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9228:Midn
|
UTSW |
10 |
79,990,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9399:Midn
|
UTSW |
10 |
79,992,210 (GRCm39) |
nonsense |
probably null |
|
|
R9784:Midn
|
UTSW |
10 |
79,992,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Midn
|
UTSW |
10 |
79,989,831 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Midn
|
UTSW |
10 |
79,989,462 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Midn
|
UTSW |
10 |
79,986,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGCCGGCTCAATTCCTAAC -3'
(R):5'- CGTGTCTTTGTGAAGCAGCG -3'
Sequencing Primer
(F):5'- GGCTCAATTCCTAACGTTGGGAC -3'
(R):5'- TTTGTGAAGCAGCGCCAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation