Incidental Mutation 'IGL02084:Runx2'
ID |
283478 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Runx2
|
Ensembl Gene |
ENSMUSG00000039153 |
Gene Name |
runt related transcription factor 2 |
Synonyms |
PEBP2aA, Cbfa1, Osf2, Pebpa2a, AML3, PEBP2 alpha A, SL3-3 enhancer factor 1, polyomavirus enhancer binding factor 2 (PEBP2) |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02084
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
44806873-45125518 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 45035716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 173
(A173T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124374
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113568]
[ENSMUST00000113571]
[ENSMUST00000113572]
[ENSMUST00000159943]
[ENSMUST00000160673]
[ENSMUST00000162816]
[ENSMUST00000162373]
[ENSMUST00000162629]
[ENSMUST00000162878]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113568
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113571
AA Change: A173T
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109201 Gene: ENSMUSG00000039153 AA Change: A173T
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
coiled coil region
|
45 |
89 |
N/A |
INTRINSIC |
Pfam:Runt
|
106 |
240 |
9.2e-83 |
PFAM |
Pfam:RunxI
|
434 |
528 |
7.6e-45 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113572
AA Change: A159T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109202 Gene: ENSMUSG00000039153 AA Change: A159T
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
31 |
75 |
N/A |
INTRINSIC |
Pfam:Runt
|
92 |
226 |
3.6e-83 |
PFAM |
Pfam:RunxI
|
420 |
514 |
2.7e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159943
AA Change: A173T
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124918 Gene: ENSMUSG00000039153 AA Change: A173T
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
coiled coil region
|
45 |
89 |
N/A |
INTRINSIC |
Pfam:Runt
|
106 |
240 |
9.2e-83 |
PFAM |
Pfam:RunxI
|
434 |
528 |
7.6e-45 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000160199
AA Change: A35T
|
SMART Domains |
Protein: ENSMUSP00000125196 Gene: ENSMUSG00000039153 AA Change: A35T
Domain | Start | End | E-Value | Type |
Pfam:Runt
|
4 |
101 |
3.3e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160672
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160673
AA Change: A241T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000123743 Gene: ENSMUSG00000039153 AA Change: A241T
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
coiled coil region
|
113 |
157 |
N/A |
INTRINSIC |
Pfam:Runt
|
177 |
306 |
3.9e-75 |
PFAM |
Pfam:RunxI
|
505 |
596 |
3.2e-41 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162816
AA Change: A159T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125498 Gene: ENSMUSG00000039153 AA Change: A159T
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
31 |
75 |
N/A |
INTRINSIC |
Pfam:Runt
|
92 |
226 |
8e-83 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162373
AA Change: A159T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124494 Gene: ENSMUSG00000039153 AA Change: A159T
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
31 |
75 |
N/A |
INTRINSIC |
Pfam:Runt
|
92 |
226 |
3.3e-83 |
PFAM |
Pfam:RunxI
|
398 |
492 |
2.5e-45 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162629
AA Change: A173T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124374 Gene: ENSMUSG00000039153 AA Change: A173T
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
coiled coil region
|
45 |
89 |
N/A |
INTRINSIC |
Pfam:Runt
|
106 |
240 |
3.5e-83 |
PFAM |
Pfam:RunxI
|
412 |
506 |
2.7e-45 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162878
AA Change: A159T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123707 Gene: ENSMUSG00000039153 AA Change: A159T
Domain | Start | End | E-Value | Type |
Pfam:Med15
|
6 |
224 |
1.4e-6 |
PFAM |
Pfam:Runt
|
92 |
192 |
8.1e-54 |
PFAM |
Pfam:RunxI
|
327 |
420 |
5.8e-41 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162130
AA Change: A69T
|
SMART Domains |
Protein: ENSMUSP00000124199 Gene: ENSMUSG00000039153 AA Change: A69T
Domain | Start | End | E-Value | Type |
Pfam:Runt
|
6 |
135 |
8e-76 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the runt domain-containing family of transcription factors. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Sep 2015] PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, decreased body weight, abnormal hematopoiesis, and skeletal abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,021,423 (GRCm39) |
F1096L |
probably benign |
Het |
Abcd2 |
T |
A |
15: 91,062,530 (GRCm39) |
|
probably null |
Het |
Actr10 |
T |
C |
12: 71,001,423 (GRCm39) |
I210T |
probably damaging |
Het |
Apoa5 |
A |
T |
9: 46,181,950 (GRCm39) |
D342V |
probably damaging |
Het |
Bicra |
G |
A |
7: 15,721,663 (GRCm39) |
T618I |
probably benign |
Het |
Birc6 |
C |
A |
17: 74,915,277 (GRCm39) |
Q1642K |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,667,634 (GRCm39) |
Y331C |
probably damaging |
Het |
Clcn7 |
T |
A |
17: 25,376,899 (GRCm39) |
I624N |
probably benign |
Het |
Eddm3b |
A |
T |
14: 51,354,087 (GRCm39) |
H25L |
unknown |
Het |
Fam90a1a |
A |
G |
8: 22,449,313 (GRCm39) |
E19G |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Fbxo41 |
A |
T |
6: 85,457,747 (GRCm39) |
|
probably null |
Het |
Frem3 |
A |
G |
8: 81,339,072 (GRCm39) |
D455G |
possibly damaging |
Het |
Gart |
T |
C |
16: 91,418,488 (GRCm39) |
Q86R |
probably benign |
Het |
Gm45234 |
T |
C |
6: 124,724,658 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
C |
T |
11: 48,779,912 (GRCm39) |
D337N |
probably benign |
Het |
Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
Kcns3 |
C |
T |
12: 11,142,195 (GRCm39) |
R168Q |
probably damaging |
Het |
Klra17 |
T |
A |
6: 129,808,556 (GRCm39) |
N226Y |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,326,396 (GRCm39) |
N2915D |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,353,167 (GRCm39) |
D1504G |
probably damaging |
Het |
Mgat4d |
C |
T |
8: 84,095,610 (GRCm39) |
S295L |
possibly damaging |
Het |
Mslnl |
T |
C |
17: 25,965,125 (GRCm39) |
V497A |
probably benign |
Het |
Mtor |
T |
C |
4: 148,555,137 (GRCm39) |
S920P |
probably damaging |
Het |
Mynn |
C |
A |
3: 30,665,764 (GRCm39) |
H465Q |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,411,088 (GRCm39) |
E182G |
probably damaging |
Het |
Ncln |
T |
C |
10: 81,324,430 (GRCm39) |
I417V |
probably benign |
Het |
Nlrp4f |
A |
T |
13: 65,341,985 (GRCm39) |
C553* |
probably null |
Het |
Or5k14 |
G |
A |
16: 58,693,399 (GRCm39) |
T38I |
probably damaging |
Het |
Or8k37 |
T |
A |
2: 86,469,980 (GRCm39) |
Q24L |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,447,623 (GRCm39) |
I2257V |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,566,657 (GRCm39) |
S35T |
possibly damaging |
Het |
Qrfprl |
T |
C |
6: 65,358,594 (GRCm39) |
V106A |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,336,499 (GRCm39) |
V3291A |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,807,648 (GRCm39) |
Y833* |
probably null |
Het |
Setbp1 |
G |
A |
18: 78,900,625 (GRCm39) |
A1014V |
probably damaging |
Het |
Slc25a38 |
A |
G |
9: 119,949,512 (GRCm39) |
|
probably benign |
Het |
Stk4 |
A |
G |
2: 163,928,527 (GRCm39) |
T120A |
probably benign |
Het |
Taf3 |
A |
T |
2: 10,047,330 (GRCm39) |
V106D |
probably benign |
Het |
Uchl5 |
A |
G |
1: 143,677,912 (GRCm39) |
I139V |
possibly damaging |
Het |
Ung |
A |
G |
5: 114,268,637 (GRCm39) |
E25G |
probably benign |
Het |
Wrn |
A |
G |
8: 33,775,207 (GRCm39) |
V619A |
probably benign |
Het |
|
Other mutations in Runx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02020:Runx2
|
APN |
17 |
44,969,486 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02029:Runx2
|
APN |
17 |
44,969,574 (GRCm39) |
nonsense |
probably null |
|
R0040:Runx2
|
UTSW |
17 |
44,919,141 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0627:Runx2
|
UTSW |
17 |
44,969,392 (GRCm39) |
intron |
probably benign |
|
R0944:Runx2
|
UTSW |
17 |
44,919,123 (GRCm39) |
missense |
probably damaging |
0.99 |
R1514:Runx2
|
UTSW |
17 |
45,046,224 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2069:Runx2
|
UTSW |
17 |
45,046,229 (GRCm39) |
missense |
probably benign |
0.19 |
R3976:Runx2
|
UTSW |
17 |
44,920,966 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4686:Runx2
|
UTSW |
17 |
44,950,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R4911:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R5241:Runx2
|
UTSW |
17 |
44,950,664 (GRCm39) |
nonsense |
probably null |
|
R5526:Runx2
|
UTSW |
17 |
45,035,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R6566:Runx2
|
UTSW |
17 |
45,125,375 (GRCm39) |
critical splice donor site |
probably null |
|
R6874:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R6980:Runx2
|
UTSW |
17 |
45,046,203 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7008:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7009:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7057:Runx2
|
UTSW |
17 |
45,125,424 (GRCm39) |
missense |
probably null |
|
R7085:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7175:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7176:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7177:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7181:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7231:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7232:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7254:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7267:Runx2
|
UTSW |
17 |
45,125,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7835:Runx2
|
UTSW |
17 |
44,919,123 (GRCm39) |
missense |
probably damaging |
0.99 |
R7949:Runx2
|
UTSW |
17 |
45,046,442 (GRCm39) |
missense |
possibly damaging |
0.45 |
R8474:Runx2
|
UTSW |
17 |
44,919,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R8806:Runx2
|
UTSW |
17 |
44,950,570 (GRCm39) |
missense |
probably benign |
0.09 |
R8913:Runx2
|
UTSW |
17 |
44,919,169 (GRCm39) |
missense |
probably benign |
0.09 |
R9092:Runx2
|
UTSW |
17 |
45,046,443 (GRCm39) |
missense |
probably damaging |
0.97 |
R9158:Runx2
|
UTSW |
17 |
45,046,508 (GRCm39) |
missense |
probably benign |
0.33 |
R9250:Runx2
|
UTSW |
17 |
45,125,459 (GRCm39) |
missense |
probably benign |
0.00 |
R9615:Runx2
|
UTSW |
17 |
44,969,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |