Incidental Mutation 'R9239:Runx1'
| ID |
700653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Runx1
|
| Ensembl Gene |
ENSMUSG00000022952 |
| Gene Name |
runt related transcription factor 1 |
| Synonyms |
AML1, Pebp2a2, runt domain, alpha subunit 2, Cbfa2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
92398354-92622962 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92402935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 336
(Y336H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023673]
[ENSMUST00000113956]
[ENSMUST00000168195]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023673
AA Change: Y336H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023673
Gene: ENSMUSG00000022952
AA Change: Y336H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
55 |
N/A |
INTRINSIC |
|
Pfam:Runt
|
65 |
194 |
4.5e-75 |
PFAM |
|
low complexity region
|
205 |
220 |
N/A |
INTRINSIC |
|
PDB:1B8X|A
|
333 |
374 |
2e-7 |
PDB |
|
Pfam:RunxI
|
375 |
465 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113956
AA Change: Y258H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109589
Gene: ENSMUSG00000022952
AA Change: Y258H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
41 |
N/A |
INTRINSIC |
|
Pfam:Runt
|
48 |
182 |
3.1e-81 |
PFAM |
|
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
Pfam:RunxI
|
294 |
387 |
4.9e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168195
AA Change: Y322H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131079
Gene: ENSMUSG00000022952
AA Change: Y322H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
41 |
N/A |
INTRINSIC |
|
Pfam:Runt
|
48 |
182 |
4.7e-82 |
PFAM |
|
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
Pfam:RunxI
|
358 |
451 |
6.4e-43 |
PFAM |
|
| Meta Mutation Damage Score |
0.0771 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations affect hematopoiesis, and in some cases result in defective angiogenesis and intraventricular hemorrhage. Null homozygotes die by embryonic day 12.5; heterozygotes have reduced erythroid and myeloid progenitor numbers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
A |
G |
2: 164,646,608 (GRCm39) |
|
probably null |
Het |
| Aldh1l2 |
A |
G |
10: 83,342,496 (GRCm39) |
F438S |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,256,864 (GRCm39) |
N665I |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,734,812 (GRCm39) |
T59S |
probably benign |
Het |
| B3gnt8 |
ACCCC |
ACCC |
7: 25,327,676 (GRCm39) |
|
probably null |
Het |
| Cabs1 |
G |
A |
5: 88,127,385 (GRCm39) |
R12Q |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,425,830 (GRCm39) |
V845A |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,059,572 (GRCm39) |
E127G |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,750 (GRCm39) |
V941E |
probably damaging |
Het |
| Fbxo11 |
G |
T |
17: 88,316,522 (GRCm39) |
H284N |
|
Het |
| Fubp1 |
A |
G |
3: 151,923,486 (GRCm39) |
E98G |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,626,637 (GRCm39) |
I1358T |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,649,825 (GRCm39) |
N156S |
possibly damaging |
Het |
| Gm3739 |
T |
C |
14: 18,505,221 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Itgb4 |
T |
C |
11: 115,898,130 (GRCm39) |
V1644A |
probably damaging |
Het |
| Itpka |
A |
G |
2: 119,580,023 (GRCm39) |
D254G |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,197,020 (GRCm39) |
R6S |
probably benign |
Het |
| Klhl40 |
A |
T |
9: 121,607,637 (GRCm39) |
T266S |
probably benign |
Het |
| Lratd1 |
A |
G |
12: 14,200,185 (GRCm39) |
W181R |
probably damaging |
Het |
| Mmaa |
T |
C |
8: 79,995,856 (GRCm39) |
D289G |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,353,954 (GRCm39) |
D851V |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,346 (GRCm39) |
V269A |
probably benign |
Het |
| Or52n4 |
G |
T |
7: 104,293,746 (GRCm39) |
H278N |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,439,454 (GRCm39) |
T99A |
probably benign |
Het |
| Pcdh17 |
T |
G |
14: 84,770,649 (GRCm39) |
I1042M |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,774,765 (GRCm39) |
I106T |
probably benign |
Het |
| Ppcs |
C |
T |
4: 119,276,235 (GRCm39) |
V290M |
possibly damaging |
Het |
| Rnasel |
T |
A |
1: 153,630,097 (GRCm39) |
N204K |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Serpina3f |
A |
G |
12: 104,184,710 (GRCm39) |
R285G |
possibly damaging |
Het |
| Slc25a2 |
A |
T |
18: 37,771,169 (GRCm39) |
M120K |
possibly damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,250,344 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Spats2l |
A |
G |
1: 57,871,257 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,871 (GRCm39) |
V289E |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,606,015 (GRCm39) |
L431H |
probably damaging |
Het |
| Tectb |
CT |
C |
19: 55,181,094 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
G |
A |
1: 130,087,453 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,165,078 (GRCm39) |
Y594H |
possibly damaging |
Het |
| Trim33 |
T |
C |
3: 103,237,453 (GRCm39) |
F599L |
probably benign |
Het |
| Vcl |
A |
G |
14: 21,072,092 (GRCm39) |
D819G |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r1 |
G |
T |
3: 64,011,959 (GRCm39) |
V607L |
probably damaging |
Het |
|
| Other mutations in Runx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Funyon
|
UTSW |
16 |
92,402,544 (GRCm39) |
makesense |
probably null |
|
|
G1Funyon:Runx1
|
UTSW |
16 |
92,402,544 (GRCm39) |
makesense |
probably null |
|
|
PIT4382001:Runx1
|
UTSW |
16 |
92,410,648 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0055:Runx1
|
UTSW |
16 |
92,441,029 (GRCm39) |
splice site |
probably benign |
|
|
R0315:Runx1
|
UTSW |
16 |
92,402,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1353:Runx1
|
UTSW |
16 |
92,485,939 (GRCm39) |
nonsense |
probably null |
|
|
R4059:Runx1
|
UTSW |
16 |
92,441,134 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4771:Runx1
|
UTSW |
16 |
92,492,629 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4977:Runx1
|
UTSW |
16 |
92,441,235 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5631:Runx1
|
UTSW |
16 |
92,492,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6257:Runx1
|
UTSW |
16 |
92,492,799 (GRCm39) |
unclassified |
probably benign |
|
|
R6435:Runx1
|
UTSW |
16 |
92,441,183 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8301:Runx1
|
UTSW |
16 |
92,402,544 (GRCm39) |
makesense |
probably null |
|
|
R9298:Runx1
|
UTSW |
16 |
92,441,147 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9389:Runx1
|
UTSW |
16 |
92,410,568 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9404:Runx1
|
UTSW |
16 |
92,485,915 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1088:Runx1
|
UTSW |
16 |
92,402,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Runx1
|
UTSW |
16 |
92,485,989 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCGCCGTAGTATAGATG -3'
(R):5'- ACTCTTTGTGTCAGAGGCAC -3'
Sequencing Primer
(F):5'- GCGCCGTAGTATAGATGGTAGG -3'
(R):5'- CCTGGGCAATCCTGTGTGTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation