Mutagenetix > Incidental Mutation

Incidental Mutation 'R4059:Runx1'

314410

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

040970-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92398354-92622962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92441134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 225 (V225A)

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 benign
Transcript: ENSMUST00000023673
AA Change: V225A

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023673
Gene: ENSMUSG00000022952
AA Change: V225A

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 benign
Transcript: ENSMUST00000113956

SMART Domains

Protein: ENSMUSP00000109589
Gene: ENSMUSG00000022952

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 benign
Transcript: ENSMUST00000168195
AA Change: V211A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131079
Gene: ENSMUSG00000022952
AA Change: V211A

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

0.0759

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,821 (GRCm39)	V301A	probably benign	Het
Agbl3	T	C	6: 34,823,834 (GRCm39)	L833P	probably damaging	Het
Amph	T	C	13: 19,326,168 (GRCm39)	S633P	probably damaging	Het
Aspscr1	T	C	11: 120,577,505 (GRCm39)	V60A	probably benign	Het
Atp13a3	C	A	16: 30,173,064 (GRCm39)	C271F	possibly damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
BC051019	C	T	7: 109,317,202 (GRCm39)	W163*	probably null	Het
Capza1	T	C	3: 104,732,427 (GRCm39)	E245G	probably damaging	Het
Cd81	G	T	7: 142,619,030 (GRCm39)	C18F	probably damaging	Het
Cfap45	G	T	1: 172,366,056 (GRCm39)	R303L	probably benign	Het
Commd9	T	C	2: 101,725,499 (GRCm39)	V24A	possibly damaging	Het
Dennd4a	A	G	9: 64,819,174 (GRCm39)	N1742D	possibly damaging	Het
Dgat1	G	T	15: 76,388,371 (GRCm39)	A182D	possibly damaging	Het
Dlg4	T	C	11: 69,917,909 (GRCm39)	L64P	probably benign	Het
Dna2	A	G	10: 62,792,768 (GRCm39)	D261G	probably damaging	Het
Epb41l4b	C	T	4: 57,024,337 (GRCm39)		probably null	Het
Fam13c	T	C	10: 70,390,338 (GRCm39)	L533P	probably damaging	Het
Fjx1	T	C	2: 102,281,066 (GRCm39)	T290A	possibly damaging	Het
Hid1	C	T	11: 115,247,565 (GRCm39)	E278K	probably damaging	Het
Hsd3b7	T	C	7: 127,400,717 (GRCm39)	I57T	probably damaging	Het
Igfn1	A	G	1: 135,897,494 (GRCm39)	V1024A	probably benign	Het
Itgae	A	G	11: 73,002,960 (GRCm39)	K175E	probably benign	Het
Klhl32	T	C	4: 24,792,781 (GRCm39)	T14A	probably damaging	Het
Krt23	T	C	11: 99,376,614 (GRCm39)	T181A	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc36	A	G	8: 106,154,428 (GRCm39)	E33G	probably damaging	Het
Mettl13	G	T	1: 162,373,755 (GRCm39)	H165Q	probably damaging	Het
Mocos	G	A	18: 24,812,447 (GRCm39)	G447D	probably damaging	Het
Ngef	T	A	1: 87,413,953 (GRCm39)	K399N	probably damaging	Het
Ntrk1	A	G	3: 87,688,786 (GRCm39)	L589P	probably damaging	Het
Or4c104	C	T	2: 88,586,795 (GRCm39)	V75I	probably benign	Het
Pcdha2	A	G	18: 37,072,935 (GRCm39)	S189G	probably benign	Het
Peg10	T	G	6: 4,756,427 (GRCm39)		probably benign	Het
Pkhd1l1	C	T	15: 44,414,156 (GRCm39)	H2808Y	probably benign	Het
Plekhg1	A	G	10: 3,907,087 (GRCm39)	D668G	probably damaging	Het
Ptcd2	A	G	13: 99,481,084 (GRCm39)	C32R	probably damaging	Het
Rgs8	A	G	1: 153,566,742 (GRCm39)	T98A	probably null	Het
Rhoh	G	A	5: 66,049,931 (GRCm39)	S67N	probably benign	Het
Rnd3	A	G	2: 51,038,760 (GRCm39)	F43L	probably damaging	Het
Runx1t1	T	C	4: 13,889,769 (GRCm39)	V566A	probably benign	Het
Sall2	A	G	14: 52,552,028 (GRCm39)	I387T	probably damaging	Het
Sec14l1	T	A	11: 117,040,024 (GRCm39)	V384D	possibly damaging	Het
Sh3rf3	T	C	10: 58,919,355 (GRCm39)	C491R	probably damaging	Het
Slc22a27	T	A	19: 7,856,973 (GRCm39)		probably benign	Het
Spire1	A	G	18: 67,678,783 (GRCm39)	S53P	probably damaging	Het
Tmco3	A	G	8: 13,370,848 (GRCm39)	R671G	probably benign	Het
Tmpo	A	G	10: 90,998,123 (GRCm39)	S555P	probably benign	Het
Tnip1	A	G	11: 54,802,395 (GRCm39)	S638P	probably benign	Het
Tspan8	C	T	10: 115,671,187 (GRCm39)	R115*	probably null	Het
Txnrd1	A	G	10: 82,721,114 (GRCm39)	E510G	probably benign	Het
Ucp3	T	C	7: 100,131,871 (GRCm39)	Y241H	probably damaging	Het
Vmn2r96	A	G	17: 18,818,339 (GRCm39)	I831V	probably benign	Het
Zan	T	C	5: 137,435,082 (GRCm39)	I2104V	unknown	Het
Zfp619	A	C	7: 39,184,823 (GRCm39)	R284S	probably benign	Het
Zfp715	T	C	7: 42,951,155 (GRCm39)	M48V	probably benign	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
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
R9239:Runx1	UTSW	16	92,402,935 (GRCm39)	missense	probably damaging	1.00
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'- TTAGAGCACCCAGAAAGGC -3'
(R):5'- GGGCAATGTCCAACAAGCTC -3'

Sequencing Primer
(F):5'- CAGAAAGGCCTGGCAGC -3'
(R):5'- GGGAAAGATAAGAAAAGTCCCCTCC -3'

Posted On

2015-04-30