Mutagenetix > Incidental Mutation

Incidental Mutation 'R6257:Runx1'

506431

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

044374-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6257 (G1)

Quality Score

98.0078

Status

Not validated

Chromosome

Chromosomal Location

92398354-92622962 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 92492799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023673] [ENSMUST00000113956] [ENSMUST00000168195] [ENSMUST00000186296] [ENSMUST00000187242]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023673

SMART Domains

Protein: ENSMUSP00000023673
Gene: ENSMUSG00000022952

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

SMART Domains

Protein: ENSMUSP00000131079
Gene: ENSMUSG00000022952

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186296

SMART Domains

Protein: ENSMUSP00000140419
Gene: ENSMUSG00000022952

Domain	Start	End	E-Value	Type
PDB:4L0Z\|A	20	68	2e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000187242

SMART Domains

Protein: ENSMUSP00000139819
Gene: ENSMUSG00000022952

Domain	Start	End	E-Value	Type
Pfam:Runt	1	62	2.6e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189126

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,272,074 (GRCm39)	N313K	probably benign	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Adamts6	A	T	13: 104,598,790 (GRCm39)	Q877L	probably benign	Het
Adgre4	C	T	17: 56,109,133 (GRCm39)	T380I	possibly damaging	Het
Aspm	A	G	1: 139,409,791 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,102 (GRCm39)		probably null	Het
Bcl6b	C	T	11: 70,116,878 (GRCm39)	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,258,580 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,641,364 (GRCm39)	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Ccser1	A	G	6: 61,350,946 (GRCm39)	D501G	probably damaging	Het
Ccser1	A	G	6: 62,356,769 (GRCm39)	T736A	probably benign	Het
Cd164l2	T	A	4: 132,948,345 (GRCm39)	C19S	unknown	Het
Cdk15	G	A	1: 59,296,264 (GRCm39)		probably null	Het
Cebpz	T	C	17: 79,243,261 (GRCm39)	E131G	probably benign	Het
Ces1d	T	C	8: 93,893,025 (GRCm39)	D519G	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Chd1	T	G	17: 15,950,465 (GRCm39)		probably null	Het
Chil4	T	A	3: 106,111,412 (GRCm39)	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,300,080 (GRCm39)	S173T	probably damaging	Het
Cpd	A	T	11: 76,703,496 (GRCm39)	F456I	probably benign	Het
Cst8	C	A	2: 148,647,365 (GRCm39)	A125E	probably damaging	Het
Dars2	G	T	1: 160,869,398 (GRCm39)	P617Q	probably damaging	Het
Defb26	A	G	2: 152,349,860 (GRCm39)	V140A	unknown	Het
Dntt	T	G	19: 41,041,501 (GRCm39)	V395G	probably damaging	Het
Dock10	G	A	1: 80,481,413 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,474,914 (GRCm39)	N1216S	possibly damaging	Het
En1	A	T	1: 120,531,636 (GRCm39)	D292V	unknown	Het
Erbb4	A	T	1: 68,435,432 (GRCm39)	L155Q	probably damaging	Het
Erbin	T	C	13: 103,998,796 (GRCm39)	T197A	probably benign	Het
Fat2	A	G	11: 55,153,407 (GRCm39)	F3602L	probably benign	Het
Fcsk	A	T	8: 111,617,177 (GRCm39)	C365S	probably benign	Het
Gm3443	A	T	19: 21,533,075 (GRCm39)	D13V	unknown	Het
Gm6401	T	C	14: 41,789,828 (GRCm39)	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,677,623 (GRCm39)	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H2-T24	T	A	17: 36,325,574 (GRCm39)	T305S	probably benign	Het
Ksr2	A	T	5: 117,552,909 (GRCm39)	M6L	probably benign	Het
Lama2	A	G	10: 26,862,895 (GRCm39)	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,951,557 (GRCm39)	T123A	probably benign	Het
Lrp1b	T	A	2: 40,486,981 (GRCm39)		probably null	Het
Ltn1	G	A	16: 87,208,662 (GRCm39)	A812V	possibly damaging	Het
Maml2	C	T	9: 13,531,722 (GRCm39)	S312L	probably damaging	Het
Myo7b	T	A	18: 32,146,468 (GRCm39)	N106Y	probably damaging	Het
Nacc2	A	T	2: 25,950,420 (GRCm39)	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,570,173 (GRCm39)	I224T	probably damaging	Het
Nf1	A	T	11: 79,440,317 (GRCm39)	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,784,349 (GRCm39)		probably null	Het
Nup155	C	T	15: 8,180,282 (GRCm39)	R1120*	probably null	Het
Oas3	C	A	5: 120,899,200 (GRCm39)		probably benign	Het
Ocln	T	C	13: 100,676,017 (GRCm39)	I159V	probably benign	Het
Or1p1c	T	C	11: 74,160,833 (GRCm39)	V206A	probably damaging	Het
Or2t45	T	A	11: 58,669,829 (GRCm39)	V292E	probably damaging	Het
Os9	A	C	10: 126,955,006 (GRCm39)	C181G	probably damaging	Het
Phldb1	C	T	9: 44,607,437 (GRCm39)	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,892,195 (GRCm39)	T208I	probably benign	Het
Plppr4	T	C	3: 117,116,228 (GRCm39)	Q485R	possibly damaging	Het
Prkcb	T	A	7: 122,167,386 (GRCm39)	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,639 (GRCm39)	N45K	probably damaging	Het
Rbl2	T	C	8: 91,842,306 (GRCm39)	L987P	probably damaging	Het
Septin4	C	A	11: 87,481,175 (GRCm39)	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Sri	T	A	5: 8,109,596 (GRCm39)		probably null	Het
St3gal3	C	T	4: 117,964,875 (GRCm39)		probably benign	Het
Tfpt	A	T	7: 3,632,566 (GRCm39)	L3*	probably null	Het
Tgfb3	T	C	12: 86,124,615 (GRCm39)	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,987 (GRCm39)	C678*	probably null	Het
Tmbim1	A	G	1: 74,332,225 (GRCm39)	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,462,297 (GRCm39)		probably benign	Het
Tmprss15	A	T	16: 78,769,113 (GRCm39)	V769E	probably damaging	Het
Trak1	C	T	9: 121,275,821 (GRCm39)	R175C	probably damaging	Het
Trak1	G	T	9: 121,196,290 (GRCm39)	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,039,375 (GRCm39)	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,699,835 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,732,099 (GRCm39)	C158*	probably null	Het
Vmn2r79	A	T	7: 86,651,778 (GRCm39)	L392F	probably benign	Het
Zfp536	T	A	7: 37,179,830 (GRCm39)	D925V	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
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

Posted On

2018-03-15