Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Runx1'

710511

Institutional Source

Beutler Lab

Gene Symbol

Runx1

Ensembl Gene

ENSMUSG00000022952

Gene Name

runt related transcription factor 1

Synonyms

AML1, Pebp2a2, Cbfa2, runt domain, alpha subunit 2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92601466-92826149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92613680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 283 (V283I)

Ref Sequence

ENSEMBL: ENSMUSP00000023673 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023673
AA Change: V283I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023673
Gene: ENSMUSG00000022952
AA Change: V283I

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
AA Change: V205I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109589
Gene: ENSMUSG00000022952
AA Change: V205I

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

possibly damaging
Transcript: ENSMUST00000168195
AA Change: V269I

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131079
Gene: ENSMUSG00000022952
AA Change: V269I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	Het

Other mutations in Runx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Funyon	UTSW	16	92605656	makesense	probably null
G1Funyon:Runx1	UTSW	16	92605656	makesense	probably null
PIT4382001:Runx1	UTSW	16	92613760	missense	probably damaging	0.97
R0055:Runx1	UTSW	16	92644141	splice site	probably benign
R0315:Runx1	UTSW	16	92605767	missense	probably damaging	0.99
R1353:Runx1	UTSW	16	92689051	nonsense	probably null
R4059:Runx1	UTSW	16	92644246	missense	probably benign	0.09
R4771:Runx1	UTSW	16	92695741	missense	possibly damaging	0.70
R4977:Runx1	UTSW	16	92644347	critical splice acceptor site	probably null
R5631:Runx1	UTSW	16	92695563	missense	possibly damaging	0.94
R6257:Runx1	UTSW	16	92695911	unclassified	probably benign
R6435:Runx1	UTSW	16	92644295	missense	possibly damaging	0.53
R8301:Runx1	UTSW	16	92605656	makesense	probably null
R9239:Runx1	UTSW	16	92606047	missense	probably damaging	1.00
R9298:Runx1	UTSW	16	92644259	missense	possibly damaging	0.71
R9404:Runx1	UTSW	16	92689027	missense	probably benign	0.04
Z1088:Runx1	UTSW	16	92605792	missense	probably damaging	1.00
Z1176:Runx1	UTSW	16	92689101	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CTGGTCCATTAGCCATGTCC -3'
(R):5'- AGTGAACAAGCTGTGTAAACAC -3'

Sequencing Primer
(F):5'- ATTAGCCATGTCCCGCCTTTC -3'
(R):5'- CCATGACCAACATCCTTG -3'

Posted On

2022-04-18