Mutagenetix > Incidental Mutation

Incidental Mutation 'R4771:Runx1'

367554

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92398354-92622962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92492629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 5 (V5L)

Ref Sequence

ENSEMBL: ENSMUSP00000131079 (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
AA Change: V5L

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109589
Gene: ENSMUSG00000022952
AA Change: V5L

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: V5L

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131079
Gene: ENSMUSG00000022952
AA Change: V5L

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,300 (GRCm39)	T148A	probably benign	Het
Abcc4	G	T	14: 118,721,796 (GRCm39)	N1234K	probably benign	Het
Adamts20	C	T	15: 94,249,516 (GRCm39)		probably null	Het
Aqp9	C	T	9: 71,030,152 (GRCm39)	G212S	probably damaging	Het
Asb15	A	T	6: 24,570,621 (GRCm39)	N533I	probably damaging	Het
Brwd1	A	G	16: 95,804,518 (GRCm39)	V1884A	probably benign	Het
Ccdc106	G	A	7: 5,060,521 (GRCm39)		probably null	Het
Cfap46	A	T	7: 139,210,524 (GRCm39)	L1774Q	probably null	Het
Cfap95	A	G	19: 23,536,337 (GRCm39)	L190P	probably damaging	Het
Cibar1	T	A	4: 12,155,689 (GRCm39)	Q311L	probably benign	Het
Clec2h	G	A	6: 128,651,118 (GRCm39)	E133K	probably damaging	Het
Cntn1	T	A	15: 92,202,972 (GRCm39)	F751L	possibly damaging	Het
Col20a1	A	T	2: 180,630,917 (GRCm39)	M62L	probably benign	Het
Col7a1	T	C	9: 108,800,993 (GRCm39)	V1899A	probably damaging	Het
Cpa5	T	A	6: 30,612,684 (GRCm39)	L28*	probably null	Het
Crb1	T	A	1: 139,255,942 (GRCm39)	E264D	probably damaging	Het
Creb3l2	A	T	6: 37,311,512 (GRCm39)	S426T	probably benign	Het
Cspg5	T	A	9: 110,080,195 (GRCm39)	N373K	probably damaging	Het
Ctso	T	C	3: 81,840,047 (GRCm39)	S26P	probably benign	Het
Depdc1b	A	C	13: 108,519,434 (GRCm39)	D348A	probably benign	Het
Diaph1	A	T	18: 37,986,604 (GRCm39)	M1127K	probably damaging	Het
Dlgap1	A	T	17: 70,900,375 (GRCm39)	K397*	probably null	Het
Dock3	T	A	9: 106,829,557 (GRCm39)	H1119L	possibly damaging	Het
Dok4	G	T	8: 95,591,795 (GRCm39)		probably null	Het
Dram2	A	G	3: 106,480,361 (GRCm39)	T225A	probably damaging	Het
Dst	G	A	1: 34,288,565 (GRCm39)	R5603H	probably damaging	Het
Ehbp1l1	A	G	19: 5,775,996 (GRCm39)	F18S	probably damaging	Het
Epha5	A	G	5: 84,298,278 (GRCm39)	V427A	probably damaging	Het
Exoc4	A	T	6: 33,418,884 (GRCm39)		probably null	Het
Exph5	C	T	9: 53,284,965 (GRCm39)	T682I	possibly damaging	Het
Fnbp1l	A	T	3: 122,351,752 (GRCm39)	S264T	possibly damaging	Het
Ggnbp2	A	T	11: 84,725,314 (GRCm39)	D580E	probably benign	Het
Gm10277	G	A	11: 77,676,534 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,756,126 (GRCm39)	V352E	probably damaging	Het
Gtf2a1l	C	A	17: 88,997,448 (GRCm39)	P93Q	probably benign	Het
Hydin	A	T	8: 111,259,515 (GRCm39)	I2496F	probably benign	Het
Ighv7-2	A	C	12: 113,876,087 (GRCm39)	I6S	probably benign	Het
Irs1	A	G	1: 82,265,696 (GRCm39)	V840A	probably benign	Het
Itgal	A	G	7: 126,927,405 (GRCm39)	E965G	probably damaging	Het
Izumo1	T	G	7: 45,272,233 (GRCm39)	F5V	probably benign	Het
Izumo1	T	A	7: 45,272,234 (GRCm39)	F5Y	probably damaging	Het
Kif13a	A	G	13: 46,978,687 (GRCm39)	S175P	probably damaging	Het
Klf14	A	G	6: 30,934,960 (GRCm39)	F225L	probably damaging	Het
Kpna1	T	C	16: 35,853,773 (GRCm39)	Y468H	probably damaging	Het
Krt5	T	A	15: 101,617,494 (GRCm39)	Q413L	probably damaging	Het
Lbr	T	C	1: 181,665,986 (GRCm39)	Y41C	probably damaging	Het
Lmcd1	A	T	6: 112,292,834 (GRCm39)	N229Y	probably damaging	Het
Marchf3	T	A	18: 56,916,170 (GRCm39)	H175L	probably benign	Het
Mcmbp	A	G	7: 128,300,124 (GRCm39)		probably null	Het
Med27	T	A	2: 29,303,515 (GRCm39)	L16Q	probably damaging	Het
Mex3b	A	T	7: 82,518,273 (GRCm39)	Q196L	possibly damaging	Het
Mga	T	C	2: 119,794,775 (GRCm39)	S2820P	probably damaging	Het
Mroh2a	C	T	1: 88,179,087 (GRCm39)	L1104F	probably damaging	Het
Mta3	A	G	17: 84,063,103 (GRCm39)	E166G	probably damaging	Het
Mthfd2l	A	G	5: 91,096,727 (GRCm39)	E116G	possibly damaging	Het
Musk	A	G	4: 58,301,706 (GRCm39)	I155V	probably benign	Het
Myh7b	G	A	2: 155,468,314 (GRCm39)	W834*	probably null	Het
Myo18b	T	A	5: 112,840,093 (GRCm39)	R2567*	probably null	Het
Nars2	A	T	7: 96,684,452 (GRCm39)	E325V	probably damaging	Het
Nploc4	A	G	11: 120,312,260 (GRCm39)	V106A	possibly damaging	Het
Nudcd1	A	T	15: 44,268,878 (GRCm39)	S167R	probably damaging	Het
Nup133	T	A	8: 124,656,137 (GRCm39)	D448V	probably damaging	Het
Or5al1	G	T	2: 85,990,417 (GRCm39)	T99N	probably benign	Het
Or5p70	A	T	7: 107,995,229 (GRCm39)	K301*	probably null	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdh8	C	T	14: 80,005,710 (GRCm39)	A893T	possibly damaging	Het
Per3	A	T	4: 151,093,716 (GRCm39)	V1033E	probably damaging	Het
Polr1e	T	C	4: 45,019,282 (GRCm39)	S44P	probably damaging	Het
Pou4f2	T	A	8: 79,161,865 (GRCm39)	H246L	possibly damaging	Het
Psmd2	G	A	16: 20,481,429 (GRCm39)	R828Q	probably damaging	Het
Ptprq	A	G	10: 107,524,288 (GRCm39)	S482P	probably benign	Het
Rbm14	G	T	19: 4,852,671 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,254,698 (GRCm39)	D557G	probably damaging	Het
Rhobtb2	A	G	14: 70,034,499 (GRCm39)	I242T	probably benign	Het
Shld2	G	A	14: 33,990,663 (GRCm39)	T81M	probably damaging	Het
Slc13a1	A	T	6: 24,100,339 (GRCm39)	Y381*	probably null	Het
Smyd3	A	T	1: 178,921,961 (GRCm39)	C180S	probably damaging	Het
Sntg2	T	A	12: 30,326,658 (GRCm39)		probably null	Het
Snx19	G	A	9: 30,344,934 (GRCm39)	V678I	probably damaging	Het
Spag5	G	A	11: 78,195,592 (GRCm39)	A300T	probably damaging	Het
Spdl1	T	A	11: 34,704,154 (GRCm39)	R560W	probably damaging	Het
Spen	T	C	4: 141,199,907 (GRCm39)	T2884A	probably benign	Het
Spg11	G	A	2: 121,895,963 (GRCm39)	Q1752*	probably null	Het
Srrm4	C	A	5: 116,613,234 (GRCm39)		probably null	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Sspo	A	G	6: 48,437,813 (GRCm39)	D1324G	probably damaging	Het
Tkt	T	G	14: 30,288,982 (GRCm39)	I238S	probably damaging	Het
Tmem184b	A	T	15: 79,261,377 (GRCm39)	N76K	probably benign	Het
Trpm6	A	G	19: 18,790,857 (GRCm39)	M631V	probably damaging	Het
Ttll6	A	C	11: 96,024,655 (GRCm39)	E15A	possibly damaging	Het
Ttn	T	C	2: 76,569,296 (GRCm39)	D27199G	probably damaging	Het
Ubn2	A	T	6: 38,464,088 (GRCm39)		probably null	Het
Ubr5	A	C	15: 38,018,541 (GRCm39)	I866M	possibly damaging	Het
Urb1	T	C	16: 90,550,406 (GRCm39)	T2149A	probably benign	Het
Ush2a	G	T	1: 188,529,966 (GRCm39)	V3252L	possibly damaging	Het
Usp24	A	G	4: 106,219,377 (GRCm39)		probably null	Het
Vill	T	A	9: 118,897,502 (GRCm39)	M259K	probably damaging	Het
Vldlr	T	C	19: 27,217,290 (GRCm39)	I411T	probably damaging	Het
Vmn2r120	A	T	17: 57,831,887 (GRCm39)	W301R	probably damaging	Het
Vps13b	G	A	15: 35,910,946 (GRCm39)	S3570N	probably damaging	Het
Vps13c	T	C	9: 67,836,821 (GRCm39)	V1773A	probably benign	Het
Vtn	A	G	11: 78,392,400 (GRCm39)	D326G	probably benign	Het
Wdr93	A	T	7: 79,426,511 (GRCm39)	H592L	probably damaging	Het
Zdhhc19	A	G	16: 32,317,953 (GRCm39)	D94G	probably damaging	Het
Zfand4	A	T	6: 116,291,311 (GRCm39)	E188V	probably damaging	Het
Zfp523	C	A	17: 28,420,312 (GRCm39)		probably null	Het
Zfp536	T	C	7: 37,268,309 (GRCm39)	D369G	probably damaging	Het
Zfp608	T	A	18: 55,121,372 (GRCm39)	T72S	probably benign	Het
Zfp804a	T	A	2: 82,088,286 (GRCm39)	V705E	probably benign	Het
Zfp974	T	C	7: 27,625,733 (GRCm39)	T46A	probably damaging	Het
Zkscan4	C	T	13: 21,663,416 (GRCm39)	Q52*	probably null	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
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'- GCAGGAGTACCTTGAAAGCG -3'
(R):5'- TGATGGTAATTTAGTCTCCTACCCC -3'

Sequencing Primer
(F):5'- TACCTTGAAAGCGATGGGC -3'
(R):5'- GTAATTTAGTCTCCTACCCCCACAAC -3'

Posted On

2015-12-29