Mutagenetix > Incidental Mutation

Incidental Mutation 'R5009:Runx1t1'

390332

Institutional Source

Beutler Lab

Gene Symbol

Runx1t1

Ensembl Gene

ENSMUSG00000006586

Gene Name

RUNX1 translocation partner 1

Synonyms

ETO, Cbfa2t1h, MTG8

MMRRC Submission

042600-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.837) question?

Stock #

R5009 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13743436-13893649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13865231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 314 (I314T)

Ref Sequence

ENSEMBL: ENSMUSP00000095856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006761] [ENSMUST00000098256] [ENSMUST00000098257] [ENSMUST00000105566]

AlphaFold

Q61909

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006761
AA Change: I321T

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586
AA Change: I321T

Domain	Start	End	E-Value	Type
low complexity region	32	48	N/A	INTRINSIC
low complexity region	68	96	N/A	INTRINSIC
TAFH	102	192	1.12e-53	SMART
low complexity region	266	277	N/A	INTRINSIC
Pfam:NHR2	317	383	6.9e-42	PFAM
SCOP:d1gpua1	384	454	7e-3	SMART
PDB:2KYG\|C	417	447	2e-12	PDB
Pfam:zf-MYND	495	531	4e-10	PFAM
low complexity region	543	558	N/A	INTRINSIC
low complexity region	562	583	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098256
AA Change: I314T

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586
AA Change: I314T

Domain	Start	End	E-Value	Type
low complexity region	25	41	N/A	INTRINSIC
low complexity region	61	89	N/A	INTRINSIC
TAFH	95	185	1.12e-53	SMART
low complexity region	259	270	N/A	INTRINSIC
Pfam:NHR2	310	376	7.3e-42	PFAM
SCOP:d1gpua1	377	447	7e-3	SMART
PDB:2KYG\|C	410	440	2e-12	PDB
Pfam:zf-MYND	488	524	2.5e-10	PFAM
low complexity region	536	551	N/A	INTRINSIC
low complexity region	555	576	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098257
AA Change: I341T

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586
AA Change: I341T

Domain	Start	End	E-Value	Type
low complexity region	52	68	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
TAFH	122	212	1.12e-53	SMART
low complexity region	286	297	N/A	INTRINSIC
Pfam:NHR2	337	403	5.2e-43	PFAM
SCOP:d1gpua1	404	474	7e-3	SMART
PDB:2KYG\|C	437	467	2e-12	PDB
Pfam:zf-MYND	515	551	6.7e-10	PFAM
low complexity region	563	578	N/A	INTRINSIC
low complexity region	582	603	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105566
AA Change: I341T

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586
AA Change: I341T

Domain	Start	End	E-Value	Type
low complexity region	52	68	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
TAFH	122	212	1.12e-53	SMART
low complexity region	286	297	N/A	INTRINSIC
Pfam:NHR2	337	403	3.6e-42	PFAM
SCOP:d1gpua1	404	474	7e-3	SMART
PDB:2KYG\|C	437	467	2e-12	PDB
Pfam:zf-MYND	515	551	1.4e-10	PFAM
low complexity region	563	578	N/A	INTRINSIC
low complexity region	582	603	N/A	INTRINSIC

Meta Mutation Damage Score

0.2160

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (91/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous disruption of this gene results in increased perinatal lethality and surviving animals show severe growth retardation. The midgut is absent in 25% of mutant animals which could explain increased perinatal mortality. Surviving animals display thinned intestinal walls and dilated lumens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,487,426 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,282,932 (GRCm39)	Y5H	probably damaging	Het
Atosa	G	A	9: 74,916,171 (GRCm39)	E257K	probably damaging	Het
Atp7b	A	G	8: 22,517,714 (GRCm39)	S375P	possibly damaging	Het
BC106179	C	A	16: 23,043,192 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,776,787 (GRCm39)	N411K	probably benign	Het
Cacna1d	A	G	14: 29,801,289 (GRCm39)	V1386A	probably damaging	Het
Cuzd1	T	A	7: 130,913,252 (GRCm39)	Y455F	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dot1l	G	T	10: 80,607,030 (GRCm39)	R108L	probably benign	Het
Dysf	T	C	6: 84,128,968 (GRCm39)	S1413P	probably damaging	Het
Eea1	C	A	10: 95,846,883 (GRCm39)	R388S	probably benign	Het
Elavl1	C	T	8: 4,351,723 (GRCm39)	R131Q	probably benign	Het
Erich6b	A	G	14: 75,902,596 (GRCm39)	T138A	possibly damaging	Het
Esr1	C	T	10: 4,662,394 (GRCm39)	T4I	probably damaging	Het
Ets1	T	C	9: 32,644,295 (GRCm39)	S152P	possibly damaging	Het
Fcsk	C	T	8: 111,614,462 (GRCm39)	C609Y	probably damaging	Het
Flrt2	T	C	12: 95,746,547 (GRCm39)	V295A	probably damaging	Het
Gm13196	A	G	2: 4,705,149 (GRCm39)		noncoding transcript	Het
Gm5965	T	A	16: 88,575,312 (GRCm39)	Y162N	probably benign	Het
Gm7853	A	T	14: 35,811,466 (GRCm39)		noncoding transcript	Het
Gm8126	C	T	14: 43,119,065 (GRCm39)	A178V	probably benign	Het
Gpihbp1	A	T	15: 75,469,570 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,774,858 (GRCm39)	T180A	possibly damaging	Het
Gsdme	C	T	6: 50,222,992 (GRCm39)	V108M	possibly damaging	Het
Gtpbp4	T	C	13: 9,039,102 (GRCm39)	Y157C	probably benign	Het
Gvin3	A	G	7: 106,200,767 (GRCm39)		noncoding transcript	Het
Hivep1	T	A	13: 42,312,229 (GRCm39)	F1490I	probably benign	Het
Il17ra	T	C	6: 120,459,168 (GRCm39)	V773A	probably benign	Het
Kctd8	T	A	5: 69,268,076 (GRCm39)	T345S	probably benign	Het
Kdm3b	T	C	18: 34,957,763 (GRCm39)	S1243P	probably benign	Het
Klhdc1	T	C	12: 69,298,712 (GRCm39)	V99A	possibly damaging	Het
Lars1	T	G	18: 42,354,612 (GRCm39)	E778D	probably benign	Het
Map7	C	T	10: 20,137,664 (GRCm39)	R279*	probably null	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Mtbp	A	G	15: 55,466,583 (GRCm39)	D532G	probably benign	Het
Mylk	G	A	16: 34,719,877 (GRCm39)	V597I	probably benign	Het
Necab1	A	G	4: 14,947,503 (GRCm39)		probably benign	Het
Nisch	C	T	14: 30,909,186 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,013,531 (GRCm39)	D573G	probably benign	Het
Noct	C	A	3: 51,155,482 (GRCm39)	N83K	probably damaging	Het
Or10am5	A	G	7: 6,517,546 (GRCm39)	L294P	probably damaging	Het
Or1b1	C	T	2: 36,995,467 (GRCm39)	R65H	possibly damaging	Het
Or2a12	C	A	6: 42,904,367 (GRCm39)	D67E	probably damaging	Het
Or2ad1	T	C	13: 21,326,435 (GRCm39)	N264S	probably benign	Het
Or52n4b	A	G	7: 108,144,055 (GRCm39)	I106V	probably benign	Het
Or6b13	C	T	7: 139,781,751 (GRCm39)	A311T	probably benign	Het
Or6c201	T	C	10: 128,969,484 (GRCm39)	H51R	probably benign	Het
Osgepl1	T	A	1: 53,357,339 (GRCm39)	V167D	probably damaging	Het
Pabpc6	T	C	17: 9,887,489 (GRCm39)	E354G	probably damaging	Het
Pgghg	A	C	7: 140,523,303 (GRCm39)	D194A	probably benign	Het
Podnl1	A	T	8: 84,852,887 (GRCm39)	H19L	probably benign	Het
Pold1	G	T	7: 44,183,326 (GRCm39)	A977E	probably benign	Het
Poldip3	T	C	15: 83,017,395 (GRCm39)	T227A	probably damaging	Het
Prss43	A	G	9: 110,656,489 (GRCm39)	S59G	possibly damaging	Het
Ptpn14	T	A	1: 189,582,731 (GRCm39)	I526N	probably benign	Het
Ptprb	T	C	10: 116,184,032 (GRCm39)	S1615P	possibly damaging	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rab15	T	C	12: 76,847,341 (GRCm39)	E114G	probably damaging	Het
Rcvrn	A	G	11: 67,586,550 (GRCm39)	E103G	probably benign	Het
Repin1	T	A	6: 48,571,779 (GRCm39)		probably benign	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rtkn2	T	C	10: 67,877,239 (GRCm39)	V433A	probably benign	Het
Serpinb9c	A	C	13: 33,338,414 (GRCm39)	S190A	probably benign	Het
Shank2	C	A	7: 143,623,916 (GRCm39)	H300Q	probably benign	Het
Slc4a4	A	G	5: 89,297,157 (GRCm39)		probably null	Het
Slc5a8	T	C	10: 88,745,516 (GRCm39)	S375P	probably benign	Het
Spns3	C	A	11: 72,428,027 (GRCm39)	W251L	probably damaging	Het
Spta1	A	G	1: 174,067,789 (GRCm39)	N2072S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,016 (GRCm39)	V1351A	probably benign	Het
Sytl2	A	T	7: 90,030,523 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,568,435 (GRCm39)	D1374G	probably benign	Het
Tlr1	A	G	5: 65,083,567 (GRCm39)	S337P	probably damaging	Het
Trp63	A	T	16: 25,686,977 (GRCm39)	D303V	probably damaging	Het
Ttn	G	A	2: 76,683,250 (GRCm39)		probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Vmn2r77	T	G	7: 86,451,015 (GRCm39)	D300E	possibly damaging	Het
Zfp729a	A	T	13: 67,768,365 (GRCm39)	N621K	probably benign	Het

Other mutations in Runx1t1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Runx1t1	APN	4	13,835,663 (GRCm39)	missense	probably benign	0.07
IGL01600:Runx1t1	APN	4	13,841,871 (GRCm39)	missense	probably damaging	1.00
IGL02120:Runx1t1	APN	4	13,846,884 (GRCm39)	missense	probably benign
IGL02172:Runx1t1	APN	4	13,859,924 (GRCm39)	missense	probably benign	0.00
IGL02429:Runx1t1	APN	4	13,865,294 (GRCm39)	splice site	probably benign
IGL02730:Runx1t1	APN	4	13,860,019 (GRCm39)	missense	probably benign	0.01
IGL02870:Runx1t1	APN	4	13,889,867 (GRCm39)	missense	unknown
IGL02879:Runx1t1	APN	4	13,889,868 (GRCm39)	missense	unknown
IGL03369:Runx1t1	APN	4	13,881,107 (GRCm39)	missense	probably damaging	1.00
IGL03047:Runx1t1	UTSW	4	13,865,882 (GRCm39)	missense	probably damaging	1.00
R1832:Runx1t1	UTSW	4	13,835,628 (GRCm39)	splice site	probably benign
R1884:Runx1t1	UTSW	4	13,835,767 (GRCm39)	missense	probably benign	0.00
R2277:Runx1t1	UTSW	4	13,771,501 (GRCm39)	missense	probably benign	0.00
R4059:Runx1t1	UTSW	4	13,889,769 (GRCm39)	missense	probably benign	0.33
R4505:Runx1t1	UTSW	4	13,889,676 (GRCm39)	missense	probably damaging	1.00
R4585:Runx1t1	UTSW	4	13,889,864 (GRCm39)	missense	unknown
R4586:Runx1t1	UTSW	4	13,889,864 (GRCm39)	missense	unknown
R4758:Runx1t1	UTSW	4	13,865,907 (GRCm39)	missense	probably damaging	1.00
R4795:Runx1t1	UTSW	4	13,837,767 (GRCm39)	missense	probably damaging	0.99
R4796:Runx1t1	UTSW	4	13,837,767 (GRCm39)	missense	probably damaging	0.99
R4897:Runx1t1	UTSW	4	13,771,459 (GRCm39)	start codon destroyed	probably null	0.01
R4971:Runx1t1	UTSW	4	13,837,978 (GRCm39)	missense	probably damaging	1.00
R5091:Runx1t1	UTSW	4	13,846,830 (GRCm39)	nonsense	probably null
R5844:Runx1t1	UTSW	4	13,881,068 (GRCm39)	missense	probably damaging	1.00
R5968:Runx1t1	UTSW	4	13,841,890 (GRCm39)	splice site	probably null
R5993:Runx1t1	UTSW	4	13,875,490 (GRCm39)	missense	probably benign	0.00
R5993:Runx1t1	UTSW	4	13,841,863 (GRCm39)	missense	probably damaging	0.98
R6329:Runx1t1	UTSW	4	13,785,136 (GRCm39)	start codon destroyed	probably null	0.38
R6915:Runx1t1	UTSW	4	13,865,257 (GRCm39)	missense	probably damaging	0.99
R7283:Runx1t1	UTSW	4	13,846,935 (GRCm39)	missense	probably damaging	1.00
R8251:Runx1t1	UTSW	4	13,846,947 (GRCm39)	missense	possibly damaging	0.46
R9301:Runx1t1	UTSW	4	13,875,477 (GRCm39)	missense	possibly damaging	0.78
R9376:Runx1t1	UTSW	4	13,865,225 (GRCm39)	missense	possibly damaging	0.93
R9390:Runx1t1	UTSW	4	13,865,932 (GRCm39)	missense	probably benign	0.14
Z1088:Runx1t1	UTSW	4	13,865,892 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TGCTATGCAAATAACCAGCTCTC -3'
(R):5'- GTAAGACAGTGGCCTGCTGATC -3'

Sequencing Primer
(F):5'- TCTCAGCTGTGAAGGCACCTAC -3'
(R):5'- GCTGATCTGCCTTCTCCCAAG -3'

Posted On

2016-06-06