Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02120:Runx1t1'

280548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Runx1t1

Ensembl Gene

ENSMUSG00000006586

Gene Name

runt-related transcription factor 1; translocated to, 1 (cyclin D-related)

Synonyms

Cbfa2t1h, ETO, MTG8

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

IGL02120

Quality Score

Status

Chromosome

Chromosomal Location

13743436-13893649 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13846884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 223 (T223S)

Ref Sequence

ENSEMBL: ENSMUSP00000127109 (fasta)

Gene Model

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

AlphaFold

Q61909

Predicted Effect

probably benign
Transcript: ENSMUST00000006761
AA Change: T203S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586
AA Change: T203S

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

probably benign
Transcript: ENSMUST00000098256
AA Change: T196S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586
AA Change: T196S

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

probably benign
Transcript: ENSMUST00000098257
AA Change: T223S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586
AA Change: T223S

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

probably benign
Transcript: ENSMUST00000105566
AA Change: T223S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586
AA Change: T223S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150583

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	C	T	4: 144,418,411	R195H	probably benign	Het
Abcb11	T	C	2: 69,257,310	Y1037C	probably damaging	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Ankrd33b	T	C	15: 31,367,056	T113A	possibly damaging	Het
Aox3	T	A	1: 58,127,650	N177K	probably benign	Het
Arhgap29	T	A	3: 122,004,257	V532E	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Caskin1	G	T	17: 24,500,942	G401V	probably damaging	Het
Cemip	A	T	7: 83,951,563	M950K	probably damaging	Het
Chrd	T	C	16: 20,734,541	V211A	probably damaging	Het
Ckap2l	T	C	2: 129,285,622	N212S	possibly damaging	Het
Clip1	T	C	5: 123,647,883	D246G	probably damaging	Het
Dlst	T	C	12: 85,118,568	S82P	probably benign	Het
Dmxl1	T	A	18: 49,894,178	L2118M	possibly damaging	Het
Dnah7a	T	C	1: 53,495,717	K2795E	possibly damaging	Het
Enpp5	T	A	17: 44,080,845	M55K	probably benign	Het
Epdr1	A	T	13: 19,594,471	S50T	probably damaging	Het
Gm6169	G	T	13: 97,098,777		probably benign	Het
Gm7808	T	A	9: 19,928,017		probably benign	Het
Huwe1	T	A	X: 151,907,390	F2485I	possibly damaging	Het
Kcnb2	C	T	1: 15,709,861	T319M	probably damaging	Het
Lama1	G	A	17: 67,716,789	V60M	probably damaging	Het
Lingo3	A	T	10: 80,835,859	L79Q	probably damaging	Het
Magi2	T	A	5: 20,228,453		probably null	Het
Mob2	C	A	7: 142,010,298	V33L	possibly damaging	Het
Mus81	G	A	19: 5,485,633		probably benign	Het
Nup210l	G	A	3: 90,136,862	G490D	probably damaging	Het
Olfr702	A	C	7: 106,823,698	V276G	possibly damaging	Het
Pbp2	A	G	6: 135,309,818	V177A	probably damaging	Het
Pomt2	T	C	12: 87,111,552	D656G	probably benign	Het
Ppp2r1b	A	G	9: 50,861,769		probably benign	Het
Ptprq	T	C	10: 107,667,472	E775G	probably damaging	Het
Rad54l	T	C	4: 116,098,984	I549V	probably benign	Het
Ranbp10	T	C	8: 105,805,582	Y145C	probably damaging	Het
Stxbp6	G	T	12: 44,902,048		probably benign	Het
Syne2	A	G	12: 75,946,706	D2085G	probably damaging	Het
Szt2	C	T	4: 118,388,564	R1064Q	probably benign	Het
Taar3	A	G	10: 23,950,167	T204A	probably benign	Het
Tdpoz1	A	G	3: 93,670,443	S345P	probably damaging	Het
Tgm4	T	A	9: 123,046,529	I149N	probably damaging	Het
Tubal3	T	A	13: 3,930,675	I129N	probably damaging	Het
Vegfc	T	C	8: 54,181,401	F372L	possibly damaging	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vwf	C	A	6: 125,616,034	L786M	probably benign	Het

Other mutations in Runx1t1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Runx1t1	APN	4	13835663	missense	probably benign	0.07
IGL01600:Runx1t1	APN	4	13841871	missense	probably damaging	1.00
IGL02172:Runx1t1	APN	4	13859924	missense	probably benign	0.00
IGL02429:Runx1t1	APN	4	13865294	splice site	probably benign
IGL02730:Runx1t1	APN	4	13860019	missense	probably benign	0.01
IGL02870:Runx1t1	APN	4	13889867	missense	unknown
IGL02879:Runx1t1	APN	4	13889868	missense	unknown
IGL03369:Runx1t1	APN	4	13881107	missense	probably damaging	1.00
IGL03047:Runx1t1	UTSW	4	13865882	missense	probably damaging	1.00
R1832:Runx1t1	UTSW	4	13835628	splice site	probably benign
R1884:Runx1t1	UTSW	4	13835767	missense	probably benign	0.00
R2277:Runx1t1	UTSW	4	13771501	missense	probably benign	0.00
R4059:Runx1t1	UTSW	4	13889769	missense	probably benign	0.33
R4505:Runx1t1	UTSW	4	13889676	missense	probably damaging	1.00
R4585:Runx1t1	UTSW	4	13889864	missense	unknown
R4586:Runx1t1	UTSW	4	13889864	missense	unknown
R4758:Runx1t1	UTSW	4	13865907	missense	probably damaging	1.00
R4795:Runx1t1	UTSW	4	13837767	missense	probably damaging	0.99
R4796:Runx1t1	UTSW	4	13837767	missense	probably damaging	0.99
R4897:Runx1t1	UTSW	4	13771459	start codon destroyed	probably null	0.01
R4971:Runx1t1	UTSW	4	13837978	missense	probably damaging	1.00
R5009:Runx1t1	UTSW	4	13865231	missense	possibly damaging	0.80
R5091:Runx1t1	UTSW	4	13846830	nonsense	probably null
R5844:Runx1t1	UTSW	4	13881068	missense	probably damaging	1.00
R5968:Runx1t1	UTSW	4	13841890	splice site	probably null
R5993:Runx1t1	UTSW	4	13841863	missense	probably damaging	0.98
R5993:Runx1t1	UTSW	4	13875490	missense	probably benign	0.00
R6329:Runx1t1	UTSW	4	13785136	start codon destroyed	probably null	0.38
R6915:Runx1t1	UTSW	4	13865257	missense	probably damaging	0.99
R7283:Runx1t1	UTSW	4	13846935	missense	probably damaging	1.00
R8251:Runx1t1	UTSW	4	13846947	missense	possibly damaging	0.46
R9301:Runx1t1	UTSW	4	13875477	missense	possibly damaging	0.78
R9376:Runx1t1	UTSW	4	13865225	missense	possibly damaging	0.93
R9390:Runx1t1	UTSW	4	13865932	missense	probably benign	0.14
Z1088:Runx1t1	UTSW	4	13865892	missense	possibly damaging	0.52

Posted On

2015-04-16