Mutagenetix > Incidental Mutation

Incidental Mutation 'R9376:Runx1t1'

709608

Institutional Source

Beutler Lab

Gene Symbol

Runx1t1

Ensembl Gene

ENSMUSG00000006586

Gene Name

RUNX1 translocation partner 1

Synonyms

ETO, Cbfa2t1h, MTG8

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.837) question?

Stock #

R9376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13743436-13893649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13865225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 339 (E339G)

Ref Sequence

ENSEMBL: ENSMUSP00000095857 (fasta)

Gene Model

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

AlphaFold

Q61909

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006761
AA Change: E319G

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586
AA Change: E319G

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: E312G

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

SMART Domains

Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586
AA Change: E312G

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: E339G

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

SMART Domains

Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586
AA Change: E339G

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: E339G

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

SMART Domains

Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586
AA Change: E339G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,893,438 (GRCm39)	L1296H	probably damaging	Het
Abcb4	A	T	5: 9,008,988 (GRCm39)	D1215V	probably damaging	Het
Ache	A	C	5: 137,289,025 (GRCm39)	I244L	probably benign	Het
Ankrd13d	A	T	19: 4,332,250 (GRCm39)	V58D	probably damaging	Het
Ano3	A	G	2: 110,496,782 (GRCm39)	L789S	probably damaging	Het
Atp2a3	T	C	11: 72,863,290 (GRCm39)	V129A	probably damaging	Het
Cldn11	T	C	3: 31,217,410 (GRCm39)	S193P	possibly damaging	Het
Clpb	A	T	7: 101,360,625 (GRCm39)	R218S	probably benign	Het
Cntln	A	G	4: 84,875,258 (GRCm39)	S231G	probably benign	Het
Cntn4	T	C	6: 106,639,591 (GRCm39)	Y574H	probably damaging	Het
Col6a3	C	T	1: 90,709,523 (GRCm39)	R2498H	unknown	Het
Ctdnep1	T	C	11: 69,875,594 (GRCm39)	V108A	probably damaging	Het
Cyp2c67	A	T	19: 39,627,178 (GRCm39)	N217K	probably damaging	Het
Dao	T	A	5: 114,147,901 (GRCm39)	M1K	probably null	Het
Dchs1	A	G	7: 105,414,981 (GRCm39)		probably null	Het
Dennd4a	A	T	9: 64,819,974 (GRCm39)	I1809L	probably benign	Het
Dnah7a	T	A	1: 53,568,058 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,086,720 (GRCm39)		probably benign	Het
Erich1	A	G	8: 14,080,719 (GRCm39)	S267P	probably damaging	Het
Gm17732	G	T	18: 62,795,936 (GRCm39)	V41L	probably damaging	Het
Gpaa1	C	A	15: 76,218,826 (GRCm39)	T556K	possibly damaging	Het
Gpr65	T	A	12: 98,241,523 (GRCm39)	S59T	probably damaging	Het
Hydin	T	C	8: 111,124,695 (GRCm39)	V568A	possibly damaging	Het
Ifi205	T	C	1: 173,854,221 (GRCm39)	D144G	probably benign	Het
Itga1	T	C	13: 115,107,112 (GRCm39)	H993R	probably benign	Het
Itgax	T	C	7: 127,747,935 (GRCm39)	L1075P	possibly damaging	Het
Itpr1	T	A	6: 108,326,638 (GRCm39)	V120E	probably damaging	Het
Kdm3b	T	C	18: 34,970,718 (GRCm39)	S1762P	probably damaging	Het
Krt80	T	A	15: 101,247,978 (GRCm39)	T221S	unknown	Het
Lama2	T	C	10: 26,994,620 (GRCm39)	D1763G	probably benign	Het
Lrp5	T	C	19: 3,670,286 (GRCm39)	D606G	probably benign	Het
Map6d1	T	C	16: 20,059,933 (GRCm39)	D44G	probably benign	Het
Mtmr11	T	A	3: 96,072,372 (GRCm39)	I282K	probably benign	Het
Nalcn	G	A	14: 123,515,713 (GRCm39)	T1696M	possibly damaging	Het
Nup214	T	C	2: 31,924,244 (GRCm39)	V1591A	probably benign	Het
Oas1f	C	A	5: 120,986,243 (GRCm39)	Y65*	probably null	Het
Or1x6	T	A	11: 50,939,662 (GRCm39)	C243S	probably damaging	Het
Or2t43	T	A	11: 58,457,683 (GRCm39)	T163S	possibly damaging	Het
Or2t46	T	C	11: 58,472,636 (GRCm39)	V322A	probably benign	Het
Or51f1e	A	T	7: 102,746,971 (GRCm39)	T8S	probably benign	Het
Or5p58	A	T	7: 107,694,471 (GRCm39)	I102K	possibly damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pigyl	A	G	9: 22,069,324 (GRCm39)	I12V	probably benign	Het
Pno1	A	T	11: 17,158,791 (GRCm39)	D202E	probably benign	Het
Ppp5c	A	T	7: 16,743,849 (GRCm39)	M195K	probably damaging	Het
Prrc2a	A	T	17: 35,369,598 (GRCm39)	F1905Y	possibly damaging	Het
Ptpn11	C	A	5: 121,282,681 (GRCm39)	D435Y	probably damaging	Het
Rbm33	A	G	5: 28,544,164 (GRCm39)	Y140C	probably damaging	Het
Scube3	G	T	17: 28,383,670 (GRCm39)	K480N	possibly damaging	Het
Sephs1	T	A	2: 4,910,469 (GRCm39)	M313K	probably benign	Het
Tcaim	T	C	9: 122,655,995 (GRCm39)	W304R	probably damaging	Het
Terf2ip	C	T	8: 112,738,514 (GRCm39)	T134I	probably damaging	Het
Terf2ip	A	G	8: 112,744,528 (GRCm39)	T282A	probably benign	Het
Tnfrsf18	G	T	4: 156,112,448 (GRCm39)	A102S	probably benign	Het
Trim10	A	T	17: 37,184,168 (GRCm39)	I254F	probably benign	Het
Triqk	A	G	4: 12,962,987 (GRCm39)	T9A	probably benign	Het
Tshz2	G	A	2: 169,726,013 (GRCm39)	S203N	probably benign	Het
Zc3h13	G	A	14: 75,561,128 (GRCm39)	V573I	unknown	Het
Zfhx4	A	G	3: 5,306,833 (GRCm39)	K20E	probably damaging	Het
Zfhx4	A	G	3: 5,465,395 (GRCm39)	D1876G	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
R5009:Runx1t1	UTSW	4	13,865,231 (GRCm39)	missense	possibly damaging	0.80
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
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

2022-04-18