Mutagenetix > Incidental Mutation

Incidental Mutation 'R5226:Tlx2'

472457

Institutional Source

Beutler Lab

Gene Symbol

Tlx2

Ensembl Gene

ENSMUSG00000068327

Gene Name

T cell leukemia, homeobox 2

Synonyms

Enx, NCX, Tlx1l1, Ncx1, Hox11L.1, Hox11l1

MMRRC Submission

042799-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R5226 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

83045306-83047206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83045911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 228 (G228D)

Ref Sequence

ENSEMBL: ENSMUSP00000087069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077502] [ENSMUST00000089641] [ENSMUST00000174674]

AlphaFold

Q61663

Predicted Effect

probably benign
Transcript: ENSMUST00000077502

SMART Domains

Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DEXDc	30	236	5.01e-4	SMART
low complexity region	268	280	N/A	INTRINSIC
low complexity region	288	301	N/A	INTRINSIC
HA2	441	530	4e-19	SMART
Pfam:OB_NTP_bind	555	674	2.2e-11	PFAM
low complexity region	695	708	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089641
AA Change: G228D

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087069
Gene: ENSMUSG00000068327
AA Change: G228D

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	25	61	N/A	INTRINSIC
low complexity region	82	116	N/A	INTRINSIC
HOX	157	219	1.66e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174674

SMART Domains

Protein: ENSMUSP00000133420
Gene: ENSMUSG00000068327

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	25	61	N/A	INTRINSIC
low complexity region	82	116	N/A	INTRINSIC
HOX	157	213	2.43e-16	SMART

Meta Mutation Damage Score

0.1695

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for two targeted null mutations exhibit megacolon with hyperinnervated enteric ganglia which undergo neuronal degeneration. Homozygotes for a third null mutation die in utero with defects in formation of the primitive streak and mesoderm. [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
2010315B03Rik	T	C	9: 124,056,706 (GRCm39)	K98E	possibly damaging	Het
4933414I15Rik	A	T	11: 50,833,416 (GRCm39)	M62K	unknown	Het
Akr1d1	T	A	6: 37,512,949 (GRCm39)		probably null	Het
Ankrd63	T	C	2: 118,533,736 (GRCm39)		probably benign	Het
Atad5	T	C	11: 79,985,888 (GRCm39)	V325A	probably damaging	Het
Atp13a5	G	T	16: 29,067,031 (GRCm39)	N1025K	probably damaging	Het
Atrnl1	G	T	19: 57,638,767 (GRCm39)	V302L	probably benign	Het
Bend7	C	A	2: 4,757,789 (GRCm39)	S277*	probably null	Het
Btnl7-ps	A	T	17: 34,752,261 (GRCm39)		noncoding transcript	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ctla2b	C	T	13: 61,044,146 (GRCm39)	W63*	probably null	Het
Cux1	T	C	5: 136,399,027 (GRCm39)	T170A	probably benign	Het
Cyp3a57	T	C	5: 145,302,507 (GRCm39)	V101A	probably benign	Het
Dao	A	T	5: 114,159,094 (GRCm39)	T267S	probably benign	Het
Dsp	A	G	13: 38,370,746 (GRCm39)	D883G	probably damaging	Het
Dynlt4	A	G	4: 116,985,290 (GRCm39)	T38A	possibly damaging	Het
Eif4g3	C	A	4: 137,824,105 (GRCm39)	P36T	possibly damaging	Het
Elf3	G	A	1: 135,184,977 (GRCm39)	L70F	probably benign	Het
Epb41l4a	C	T	18: 33,943,366 (GRCm39)	D510N	probably damaging	Het
Gcn1	T	C	5: 115,726,126 (GRCm39)	S594P	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr132	T	C	12: 112,815,768 (GRCm39)	T353A	probably benign	Het
Kntc1	A	G	5: 123,932,235 (GRCm39)	D1343G	probably benign	Het
L3mbtl4	T	A	17: 69,071,717 (GRCm39)		probably null	Het
Lrit2	A	G	14: 36,794,310 (GRCm39)	E458G	probably damaging	Het
Man1c1	A	T	4: 134,305,680 (GRCm39)	I348N	probably damaging	Het
Map4k2	A	G	19: 6,396,534 (GRCm39)		probably benign	Het
Nt5c2	A	C	19: 46,887,068 (GRCm39)	Y203D	probably damaging	Het
Oxgr1	A	G	14: 120,259,665 (GRCm39)	S181P	probably damaging	Het
Parn	A	G	16: 13,443,416 (GRCm39)	C400R	probably benign	Het
Pcdhgb7	T	C	18: 37,885,577 (GRCm39)	V249A	probably benign	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plcg2	A	T	8: 118,304,613 (GRCm39)	I273F	possibly damaging	Het
Plin1	A	G	7: 79,372,447 (GRCm39)	V64A	probably damaging	Het
Ppfia4	C	A	1: 134,232,024 (GRCm39)		probably null	Het
Prkg2	A	C	5: 99,124,321 (GRCm39)	D376E	possibly damaging	Het
Ptgir	T	A	7: 16,642,645 (GRCm39)	I82N	probably damaging	Het
Pum2	C	T	12: 8,763,458 (GRCm39)	P205L	possibly damaging	Het
Rab26	T	A	17: 24,753,107 (GRCm39)		probably benign	Het
Recql4	T	C	15: 76,594,329 (GRCm39)	E63G	probably benign	Het
Rora	T	A	9: 69,271,423 (GRCm39)		probably benign	Het
Rp1	A	C	1: 4,418,256 (GRCm39)	M952R	probably benign	Het
Rpap3	T	A	15: 97,601,104 (GRCm39)	R44S	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc12a2	C	A	18: 58,012,092 (GRCm39)	P72T	probably damaging	Het
Slc1a3	C	T	15: 8,671,709 (GRCm39)	V416M	probably damaging	Het
Slfn4	A	T	11: 83,078,375 (GRCm39)	M388L	possibly damaging	Het
Snrnp48	G	A	13: 38,389,093 (GRCm39)	A49T	probably benign	Het
Tmem132a	A	G	19: 10,844,508 (GRCm39)	V30A	possibly damaging	Het
Tnfrsf23	C	A	7: 143,239,522 (GRCm39)	L24F	possibly damaging	Het
Ubr2	A	T	17: 47,294,196 (GRCm39)	N312K	probably benign	Het
Vmn1r115	C	T	7: 20,578,169 (GRCm39)	V248I	probably damaging	Het
Vmn2r80	A	G	10: 79,029,874 (GRCm39)	T567A	probably benign	Het
Vps13c	A	G	9: 67,852,835 (GRCm39)	T2372A	probably benign	Het
Wnt10b	G	T	15: 98,674,495 (GRCm39)	H81N	probably damaging	Het
Zfp948	A	G	17: 21,808,505 (GRCm39)	T566A	probably benign	Het

Other mutations in Tlx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4604:Tlx2	UTSW	6	83,045,741 (GRCm39)	makesense	probably null
R4757:Tlx2	UTSW	6	83,046,900 (GRCm39)	missense	probably benign	0.01
R5670:Tlx2	UTSW	6	83,046,807 (GRCm39)	missense	possibly damaging	0.85
R9167:Tlx2	UTSW	6	83,046,042 (GRCm39)	nonsense	probably null
R9257:Tlx2	UTSW	6	83,047,035 (GRCm39)	missense	unknown
R9786:Tlx2	UTSW	6	83,046,274 (GRCm39)	critical splice acceptor site	probably null
Z1177:Tlx2	UTSW	6	83,046,203 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TGACCAAAGAGCCTCAGAGG -3'
(R):5'- CTTCTTGCGCCAGAAGTACCTG -3'

Sequencing Primer
(F):5'- ACTCTTCGCTGGCGGTAC -3'
(R):5'- AGAAGTACCTGGCCTCCG -3'

Posted On

2017-04-06