Mutagenetix > Incidental Mutation

Incidental Mutation 'R5670:Tlx2'

442573

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

043313-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R5670 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

83045306-83047206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83046807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 85 (A85V)

Ref Sequence

ENSEMBL: ENSMUSP00000133420 (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: A85V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087069
Gene: ENSMUSG00000068327
AA Change: A85V

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

possibly damaging
Transcript: ENSMUST00000174674
AA Change: A85V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133420
Gene: ENSMUSG00000068327
AA Change: A85V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193381

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Ahsg	T	A	16: 22,716,913 (GRCm39)	N158K	probably benign	Het
Arhgef10	T	C	8: 15,004,774 (GRCm39)	M430T	probably benign	Het
Becn2	C	T	1: 175,749,179 (GRCm39)	T415M	probably damaging	Het
Bmper	T	A	9: 23,384,759 (GRCm39)	M588K	probably damaging	Het
Btla	A	T	16: 45,070,782 (GRCm39)	D247V	probably damaging	Het
Cap2	T	A	13: 46,684,559 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Col4a4	A	G	1: 82,463,300 (GRCm39)		probably null	Het
Copg1	C	T	6: 87,889,217 (GRCm39)	T853M	probably damaging	Het
Ddb2	C	T	2: 91,042,926 (GRCm39)	V353M	probably damaging	Het
Dip2b	A	G	15: 100,087,985 (GRCm39)	D973G	possibly damaging	Het
Dscam	G	A	16: 96,519,364 (GRCm39)	T791I	probably benign	Het
Dtd2	T	A	12: 52,046,643 (GRCm39)	L65F	probably damaging	Het
Fer1l6	C	T	15: 58,494,331 (GRCm39)	P1175S	probably benign	Het
Fzd6	A	T	15: 38,894,510 (GRCm39)	R225S	probably benign	Het
Glce	A	G	9: 61,967,793 (GRCm39)	S453P	probably damaging	Het
Gm4787	G	A	12: 81,424,805 (GRCm39)	T451I	probably benign	Het
Igkv8-18	C	T	6: 70,333,133 (GRCm39)	T25I	probably benign	Het
Ikzf2	A	G	1: 69,617,059 (GRCm39)	V96A	probably benign	Het
Ilkap	T	C	1: 91,318,863 (GRCm39)	T38A	probably benign	Het
Lpin3	A	G	2: 160,739,250 (GRCm39)	T353A	probably benign	Het
Mfsd8	A	T	3: 40,776,484 (GRCm39)	N389K	probably benign	Het
Mttp	A	T	3: 137,830,874 (GRCm39)	V65D	probably damaging	Het
Ndufaf4	A	T	4: 24,898,636 (GRCm39)	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,507,462 (GRCm39)	T213A	probably benign	Het
Nkain4	A	G	2: 180,584,995 (GRCm39)	L73P	probably damaging	Het
Nwd1	T	A	8: 73,419,745 (GRCm39)	S977T	probably damaging	Het
Or1l4	T	A	2: 37,092,006 (GRCm39)	V251D	probably benign	Het
Or2y1d	T	G	11: 49,322,035 (GRCm39)	L244R	probably damaging	Het
Or4b12	T	C	2: 90,096,308 (GRCm39)	I155M	probably benign	Het
Or5k1	G	A	16: 58,617,424 (GRCm39)	P262S	possibly damaging	Het
Pdgfra	T	C	5: 75,334,156 (GRCm39)	S410P	probably benign	Het
Phldb1	T	C	9: 44,627,078 (GRCm39)	M456V	probably damaging	Het
Pi16	C	T	17: 29,545,870 (GRCm39)	T216I	probably damaging	Het
Plekha2	C	A	8: 25,549,254 (GRCm39)	A177S	probably benign	Het
Pramel29	A	G	4: 143,936,192 (GRCm39)	S23P	probably benign	Het
Prss16	C	T	13: 22,187,221 (GRCm39)	V450I	possibly damaging	Het
Rab3gap2	T	A	1: 185,009,402 (GRCm39)	L1086H	probably damaging	Het
Rab3gap2	C	T	1: 184,954,096 (GRCm39)	P56L	probably benign	Het
Rgs21	A	G	1: 144,412,680 (GRCm39)	V48A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	A	G	11: 119,325,512 (GRCm39)		probably null	Het
Slc4a2	G	T	5: 24,639,836 (GRCm39)	V506L	probably damaging	Het
Sptbn5	C	G	2: 119,916,048 (GRCm39)		probably benign	Het
Steap2	C	T	5: 5,723,681 (GRCm39)	V400I	probably benign	Het
Syne2	G	A	12: 75,997,733 (GRCm39)	G2236D	probably benign	Het
Tespa1	T	C	10: 130,190,624 (GRCm39)	S84P	probably damaging	Het
Tm4sf1	A	T	3: 57,200,508 (GRCm39)	F65I	probably benign	Het
Tmprss13	A	G	9: 45,256,253 (GRCm39)	I456V	probably damaging	Het
Tpte	C	T	8: 22,817,764 (GRCm39)	S250F	probably damaging	Het
Trim24	T	C	6: 37,942,536 (GRCm39)	F946S	probably benign	Het
Vmn2r10	A	T	5: 109,146,910 (GRCm39)	Y459*	probably null	Het
Vps54	T	A	11: 21,214,864 (GRCm39)	I112N	probably damaging	Het
Vwa1	A	G	4: 155,858,922 (GRCm39)	L13P	probably damaging	Het
Zfp648	C	A	1: 154,079,963 (GRCm39)	Q41K	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
R5226:Tlx2	UTSW	6	83,045,911 (GRCm39)	missense	possibly damaging	0.52
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'- ATAACCGGGCAATGGGGTTG -3'
(R):5'- TCGGCATCGATCAGATCCTGAG -3'

Sequencing Primer
(F):5'- TCGCGGGGGAAGGACAC -3'
(R):5'- ATCAGATCCTGAGCGGTCC -3'

Posted On

2016-11-09