Mutagenetix > Incidental Mutation

Incidental Mutation 'R6636:Tal1'

525444

Institutional Source

Beutler Lab

Gene Symbol

Tal1

Ensembl Gene

ENSMUSG00000028717

Gene Name

T cell acute lymphocytic leukemia 1

Synonyms

Hpt, SCL/tal-1, bHLHa17, Scl

MMRRC Submission

044757-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6636 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114913623-114928952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114925789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 286 (N286S)

Ref Sequence

ENSEMBL: ENSMUSP00000124983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030489] [ENSMUST00000161601] [ENSMUST00000162489]

AlphaFold

P22091

Predicted Effect

probably damaging
Transcript: ENSMUST00000030489
AA Change: N286S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030489
Gene: ENSMUSG00000028717
AA Change: N286S

Domain	Start	End	E-Value	Type
low complexity region	55	72	N/A	INTRINSIC
low complexity region	96	110	N/A	INTRINSIC
low complexity region	121	137	N/A	INTRINSIC
HLH	193	245	2.85e-19	SMART
low complexity region	263	272	N/A	INTRINSIC
low complexity region	317	328	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161601
AA Change: N286S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125202
Gene: ENSMUSG00000028717
AA Change: N286S

Domain	Start	End	E-Value	Type
low complexity region	55	72	N/A	INTRINSIC
low complexity region	96	110	N/A	INTRINSIC
low complexity region	121	137	N/A	INTRINSIC
HLH	193	245	2.85e-19	SMART
low complexity region	263	272	N/A	INTRINSIC
low complexity region	317	328	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162489
AA Change: N286S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124983
Gene: ENSMUSG00000028717
AA Change: N286S

Domain	Start	End	E-Value	Type
low complexity region	55	72	N/A	INTRINSIC
low complexity region	96	110	N/A	INTRINSIC
low complexity region	121	137	N/A	INTRINSIC
HLH	193	245	2.85e-19	SMART
low complexity region	263	272	N/A	INTRINSIC
low complexity region	317	328	N/A	INTRINSIC

Meta Mutation Damage Score

0.1145

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

Validation Efficiency

98% (41/42)

MGI Phenotype

PHENOTYPE: Homozygous targeted null mutants show retarded growth, edema, lack yolk sac hematopoiesis and die at embryonic day 9.5-10.5. Conditional mutants show loss of megakaryocyte and erhythrocyte progenitors resulting in low hematocrit and platelet count. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	G	15: 64,659,251 (GRCm39)	V513A	probably damaging	Het
Adgrl4	G	A	3: 151,223,410 (GRCm39)	W621*	probably null	Het
Ap4m1	A	G	5: 138,170,437 (GRCm39)		probably benign	Het
Atp6v1b2	T	C	8: 69,554,026 (GRCm39)	Y68H	probably damaging	Het
AY761185	T	A	8: 21,434,556 (GRCm39)		probably null	Het
C3ar1	T	C	6: 122,828,013 (GRCm39)	D68G	probably damaging	Het
Cdh10	A	T	15: 18,985,259 (GRCm39)	I308F	probably damaging	Het
Coq8a	A	T	1: 180,006,552 (GRCm39)	S112T	probably benign	Het
Dmgdh	A	T	13: 93,845,706 (GRCm39)	E453D	probably benign	Het
Fryl	C	A	5: 73,290,655 (GRCm39)	R83L	probably benign	Het
Gm4861	C	T	3: 137,256,760 (GRCm39)		probably null	Het
Gnai1	T	C	5: 18,478,472 (GRCm39)	D231G	probably damaging	Het
Hfe	C	G	13: 23,890,778 (GRCm39)	E120D	possibly damaging	Het
Hfe	T	C	13: 23,890,779 (GRCm39)	E120G	possibly damaging	Het
Hgd	A	G	16: 37,435,736 (GRCm39)	N149S	possibly damaging	Het
Kcnb1	T	C	2: 166,947,774 (GRCm39)	D358G	probably damaging	Het
Lama2	C	A	10: 27,000,564 (GRCm39)	V1653L	probably benign	Het
Lamc1	A	T	1: 153,117,721 (GRCm39)	I947N	possibly damaging	Het
Lamp3	A	G	16: 19,519,983 (GRCm39)	F67L	probably benign	Het
Ltbp2	T	C	12: 84,922,612 (GRCm39)	I132V	probably benign	Het
Muc4	C	T	16: 32,575,255 (GRCm39)	P1280L	probably benign	Het
Muc5ac	T	C	7: 141,372,342 (GRCm39)	Y2659H	possibly damaging	Het
Nmbr	T	C	10: 14,645,978 (GRCm39)	S168P	probably benign	Het
Nsl1	A	G	1: 190,807,324 (GRCm39)	T168A	probably benign	Het
Or2g7	G	A	17: 38,378,115 (GRCm39)	D18N	probably damaging	Het
Or4a27	T	C	2: 88,559,185 (GRCm39)	I253V	probably benign	Het
Or5b113	T	C	19: 13,342,589 (GRCm39)	V199A	probably benign	Het
Or8s5	A	G	15: 98,238,831 (GRCm39)	F13S	probably benign	Het
Pde1c	A	C	6: 56,157,087 (GRCm39)	V191G	probably damaging	Het
Proc	T	A	18: 32,256,813 (GRCm39)	I285F	probably benign	Het
R3hdm1	GAA	GAAA	1: 128,090,548 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Spa17	A	T	9: 37,523,270 (GRCm39)	S6T	probably benign	Het
Spp1	T	C	5: 104,588,396 (GRCm39)	V267A	possibly damaging	Het
Stk17b	A	T	1: 53,800,247 (GRCm39)	Y244N	probably damaging	Het
Tgm7	T	A	2: 120,931,571 (GRCm39)	R197S	probably damaging	Het
Tmcc3	T	A	10: 94,414,286 (GRCm39)	V27E	probably benign	Het
Topaz1	A	T	9: 122,578,851 (GRCm39)	Q587L	probably benign	Het
Trim33	C	T	3: 103,261,035 (GRCm39)	A1061V	probably damaging	Het
Ttll1	C	G	15: 83,384,147 (GRCm39)	W160S	probably damaging	Het
Utp25	A	T	1: 192,796,075 (GRCm39)	F197I	probably damaging	Het
Wnt7a	A	G	6: 91,371,540 (GRCm39)	Y141H	probably benign	Het

Other mutations in Tal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Tal1	APN	4	114,925,489 (GRCm39)	missense	probably benign	0.28
IGL01614:Tal1	APN	4	114,920,325 (GRCm39)	critical splice acceptor site	probably null
R0045:Tal1	UTSW	4	114,925,762 (GRCm39)	missense	probably damaging	1.00
R0755:Tal1	UTSW	4	114,925,573 (GRCm39)	missense	probably damaging	1.00
R1160:Tal1	UTSW	4	114,925,813 (GRCm39)	missense	probably damaging	1.00
R4581:Tal1	UTSW	4	114,921,919 (GRCm39)	missense	probably damaging	0.99
R5457:Tal1	UTSW	4	114,925,777 (GRCm39)	missense	probably benign	0.05
R6637:Tal1	UTSW	4	114,925,789 (GRCm39)	missense	probably damaging	0.99
R6844:Tal1	UTSW	4	114,920,464 (GRCm39)	missense	probably benign
R7188:Tal1	UTSW	4	114,925,610 (GRCm39)	missense	probably damaging	1.00
R7498:Tal1	UTSW	4	114,925,879 (GRCm39)	missense	possibly damaging	0.84
R7808:Tal1	UTSW	4	114,925,489 (GRCm39)	missense	probably benign	0.28
R8356:Tal1	UTSW	4	114,920,625 (GRCm39)	missense	probably benign	0.05
R8456:Tal1	UTSW	4	114,920,625 (GRCm39)	missense	probably benign	0.05
R9164:Tal1	UTSW	4	114,920,646 (GRCm39)	missense	probably benign
R9745:Tal1	UTSW	4	114,920,557 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCGCCTTGCCATGAAGTAC -3'
(R):5'- ACATAAGTCCATTGACCTGCTTC -3'

Sequencing Primer
(F):5'- GTACATCAATTTCCTGGCCAAG -3'
(R):5'- CAACCCAGGGGCCTAAAGG -3'

Posted On

2018-06-22