Mutagenetix > Incidental Mutation

Incidental Mutation 'R2980:Tox4'

257062

Institutional Source

Beutler Lab

Gene Symbol

Tox4

Ensembl Gene

ENSMUSG00000016831

Gene Name

TOX high mobility group box family member 4

Synonyms

5730589K01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52516603-52532966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52529983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 548 (S548P)

Ref Sequence

ENSEMBL: ENSMUSP00000022766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022766] [ENSMUST00000022767] [ENSMUST00000122962] [ENSMUST00000147768] [ENSMUST00000174351] [ENSMUST00000173896]

AlphaFold

Q8BU11

Predicted Effect

probably benign
Transcript: ENSMUST00000022766
AA Change: S548P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831
AA Change: S548P

Domain	Start	End	E-Value	Type
low complexity region	146	160	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
HMG	222	292	1.17e-18	SMART
low complexity region	307	339	N/A	INTRINSIC
low complexity region	435	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022767

SMART Domains

Protein: ENSMUSP00000022767
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
low complexity region	53	67	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	191	213	N/A	INTRINSIC
Pfam:MT-A70	389	550	9.9e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130550

Predicted Effect

probably benign
Transcript: ENSMUST00000147768

SMART Domains

Protein: ENSMUSP00000134577
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
low complexity region	53	67	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	191	213	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156611

Predicted Effect

probably benign
Transcript: ENSMUST00000174351

SMART Domains

Protein: ENSMUSP00000134732
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	140	162	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173656

SMART Domains

Protein: ENSMUSP00000133759
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
Pfam:MT-A70	1	60	8.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173896

SMART Domains

Protein: ENSMUSP00000133506
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
low complexity region	53	67	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174360

SMART Domains

Protein: ENSMUSP00000134578
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
Pfam:MT-A70	1	34	4.3e-10	PFAM
Pfam:MT-A70	30	74	1.4e-15	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,633,034 (GRCm39)	I236T	probably benign	Het
Alms1	T	C	6: 85,605,817 (GRCm39)	L2489P	probably damaging	Het
Astn1	G	T	1: 158,400,521 (GRCm39)		probably null	Het
BC051665	T	C	13: 60,932,209 (GRCm39)	T127A	probably damaging	Het
Blnk	T	C	19: 40,950,794 (GRCm39)	Y119C	probably damaging	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Ctdnep1	C	A	11: 69,879,497 (GRCm39)	A7D	probably damaging	Het
Ddx4	A	T	13: 112,748,619 (GRCm39)	D452E	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Jak1	T	C	4: 101,036,978 (GRCm39)	I221V	probably damaging	Het
Kremen1	G	GGGT	11: 5,151,794 (GRCm39)		probably benign	Het
Sox21	T	C	14: 118,472,962 (GRCm39)	E29G	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Zfy1	T	C	Y: 739,054 (GRCm39)	N51D	unknown	Het

Other mutations in Tox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Tox4	APN	14	52,523,202 (GRCm39)	missense	probably damaging	1.00
Gift	UTSW	14	52,524,213 (GRCm39)	missense	probably damaging	1.00
PIT4494001:Tox4	UTSW	14	52,529,260 (GRCm39)	missense	possibly damaging	0.71
R0517:Tox4	UTSW	14	52,530,085 (GRCm39)	missense	probably benign	0.01
R0801:Tox4	UTSW	14	52,517,335 (GRCm39)	missense	probably benign	0.28
R1640:Tox4	UTSW	14	52,530,000 (GRCm39)	missense	possibly damaging	0.53
R3899:Tox4	UTSW	14	52,517,299 (GRCm39)	missense	probably damaging	0.98
R4016:Tox4	UTSW	14	52,523,361 (GRCm39)	critical splice donor site	probably null
R4614:Tox4	UTSW	14	52,524,924 (GRCm39)	missense	probably damaging	0.99
R5764:Tox4	UTSW	14	52,523,277 (GRCm39)	missense	probably damaging	0.96
R5847:Tox4	UTSW	14	52,524,241 (GRCm39)	missense	probably damaging	0.99
R6669:Tox4	UTSW	14	52,524,213 (GRCm39)	missense	probably damaging	1.00
R6978:Tox4	UTSW	14	52,524,694 (GRCm39)	splice site	probably null
R7155:Tox4	UTSW	14	52,529,554 (GRCm39)	missense	probably benign
R7770:Tox4	UTSW	14	52,517,299 (GRCm39)	missense	probably damaging	1.00
R8806:Tox4	UTSW	14	52,524,318 (GRCm39)	missense	probably damaging	0.98
R9012:Tox4	UTSW	14	52,523,208 (GRCm39)	missense	probably benign	0.19
R9165:Tox4	UTSW	14	52,523,247 (GRCm39)	missense	possibly damaging	0.90
R9523:Tox4	UTSW	14	52,529,166 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCCTGAGACAATCTGTGAAATG -3'
(R):5'- CTGTTAAACTCACCTGCAGTGC -3'

Sequencing Primer
(F):5'- CCTGAGACAATCTGTGAAATGATCGC -3'
(R):5'- GTTAAACTCACCTGCAGTGCTTCAC -3'

Posted On

2015-01-11