Mutagenetix > Incidental Mutation

Incidental Mutation 'R4837:Dusp13b'

374361

Institutional Source

Beutler Lab

Gene Symbol

Dusp13b

Ensembl Gene

ENSMUSG00000021768

Gene Name

dual specificity phosphatase 13B

Synonyms

TS-DSP6, TMDP, Dusp13, LMW-DSP6, LOC382853

MMRRC Submission

042452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21783463-21792947 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to A at 21793593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075040] [ENSMUST00000119866] [ENSMUST00000120956] [ENSMUST00000120984] [ENSMUST00000127851] [ENSMUST00000184571] [ENSMUST00000183943] [ENSMUST00000183893] [ENSMUST00000183698] [ENSMUST00000184703] [ENSMUST00000185042] [ENSMUST00000153071]

AlphaFold

Q9QYJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000075040

SMART Domains

Protein: ENSMUSP00000074553
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
DSPc	37	181	7.66e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119866

SMART Domains

Protein: ENSMUSP00000112552
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
DSPc	45	190	9.29e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120956

SMART Domains

Protein: ENSMUSP00000113305
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
DSPc	110	255	9.29e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120984

SMART Domains

Protein: ENSMUSP00000113985
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
DSPc	45	190	9.29e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127051

SMART Domains

Protein: ENSMUSP00000127910
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
DSPc	9	142	2.4e-24	SMART

Predicted Effect

silent
Transcript: ENSMUST00000127851

SMART Domains

Protein: ENSMUSP00000120977
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
SCOP:d1vhra_	20	133	9e-10	SMART
Blast:DSPc	37	129	5e-60	BLAST
PDB:2E0T\|A	39	129	1e-26	PDB
low complexity region	162	173	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141004

Predicted Effect

unknown
Transcript: ENSMUST00000184571
AA Change: S52C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142076

Predicted Effect

probably benign
Transcript: ENSMUST00000183943

SMART Domains

Protein: ENSMUSP00000139154
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
internal_repeat_1	19	71	6.78e-8	PROSPERO
DSPc	95	240	9.29e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183893

SMART Domains

Protein: ENSMUSP00000139061
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
low complexity region	50	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183698

SMART Domains

Protein: ENSMUSP00000139058
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
DSPc	68	213	9.29e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184703

SMART Domains

Protein: ENSMUSP00000138972
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
DSPc	45	190	9.29e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185042

Predicted Effect

probably benign
Transcript: ENSMUST00000153071

SMART Domains

Protein: ENSMUSP00000139140
Gene: ENSMUSG00000021768

Domain	Start	End	E-Value	Type
Pfam:DSPc	1	48	5.2e-14	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In humans, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,846,203 (GRCm39)	H618L	probably benign	Het
Adgrl3	A	G	5: 81,914,081 (GRCm39)	T1230A	probably benign	Het
Ahnak2	A	G	12: 112,749,359 (GRCm39)	S203P	probably benign	Het
Allc	A	G	12: 28,609,308 (GRCm39)	V244A	probably benign	Het
Ap3m1	G	A	14: 21,087,225 (GRCm39)	P157L	probably damaging	Het
Arhgef2	T	G	3: 88,540,250 (GRCm39)	I97S	probably damaging	Het
Btaf1	C	A	19: 36,944,185 (GRCm39)	T398K	probably benign	Het
Cabp1	T	C	5: 115,311,212 (GRCm39)	M158V	probably damaging	Het
Ccdc162	G	A	10: 41,549,863 (GRCm39)	P340L	probably benign	Het
Ccdc168	G	A	1: 44,100,594 (GRCm39)	T168I	possibly damaging	Het
Clip4	A	G	17: 72,141,217 (GRCm39)	K524E	probably damaging	Het
Cltc	A	G	11: 86,586,474 (GRCm39)	V189A	probably benign	Het
Cmc2	A	G	8: 117,620,879 (GRCm39)	F34S	probably damaging	Het
Ctcfl	G	T	2: 172,955,449 (GRCm39)	T271N	probably benign	Het
Cyp4f16	T	A	17: 32,761,738 (GRCm39)	F124I	possibly damaging	Het
Ddx41	C	A	13: 55,679,461 (GRCm39)	R479L	possibly damaging	Het
Dgcr6	C	A	16: 17,884,710 (GRCm39)	N87K	possibly damaging	Het
Dll1	A	G	17: 15,589,121 (GRCm39)	L518P	probably damaging	Het
Dnaja4	G	T	9: 54,617,928 (GRCm39)	M263I	probably benign	Het
Fam185a	T	A	5: 21,685,375 (GRCm39)	I357N	probably benign	Het
Fam186a	T	C	15: 99,838,678 (GRCm39)	Y2522C	unknown	Het
Fam222a	T	A	5: 114,732,458 (GRCm39)	C4*	probably null	Het
Filip1	T	C	9: 79,726,741 (GRCm39)	D626G	probably damaging	Het
Ghrhr	C	T	6: 55,365,172 (GRCm39)	R389C	probably damaging	Het
Gstm3	T	A	3: 107,871,531 (GRCm39)	T217S	probably benign	Het
Gucy2g	T	C	19: 55,214,485 (GRCm39)	T548A	probably benign	Het
Hectd3	T	A	4: 116,859,794 (GRCm39)	C744S	probably null	Het
Hnrnpl	T	C	7: 28,516,762 (GRCm39)	S184P	probably benign	Het
Il3	G	A	11: 54,158,083 (GRCm39)		probably benign	Het
Itga5	C	T	15: 103,262,511 (GRCm39)	G330S	probably damaging	Het
Kl	A	G	5: 150,904,312 (GRCm39)	T355A	possibly damaging	Het
Lipk	A	C	19: 34,009,720 (GRCm39)	S208R	probably damaging	Het
Mrs2	T	A	13: 25,183,040 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,674,887 (GRCm39)	E372G	probably damaging	Het
Myh4	C	A	11: 67,149,818 (GRCm39)	A1821D	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nlrp12	T	C	7: 3,279,693 (GRCm39)	E881G	probably damaging	Het
Nol9	T	C	4: 152,136,552 (GRCm39)		probably benign	Het
Nwd1	A	G	8: 73,383,759 (GRCm39)	E52G	probably damaging	Het
Opn4	A	G	14: 34,318,261 (GRCm39)	V242A	probably damaging	Het
Or4e1	A	T	14: 52,701,103 (GRCm39)	M121K	probably damaging	Het
Or4k44	T	A	2: 111,368,319 (GRCm39)	H105L	probably damaging	Het
Or5m13	A	G	2: 85,748,748 (GRCm39)	T160A	probably benign	Het
Or6b1	T	G	6: 42,814,783 (GRCm39)		probably null	Het
Or6b2b	A	G	1: 92,418,697 (GRCm39)	V260A	probably benign	Het
Paxbp1	G	A	16: 90,831,866 (GRCm39)	Q341*	probably null	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pcdhb18	G	A	18: 37,622,867 (GRCm39)	V66M	probably damaging	Het
Pikfyve	A	G	1: 65,285,749 (GRCm39)	E951G	possibly damaging	Het
Plcg1	A	G	2: 160,592,906 (GRCm39)	N179S	probably benign	Het
Prr11	A	C	11: 86,989,517 (GRCm39)	S285A	probably benign	Het
Ranbp17	A	G	11: 33,278,451 (GRCm39)	S139P	probably damaging	Het
Rasa4	G	A	5: 136,120,664 (GRCm39)		probably null	Het
Rnf213	G	C	11: 119,333,589 (GRCm39)	G2934R	probably benign	Het
Rpap1	A	G	2: 119,608,732 (GRCm39)	V210A	probably benign	Het
Rpn1	T	A	6: 88,067,187 (GRCm39)	N182K	probably benign	Het
Rps24	C	T	14: 24,541,855 (GRCm39)	T14I	possibly damaging	Het
Rrp12	C	T	19: 41,865,944 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,108,539 (GRCm39)		probably null	Het
Rufy1	A	G	11: 50,292,320 (GRCm39)	S490P	probably damaging	Het
Sec62	T	A	3: 30,864,018 (GRCm39)	M100K	unknown	Het
Spata16	A	G	3: 26,787,081 (GRCm39)	H253R	possibly damaging	Het
Srcap	T	C	7: 127,158,134 (GRCm39)		probably benign	Het
Srrm1	A	G	4: 135,072,823 (GRCm39)		probably benign	Het
Tbcd	G	A	11: 121,473,611 (GRCm39)		probably null	Het
Tedc2	C	A	17: 24,439,567 (GRCm39)	A25S	probably damaging	Het
Tnr	A	T	1: 159,512,358 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,936,981 (GRCm39)	D3730A	probably damaging	Het
Tor2a	G	A	2: 32,650,609 (GRCm39)	G201D	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Vmn1r211	G	T	13: 23,036,296 (GRCm39)	Q124K	probably benign	Het
Wasf3	T	C	5: 146,397,788 (GRCm39)	V185A	probably benign	Het
Zbtb12	A	G	17: 35,114,985 (GRCm39)	T257A	probably benign	Het

Other mutations in Dusp13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Dusp13b	APN	14	21,783,907 (GRCm39)	missense	probably damaging	1.00
IGL02963:Dusp13b	APN	14	21,783,875 (GRCm39)	missense	possibly damaging	0.86
R0827:Dusp13b	UTSW	14	21,792,839 (GRCm39)	missense	probably benign
R1185:Dusp13b	UTSW	14	21,785,086 (GRCm39)	missense	probably damaging	1.00
R1185:Dusp13b	UTSW	14	21,785,086 (GRCm39)	missense	probably damaging	1.00
R1185:Dusp13b	UTSW	14	21,785,086 (GRCm39)	missense	probably damaging	1.00
R1882:Dusp13b	UTSW	14	21,785,043 (GRCm39)	missense	probably benign	0.04
R2915:Dusp13b	UTSW	14	21,790,205 (GRCm39)	missense	probably damaging	1.00
R3954:Dusp13b	UTSW	14	21,790,175 (GRCm39)	missense	probably damaging	1.00
R4623:Dusp13b	UTSW	14	21,793,546 (GRCm39)	unclassified	probably benign
R6713:Dusp13b	UTSW	14	21,798,541 (GRCm39)	missense	probably damaging	1.00
R7294:Dusp13b	UTSW	14	21,783,782 (GRCm39)	missense	possibly damaging	0.47
R7782:Dusp13b	UTSW	14	21,791,404 (GRCm39)	missense	possibly damaging	0.86
R8088:Dusp13b	UTSW	14	21,791,305 (GRCm39)	missense	probably benign	0.33
R8176:Dusp13b	UTSW	14	21,797,549 (GRCm39)	missense	possibly damaging	0.81
R8227:Dusp13b	UTSW	14	21,792,869 (GRCm39)	missense	probably benign
R8520:Dusp13b	UTSW	14	21,793,538 (GRCm39)	nonsense	probably null
R8724:Dusp13b	UTSW	14	21,796,475 (GRCm39)	missense	probably benign	0.04
R8973:Dusp13b	UTSW	14	21,784,974 (GRCm39)	missense	probably benign	0.01
R9031:Dusp13b	UTSW	14	21,790,233 (GRCm39)	missense	probably benign	0.00
R9142:Dusp13b	UTSW	14	21,792,756 (GRCm39)	missense	probably benign	0.30
R9186:Dusp13b	UTSW	14	21,798,563 (GRCm39)	missense	probably damaging	0.97
R9258:Dusp13b	UTSW	14	21,791,155 (GRCm39)	missense	probably benign	0.44
R9630:Dusp13b	UTSW	14	21,784,974 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACCTCTGACCCATTTGGAGTC -3'
(R):5'- AGGATAGGTTTGGGCCTCAG -3'

Sequencing Primer
(F):5'- TTTGGAGTCCCCCAACCCAG -3'
(R):5'- CTCAGCCATGGGGTTGCTG -3'

Posted On

2016-03-01