Mutagenetix > Incidental Mutation

Incidental Mutation 'R4623:Dusp13b'

346361

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

041888-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21783463-21792947 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 21793546 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] [ENSMUST00000185042] [ENSMUST00000183698] [ENSMUST00000184703] [ENSMUST00000153071] [ENSMUST00000183893] [ENSMUST00000183943] [ENSMUST00000184571]

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

unknown
Transcript: ENSMUST00000127851
AA Change: L205R

SMART Domains

Protein: ENSMUSP00000120977
Gene: ENSMUSG00000021768
AA Change: L205R

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

probably benign
Transcript: ENSMUST00000185042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183824

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: ENSMUST00000153071

SMART Domains

Protein: ENSMUSP00000139140
Gene: ENSMUSG00000021768

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

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: 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: ENSMUST00000184571

Meta Mutation Damage Score

0.0722

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	T	C	12: 11,272,141 (GRCm39)		noncoding transcript	Het
A930003A15Rik	C	T	16: 19,702,487 (GRCm39)		noncoding transcript	Het
Abca13	A	G	11: 9,259,130 (GRCm39)	Y2952C	probably damaging	Het
Actrt2	T	C	4: 154,751,747 (GRCm39)	T130A	probably benign	Het
Adamts7	T	A	9: 90,068,515 (GRCm39)	D475E	probably benign	Het
Adgrf5	A	G	17: 43,761,874 (GRCm39)	S1190G	probably benign	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Aldoc	T	C	11: 78,215,947 (GRCm39)	V151A	probably damaging	Het
Arsj	A	T	3: 126,158,445 (GRCm39)	E8V	probably benign	Het
Asph	T	C	4: 9,622,005 (GRCm39)	K167E	possibly damaging	Het
Auts2	G	A	5: 131,469,221 (GRCm39)	P475S	probably benign	Het
C1d	A	G	11: 17,212,742 (GRCm39)	D29G	possibly damaging	Het
Calb1	T	A	4: 15,895,721 (GRCm39)		probably benign	Het
Ceacam15	A	T	7: 16,407,391 (GRCm39)	F42Y	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cts6	A	T	13: 61,349,974 (GRCm39)	Y36N	possibly damaging	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Cyp2a22	G	T	7: 26,632,916 (GRCm39)	P429T	probably damaging	Het
Dipk2a	T	C	9: 94,402,451 (GRCm39)	N404D	possibly damaging	Het
Dock3	T	C	9: 106,939,244 (GRCm39)	E168G	possibly damaging	Het
Dot1l	A	G	10: 80,617,984 (GRCm39)	N324S	probably benign	Het
Eif4g1	T	A	16: 20,500,095 (GRCm39)		probably benign	Het
Fan1	G	T	7: 64,023,301 (GRCm39)	Y121*	probably null	Het
Foxn4	T	C	5: 114,398,991 (GRCm39)	E80G	possibly damaging	Het
Gal3st2c	C	A	1: 93,937,178 (GRCm39)	H374Q	possibly damaging	Het
Gm973	A	T	1: 59,595,435 (GRCm39)	I409F	probably damaging	Het
Gpr18	T	A	14: 122,149,579 (GRCm39)	T149S	probably damaging	Het
Gsr	A	G	8: 34,170,333 (GRCm39)	E206G	probably damaging	Het
Hal	A	G	10: 93,343,301 (GRCm39)	H515R	probably damaging	Het
Heatr5b	A	G	17: 79,102,548 (GRCm39)	S1277P	possibly damaging	Het
Hmcn2	A	G	2: 31,286,722 (GRCm39)	E2125G	probably damaging	Het
Ikzf4	A	G	10: 128,476,988 (GRCm39)	C108R	probably damaging	Het
Kcnh2	A	G	5: 24,553,440 (GRCm39)	V59A	probably benign	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Kif11	A	T	19: 37,398,195 (GRCm39)	I674L	probably benign	Het
Lrp1b	A	T	2: 41,136,033 (GRCm39)	C1646S	probably damaging	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mib1	C	A	18: 10,808,086 (GRCm39)	N944K	probably benign	Het
Mical3	C	A	6: 120,938,586 (GRCm39)	E262*	probably null	Het
Mms22l	C	T	4: 24,502,792 (GRCm39)	Q55*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrps11	T	C	7: 78,441,689 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ncapd2	A	G	6: 125,150,572 (GRCm39)	V843A	probably benign	Het
Nell1	A	G	7: 49,770,310 (GRCm39)	E123G	possibly damaging	Het
Nkd1	A	G	8: 89,316,383 (GRCm39)	D213G	probably benign	Het
Nlrp1b	T	C	11: 71,052,669 (GRCm39)	T920A	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or6c208	G	A	10: 129,223,915 (GRCm39)	V138M	probably benign	Het
Or8k40	T	A	2: 86,584,906 (GRCm39)	M59L	possibly damaging	Het
Pde8b	C	T	13: 95,178,447 (GRCm39)	A566T	possibly damaging	Het
Pds5b	T	A	5: 150,724,066 (GRCm39)	S1214R	probably benign	Het
Pld1	T	C	3: 28,083,393 (GRCm39)	I171T	probably benign	Het
Plekha5	T	A	6: 140,496,912 (GRCm39)	V154E	probably damaging	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppp1r16b	A	G	2: 158,603,383 (GRCm39)	Y436C	possibly damaging	Het
Proc	T	A	18: 32,260,526 (GRCm39)	T200S	probably benign	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Ptger2	G	A	14: 45,226,471 (GRCm39)	R17H	possibly damaging	Het
Rab42	A	G	4: 132,030,504 (GRCm39)	F49L	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rdh10	G	A	1: 16,201,287 (GRCm39)		probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Sftpc	T	C	14: 70,759,718 (GRCm39)		probably null	Het
Shcbp1	A	C	8: 4,789,178 (GRCm39)	V547G	probably damaging	Het
Slc6a13	T	C	6: 121,302,104 (GRCm39)	S229P	probably damaging	Het
Soat2	A	T	15: 102,066,144 (GRCm39)		probably benign	Het
Swap70	A	G	7: 109,867,079 (GRCm39)	K294E	probably benign	Het
Tcim	C	A	8: 24,928,725 (GRCm39)	R63L	probably damaging	Het
Tek	G	A	4: 94,751,898 (GRCm39)	V1013I	probably damaging	Het
Tg	T	A	15: 66,607,120 (GRCm39)	M219K	probably benign	Het
Tie1	A	G	4: 118,343,808 (GRCm39)	S45P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Tram1l1	T	A	3: 124,115,509 (GRCm39)	M223K	possibly damaging	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Uspl1	T	A	5: 149,151,405 (GRCm39)	D669E	probably damaging	Het
Vav1	C	A	17: 57,606,839 (GRCm39)		probably null	Het
Vcl	A	T	14: 21,065,007 (GRCm39)	E634V	probably benign	Het
Zfp672	A	T	11: 58,207,281 (GRCm39)	C347S	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
R4837:Dusp13b	UTSW	14	21,793,593 (GRCm39)	utr 3 prime	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'- CTACCTCTGACCCATTTGGAG -3'
(R):5'- AGGATAGGTTTGGGCCTCAG -3'

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

Posted On

2015-09-25