Mutagenetix > Incidental Mutation

Incidental Mutation 'R9630:Dusp13b'

725458

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9630 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21783463-21792947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21784974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 128 (N128K)

Ref Sequence

ENSEMBL: ENSMUSP00000113985 (fasta)

Gene Model

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

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
AA Change: N246K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112552
Gene: ENSMUSG00000021768
AA Change: N246K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120956
AA Change: N193K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113305
Gene: ENSMUSG00000021768
AA Change: N193K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120984
AA Change: N128K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113985
Gene: ENSMUSG00000021768
AA Change: N128K

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

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000183698
AA Change: N151K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139058
Gene: ENSMUSG00000021768
AA Change: N151K

Domain	Start	End	E-Value	Type
DSPc	68	213	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: ENSMUST00000183943
AA Change: N178K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000139154
Gene: ENSMUSG00000021768
AA Change: N178K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184703
AA Change: N128K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138972
Gene: ENSMUSG00000021768
AA Change: N128K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	A	G	6: 48,952,756 (GRCm39)	D227G	probably damaging	Het
Arhgap17	A	G	7: 122,907,540 (GRCm39)	M274T	probably benign	Het
Bco2	T	C	9: 50,456,757 (GRCm39)	T128A	possibly damaging	Het
Bcr	T	A	10: 74,966,950 (GRCm39)	L519Q	probably damaging	Het
Cadps2	A	T	6: 23,587,571 (GRCm39)	S306R	probably benign	Het
Cage1	T	C	13: 38,206,855 (GRCm39)	E330G	probably damaging	Het
Ccdc8	A	G	7: 16,728,733 (GRCm39)	K74R	possibly damaging	Het
Cdc42ep2	C	A	19: 5,968,363 (GRCm39)	G114V		Het
Celsr3	T	C	9: 108,704,296 (GRCm39)	S260P	probably benign	Het
Clic4	G	A	4: 134,944,476 (GRCm39)	T233I	probably damaging	Het
Clip2	C	A	5: 134,531,934 (GRCm39)	D624Y	probably damaging	Het
Clock	A	G	5: 76,393,281 (GRCm39)	S221P	probably benign	Het
Creb3l2	G	T	6: 37,356,808 (GRCm39)	S86R	possibly damaging	Het
Cspp1	G	A	1: 10,108,292 (GRCm39)		probably benign	Het
Efnb2	T	C	8: 8,670,617 (GRCm39)	S328G	probably damaging	Het
Egf	A	G	3: 129,518,844 (GRCm39)	L335P	possibly damaging	Het
Eml4	T	A	17: 83,717,572 (GRCm39)	V48D	probably damaging	Het
Fat2	A	C	11: 55,147,605 (GRCm39)	V3879G	probably benign	Het
Fcgbpl1	T	C	7: 27,836,624 (GRCm39)	L181P	probably damaging	Het
Flnb	T	A	14: 7,926,438 (GRCm38)	Y1827*	probably null	Het
Fuca2	A	T	10: 13,378,820 (GRCm39)	Y71F	probably benign	Het
Gcn1	C	A	5: 115,741,349 (GRCm39)	H1463N	probably damaging	Het
Ifitm10	C	T	7: 141,924,909 (GRCm39)	A48T	probably damaging	Het
Iqce	T	C	5: 140,666,591 (GRCm39)	D385G	possibly damaging	Het
Kdm5b	T	A	1: 134,512,971 (GRCm39)		probably null	Het
Kdm7a	A	T	6: 39,150,239 (GRCm39)	S178T	probably damaging	Het
Mmp12	T	A	9: 7,347,516 (GRCm39)	M31K	probably benign	Het
Mon2	C	T	10: 122,874,415 (GRCm39)	R311H	probably damaging	Het
Myh15	A	G	16: 48,980,341 (GRCm39)	T1488A	probably benign	Het
Myo15a	T	A	11: 60,407,988 (GRCm39)	C3159S	probably damaging	Het
Nf1	T	C	11: 79,302,470 (GRCm39)	V346A	probably damaging	Het
Nfkbib	A	T	7: 28,461,304 (GRCm39)	Y114*	probably null	Het
Nr2c1	T	A	10: 93,998,285 (GRCm39)	D76E	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or1ak2	T	C	2: 36,827,653 (GRCm39)	I174T	probably damaging	Het
Or4a74	C	A	2: 89,440,349 (GRCm39)	M32I	probably benign	Het
Or5m10b	A	G	2: 85,699,493 (GRCm39)	M186V	probably benign	Het
Or6c33	T	C	10: 129,853,410 (GRCm39)	F60S	probably damaging	Het
Or8h7	A	C	2: 86,720,956 (GRCm39)	S188A	probably damaging	Het
Pced1a	A	T	2: 130,261,109 (GRCm39)	I416N	probably benign	Het
Pdzd2	G	T	15: 12,374,443 (GRCm39)	D1897E	probably benign	Het
Pign	A	T	1: 105,481,591 (GRCm39)	F802I	probably benign	Het
Pik3c2g	C	A	6: 139,599,237 (GRCm39)	Q118K	possibly damaging	Het
Plcl2	A	G	17: 50,947,147 (GRCm39)	M1009V	probably benign	Het
Ppil6	T	A	10: 41,370,550 (GRCm39)	D59E	probably benign	Het
Rad23a	T	C	8: 85,564,919 (GRCm39)	D152G	probably benign	Het
Rif1	A	G	2: 51,979,607 (GRCm39)	I430V	probably damaging	Het
Rint1	T	C	5: 24,020,810 (GRCm39)	V611A	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sall4	A	G	2: 168,596,408 (GRCm39)	S811P	probably benign	Het
Scaf11	G	A	15: 96,316,049 (GRCm39)	P1172S	probably damaging	Het
Sel1l3	T	G	5: 53,342,117 (GRCm39)	N368H	possibly damaging	Het
Sele	C	A	1: 163,879,523 (GRCm39)	P352Q	probably damaging	Het
Serpinf1	T	A	11: 75,301,852 (GRCm39)	T268S	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sis	A	T	3: 72,828,722 (GRCm39)	N1152K	probably benign	Het
Slc16a13	T	C	11: 70,108,597 (GRCm39)	E411G	possibly damaging	Het
Slc22a23	T	C	13: 34,379,390 (GRCm39)	N459S	possibly damaging	Het
Srpk1	C	A	17: 28,819,404 (GRCm39)	K268N	probably benign	Het
Ssbp3	A	G	4: 106,895,426 (GRCm39)	Y258C	probably damaging	Het
Ssc5d	C	T	7: 4,939,426 (GRCm39)	P621S	probably damaging	Het
Strada	T	C	11: 106,077,781 (GRCm39)	Q61R	unknown	Het
Strn3	G	A	12: 51,657,013 (GRCm39)	T755I	probably damaging	Het
Taf4b	C	G	18: 14,930,077 (GRCm39)	P150A	probably damaging	Het
Tmem236	T	A	2: 14,223,815 (GRCm39)	H201Q	probably benign	Het
Top3b	A	G	16: 16,710,354 (GRCm39)	E728G	probably benign	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ugt2b36	C	T	5: 87,239,773 (GRCm39)	G204D	possibly damaging	Het
Vldlr	A	T	19: 27,207,623 (GRCm39)	Q37L	probably damaging	Het
Zfat	A	T	15: 67,990,793 (GRCm39)	I1031N	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
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

Predicted Primers

PCR Primer
(F):5'- CCATAATGTACCAATCATTGACTGG -3'
(R):5'- GTTCCAATGCAGTGAGATCCAC -3'

Sequencing Primer
(F):5'- GACTGGTAATAGCCATCTGGTCC -3'
(R):5'- ACAAGGGTCGTCTAATCCAGCTG -3'

Posted On

2022-09-12