Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Stradb'

575049

Institutional Source

Beutler Lab

Gene Symbol

Stradb

Ensembl Gene

ENSMUSG00000026027

Gene Name

STE20-related kinase adaptor beta

Synonyms

PRO1038, D1Ucla2, Als2cr2

MMRRC Submission

045492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59012681-59034281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59027677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 69 (D69A)

Ref Sequence

ENSEMBL: ENSMUSP00000027185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027185] [ENSMUST00000114296] [ENSMUST00000123301] [ENSMUST00000153990]

AlphaFold

Q8K4T3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027185
AA Change: D69A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027185
Gene: ENSMUSG00000026027
AA Change: D69A

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	58	290	3.2e-26	PFAM
Pfam:Pkinase	58	369	7.9e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114296
AA Change: D69A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109935
Gene: ENSMUSG00000026027
AA Change: D69A

Domain	Start	End	E-Value	Type
Pfam:Pkinase	58	185	1.1e-16	PFAM
Pfam:Pkinase_Tyr	58	188	1.3e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123301
AA Change: D69A

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138036
Gene: ENSMUSG00000026027
AA Change: D69A

Domain	Start	End	E-Value	Type
Pfam:Pkinase	58	184	2.7e-17	PFAM
Pfam:Pkinase_Tyr	58	185	1.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152318

Predicted Effect

probably benign
Transcript: ENSMUST00000153990

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,241 (GRCm39)	T276I	possibly damaging	Het
Abca17	A	G	17: 24,547,543 (GRCm39)	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,134,280 (GRCm39)		probably null	Het
Abcc12	C	A	8: 87,287,479 (GRCm39)	R122L	possibly damaging	Het
Abcc8	A	G	7: 45,815,341 (GRCm39)		probably null	Het
Adam28	C	T	14: 68,864,396 (GRCm39)	R469K	probably damaging	Het
Adamts18	T	C	8: 114,504,362 (GRCm39)	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,791,754 (GRCm39)	S619P	probably damaging	Het
Alpk3	A	T	7: 80,742,600 (GRCm39)	T806S	probably benign	Het
Armh3	A	C	19: 45,953,874 (GRCm39)	V170G	probably benign	Het
Atoh1	T	A	6: 64,706,914 (GRCm39)	I203N	probably damaging	Het
Cables1	A	G	18: 11,973,572 (GRCm39)	E237G	probably benign	Het
Cacna1d	A	G	14: 30,074,947 (GRCm39)	M1T	probably null	Het
Ccdc91	C	T	6: 147,493,696 (GRCm39)	Q363*	probably null	Het
Cdhr17	A	T	5: 17,029,763 (GRCm39)	T500S	possibly damaging	Het
Ceacam5	T	A	7: 17,484,678 (GRCm39)	D473E	probably damaging	Het
Cfap54	T	A	10: 92,704,617 (GRCm39)	D2821V	unknown	Het
Clca3a2	A	G	3: 144,507,860 (GRCm39)	S737P	probably damaging	Het
Clec4n	T	A	6: 123,209,145 (GRCm39)	M70K	probably benign	Het
Dnai3	A	G	3: 145,802,900 (GRCm39)	V97A	probably damaging	Het
Dstyk	G	A	1: 132,345,404 (GRCm39)	G21S	probably benign	Het
Efcab3	T	G	11: 104,890,549 (GRCm39)	N4210K	probably benign	Het
Enpp5	A	G	17: 44,392,366 (GRCm39)	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,279,538 (GRCm39)		probably null	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Guk1	A	G	11: 59,076,811 (GRCm39)	F91L		Het
Ints1	C	T	5: 139,750,015 (GRCm39)	E961K	possibly damaging	Het
Irx2	T	A	13: 72,777,182 (GRCm39)	M1K	probably null	Het
Jrk	C	T	15: 74,579,048 (GRCm39)	R79H	possibly damaging	Het
Kcnu1	G	T	8: 26,382,116 (GRCm39)	V489L	probably damaging	Het
Kctd7	C	T	5: 130,181,265 (GRCm39)	T209M	probably benign	Het
Kdm5a	T	A	6: 120,403,776 (GRCm39)	V1127E	probably damaging	Het
Klk6	A	G	7: 43,476,367 (GRCm39)	H69R	probably damaging	Het
Lck	T	C	4: 129,445,763 (GRCm39)	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,496,734 (GRCm39)	L276P	probably damaging	Het
Med25	A	G	7: 44,527,667 (GRCm39)	W730R	probably damaging	Het
Muc4	T	C	16: 32,570,140 (GRCm39)	V400A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myt1	C	A	2: 181,456,899 (GRCm39)	H906Q	probably damaging	Het
Ncl	A	T	1: 86,278,564 (GRCm39)	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,713,009 (GRCm39)	T216N	probably benign	Het
Nos2	G	A	11: 78,835,681 (GRCm39)		probably null	Het
Nphp4	T	A	4: 152,639,174 (GRCm39)	I935N	probably benign	Het
Ntn1	G	A	11: 68,276,915 (GRCm39)	A11V	probably benign	Het
Or2t26	A	T	11: 49,039,821 (GRCm39)	M246L	probably benign	Het
Or4c10b	T	C	2: 89,711,605 (GRCm39)	V145A	probably damaging	Het
Pate11	T	C	9: 36,386,980 (GRCm39)	V16A	possibly damaging	Het
Pcdha12	A	G	18: 37,154,661 (GRCm39)	Y460C	probably damaging	Het
Pcdha4	G	T	18: 37,086,111 (GRCm39)	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,103,398 (GRCm39)	S234P	probably damaging	Het
Pmfbp1	A	T	8: 110,240,503 (GRCm39)	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,502,125 (GRCm39)	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,511,273 (GRCm39)		probably null	Het
Rhbdl2	G	A	4: 123,723,435 (GRCm39)	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Sema3a	T	G	5: 13,566,230 (GRCm39)	Y171*	probably null	Het
Set	A	G	2: 29,956,897 (GRCm39)	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,608,057 (GRCm39)	D229E	probably benign	Het
Slc12a2	A	T	18: 58,074,085 (GRCm39)	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,954,688 (GRCm39)	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slc6a20b	A	G	9: 123,434,013 (GRCm39)	I275T	probably benign	Het
Speer1e	T	A	5: 11,233,116 (GRCm39)		probably null	Het
Supt16	A	T	14: 52,415,508 (GRCm39)	V409E	probably damaging	Het
Tcea2	A	G	2: 181,328,457 (GRCm39)	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,033,072 (GRCm39)	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,668,116 (GRCm39)	H117L	probably benign	Het
Vps13c	T	A	9: 67,879,283 (GRCm39)	M3408K	probably damaging	Het
Wdfy4	A	C	14: 32,828,088 (GRCm39)	M1078R		Het
Ypel5	G	A	17: 73,153,439 (GRCm39)		probably null	Het

Other mutations in Stradb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00784:Stradb	APN	1	59,027,688 (GRCm39)	missense	probably damaging	0.98
IGL00843:Stradb	APN	1	59,033,568 (GRCm39)	missense	probably benign
IGL01288:Stradb	APN	1	59,031,460 (GRCm39)	missense	possibly damaging	0.61
IGL02045:Stradb	APN	1	59,028,937 (GRCm39)	missense	probably damaging	1.00
IGL02818:Stradb	APN	1	59,019,121 (GRCm39)	missense	probably damaging	0.99
P0047:Stradb	UTSW	1	59,028,957 (GRCm39)	missense	probably null	0.86
R0739:Stradb	UTSW	1	59,016,174 (GRCm39)	unclassified	probably benign
R0970:Stradb	UTSW	1	59,016,219 (GRCm39)	missense	possibly damaging	0.92
R1809:Stradb	UTSW	1	59,033,549 (GRCm39)	missense	possibly damaging	0.54
R1930:Stradb	UTSW	1	59,030,264 (GRCm39)	missense	probably benign	0.07
R1931:Stradb	UTSW	1	59,030,264 (GRCm39)	missense	probably benign	0.07
R1932:Stradb	UTSW	1	59,030,264 (GRCm39)	missense	probably benign	0.07
R2570:Stradb	UTSW	1	59,027,743 (GRCm39)	missense	probably damaging	1.00
R2919:Stradb	UTSW	1	59,031,828 (GRCm39)	missense	probably benign	0.44
R3104:Stradb	UTSW	1	59,031,450 (GRCm39)	missense	possibly damaging	0.86
R3105:Stradb	UTSW	1	59,031,450 (GRCm39)	missense	possibly damaging	0.86
R3106:Stradb	UTSW	1	59,031,450 (GRCm39)	missense	possibly damaging	0.86
R3772:Stradb	UTSW	1	59,024,544 (GRCm39)	missense	probably benign	0.04
R4120:Stradb	UTSW	1	59,019,168 (GRCm39)	missense	possibly damaging	0.92
R4417:Stradb	UTSW	1	59,033,531 (GRCm39)	missense	probably benign
R4569:Stradb	UTSW	1	59,019,117 (GRCm39)	nonsense	probably null
R4601:Stradb	UTSW	1	59,032,731 (GRCm39)	missense	probably damaging	0.98
R4758:Stradb	UTSW	1	59,027,730 (GRCm39)	missense	probably benign	0.02
R4786:Stradb	UTSW	1	59,030,367 (GRCm39)	intron	probably benign
R4944:Stradb	UTSW	1	59,019,599 (GRCm39)	missense	probably benign	0.27
R5113:Stradb	UTSW	1	59,030,333 (GRCm39)	intron	probably benign
R5568:Stradb	UTSW	1	59,031,901 (GRCm39)	missense	possibly damaging	0.72
R5765:Stradb	UTSW	1	59,031,903 (GRCm39)	missense	probably benign	0.31
R5970:Stradb	UTSW	1	59,019,175 (GRCm39)	critical splice donor site	probably null
R6234:Stradb	UTSW	1	59,027,707 (GRCm39)	missense	probably damaging	1.00
R7511:Stradb	UTSW	1	59,032,108 (GRCm39)	missense	probably damaging	0.97
R7569:Stradb	UTSW	1	59,030,310 (GRCm39)	missense	unknown
R7575:Stradb	UTSW	1	59,027,739 (GRCm39)	missense	probably benign	0.00
R7646:Stradb	UTSW	1	59,033,567 (GRCm39)	missense	probably benign	0.14
R7658:Stradb	UTSW	1	59,031,885 (GRCm39)	missense	probably damaging	0.96
R8306:Stradb	UTSW	1	59,030,356 (GRCm39)	missense	unknown
R8812:Stradb	UTSW	1	59,033,478 (GRCm39)	missense	probably benign	0.16
Z1176:Stradb	UTSW	1	59,032,158 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCATGGATGTCACTGTGG -3'
(R):5'- TCCCAATCTGGTAACTGCATGAC -3'

Sequencing Primer
(F):5'- CACTGTGGTGCTGAGGATACC -3'
(R):5'- GTTGGGGACAGAAAATTTCACAATCC -3'

Posted On

2019-10-07