Mutagenetix > Incidental Mutation

Incidental Mutation 'R7575:Stradb'

586297

Institutional Source

Beutler Lab

Gene Symbol

Stradb

Ensembl Gene

ENSMUSG00000026027

Gene Name

STE20-related kinase adaptor beta

Synonyms

PRO1038, D1Ucla2, Als2cr2

MMRRC Submission

045632-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7575 (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 G at 59027739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 90 (I90V)

Ref Sequence

ENSEMBL: ENSMUSP00000027185 (fasta)

Gene Model

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

AlphaFold

Q8K4T3

Predicted Effect

probably benign
Transcript: ENSMUST00000027185
AA Change: I90V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027185
Gene: ENSMUSG00000026027
AA Change: I90V

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

probably benign
Transcript: ENSMUST00000114296
AA Change: I90V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109935
Gene: ENSMUSG00000026027
AA Change: I90V

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

probably benign
Transcript: ENSMUST00000123301
AA Change: I90V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138036
Gene: ENSMUSG00000026027
AA Change: I90V

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,384,589 (GRCm39)	V459I	probably benign	Het
4921539E11Rik	T	C	4: 103,088,192 (GRCm39)	D439G	probably damaging	Het
Adam18	T	C	8: 25,115,873 (GRCm39)	N607S	possibly damaging	Het
Adamtsl3	A	T	7: 82,223,756 (GRCm39)	N1179I	possibly damaging	Het
Adarb1	A	G	10: 77,139,129 (GRCm39)	F552S	probably damaging	Het
Ago1	T	C	4: 126,347,701 (GRCm39)	E394G	probably benign	Het
Alb	G	A	5: 90,613,788 (GRCm39)	C224Y	probably damaging	Het
Alms1	T	A	6: 85,599,141 (GRCm39)	H1322Q	possibly damaging	Het
Arhgef18	T	G	8: 3,501,635 (GRCm39)	V643G	probably damaging	Het
Asah2	T	C	19: 31,994,103 (GRCm39)	Q414R	probably benign	Het
Atpsckmt	C	T	15: 31,606,186 (GRCm39)	A48V	probably damaging	Het
Bbc3	G	A	7: 16,046,292 (GRCm39)	R76H	possibly damaging	Het
Bub1b	T	A	2: 118,471,639 (GRCm39)	S1000T	possibly damaging	Het
Bud23	A	T	5: 135,089,982 (GRCm39)	Y70*	probably null	Het
C1d	A	G	11: 17,212,694 (GRCm39)	E13G	probably damaging	Het
Camk1	T	A	6: 113,315,325 (GRCm39)	I158F	probably damaging	Het
Ccr2	A	C	9: 123,905,843 (GRCm39)	D41A	probably benign	Het
Cdh18	G	T	15: 23,400,683 (GRCm39)	E348*	probably null	Het
Col6a3	A	G	1: 90,738,321 (GRCm39)	L1066P	possibly damaging	Het
Cyp11b1	T	A	15: 74,711,162 (GRCm39)	D172V	probably benign	Het
Cyp2j8	A	G	4: 96,358,785 (GRCm39)	I378T	possibly damaging	Het
Cys1	T	A	12: 24,718,647 (GRCm39)	K69*	probably null	Het
Dip2c	A	G	13: 9,678,048 (GRCm39)	K1165E	probably damaging	Het
Drd3	A	T	16: 43,637,496 (GRCm39)	I232F	probably benign	Het
Dusp7	T	C	9: 106,250,876 (GRCm39)	C334R	probably damaging	Het
Eppk1	A	G	15: 75,995,442 (GRCm39)	S480P	not run	Het
Erc1	G	T	6: 119,801,721 (GRCm39)	P99T	possibly damaging	Het
Fam170b	C	T	14: 32,558,155 (GRCm39)	P330L	unknown	Het
Fasn	G	T	11: 120,703,513 (GRCm39)	T1573K	possibly damaging	Het
Fras1	A	T	5: 96,691,173 (GRCm39)	T130S	probably benign	Het
Fzd4	A	G	7: 89,056,918 (GRCm39)	I322V	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gdpd4	A	T	7: 97,647,448 (GRCm39)	H365L	probably benign	Het
Gfy	A	G	7: 44,827,524 (GRCm39)	S191P	probably benign	Het
Ghr	A	T	15: 3,349,994 (GRCm39)	S395T	probably damaging	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Htt	A	G	5: 35,062,987 (GRCm39)	D2873G	probably damaging	Het
Idua	A	T	5: 108,829,565 (GRCm39)	D476V	probably damaging	Het
Inppl1	G	A	7: 101,477,689 (GRCm39)	R683W	probably damaging	Het
Ipp	T	C	4: 116,389,841 (GRCm39)	S466P	probably benign	Het
Iqgap2	A	G	13: 95,798,131 (GRCm39)	V1058A	probably damaging	Het
Jmy	A	T	13: 93,601,103 (GRCm39)	Y434*	probably null	Het
Kmt2d	CTGCTGCTG	CTGCTGCTGATGCTGCTG	15: 98,747,492 (GRCm39)		probably benign	Het
Mogs	T	G	6: 83,092,816 (GRCm39)	S85R	probably damaging	Het
Mroh2b	A	T	15: 4,964,087 (GRCm39)	D863V	probably damaging	Het
Mtmr10	A	T	7: 63,947,213 (GRCm39)	I43F	probably damaging	Het
Mtr	T	C	13: 12,213,963 (GRCm39)	D903G	probably benign	Het
Ncor1	A	G	11: 62,274,082 (GRCm39)	V186A	probably benign	Het
Notch3	C	T	17: 32,373,793 (GRCm39)	D472N	possibly damaging	Het
Or4k44	A	T	2: 111,368,597 (GRCm39)	F12L	probably damaging	Het
Or6c68	T	C	10: 129,157,728 (GRCm39)	F79L	probably damaging	Het
Or8j3c	A	G	2: 86,253,582 (GRCm39)	F146S	probably benign	Het
Or9i1	T	C	19: 13,839,381 (GRCm39)	S75P	probably damaging	Het
Oxr1	T	G	15: 41,686,758 (GRCm39)	L547V	possibly damaging	Het
Pappa2	A	T	1: 158,642,100 (GRCm39)	C1319S	probably damaging	Het
Papss1	A	C	3: 131,348,857 (GRCm39)	K623N	probably damaging	Het
Parp4	T	C	14: 56,875,375 (GRCm39)	F1198S	probably benign	Het
Pcare	T	A	17: 72,057,850 (GRCm39)	Q609L	probably damaging	Het
Pcnt	A	T	10: 76,225,086 (GRCm39)	V1806D	probably benign	Het
Pitx2	A	T	3: 129,009,375 (GRCm39)	H98L	probably damaging	Het
Polq	C	A	16: 36,911,496 (GRCm39)	D2410E	probably benign	Het
Prdm9	C	T	17: 15,764,890 (GRCm39)	C630Y	probably damaging	Het
Preb	A	T	5: 31,115,839 (GRCm39)	D201E	probably damaging	Het
Rasa3	A	T	8: 13,645,887 (GRCm39)	I151N	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,397 (GRCm39)	S147T	probably damaging	Het
Rev3l	A	G	10: 39,697,441 (GRCm39)	D646G	possibly damaging	Het
Sdc1	A	G	12: 8,840,619 (GRCm39)	E128G	probably damaging	Het
Slamf7	A	C	1: 171,466,762 (GRCm39)	C148G	probably damaging	Het
Slc19a2	T	C	1: 164,084,691 (GRCm39)	S194P	probably damaging	Het
Spata31	C	T	13: 65,070,726 (GRCm39)	P958L	unknown	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Tas2r134	A	G	2: 51,518,166 (GRCm39)	D215G	probably damaging	Het
Tbc1d4	T	C	14: 101,685,025 (GRCm39)	K1209E	probably damaging	Het
Thbs1	A	G	2: 117,953,409 (GRCm39)	D942G	probably damaging	Het
Tmem107	C	T	11: 68,963,633 (GRCm39)	P139S	probably benign	Het
Tmem216	A	T	19: 10,529,266 (GRCm39)	M40K	probably benign	Het
Tpte	A	G	8: 22,845,498 (GRCm39)	Y516C	probably damaging	Het
Trim54	G	A	5: 31,291,431 (GRCm39)	G184D	possibly damaging	Het
Try5	A	T	6: 41,288,748 (GRCm39)	L157Q	probably benign	Het
Ubqlnl	G	A	7: 103,797,697 (GRCm39)	A600V	probably damaging	Het
Uhrf2	C	A	19: 30,048,768 (GRCm39)	P258Q	probably damaging	Het
Ush2a	A	T	1: 188,554,885 (GRCm39)	E3554D	possibly damaging	Het
Usp40	A	C	1: 87,877,682 (GRCm39)	L1158W	probably damaging	Het
Vmn1r121	T	A	7: 20,832,198 (GRCm39)	R81*	probably null	Het
Vmn1r203	C	A	13: 22,708,588 (GRCm39)	T123K	probably benign	Het
Vmn2r101	T	C	17: 19,831,654 (GRCm39)	V550A	probably benign	Het
Wdr49	A	T	3: 75,358,193 (GRCm39)	M184K	probably damaging	Het
Wipi2	A	G	5: 142,643,987 (GRCm39)	N123S	probably damaging	Het
Zbtb14	T	C	17: 69,694,442 (GRCm39)	F47L	probably damaging	Het
Zc3h7b	C	A	15: 81,662,086 (GRCm39)	S385*	probably null	Het
Zhx2	T	A	15: 57,686,658 (GRCm39)	F676I	probably damaging	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
R7411:Stradb	UTSW	1	59,027,677 (GRCm39)	missense	possibly damaging	0.95
R7511:Stradb	UTSW	1	59,032,108 (GRCm39)	missense	probably damaging	0.97
R7569:Stradb	UTSW	1	59,030,310 (GRCm39)	missense	unknown
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'- TCACTGTGGTGCTGAGGATAC -3'
(R):5'- ACGTGTTCTTCCCAATCTGG -3'

Sequencing Primer
(F):5'- TGAGGATACCTGAGCCTTTTC -3'
(R):5'- CCCAATCTGGTAACTGCATGACTTAG -3'

Posted On

2019-10-24