Mutagenetix > Incidental Mutation

Incidental Mutation 'R8486:Asb4'

657733

Institutional Source

Beutler Lab

Gene Symbol

Asb4

Ensembl Gene

ENSMUSG00000042607

Gene Name

ankyrin repeat and SOCS box-containing 4

Synonyms

8430401O13Rik

MMRRC Submission

067929-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R8486 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5383386-5433022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5390653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 15 (K15N)

Ref Sequence

ENSEMBL: ENSMUSP00000139245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043294] [ENSMUST00000183358]

AlphaFold

Q9WV71

Predicted Effect

probably benign
Transcript: ENSMUST00000043294
AA Change: K15N

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

SMART Domains

Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: K15N

Domain	Start	End	E-Value	Type
ANK	74	103	6.26e-2	SMART
ANK	106	135	4.46e-7	SMART
ANK	139	168	4.86e1	SMART
ANK	174	203	2.43e1	SMART
ANK	207	247	1.17e2	SMART
ANK	251	280	8.86e-2	SMART
SOCS_box	381	420	7.48e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183358
AA Change: K15N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139245
Gene: ENSMUSG00000042607
AA Change: K15N

Domain	Start	End	E-Value	Type
ANK	74	103	6.26e-2	SMART
ANK	106	135	4.46e-7	SMART
ANK	139	168	1.02e3	SMART

Coding Region Coverage

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

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes impaired placentation, embryonic growth arrest, reduced litter size, and pre-eclampsia like features including hypertension and albuminuria in late-stage pregnant females as well as renal defects including glomerular endotheliosis and mesangial expansion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,225,092 (GRCm39)	S524G	probably benign	Het
Abca8b	A	T	11: 109,857,937 (GRCm39)	I546N	possibly damaging	Het
Abcd4	C	T	12: 84,650,752 (GRCm39)	R532H	probably damaging	Het
Acsf2	A	T	11: 94,460,786 (GRCm39)	D373E	probably damaging	Het
Acsm1	A	G	7: 119,259,880 (GRCm39)	T510A	probably damaging	Het
Adam21	C	T	12: 81,607,550 (GRCm39)	V71I	probably benign	Het
Adgra3	T	C	5: 50,147,621 (GRCm39)	D473G	probably damaging	Het
Agbl2	G	A	2: 90,631,499 (GRCm39)	V286I	possibly damaging	Het
Alkbh8	A	G	9: 3,344,642 (GRCm39)	E141G	probably null	Het
Arhgap21	T	C	2: 20,865,236 (GRCm39)	D952G	probably damaging	Het
Cert1	T	C	13: 96,770,690 (GRCm39)	V533A	probably damaging	Het
Clip1	G	T	5: 123,752,770 (GRCm39)		probably benign	Het
Clip4	T	C	17: 72,170,839 (GRCm39)		probably benign	Het
Cyp2b10	T	C	7: 25,614,306 (GRCm39)	V260A	probably benign	Het
Dnm1	C	T	2: 32,224,739 (GRCm39)	M430I	probably benign	Het
Dpp7	T	C	2: 25,242,561 (GRCm39)	D464G	probably damaging	Het
Dspp	A	G	5: 104,321,883 (GRCm39)		probably benign	Het
Ephb1	A	C	9: 101,841,164 (GRCm39)	D730E	probably benign	Het
Fancf	A	G	7: 51,511,632 (GRCm39)	V124A	probably benign	Het
Fgfr2	G	A	7: 129,765,745 (GRCm39)	P692S	possibly damaging	Het
Fkbp15	G	A	4: 62,230,521 (GRCm39)	R731*	probably null	Het
Fos	T	C	12: 85,522,805 (GRCm39)	F239S	probably benign	Het
Fuz	T	C	7: 44,548,092 (GRCm39)	Y107H	probably damaging	Het
Gm3159	A	C	14: 4,400,520 (GRCm38)	N193T	probably damaging	Het
Helz2	T	A	2: 180,871,124 (GRCm39)	D2771V	probably damaging	Het
Ighv1-18	T	A	12: 114,646,325 (GRCm39)	K92M	probably damaging	Het
Kcnh3	A	G	15: 99,136,091 (GRCm39)	Y696C	probably damaging	Het
Klf15	T	A	6: 90,444,160 (GRCm39)	V245D	probably damaging	Het
L1td1	C	T	4: 98,625,911 (GRCm39)	A702V	probably damaging	Het
Lamc2	A	G	1: 153,034,637 (GRCm39)	M122T	probably benign	Het
Lrp1b	A	G	2: 41,618,702 (GRCm39)	L124P	probably damaging	Het
Mcrs1	G	T	15: 99,146,349 (GRCm39)	Y85*	probably null	Het
Mgst1	A	T	6: 138,120,026 (GRCm39)	I29L	probably benign	Het
Miga1	C	T	3: 151,982,390 (GRCm39)	R562H	probably damaging	Het
Mybpc3	T	C	2: 90,959,117 (GRCm39)	W687R	probably damaging	Het
Myh11	G	T	16: 14,022,532 (GRCm39)	A1682D	possibly damaging	Het
Nes	T	C	3: 87,887,320 (GRCm39)	S1816P	probably damaging	Het
Or52p1	T	C	7: 104,267,069 (GRCm39)	V69A	possibly damaging	Het
Or5c1	T	G	2: 37,222,662 (GRCm39)	V301G	probably damaging	Het
Pkhd1l1	T	G	15: 44,410,812 (GRCm39)	F2773C	probably damaging	Het
Pkp1	C	G	1: 135,846,714 (GRCm39)	E13Q	probably damaging	Het
Ppp2r2b	T	C	18: 43,031,869 (GRCm39)	D4G	probably benign	Het
Ppp6r3	G	A	19: 3,537,072 (GRCm39)	H455Y	probably benign	Het
R3hdm1	A	G	1: 128,106,657 (GRCm39)	R202G	probably benign	Het
Sgcz	T	G	8: 38,190,207 (GRCm39)	K106N	probably benign	Het
Slc13a4	T	C	6: 35,247,304 (GRCm39)	Y572C	probably damaging	Het
Syne2	C	T	12: 76,088,881 (GRCm39)	Q5080*	probably null	Het
Tpst2	C	T	5: 112,456,171 (GRCm39)	Q5*	probably null	Het
Ttn	T	A	2: 76,561,877 (GRCm39)	T28908S	possibly damaging	Het
Vmn1r120	C	T	7: 20,787,027 (GRCm39)	R228H	probably benign	Het
Vmn2r3	T	C	3: 64,186,370 (GRCm39)	N105S	probably damaging	Het
Zfp521	T	C	18: 13,979,829 (GRCm39)	T195A	probably damaging	Het
Zfp616	T	A	11: 73,974,909 (GRCm39)	S484T	probably benign	Het

Other mutations in Asb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02086:Asb4	APN	6	5,398,386 (GRCm39)	missense	probably benign	0.00
IGL03015:Asb4	APN	6	5,398,515 (GRCm39)	missense	possibly damaging	0.75
IGL03280:Asb4	APN	6	5,423,416 (GRCm39)	missense	probably benign
R1146:Asb4	UTSW	6	5,423,591 (GRCm39)	missense	probably damaging	0.99
R1146:Asb4	UTSW	6	5,423,591 (GRCm39)	missense	probably damaging	0.99
R1267:Asb4	UTSW	6	5,423,747 (GRCm39)	missense	probably damaging	1.00
R1435:Asb4	UTSW	6	5,398,410 (GRCm39)	missense	probably benign	0.33
R1595:Asb4	UTSW	6	5,390,692 (GRCm39)	missense	probably damaging	1.00
R1764:Asb4	UTSW	6	5,390,798 (GRCm39)	splice site	probably null
R2118:Asb4	UTSW	6	5,390,687 (GRCm39)	missense	probably benign
R3976:Asb4	UTSW	6	5,390,771 (GRCm39)	missense	probably benign	0.01
R4020:Asb4	UTSW	6	5,390,803 (GRCm39)	splice site	probably benign
R4067:Asb4	UTSW	6	5,423,651 (GRCm39)	missense	probably damaging	1.00
R4469:Asb4	UTSW	6	5,423,409 (GRCm39)	missense	probably benign	0.01
R4895:Asb4	UTSW	6	5,398,266 (GRCm39)	missense	probably damaging	0.98
R5432:Asb4	UTSW	6	5,430,912 (GRCm39)	missense	probably damaging	1.00
R5444:Asb4	UTSW	6	5,431,040 (GRCm39)	missense	probably damaging	0.98
R6196:Asb4	UTSW	6	5,390,699 (GRCm39)	missense	probably benign	0.05
R6276:Asb4	UTSW	6	5,431,043 (GRCm39)	missense	probably damaging	1.00
R6333:Asb4	UTSW	6	5,423,597 (GRCm39)	missense	probably damaging	1.00
R6922:Asb4	UTSW	6	5,398,304 (GRCm39)	missense	possibly damaging	0.87
R7098:Asb4	UTSW	6	5,398,499 (GRCm39)	missense	probably damaging	1.00
R7196:Asb4	UTSW	6	5,423,356 (GRCm39)	missense	probably benign	0.00
R7547:Asb4	UTSW	6	5,398,350 (GRCm39)	missense	probably damaging	1.00
R7561:Asb4	UTSW	6	5,430,968 (GRCm39)	missense	possibly damaging	0.87
R7707:Asb4	UTSW	6	5,430,968 (GRCm39)	missense	probably benign	0.05
R9170:Asb4	UTSW	6	5,390,775 (GRCm39)	missense	probably benign	0.26
R9440:Asb4	UTSW	6	5,429,817 (GRCm39)	missense	probably benign	0.01
R9684:Asb4	UTSW	6	5,398,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCGCTTACGTATCTCCAG -3'
(R):5'- AATTCCAGGCGCAAGAATGG -3'

Sequencing Primer
(F):5'- CGTATCTCCAGTTTAAAGGACCTGAG -3'
(R):5'- TGTATGGATCTATGAAAATCACCCCC -3'

Posted On

2021-01-18