Mutagenetix > Incidental Mutation

Incidental Mutation 'R9684:Asb4'

728733

Institutional Source

Beutler Lab

Gene Symbol

Asb4

Ensembl Gene

ENSMUSG00000042607

Gene Name

ankyrin repeat and SOCS box-containing 4

Synonyms

8430401O13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R9684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5383386-5433022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5398296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 87 (H87P)

Ref Sequence

ENSEMBL: ENSMUSP00000040331 (fasta)

Gene Model

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

AlphaFold

Q9WV71

Predicted Effect

probably damaging
Transcript: ENSMUST00000043294
AA Change: H87P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: H87P

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: H87P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139245
Gene: ENSMUSG00000042607
AA Change: H87P

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: 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.] 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	T	11: 9,283,307 (GRCm39)	D3243V	probably damaging	Het
Acot3	T	C	12: 84,105,650 (GRCm39)	L281P	probably benign	Het
Ccnt1	A	T	15: 98,446,566 (GRCm39)	Y175N	probably damaging	Het
Cdh11	A	G	8: 103,391,327 (GRCm39)	V303A	probably benign	Het
Cdk19	T	A	10: 40,351,594 (GRCm39)	M297K	probably damaging	Het
Ces2c	A	C	8: 105,574,699 (GRCm39)	D52A	probably benign	Het
Cox10	C	T	11: 63,855,207 (GRCm39)	R358H	probably damaging	Het
Cryzl1	A	G	16: 91,487,634 (GRCm39)	I302T	probably benign	Het
Def6	T	C	17: 28,436,044 (GRCm39)	Y68H	probably damaging	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Ehmt1	T	C	2: 24,753,329 (GRCm39)	D357G	possibly damaging	Het
Ermp1	G	T	19: 29,594,106 (GRCm39)	T688N	probably benign	Het
F830016B08Rik	T	C	18: 60,433,043 (GRCm39)	I42T	probably damaging	Het
Gbp7	A	G	3: 142,240,327 (GRCm39)	E15G	possibly damaging	Het
Ghdc	A	G	11: 100,661,091 (GRCm39)	S25P	probably benign	Het
Gm45861	A	G	8: 28,014,601 (GRCm39)	N613S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gzmf	T	A	14: 56,444,444 (GRCm39)	D43V	probably benign	Het
Hdac10	C	A	15: 89,011,402 (GRCm39)	D172Y	probably damaging	Het
Krt32	T	A	11: 99,977,308 (GRCm39)	R197S	probably damaging	Het
Lama5	T	C	2: 179,849,038 (GRCm39)	D215G	probably damaging	Het
M1ap	C	A	6: 82,945,094 (GRCm39)	H129Q	probably benign	Het
Mfsd3	A	G	15: 76,587,183 (GRCm39)	D312G	probably benign	Het
Muc5ac	A	G	7: 141,364,798 (GRCm39)	D2628G	probably benign	Het
Myoz3	T	C	18: 60,712,026 (GRCm39)	D184G	possibly damaging	Het
Ncor2	A	G	5: 125,102,139 (GRCm39)	L1217P		Het
Nepn	T	C	10: 52,276,801 (GRCm39)	V179A	probably benign	Het
Niban1	T	A	1: 151,593,538 (GRCm39)	I741N	possibly damaging	Het
Npr2	T	C	4: 43,632,491 (GRCm39)	Y103H	probably damaging	Het
Oosp3	A	T	19: 11,682,806 (GRCm39)	K158M	probably benign	Het
Or51i1	C	A	7: 103,671,079 (GRCm39)	G149C	probably damaging	Het
Or56a3	A	G	7: 104,735,589 (GRCm39)	Y222C		Het
Orc3	G	A	4: 34,607,135 (GRCm39)	T65I	probably benign	Het
Pcdhga7	T	C	18: 37,848,667 (GRCm39)	S225P	probably damaging	Het
Pcsk9	G	T	4: 106,307,386 (GRCm39)	L286I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma1	T	C	12: 84,193,941 (GRCm39)	Y254C	probably benign	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ralgapa1	T	C	12: 55,659,485 (GRCm39)	T2012A	possibly damaging	Het
Selp	T	A	1: 163,953,858 (GRCm39)	W53R	probably damaging	Het
Slc10a7	T	A	8: 79,456,304 (GRCm39)	V302E	possibly damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Spesp1	A	G	9: 62,180,545 (GRCm39)	F121S	probably damaging	Het
Syncrip	T	C	9: 88,361,671 (GRCm39)	T110A	probably benign	Het
Tc2n	T	C	12: 101,660,818 (GRCm39)	D138G	probably benign	Het
Tnfrsf9	C	T	4: 151,018,865 (GRCm39)	P179S	probably benign	Het
Ube2r2	A	G	4: 41,183,329 (GRCm39)	T117A	probably benign	Het
Ush2a	A	C	1: 188,132,078 (GRCm39)	K767Q	possibly damaging	Het
Vdr	A	G	15: 97,767,285 (GRCm39)	V161A	probably benign	Het
Vmn1r33	T	C	6: 66,589,075 (GRCm39)	T160A	possibly damaging	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmp1	T	C	11: 86,476,156 (GRCm39)	N400S	probably benign	Het
Zfp599	G	A	9: 22,160,824 (GRCm39)	T447I	probably damaging	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
R8486:Asb4	UTSW	6	5,390,653 (GRCm39)	missense	possibly damaging	0.72
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

Predicted Primers

PCR Primer
(F):5'- AAGGCTCTGAGAGACTCAGC -3'
(R):5'- AAGTGCAAAGCAGTGTGCC -3'

Sequencing Primer
(F):5'- GCTGCCAGTGACAAACTCCTG -3'
(R):5'- CCACTCAGGGAGTAGCAGTTG -3'

Posted On

2022-10-06