Mutagenetix > Incidental Mutation

Incidental Mutation 'R4469:Asb4'

329314

Institutional Source

Beutler Lab

Gene Symbol

Asb4

Ensembl Gene

ENSMUSG00000042607

Gene Name

ankyrin repeat and SOCS box-containing 4

Synonyms

8430401O13Rik

MMRRC Submission

041726-MU

Accession Numbers

Essential gene?

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

Stock #

R4469 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5383386-5433022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5423409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 185 (F185L)

Ref Sequence

ENSEMBL: ENSMUSP00000040331 (fasta)

Gene Model

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

AlphaFold

Q9WV71

Predicted Effect

probably benign
Transcript: ENSMUST00000043294
AA Change: F185L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: F185L

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

Meta Mutation Damage Score

0.0615

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,345 (GRCm39)	K196E	probably damaging	Het
Ackr1	T	C	1: 173,160,112 (GRCm39)		probably null	Het
Adgra1	C	T	7: 139,455,977 (GRCm39)	T535I	probably damaging	Het
Ankrd11	A	G	8: 123,623,326 (GRCm39)	Y310H	probably damaging	Het
Arhgef5	T	C	6: 43,252,033 (GRCm39)	I928T	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ces2g	A	T	8: 105,692,602 (GRCm39)	I301F	probably benign	Het
Chd1	T	C	17: 15,980,657 (GRCm39)	I1308T	probably damaging	Het
Cntnap4	A	T	8: 113,391,898 (GRCm39)	N121I	probably damaging	Het
Csf1	C	T	3: 107,657,997 (GRCm39)		probably null	Het
Dnah7a	T	A	1: 53,483,685 (GRCm39)	H3364L	probably benign	Het
Dnmt3c	A	G	2: 153,562,280 (GRCm39)	T555A	possibly damaging	Het
Dst	A	G	1: 34,230,923 (GRCm39)	T3017A	probably benign	Het
Efcab7	A	G	4: 99,766,901 (GRCm39)	D482G	possibly damaging	Het
Fbxl5	A	G	5: 43,925,528 (GRCm39)	V154A	probably damaging	Het
Flt3	T	C	5: 147,312,454 (GRCm39)		silent	Het
G6pd2	A	T	5: 61,966,288 (GRCm39)	Y21F	probably benign	Het
Gm9376	C	T	14: 118,505,011 (GRCm39)	P148S	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
Hcrtr2	T	A	9: 76,137,838 (GRCm39)	T426S	probably benign	Het
Herc3	T	A	6: 58,853,794 (GRCm39)	Y613*	probably null	Het
Hsd17b1	A	T	11: 100,970,838 (GRCm39)	M265L	probably benign	Het
Ier3ip1	A	G	18: 77,028,294 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,404,940 (GRCm39)	M924V	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lancl2	T	A	6: 57,690,019 (GRCm39)	L75H	probably damaging	Het
Mfsd4b1	T	C	10: 39,888,091 (GRCm39)		probably benign	Het
Nlrc5	A	T	8: 95,247,467 (GRCm39)	I1588F	probably damaging	Het
Nostrin	C	G	2: 69,006,061 (GRCm39)	I248M	probably damaging	Het
Or12d14-ps1	A	G	17: 37,673,528 (GRCm39)	I170M	possibly damaging	Het
Or14j1	T	C	17: 38,146,607 (GRCm39)	L239P	probably benign	Het
Qng1	A	G	13: 58,530,239 (GRCm39)	L257P	probably damaging	Het
Rabggta	A	G	14: 55,953,944 (GRCm39)	V266A	probably benign	Het
Ror2	G	A	13: 53,286,016 (GRCm39)	T66M	possibly damaging	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Skp1	C	T	11: 52,135,905 (GRCm39)	T138I	probably benign	Het
Smad9	T	C	3: 54,690,182 (GRCm39)	V134A	probably damaging	Het
Snx29	T	A	16: 11,238,565 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,761,240 (GRCm39)	I152T	probably damaging	Het
Ssbp2	G	A	13: 91,842,175 (GRCm39)	G302D	probably damaging	Het
Stom	T	C	2: 35,211,545 (GRCm39)	N159D	possibly damaging	Het
Trav16d-dv11	A	G	14: 53,285,035 (GRCm39)	K37R	probably benign	Het
Trim75	A	G	8: 65,436,369 (GRCm39)	V27A	probably damaging	Het
Ttn	T	C	2: 76,548,105 (GRCm39)	T32066A	probably damaging	Het
Txndc11	T	C	16: 10,893,087 (GRCm39)	H881R	probably benign	Het
Ubp1	C	T	9: 113,787,775 (GRCm39)	T222I	probably benign	Het
Unc5cl	C	G	17: 48,766,833 (GRCm39)	P69R	possibly damaging	Het
Zfp616	T	A	11: 73,961,950 (GRCm39)	C24S	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
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
R9684:Asb4	UTSW	6	5,398,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCGTGAGAAAGAGTTATGCTC -3'
(R):5'- TTCCAGGCAGCCTTGTGTAG -3'

Sequencing Primer
(F):5'- GAGTTATGCTCAATGAACCTCATGAG -3'
(R):5'- GAAATCATCATCACGAGCGTTG -3'

Posted On

2015-07-21