Mutagenetix > Incidental Mutation

Incidental Mutation 'R7561:Asb4'

585109

Institutional Source

Beutler Lab

Gene Symbol

Asb4

Ensembl Gene

ENSMUSG00000042607

Gene Name

ankyrin repeat and SOCS box-containing 4

Synonyms

8430401O13Rik

MMRRC Submission

045654-MU

Accession Numbers

Essential gene?

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

Stock #

R7561 (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 T at 5430968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 401 (H401L)

Ref Sequence

ENSEMBL: ENSMUSP00000040331 (fasta)

Gene Model

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

AlphaFold

Q9WV71

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043294
AA Change: H401L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: H401L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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.] 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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,341,314 (GRCm39)	N314K	probably benign	Het
A430005L14Rik	T	A	4: 154,045,097 (GRCm39)	I80N	probably benign	Het
Abca2	A	G	2: 25,336,707 (GRCm39)	H2271R	probably damaging	Het
Acad8	T	C	9: 26,890,538 (GRCm39)	I257V	probably benign	Het
Acot12	A	T	13: 91,918,243 (GRCm39)	T179S	probably damaging	Het
Adcy10	A	G	1: 165,386,741 (GRCm39)	R1155G	possibly damaging	Het
Adcy9	C	T	16: 4,236,028 (GRCm39)	C461Y	probably damaging	Het
Adgrf1	G	A	17: 43,622,000 (GRCm39)	V746I	possibly damaging	Het
Agbl1	C	A	7: 76,348,509 (GRCm39)	Q869K	unknown	Het
AI837181	T	G	19: 5,476,491 (GRCm39)	V218G	probably damaging	Het
Alg9	T	C	9: 50,754,074 (GRCm39)	S585P	possibly damaging	Het
Arhgef38	T	C	3: 132,866,489 (GRCm39)	Q216R		Het
Atg7	G	T	6: 114,650,002 (GRCm39)	A60S	possibly damaging	Het
Atp10a	T	A	7: 58,476,881 (GRCm39)	C1199S	probably damaging	Het
Blm	G	A	7: 80,152,276 (GRCm39)	A557V	probably damaging	Het
Cbln1	A	T	8: 88,198,624 (GRCm39)	M82K	probably benign	Het
Ccdc183	T	G	2: 25,501,529 (GRCm39)	I293L	probably benign	Het
Col6a3	A	G	1: 90,703,463 (GRCm39)	S3035P	unknown	Het
Cux2	A	T	5: 122,017,931 (GRCm39)	S206T	probably benign	Het
Cyfip2	T	C	11: 46,161,425 (GRCm39)	D355G	probably benign	Het
Dhrs2	A	G	14: 55,474,698 (GRCm39)	H111R	probably benign	Het
Eif3b	T	G	5: 140,428,109 (GRCm39)	D781E	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fermt1	A	T	2: 132,758,008 (GRCm39)	I469N	probably benign	Het
Fgf20	G	T	8: 40,732,975 (GRCm39)	N154K	possibly damaging	Het
Fndc10	T	A	4: 155,779,328 (GRCm39)	V124E	probably damaging	Het
Fra10ac1	T	C	19: 38,210,324 (GRCm39)	D13G	probably damaging	Het
Gpatch1	A	G	7: 35,008,800 (GRCm39)	S74P	probably damaging	Het
Gramd1b	G	A	9: 40,312,911 (GRCm39)	T19I	unknown	Het
Grm8	T	C	6: 27,429,524 (GRCm39)	T457A	probably benign	Het
Gucy2g	C	A	19: 55,194,772 (GRCm39)	V882L	probably benign	Het
Hectd4	G	A	5: 121,429,288 (GRCm39)	R811H	possibly damaging	Het
Hk1	C	T	10: 62,116,807 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il10ra	T	A	9: 45,167,117 (GRCm39)	D480V	probably benign	Het
Il18rap	A	T	1: 40,563,537 (GRCm39)	H22L	probably benign	Het
Inpp5a	T	A	7: 139,147,338 (GRCm39)	I321N	probably damaging	Het
Insyn1	A	G	9: 58,406,687 (GRCm39)	D199G	probably damaging	Het
Kat2b	T	G	17: 53,948,286 (GRCm39)	L352R	probably benign	Het
Katnip	C	T	7: 125,441,894 (GRCm39)	S627L	probably benign	Het
Kcna1	A	T	6: 126,619,108 (GRCm39)	V404E	probably damaging	Het
Mcm3ap	T	A	10: 76,328,712 (GRCm39)	V1110E	possibly damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Mpdz	A	T	4: 81,225,388 (GRCm39)	N1368K	probably damaging	Het
Mpzl3	G	T	9: 44,966,610 (GRCm39)	V24F	probably benign	Het
Mybph	G	A	1: 134,121,465 (GRCm39)		probably null	Het
Ncam1	G	T	9: 49,476,242 (GRCm39)	D282E	probably damaging	Het
Ntrk2	G	A	13: 59,009,202 (GRCm39)	C331Y	probably benign	Het
Nwd2	T	A	5: 63,964,434 (GRCm39)	C1339*	probably null	Het
Or3a1d	T	C	11: 74,238,436 (GRCm39)		probably benign	Het
Or5b98	T	C	19: 12,931,403 (GRCm39)	V150A	probably benign	Het
Or8k33	T	C	2: 86,383,661 (GRCm39)	D269G	probably benign	Het
Osbpl6	C	A	2: 76,416,498 (GRCm39)	T672N	probably damaging	Het
Pds5b	T	C	5: 150,662,783 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,217 (GRCm39)	N587S	probably benign	Het
Pex7	A	T	10: 19,770,012 (GRCm39)	C165*	probably null	Het
Pik3r4	A	G	9: 105,564,446 (GRCm39)	T1347A	possibly damaging	Het
Pitpnm3	T	C	11: 71,942,008 (GRCm39)	D933G	probably benign	Het
Rnf213	T	A	11: 119,332,545 (GRCm39)	F2586I		Het
Scn10a	A	G	9: 119,523,390 (GRCm39)	M1T	probably null	Het
Sdhaf3	T	A	6: 6,956,079 (GRCm39)	L18Q	not run	Het
Septin7	A	G	9: 25,209,151 (GRCm39)	E256G	possibly damaging	Het
Slc35b2	A	G	17: 45,877,727 (GRCm39)	T236A	probably damaging	Het
Slc4a4	G	A	5: 89,347,556 (GRCm39)	G766R	probably damaging	Het
Slco6c1	G	T	1: 97,000,691 (GRCm39)	S537Y	probably damaging	Het
Srp68	T	C	11: 116,139,593 (GRCm39)	E452G	probably damaging	Het
Taf2	A	T	15: 54,919,229 (GRCm39)	M382K	probably benign	Het
Tas2r131	A	G	6: 132,933,921 (GRCm39)	L296P	probably benign	Het
Tlr9	A	G	9: 106,103,148 (GRCm39)	E813G	probably benign	Het
Trmt44	T	C	5: 35,715,336 (GRCm39)	E659G	possibly damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Unc45a	G	T	7: 79,981,334 (GRCm39)	S489R	possibly damaging	Het
Xrn1	T	C	9: 95,881,511 (GRCm39)	V795A	probably benign	Het
Zbtb22	A	T	17: 34,136,952 (GRCm39)	T366S	probably benign	Het
Zcchc10	T	A	11: 53,215,545 (GRCm39)	H6Q	probably benign	Het
Zfp60	A	G	7: 27,447,955 (GRCm39)	K208E	probably damaging	Het
Zfp780b	A	T	7: 27,664,037 (GRCm39)	C173S	possibly damaging	Het
Zfp786	C	A	6: 47,796,667 (GRCm39)	R757L	probably benign	Het
Zfp936	G	A	7: 42,839,339 (GRCm39)	A269T	probably damaging	Het
Zfp976	T	C	7: 42,265,701 (GRCm39)	Y29C	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
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'- ACGATCAGAGACTCTAGAAAGCTC -3'
(R):5'- AGTGTGATAACCAACCCAAGG -3'

Sequencing Primer
(F):5'- GACTCTAGAAAGCTCTTCTTATGTGG -3'
(R):5'- GGACCATTTTATCCATGCAAACTGC -3'

Posted On

2019-10-17