Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Asb4'

713583

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: 0.229) question?

Stock #

R9440 (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 G at 5429817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 352 (I352M)

Ref Sequence

ENSEMBL: ENSMUSP00000040331 (fasta)

Gene Model

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

AlphaFold

Q9WV71

Predicted Effect

probably benign
Transcript: ENSMUST00000043294
AA Change: I352M

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: I352M

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: 99.5%
20x: 98.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,499,452 (GRCm39)	T1359M	probably benign	Het
Acacb	T	A	5: 114,384,085 (GRCm39)	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,841,591 (GRCm39)	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,068,992 (GRCm39)		probably null	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
BC034090	A	G	1: 155,101,961 (GRCm39)	L101P	probably benign	Het
Bms1	A	T	6: 118,382,217 (GRCm39)	D440E	probably benign	Het
Bpifb6	A	T	2: 153,747,914 (GRCm39)	D191V	probably benign	Het
Cfap298	A	T	16: 90,726,832 (GRCm39)	V116E	probably benign	Het
Cfd	T	C	10: 79,726,816 (GRCm39)		probably null	Het
Cnot3	G	A	7: 3,656,560 (GRCm39)	E252K	probably damaging	Het
Col6a3	T	C	1: 90,707,068 (GRCm39)	D2622G	unknown	Het
Crybg2	T	C	4: 133,801,602 (GRCm39)	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,493,581 (GRCm39)	K167R	probably damaging	Het
Gbp3	T	C	3: 142,272,335 (GRCm39)	V279A	possibly damaging	Het
Gipc2	T	C	3: 151,833,706 (GRCm39)	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,697,911 (GRCm39)	V20A		Het
Gorasp2	T	C	2: 70,541,469 (GRCm39)		probably null	Het
Gpr179	A	G	11: 97,229,315 (GRCm39)	S947P	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,636,051 (GRCm39)	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,455,600 (GRCm39)	V876A	probably benign	Het
Marf1	A	C	16: 13,938,196 (GRCm39)	D1433E	probably benign	Het
Mcm4	A	T	16: 15,453,175 (GRCm39)	C171*	probably null	Het
Micall1	C	T	15: 79,011,159 (GRCm39)	P510S		Het
Morc3	A	G	16: 93,649,975 (GRCm39)		probably null	Het
Mrpl28	G	T	17: 26,345,266 (GRCm39)	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,782,364 (GRCm39)	Y52*	probably null	Het
Mybphl	T	C	3: 108,282,202 (GRCm39)	I144T	probably benign	Het
Myom1	A	G	17: 71,433,329 (GRCm39)	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or5p67	A	G	7: 107,922,037 (GRCm39)	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Plxna1	T	C	6: 89,318,912 (GRCm39)	K637R	probably benign	Het
Prob1	G	T	18: 35,786,218 (GRCm39)	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,118,718 (GRCm39)	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,383,090 (GRCm39)	C399R	probably benign	Het
Smc4	T	A	3: 68,915,455 (GRCm39)		probably null	Het
St14	A	G	9: 31,007,845 (GRCm39)	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,573,906 (GRCm39)	L102*	probably null	Het
Tex15	A	G	8: 34,072,273 (GRCm39)	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,886,932 (GRCm39)		probably benign	Het
Trip4	T	C	9: 65,760,234 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,955,709 (GRCm39)	I358V	probably benign	Het
Uroc1	C	A	6: 90,322,353 (GRCm39)	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,962,415 (GRCm39)	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,703,047 (GRCm39)	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724 (GRCm39)	I69V	probably benign	Het
Wdr97	T	C	15: 76,245,064 (GRCm39)	S1176P		Het
Xirp1	G	A	9: 119,847,203 (GRCm39)	T560M	probably damaging	Het
Zfp512	A	T	5: 31,628,359 (GRCm39)	T266S	possibly 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
R9684:Asb4	UTSW	6	5,398,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTGACTCACTGGTGACTC -3'
(R):5'- TCTCAGAGAAATTCCCAAGACTTC -3'

Sequencing Primer
(F):5'- ACTCACTGGTGACTCTTGGTTG -3'
(R):5'- GAGAAATTCCCAAGACTTCCTATATC -3'

Posted On

2022-06-15