Mutagenetix > Incidental Mutation

Incidental Mutation 'R2113:Asb1'

232725

Institutional Source

Beutler Lab

Gene Symbol

Asb1

Ensembl Gene

ENSMUSG00000026311

Gene Name

ankyrin repeat and SOCS box-containing 1

Synonyms

1700029O08Rik, 1700054C17Rik

MMRRC Submission

040117-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R2113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91468266-91487311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91471950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 34 (L34P)

Ref Sequence

ENSEMBL: ENSMUSP00000140731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027538] [ENSMUST00000086843] [ENSMUST00000186068] [ENSMUST00000188081] [ENSMUST00000188879] [ENSMUST00000190484]

AlphaFold

Q9WV74

Predicted Effect

probably benign
Transcript: ENSMUST00000027538

SMART Domains

Protein: ENSMUSP00000027538
Gene: ENSMUSG00000026311

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
ANK	37	69	2.43e1	SMART
ANK	78	107	7.48e0	SMART
ANK	111	140	3.01e-4	SMART
ANK	144	173	9.78e-4	SMART
ANK	196	221	2.25e2	SMART
Blast:ANK	235	266	2e-11	BLAST
SOCS_box	297	336	6.36e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086843
AA Change: L42P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084054
Gene: ENSMUSG00000026311
AA Change: L42P

Domain	Start	End	E-Value	Type
ANK	29	61	2.43e1	SMART
ANK	70	99	7.48e0	SMART
ANK	103	132	3.01e-4	SMART
ANK	136	165	9.78e-4	SMART
ANK	188	213	2.25e2	SMART
Blast:ANK	227	258	2e-11	BLAST
SOCS_box	289	328	6.36e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185718

Predicted Effect

probably damaging
Transcript: ENSMUST00000186068
AA Change: L42P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140225
Gene: ENSMUSG00000026311
AA Change: L42P

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Blast:ANK	37	70	1e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000188081
AA Change: L34P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140165
Gene: ENSMUSG00000026311
AA Change: L34P

Domain	Start	End	E-Value	Type
ANK	29	61	1.5e-1	SMART
ANK	70	99	4.7e-2	SMART
ANK	103	132	1.9e-6	SMART
ANK	136	165	6.3e-6	SMART
ANK	188	213	1.4e0	SMART
Blast:ANK	227	258	1e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000188879
AA Change: L34P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140731
Gene: ENSMUSG00000026311
AA Change: L34P

Domain	Start	End	E-Value	Type
ANK	29	61	2.43e1	SMART
ANK	70	99	7.48e0	SMART
ANK	103	132	3.01e-4	SMART
ANK	136	165	9.78e-4	SMART
ANK	188	213	2.25e2	SMART
Blast:ANK	227	258	2e-11	BLAST
SOCS_box	289	328	6.36e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000190484
AA Change: L42P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140281
Gene: ENSMUSG00000026311
AA Change: L42P

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
ANK	37	72	1.17e2	SMART
ANK	95	120	2.25e2	SMART
Blast:ANK	134	165	3e-12	BLAST
Pfam:SOCS_box	196	218	2.2e-6	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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 contains an 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, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutation of this gene results in spleen hypocellularity, decreased spermatogenesis, and thickening of the skin in male animals. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	C	A	12: 84,655,790 (GRCm39)	G295*	probably null	Het
Acad9	T	C	3: 36,128,525 (GRCm39)	Y129H	probably damaging	Het
Actn4	C	T	7: 28,597,549 (GRCm39)	G608D	probably benign	Het
Adcyap1r1	T	A	6: 55,458,100 (GRCm39)	N300K	probably damaging	Het
Adh5	A	G	3: 138,157,245 (GRCm39)	I269V	probably benign	Het
Afap1l2	G	A	19: 56,901,821 (GRCm39)	A842V	possibly damaging	Het
AI429214	A	T	8: 37,461,154 (GRCm39)	K101*	probably null	Het
Alg10b	T	A	15: 90,109,860 (GRCm39)	W58R	probably damaging	Het
Alpk2	C	T	18: 65,438,754 (GRCm39)	E1347K	probably benign	Het
Amotl2	G	T	9: 102,601,922 (GRCm39)	E389*	probably null	Het
Ap5m1	G	A	14: 49,323,705 (GRCm39)	R465Q	probably damaging	Het
Apoa1	A	C	9: 46,140,512 (GRCm39)	S48R	probably damaging	Het
Atg14	C	T	14: 47,788,781 (GRCm39)	A191T	probably damaging	Het
Atp13a4	C	T	16: 29,260,102 (GRCm39)	V235I	possibly damaging	Het
Atrnl1	C	T	19: 57,744,048 (GRCm39)	Q1217*	probably null	Het
Bltp2	T	C	11: 78,159,598 (GRCm39)	V549A	probably benign	Het
Bsn	A	T	9: 107,992,085 (GRCm39)	H1222Q	probably benign	Het
Catsper4	A	T	4: 133,945,552 (GRCm39)	V169E	probably damaging	Het
Cbx4	C	T	11: 118,972,718 (GRCm39)	G219E	probably damaging	Het
Ccdc136	C	T	6: 29,413,031 (GRCm39)	T406I	possibly damaging	Het
Celsr3	A	T	9: 108,715,669 (GRCm39)	Y2117F	probably damaging	Het
Cenpf	T	A	1: 189,411,299 (GRCm39)	Q295L	probably damaging	Het
Ces1b	A	G	8: 93,794,783 (GRCm39)	V272A	probably benign	Het
Cgn	A	T	3: 94,687,116 (GRCm39)	V62D	probably damaging	Het
Ckap4	T	G	10: 84,369,387 (GRCm39)	Q115P	possibly damaging	Het
Clec10a	T	C	11: 70,060,650 (GRCm39)		probably null	Het
Clmn	A	T	12: 104,747,067 (GRCm39)	S827T	probably benign	Het
Cntn4	T	C	6: 106,466,658 (GRCm39)	S187P	probably damaging	Het
Cntnap5a	A	T	1: 116,116,095 (GRCm39)	I526F	probably damaging	Het
Cntnap5b	A	G	1: 100,202,140 (GRCm39)	Q329R	probably benign	Het
Col1a1	T	A	11: 94,839,188 (GRCm39)	S979T	unknown	Het
Crat	T	A	2: 30,292,654 (GRCm39)	Y606F	probably benign	Het
Cyp2c29	G	T	19: 39,318,708 (GRCm39)	C396F	probably damaging	Het
Cyp2d34	G	T	15: 82,501,817 (GRCm39)	P231Q	probably damaging	Het
Ddi2	A	T	4: 141,430,591 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,679,473 (GRCm39)	H501Q	probably damaging	Het
Dnah12	A	G	14: 26,488,098 (GRCm39)	I1001V	probably damaging	Het
Dnase2a	T	A	8: 85,637,500 (GRCm39)	C301S	probably damaging	Het
Dock10	T	A	1: 80,584,280 (GRCm39)	D142V	probably damaging	Het
Dpp8	G	A	9: 64,971,150 (GRCm39)	C590Y	probably benign	Het
Dst	T	A	1: 34,314,317 (GRCm39)	M6707K	probably damaging	Het
Duox1	T	C	2: 122,167,735 (GRCm39)	V1006A	probably benign	Het
Dync1h1	T	C	12: 110,596,420 (GRCm39)	S1623P	probably damaging	Het
Ehmt1	A	T	2: 24,694,015 (GRCm39)	D1011E	probably damaging	Het
Epc2	T	A	2: 49,422,235 (GRCm39)	D376E	probably benign	Het
Eps8	C	A	6: 137,514,633 (GRCm39)		probably null	Het
F11	T	C	8: 45,699,869 (GRCm39)	T406A	probably benign	Het
Fat3	T	G	9: 15,911,082 (GRCm39)	D1640A	probably damaging	Het
Fbxo15	A	T	18: 84,977,230 (GRCm39)	R47S	probably benign	Het
Fbxo28	A	T	1: 182,157,490 (GRCm39)	V109E	probably damaging	Het
Fn1	A	T	1: 71,665,323 (GRCm39)	S931R	probably damaging	Het
Fndc3b	T	C	3: 27,697,185 (GRCm39)	D9G	probably damaging	Het
Frem2	G	A	3: 53,560,343 (GRCm39)	T1388I	probably damaging	Het
Fstl3	C	A	10: 79,617,012 (GRCm39)	T185N	probably damaging	Het
Glo1	A	T	17: 30,823,014 (GRCm39)	Y49*	probably null	Het
Gtsf2	T	C	15: 103,348,100 (GRCm39)	M137V	probably benign	Het
Gzmk	C	T	13: 113,310,489 (GRCm39)	G110S	probably benign	Het
Hdac9	G	T	12: 34,439,331 (GRCm39)	S428R	probably damaging	Het
Hnrnpul1	G	A	7: 25,432,694 (GRCm39)	T456I	possibly damaging	Het
Ino80	T	A	2: 119,284,565 (GRCm39)	H172L	probably damaging	Het
Itgb8	A	C	12: 119,154,347 (GRCm39)	L230R	probably damaging	Het
Klf9	C	T	19: 23,142,052 (GRCm39)	R171W	probably damaging	Het
Kmt2b	G	T	7: 30,282,812 (GRCm39)	P1050Q	probably damaging	Het
Krt15	A	T	11: 100,026,484 (GRCm39)	F67L	unknown	Het
Maml3	T	A	3: 51,598,077 (GRCm39)	Y223F	probably damaging	Het
Mcm9	C	T	10: 53,491,943 (GRCm39)		probably null	Het
Mettl3	A	G	14: 52,532,441 (GRCm39)	*104Q	probably null	Het
Msrb3	T	A	10: 120,687,985 (GRCm39)	D30V	possibly damaging	Het
Mycbp2	T	C	14: 103,457,512 (GRCm39)	T1562A	probably damaging	Het
Nat14	T	C	7: 4,927,038 (GRCm39)	V70A	possibly damaging	Het
Nbeal2	T	C	9: 110,454,474 (GRCm39)	T2685A	probably damaging	Het
Nek1	A	G	8: 61,469,327 (GRCm39)	D128G	probably damaging	Het
Nfam1	T	A	15: 82,899,202 (GRCm39)	K155*	probably null	Het
Noc4l	A	T	5: 110,798,425 (GRCm39)	M255K	possibly damaging	Het
Nolc1	GCA	GCAACA	19: 46,069,800 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGGAG	19: 46,069,798 (GRCm39)		probably benign	Het
Nprl2	T	C	9: 107,422,511 (GRCm39)	S334P	probably benign	Het
Nsrp1	A	G	11: 76,937,396 (GRCm39)	S267P	probably benign	Het
Ntn4	A	T	10: 93,480,701 (GRCm39)	M142L	probably damaging	Het
Nup188	T	A	2: 30,194,113 (GRCm39)	C139*	probably null	Het
Nup210l	A	T	3: 90,098,281 (GRCm39)	N1411I	possibly damaging	Het
Or10g1	A	G	14: 52,647,753 (GRCm39)	L192P	probably damaging	Het
Or5ak24	T	G	2: 85,260,430 (GRCm39)	T248P	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Pcnx3	G	T	19: 5,721,584 (GRCm39)	D1071E	possibly damaging	Het
Pi4k2a	T	A	19: 42,103,510 (GRCm39)	I340N	possibly damaging	Het
Pkdrej	T	A	15: 85,703,185 (GRCm39)	D917V	probably damaging	Het
Plekhg4	T	A	8: 106,106,066 (GRCm39)	F821Y	probably damaging	Het
Ptgfrn	C	T	3: 100,984,625 (GRCm39)	R189H	probably benign	Het
Ptpn18	T	A	1: 34,510,742 (GRCm39)	S235R	probably damaging	Het
Rabep2	A	G	7: 126,044,460 (GRCm39)		probably null	Het
Rbp3	T	G	14: 33,678,014 (GRCm39)	I654S	probably benign	Het
Rimbp3	T	C	16: 17,027,539 (GRCm39)	L321P	probably benign	Het
Rims2	T	A	15: 39,374,722 (GRCm39)	M1028K	probably benign	Het
Ruvbl1	T	A	6: 88,460,003 (GRCm39)	V221D	probably damaging	Het
Ruvbl2	A	T	7: 45,073,527 (GRCm39)		probably null	Het
Scn7a	C	T	2: 66,506,312 (GRCm39)	D1526N	probably damaging	Het
Scnn1a	T	C	6: 125,314,774 (GRCm39)	F218S	possibly damaging	Het
Sh3tc2	T	A	18: 62,146,176 (GRCm39)	M1185K	probably damaging	Het
Slain1	C	A	14: 103,888,282 (GRCm39)	D67E	possibly damaging	Het
Snx33	T	C	9: 56,833,724 (GRCm39)	D115G	probably benign	Het
Sowaha	G	A	11: 53,369,789 (GRCm39)	R316C	probably damaging	Het
Spata17	A	T	1: 186,830,108 (GRCm39)	F309I	possibly damaging	Het
Spmip7	G	A	11: 11,440,293 (GRCm39)		probably null	Het
Ssrp1	G	T	2: 84,873,350 (GRCm39)		probably null	Het
St6gal1	C	G	16: 23,147,167 (GRCm39)	T225S	probably damaging	Het
Sulf1	C	G	1: 12,918,398 (GRCm39)	F38L	probably damaging	Het
Tbc1d7	G	A	13: 43,306,562 (GRCm39)	T138M	probably damaging	Het
Tdpoz4	T	A	3: 93,704,351 (GRCm39)	M216K	probably damaging	Het
Tmem200a	A	G	10: 25,869,220 (GRCm39)	S350P	probably damaging	Het
Tnpo3	A	T	6: 29,551,871 (GRCm39)	D903E	probably benign	Het
Trpc4ap	A	T	2: 155,499,856 (GRCm39)	I222N	probably damaging	Het
Trrap	T	A	5: 144,781,021 (GRCm39)	Y3261N	probably damaging	Het
Ttn	A	G	2: 76,542,954 (GRCm39)	V33344A	possibly damaging	Het
Uchl4	A	T	9: 64,142,818 (GRCm39)	T100S	probably damaging	Het
Uxs1	A	G	1: 43,810,933 (GRCm39)	Y97H	probably damaging	Het
Vmn1r192	A	T	13: 22,371,800 (GRCm39)	V140D	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r7	A	G	3: 64,599,025 (GRCm39)	S511P	possibly damaging	Het
Vmn2r88	T	C	14: 51,655,651 (GRCm39)	L621P	probably damaging	Het
Vps45	A	T	3: 95,954,365 (GRCm39)	M174K	probably benign	Het
Wdr72	A	T	9: 74,052,454 (GRCm39)	M162L	probably benign	Het
Wdr81	T	A	11: 75,344,461 (GRCm39)	M269L	probably benign	Het
Zfp53	A	G	17: 21,728,713 (GRCm39)	T249A	probably benign	Het
Zfp758	T	C	17: 22,580,626 (GRCm39)	S22P	probably benign	Het
Zfp780b	T	C	7: 27,663,298 (GRCm39)	D419G	possibly damaging	Het
Zfp934	A	T	13: 62,666,507 (GRCm39)	Y45N	probably damaging	Het

Other mutations in Asb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Asb1	APN	1	91,479,846 (GRCm39)	missense	probably damaging	0.99
IGL01748:Asb1	APN	1	91,480,008 (GRCm39)	missense	probably damaging	1.00
IGL02670:Asb1	APN	1	91,474,640 (GRCm39)	intron	probably benign
R1897:Asb1	UTSW	1	91,474,647 (GRCm39)	splice site	probably null
R4803:Asb1	UTSW	1	91,480,051 (GRCm39)	missense	probably damaging	1.00
R5086:Asb1	UTSW	1	91,482,533 (GRCm39)	missense	probably benign	0.00
R5103:Asb1	UTSW	1	91,480,066 (GRCm39)	missense	possibly damaging	0.87
R5301:Asb1	UTSW	1	91,482,475 (GRCm39)	missense	probably damaging	0.97
R6039:Asb1	UTSW	1	91,474,748 (GRCm39)	missense	probably damaging	1.00
R6039:Asb1	UTSW	1	91,474,748 (GRCm39)	missense	probably damaging	1.00
R8552:Asb1	UTSW	1	91,480,078 (GRCm39)	missense	probably damaging	1.00
R9009:Asb1	UTSW	1	91,480,206 (GRCm39)	makesense	probably null
R9009:Asb1	UTSW	1	91,480,205 (GRCm39)	missense	unknown
R9013:Asb1	UTSW	1	91,480,163 (GRCm39)	critical splice donor site	probably null
R9213:Asb1	UTSW	1	91,482,531 (GRCm39)	missense	probably damaging	1.00
R9253:Asb1	UTSW	1	91,468,551 (GRCm39)	missense	unknown
R9286:Asb1	UTSW	1	91,480,150 (GRCm39)	missense	probably benign	0.00
R9643:Asb1	UTSW	1	91,480,116 (GRCm39)	missense	probably benign
R9689:Asb1	UTSW	1	91,474,708 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTGTTCAACAGACCATCAC -3'
(R):5'- AGTCCTGCAGCATCAGAGTC -3'

Sequencing Primer
(F):5'- TCAGGAATGTGCTAGTTTAAAAAGG -3'
(R):5'- CAGAGTCTTGTTCTGCAATCCAAAGC -3'

Posted On

2014-09-18