Mutagenetix > Incidental Mutation

Incidental Mutation 'R7165:Asb3'

557884

Institutional Source

Beutler Lab

Gene Symbol

Asb3

Ensembl Gene

ENSMUSG00000020305

Gene Name

ankyrin repeat and SOCS box-containing 3

Synonyms

2400011J03Rik

MMRRC Submission

045262-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R7165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30904398-31052704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30979029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 106 (N106K)

Ref Sequence

ENSEMBL: ENSMUSP00000020551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020551] [ENSMUST00000117883] [ENSMUST00000137306] [ENSMUST00000203878]

AlphaFold

Q9WV72

Predicted Effect

probably damaging
Transcript: ENSMUST00000020551
AA Change: N106K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: N106K

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	1.23e0	SMART
ANK	78	107	7.3e-3	SMART
ANK	111	140	2.66e-5	SMART
ANK	145	174	2.73e-2	SMART
ANK	178	207	2.81e-4	SMART
ANK	211	240	1.88e-5	SMART
ANK	246	276	1.6e2	SMART
ANK	279	308	1.9e-1	SMART
ANK	315	346	1.17e2	SMART
SOCS_box	460	502	2.1e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117883
AA Change: N106K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
AA Change: N106K

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	1.23e0	SMART
ANK	78	107	7.3e-3	SMART
ANK	111	140	2.66e-5	SMART
ANK	145	174	2.73e-2	SMART
ANK	178	207	2.81e-4	SMART
ANK	211	240	1.88e-5	SMART
ANK	246	276	1.6e2	SMART
ANK	279	308	1.9e-1	SMART
ANK	315	346	1.17e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137306

SMART Domains

Protein: ENSMUSP00000114692
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	4.3e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203878
AA Change: N145K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: N145K

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
ANK	48	77	3.5e-2	SMART
ANK	81	110	8e-3	SMART
ANK	117	146	4.8e-5	SMART
ANK	150	179	1.7e-7	SMART
ANK	184	213	1.8e-4	SMART
ANK	217	246	1.8e-6	SMART
ANK	250	279	1.2e-7	SMART
ANK	285	315	1.1e0	SMART
ANK	318	347	1.2e-3	SMART
ANK	354	385	7.7e-1	SMART
SOCS	493	542	2.8e-4	SMART
SOCS_box	499	541	1.6e-17	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	C	A	2: 127,965,028 (GRCm39)	A624E	probably benign	Het
Adnp	A	G	2: 168,024,287 (GRCm39)	S1003P	probably benign	Het
Akap8l	T	C	17: 32,557,386 (GRCm39)	D75G	probably damaging	Het
Ap4e1	A	T	2: 126,905,238 (GRCm39)	T970S	possibly damaging	Het
Atp1a3	T	C	7: 24,678,390 (GRCm39)	I988V	probably benign	Het
Camta1	A	G	4: 151,169,157 (GRCm39)	L198S	possibly damaging	Het
Ccdc77	A	G	6: 120,327,193 (GRCm39)	L84P	probably damaging	Het
Ccne1	C	T	7: 37,798,726 (GRCm39)	A298T	probably damaging	Het
Cdc42bpb	T	A	12: 111,287,951 (GRCm39)	E532V	probably damaging	Het
Clasp2	G	A	9: 113,615,467 (GRCm39)		probably null	Het
Cntnap5b	C	A	1: 100,003,887 (GRCm39)	T289N	possibly damaging	Het
Dcun1d4	A	G	5: 73,648,538 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,100 (GRCm39)	T2296A	probably benign	Het
Dnaja4	A	T	9: 54,616,516 (GRCm39)	Q173L	probably damaging	Het
Dync2h1	G	A	9: 7,050,479 (GRCm39)	A3190V	probably benign	Het
Frrs1	T	A	3: 116,671,920 (GRCm39)	I6N	probably benign	Het
Fscn1	T	C	5: 142,957,801 (GRCm39)	V477A	probably benign	Het
Fsip2	G	A	2: 82,811,541 (GRCm39)	G2620E	possibly damaging	Het
Glp1r	C	T	17: 31,128,297 (GRCm39)	A92V	probably benign	Het
Gpr137b	A	T	13: 13,542,205 (GRCm39)	M204K	probably damaging	Het
Gstm1	A	G	3: 107,923,693 (GRCm39)	V104A	probably benign	Het
Gtf2e1	A	T	16: 37,356,228 (GRCm39)	N101K	probably damaging	Het
Igsf9b	T	C	9: 27,245,536 (GRCm39)	F1168L	probably benign	Het
Itpr2	A	T	6: 146,195,589 (GRCm39)	V1629E	probably damaging	Het
Kat14	A	G	2: 144,235,918 (GRCm39)	T428A	probably benign	Het
Kif21b	T	C	1: 136,077,186 (GRCm39)	Y403H	probably damaging	Het
Lpcat1	G	C	13: 73,662,649 (GRCm39)	A533P	probably benign	Het
Lrp2	A	T	2: 69,336,917 (GRCm39)	I1285N	probably damaging	Het
Mboat1	A	T	13: 30,408,398 (GRCm39)	Y187F	probably damaging	Het
Mkx	T	C	18: 7,002,525 (GRCm39)	N7S	probably damaging	Het
Mrps27	A	T	13: 99,551,307 (GRCm39)	T357S	possibly damaging	Het
Muc21	A	G	17: 35,932,870 (GRCm39)	S439P	unknown	Het
Naa35	A	G	13: 59,733,997 (GRCm39)	D9G	probably benign	Het
Ncoa4	T	A	14: 31,897,940 (GRCm39)	N253K	probably damaging	Het
Neb	A	G	2: 52,160,318 (GRCm39)	Y2232H	probably damaging	Het
Nlk	G	A	11: 78,481,793 (GRCm39)	Q223*	probably null	Het
Npas2	T	A	1: 39,331,798 (GRCm39)	I71N	possibly damaging	Het
Nup107	T	A	10: 117,609,267 (GRCm39)	Q364L	probably damaging	Het
Or8g17	T	A	9: 38,934,566 (GRCm39)		probably benign	Het
Otof	C	T	5: 30,532,964 (GRCm39)	G1593S	probably damaging	Het
Panx3	G	T	9: 37,575,381 (GRCm39)	H160Q	probably damaging	Het
Pappa	T	A	4: 65,180,110 (GRCm39)	H990Q	probably damaging	Het
Pax4	G	A	6: 28,446,136 (GRCm39)	P119L	probably damaging	Het
Pcdhb20	T	A	18: 37,638,123 (GRCm39)	D216E	probably damaging	Het
Pcdhgb8	T	A	18: 37,896,231 (GRCm39)	S434T	possibly damaging	Het
Pf4	T	C	5: 90,920,448 (GRCm39)	V3A	probably benign	Het
Phf24	T	C	4: 42,938,325 (GRCm39)	S229P	probably benign	Het
Plcd3	A	G	11: 102,970,439 (GRCm39)	F200S	probably damaging	Het
Ppp1r16a	A	G	15: 76,575,104 (GRCm39)	H4R	probably damaging	Het
Pramel15	A	G	4: 144,099,389 (GRCm39)	C459R	probably damaging	Het
Prdm10	A	G	9: 31,227,738 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,667,474 (GRCm39)		probably null	Het
Prkg1	T	A	19: 30,562,599 (GRCm39)	H550L	probably damaging	Het
Prrc2c	G	T	1: 162,501,086 (GRCm39)	T2809N	possibly damaging	Het
Ptx3	A	G	3: 66,132,391 (GRCm39)	E304G	probably benign	Het
Ralgps2	A	G	1: 156,655,818 (GRCm39)	F369L	probably benign	Het
Rasgrp1	G	A	2: 117,168,885 (GRCm39)	T31I	probably benign	Het
Rbsn	A	T	6: 92,168,315 (GRCm39)	M373K	probably benign	Het
Rnf168	C	G	16: 32,101,179 (GRCm39)	R120G	probably benign	Het
Rp1	A	G	1: 4,420,140 (GRCm39)	I324T	probably damaging	Het
Samd11	T	C	4: 156,336,747 (GRCm39)	S31G	probably benign	Het
Sart3	A	T	5: 113,884,056 (GRCm39)	L652Q	probably benign	Het
Scrn2	A	G	11: 96,924,634 (GRCm39)	E421G	probably benign	Het
Sik2	A	T	9: 50,828,397 (GRCm39)	L215Q	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,534,639 (GRCm39)	K3632M	probably damaging	Het
Swt1	A	T	1: 151,264,428 (GRCm39)	D695E	probably damaging	Het
Tead3	T	A	17: 28,552,228 (GRCm39)	M357L	probably benign	Het
Tgfbi	A	T	13: 56,775,829 (GRCm39)	T292S	probably damaging	Het
Tmc7	T	C	7: 118,155,157 (GRCm39)	H247R	probably benign	Het
Trmt10b	T	A	4: 45,308,549 (GRCm39)	D236E	probably damaging	Het
Tshz1	C	A	18: 84,034,052 (GRCm39)	V119L	probably damaging	Het
Ttn	A	C	2: 76,658,258 (GRCm39)	V12374G	unknown	Het
Tubgcp2	A	G	7: 139,585,274 (GRCm39)	Y484H	probably damaging	Het
Ubr4	G	C	4: 139,177,824 (GRCm39)	A1947P		Het
Uggt1	A	C	1: 36,194,188 (GRCm39)	V1350G	probably benign	Het
Vmn1r173	A	T	7: 23,402,076 (GRCm39)	M104L	probably benign	Het
Xirp1	A	T	9: 119,848,113 (GRCm39)	C257S	probably damaging	Het
Zfyve26	A	G	12: 79,327,179 (GRCm39)	S724P	probably damaging	Het
Zmpste24	A	T	4: 120,940,091 (GRCm39)	L185Q	probably null	Het
Zpld1	G	A	16: 55,052,594 (GRCm39)	A340V	probably benign	Het

Other mutations in Asb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02879:Asb3	APN	11	31,051,067 (GRCm39)	missense	probably damaging	1.00
IGL02932:Asb3	APN	11	30,979,067 (GRCm39)	critical splice donor site	probably null
Kickbox	UTSW	11	30,948,326 (GRCm39)	missense	probably damaging	1.00
low_blow	UTSW	11	30,948,348 (GRCm39)	nonsense	probably null
Octagon	UTSW	11	30,948,321 (GRCm39)	missense	probably benign	0.34
penalty	UTSW	11	31,031,357 (GRCm39)	splice site	probably null
sixpack	UTSW	11	31,035,143 (GRCm39)	missense	probably benign
R0573:Asb3	UTSW	11	31,011,406 (GRCm39)	missense	probably damaging	0.99
R1395:Asb3	UTSW	11	31,051,032 (GRCm39)	splice site	probably benign
R1545:Asb3	UTSW	11	31,006,217 (GRCm39)	missense	probably benign	0.00
R2108:Asb3	UTSW	11	31,031,355 (GRCm39)	splice site	probably null
R2364:Asb3	UTSW	11	31,051,192 (GRCm39)	missense	probably benign	0.01
R4527:Asb3	UTSW	11	31,008,933 (GRCm39)	missense	probably benign	0.30
R5019:Asb3	UTSW	11	31,031,415 (GRCm39)	missense	possibly damaging	0.95
R5176:Asb3	UTSW	11	31,031,357 (GRCm39)	splice site	probably null
R5344:Asb3	UTSW	11	31,051,114 (GRCm39)	missense	probably benign	0.01
R5734:Asb3	UTSW	11	30,979,021 (GRCm39)	missense	probably damaging	1.00
R6251:Asb3	UTSW	11	31,005,559 (GRCm39)	missense	probably damaging	1.00
R6265:Asb3	UTSW	11	31,035,143 (GRCm39)	missense	probably benign
R6747:Asb3	UTSW	11	31,031,493 (GRCm39)	missense	probably benign	0.01
R6827:Asb3	UTSW	11	31,051,211 (GRCm39)	missense	probably benign	0.00
R6928:Asb3	UTSW	11	30,948,326 (GRCm39)	missense	probably damaging	1.00
R7048:Asb3	UTSW	11	31,051,121 (GRCm39)	missense	probably damaging	1.00
R7087:Asb3	UTSW	11	30,948,321 (GRCm39)	missense	probably benign	0.34
R7135:Asb3	UTSW	11	30,948,501 (GRCm39)	nonsense	probably null
R7200:Asb3	UTSW	11	30,948,348 (GRCm39)	nonsense	probably null
R7265:Asb3	UTSW	11	30,948,495 (GRCm39)	missense	probably benign	0.02
R7509:Asb3	UTSW	11	30,948,507 (GRCm39)	missense	probably benign	0.12
R7674:Asb3	UTSW	11	31,031,435 (GRCm39)	missense	possibly damaging	0.92
R8029:Asb3	UTSW	11	31,051,180 (GRCm39)	nonsense	probably null
R8034:Asb3	UTSW	11	31,031,554 (GRCm39)	nonsense	probably null
R8061:Asb3	UTSW	11	30,948,447 (GRCm39)	missense	probably damaging	1.00
R8724:Asb3	UTSW	11	31,051,120 (GRCm39)	missense	probably damaging	1.00
R8952:Asb3	UTSW	11	31,008,959 (GRCm39)	missense	probably damaging	1.00
R9310:Asb3	UTSW	11	30,978,962 (GRCm39)	missense	probably benign	0.34
R9381:Asb3	UTSW	11	31,051,088 (GRCm39)	missense	probably damaging	1.00
R9708:Asb3	UTSW	11	31,051,075 (GRCm39)	missense	probably benign	0.03
R9711:Asb3	UTSW	11	31,031,400 (GRCm39)	missense	probably damaging	1.00
R9716:Asb3	UTSW	11	31,031,460 (GRCm39)	missense	probably benign	0.03
R9747:Asb3	UTSW	11	31,008,946 (GRCm39)	missense	possibly damaging	0.69
RF016:Asb3	UTSW	11	31,011,407 (GRCm39)	missense	possibly damaging	0.95
X0024:Asb3	UTSW	11	31,008,950 (GRCm39)	missense	probably damaging	0.97
Z1177:Asb3	UTSW	11	31,008,965 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CATGCCCAAGAAGTAGGACTG -3'
(R):5'- GTGCACAATGGGTTTTGCAGC -3'

Sequencing Primer
(F):5'- TGCCCAAGAAGTAGGACTGATAATC -3'
(R):5'- ATTTTCAAGTCCCAAATACTACTACC -3'

Posted On

2019-06-26