Mutagenetix > Incidental Mutation

Incidental Mutation 'R6920:Anks4b'

539579

Institutional Source

Beutler Lab

Gene Symbol

Anks4b

Ensembl Gene

ENSMUSG00000030909

Gene Name

ankyrin repeat and sterile alpha motif domain containing 4B

Synonyms

2010013E14Rik, Harp

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120173858-120185586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120183008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 421 (T421S)

Ref Sequence

ENSEMBL: ENSMUSP00000033201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033198] [ENSMUST00000033201]

AlphaFold

Q8K3X6

Predicted Effect

probably benign
Transcript: ENSMUST00000033198

SMART Domains

Protein: ENSMUSP00000033198
Gene: ENSMUSG00000030905

Domain	Start	End	E-Value	Type
Pfam:OCD_Mu_crystall	3	313	7.1e-113	PFAM
Pfam:Shikimate_DH	124	227	7.1e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000033201
AA Change: T421S

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

SMART Domains

Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909
AA Change: T421S

Domain	Start	End	E-Value	Type
ANK	31	60	1.03e-2	SMART
ANK	64	93	6.3e-7	SMART
ANK	97	126	3.69e2	SMART
coiled coil region	131	165	N/A	INTRINSIC
low complexity region	170	189	N/A	INTRINSIC
coiled coil region	303	335	N/A	INTRINSIC
SAM	346	411	6.52e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,068,050	Y1000F	probably damaging	Het
1700018B08Rik	A	G	8: 121,535,421		probably null	Het
Aadat	T	C	8: 60,529,433	F245L	probably damaging	Het
Adcy10	T	G	1: 165,575,658	L1575W	probably damaging	Het
Anpep	A	T	7: 79,825,349	I155N	probably damaging	Het
Arnt	T	C	3: 95,490,621	F572L	probably damaging	Het
Brip1	G	A	11: 86,148,536	Q391*	probably null	Het
Brpf3	C	A	17: 28,823,996	H1004N	probably benign	Het
Cand2	T	A	6: 115,791,289	V465D	possibly damaging	Het
Card10	G	T	15: 78,802,409	Y69*	probably null	Het
Catsperd	A	T	17: 56,655,175	K450*	probably null	Het
Ccdc137	T	C	11: 120,460,183	L137P	probably damaging	Het
Cic	T	C	7: 25,290,682	S1905P	probably damaging	Het
Csmd3	C	T	15: 47,644,205	G2971S	probably damaging	Het
Dmxl2	A	G	9: 54,472,212	Y183H	probably damaging	Het
Drosha	T	C	15: 12,834,310	Y167H	unknown	Het
E330034G19Rik	A	G	14: 24,308,242	K214R	unknown	Het
Fam180a	T	G	6: 35,313,830	I73L	possibly damaging	Het
Fbxo28	G	T	1: 182,341,421	H51N	probably benign	Het
Gm12728	T	G	4: 105,790,336		probably null	Het
Gm973	T	C	1: 59,552,461	C335R	possibly damaging	Het
Gpx8	A	G	13: 113,043,236	V177A	probably damaging	Het
Hdlbp	A	G	1: 93,412,361		probably null	Het
Htt	T	G	5: 34,877,100	Y1972D	probably null	Het
Igkv6-14	T	C	6: 70,435,132	Y56C	possibly damaging	Het
Kcnma1	A	G	14: 23,526,534		probably null	Het
Klc1	T	C	12: 111,787,585	S105P	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lamc3	A	G	2: 31,908,689	D469G	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Mboat4	G	A	8: 34,124,711	R434H	probably benign	Het
Mttp	T	C	3: 138,115,282	K270E	possibly damaging	Het
Muc5ac	G	A	7: 141,793,298	C337Y	possibly damaging	Het
Nars	A	G	18: 64,501,400	V484A	probably damaging	Het
Noxa1	G	T	2: 25,091,832		probably null	Het
Olfr297	A	G	7: 86,527,314	T186A	probably benign	Het
Olfr830	T	A	9: 18,875,525	L63H	probably damaging	Het
Osbpl7	G	A	11: 97,050,758	G36S	probably damaging	Het
P4htm	C	T	9: 108,583,613	G220D	probably benign	Het
Pcdhga7	A	G	18: 37,715,146	I69V	probably benign	Het
Pla2g4e	C	T	2: 120,185,314	E250K	possibly damaging	Het
Plcd4	A	G	1: 74,565,835		probably benign	Het
Ppfia3	C	A	7: 45,358,807	G213V	possibly damaging	Het
Ppp1r1a	A	G	15: 103,533,086	S67P	probably damaging	Het
Prss43	T	C	9: 110,828,612	F193S	probably benign	Het
Rfx1	A	G	8: 84,095,488	Y872C	probably damaging	Het
Rhot1	T	A	11: 80,242,095	N218K	probably benign	Het
Sall1	A	G	8: 89,030,393	F1028L	probably damaging	Het
Siglec1	G	A	2: 131,078,077	Q845*	probably null	Het
Slc38a9	C	T	13: 112,701,526	T275I	possibly damaging	Het
Slc39a4	A	T	15: 76,613,270	S481T	probably damaging	Het
Ssr1	A	T	13: 37,986,022	N191K	probably damaging	Het
Tenm4	A	T	7: 96,895,550	S2258C	probably damaging	Het
Tm7sf3	T	G	6: 146,606,147	R472S	possibly damaging	Het
Tmprss11a	G	A	5: 86,428,635	T119M	probably benign	Het
Traip	C	T	9: 107,961,041	R142*	probably null	Het
Utrn	T	C	10: 12,750,470	N100D	probably damaging	Het
Vmn1r74	T	C	7: 11,847,648	S292P	probably benign	Het
Vmn2r71	A	T	7: 85,623,900	I641F	probably damaging	Het
Vmn2r9	T	A	5: 108,849,046	Y119F	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,248	N110S	probably damaging	Het
Vwce	A	G	19: 10,664,693	T928A	probably benign	Het
Zfp608	T	A	18: 54,988,265	K83N	probably damaging	Het
Zfp808	A	G	13: 62,173,168	H737R	probably benign	Het
Zswim4	T	C	8: 84,214,085	N795S	probably benign	Het

Other mutations in Anks4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Anks4b	APN	7	120173925	missense	possibly damaging	0.69
IGL01830:Anks4b	APN	7	120173996	missense	probably damaging	1.00
IGL02490:Anks4b	APN	7	120174018	missense	probably damaging	1.00
IGL02820:Anks4b	APN	7	120182691	unclassified	probably benign
IGL03074:Anks4b	APN	7	120181917	missense	probably damaging	1.00
R0383:Anks4b	UTSW	7	120182874	missense	probably damaging	1.00
R0747:Anks4b	UTSW	7	120182163	missense	probably damaging	0.96
R1125:Anks4b	UTSW	7	120182357	missense	possibly damaging	0.66
R1192:Anks4b	UTSW	7	120174066	missense	probably benign	0.02
R3079:Anks4b	UTSW	7	120181923	missense	probably damaging	1.00
R3080:Anks4b	UTSW	7	120181923	missense	probably damaging	1.00
R5542:Anks4b	UTSW	7	120182423	nonsense	probably null
R5954:Anks4b	UTSW	7	120182173	missense	possibly damaging	0.92
R6001:Anks4b	UTSW	7	120182718	missense	probably benign	0.30
R7921:Anks4b	UTSW	7	120182769	missense	probably benign	0.12
R7946:Anks4b	UTSW	7	120182484	missense	probably benign	0.00
R7966:Anks4b	UTSW	7	120182700	missense	probably benign	0.00
R8755:Anks4b	UTSW	7	120174084	critical splice donor site	probably null
R9259:Anks4b	UTSW	7	120174055	missense	probably benign	0.04
Z1088:Anks4b	UTSW	7	120182519	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTCAGCACCTGGAGGAATTC -3'
(R):5'- AAGGTCTCCCAAGGTCTTTTC -3'

Sequencing Primer
(F):5'- CCTTCCCATTTTTATGAGAGAACAG -3'
(R):5'- CCAAGGTCTTTTCTCATTGATGG -3'

Posted On

2018-11-06