Mutagenetix > Incidental Mutation

Incidental Mutation 'R6077:Ankrd7'

482786

Institutional Source

Beutler Lab

Gene Symbol

Ankrd7

Ensembl Gene

ENSMUSG00000029517

Gene Name

ankyrin repeat domain 7

Synonyms

4930532L20Rik

MMRRC Submission

044238-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6077 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18866317-18879585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18868071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 112 (S112R)

Ref Sequence

ENSEMBL: ENSMUSP00000031489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031489] [ENSMUST00000115396]

AlphaFold

Q9D504

Predicted Effect

probably benign
Transcript: ENSMUST00000031489
AA Change: S112R

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031489
Gene: ENSMUSG00000029517
AA Change: S112R

Domain	Start	End	E-Value	Type
low complexity region	46	55	N/A	INTRINSIC
ANK	80	109	1.06e-4	SMART
ANK	113	142	5.45e-2	SMART
ANK	146	175	6.92e-4	SMART
ANK	179	208	1.94e-7	SMART
ANK	212	241	1.99e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115396
AA Change: S112R

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111054
Gene: ENSMUSG00000029517
AA Change: S112R

Domain	Start	End	E-Value	Type
low complexity region	46	55	N/A	INTRINSIC
ANK	80	109	1.06e-4	SMART
ANK	113	143	3.07e2	SMART
ANK	147	176	6.92e-4	SMART
ANK	180	209	1.94e-7	SMART
ANK	213	242	1.99e2	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	T	11: 100,410,583 (GRCm39)	V132I	probably benign	Het
Adgrb3	A	T	1: 25,133,081 (GRCm39)	L1335*	probably null	Het
Adgre5	A	G	8: 84,454,595 (GRCm39)	S301P	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aldh1b1	A	G	4: 45,802,525 (GRCm39)	Y21C	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arhgap23	T	A	11: 97,382,058 (GRCm39)		probably null	Het
Atp4a	G	A	7: 30,415,344 (GRCm39)	M321I	probably benign	Het
C2cd4d	A	T	3: 94,271,615 (GRCm39)	R294W	probably damaging	Het
Carns1	T	C	19: 4,220,875 (GRCm39)	I352V	probably benign	Het
Cdh17	T	A	4: 11,803,969 (GRCm39)	S547R	probably benign	Het
Cdyl2	G	T	8: 117,316,129 (GRCm39)	N286K	probably damaging	Het
Fam186a	C	A	15: 99,840,584 (GRCm39)	V1887L	possibly damaging	Het
Fat4	C	T	3: 39,056,951 (GRCm39)	R4216C	probably damaging	Het
Fcamr	T	C	1: 130,740,663 (GRCm39)	W361R	probably damaging	Het
Helz2	G	A	2: 180,874,831 (GRCm39)	P1888S	probably benign	Het
Itih1	A	T	14: 30,651,833 (GRCm39)	F840L	possibly damaging	Het
Kansl2	T	C	15: 98,429,312 (GRCm39)	D146G	probably benign	Het
Kcnk18	T	C	19: 59,223,746 (GRCm39)	V297A	probably damaging	Het
Kif1a	T	C	1: 92,982,618 (GRCm39)	T720A	possibly damaging	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Large2	C	T	2: 92,196,915 (GRCm39)	R423K	probably benign	Het
Lgals3bp	A	G	11: 118,290,568 (GRCm39)	V13A	probably damaging	Het
Lrrd1	A	G	5: 3,900,837 (GRCm39)	I381V	probably benign	Het
Mastl	A	T	2: 23,045,806 (GRCm39)	I23N	probably damaging	Het
Mettl23	T	C	11: 116,739,728 (GRCm39)	V1A	possibly damaging	Het
Mindy2	A	G	9: 70,538,363 (GRCm39)	V324A	probably damaging	Het
Mtmr4	T	A	11: 87,501,845 (GRCm39)	L633Q	probably damaging	Het
Myh1	G	A	11: 67,102,273 (GRCm39)	E855K	probably damaging	Het
Nin	C	T	12: 70,066,006 (GRCm39)	A2026T	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Or2w1	A	T	13: 21,317,463 (GRCm39)	I173F	probably benign	Het
Otulin	T	C	15: 27,611,696 (GRCm39)	T166A	probably benign	Het
P2ry14	T	A	3: 59,022,798 (GRCm39)	R230W	probably damaging	Het
Pcsk4	T	C	10: 80,162,073 (GRCm39)	E83G	probably damaging	Het
Raet1e	C	A	10: 22,057,887 (GRCm39)	T218N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Safb	G	A	17: 56,909,956 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,527,940 (GRCm39)	N850I	probably damaging	Het
Slc16a4	A	G	3: 107,208,381 (GRCm39)	D297G	possibly damaging	Het
Tcf7l2	A	T	19: 55,905,868 (GRCm39)	K278*	probably null	Het
Tesmin	T	C	19: 3,439,260 (GRCm39)	V104A	possibly damaging	Het
Tiam1	A	G	16: 89,594,918 (GRCm39)		probably null	Het
Tmc4	T	C	7: 3,670,526 (GRCm39)	T522A	probably damaging	Het
Tmprss3	T	A	17: 31,408,141 (GRCm39)	I274F	possibly damaging	Het
Topbp1	A	G	9: 103,210,189 (GRCm39)	K916E	probably damaging	Het
Trdv1	A	G	14: 54,119,513 (GRCm39)	D58G	probably benign	Het
Ube2g2	G	T	10: 77,458,139 (GRCm39)		probably benign	Het
Unc5d	G	T	8: 29,165,335 (GRCm39)	Q747K	possibly damaging	Het
Xpo6	A	G	7: 125,709,124 (GRCm39)	V819A	possibly damaging	Het
Zan	T	A	5: 137,412,559 (GRCm39)		probably benign	Het
Zfp317	T	A	9: 19,558,184 (GRCm39)	W133R	probably benign	Het

Other mutations in Ankrd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Ankrd7	APN	6	18,879,345 (GRCm39)	missense	probably damaging	0.99
IGL01336:Ankrd7	APN	6	18,868,277 (GRCm39)	missense	probably benign	0.05
IGL01916:Ankrd7	APN	6	18,868,250 (GRCm39)	missense	possibly damaging	0.65
IGL02398:Ankrd7	APN	6	18,866,696 (GRCm39)	missense	probably damaging	0.99
R0031:Ankrd7	UTSW	6	18,870,007 (GRCm39)	nonsense	probably null
R0157:Ankrd7	UTSW	6	18,866,539 (GRCm39)	missense	probably damaging	0.98
R0207:Ankrd7	UTSW	6	18,870,030 (GRCm39)	missense	probably benign	0.09
R2154:Ankrd7	UTSW	6	18,870,030 (GRCm39)	missense	probably benign	0.09
R4255:Ankrd7	UTSW	6	18,869,880 (GRCm39)	splice site	probably null
R4581:Ankrd7	UTSW	6	18,868,020 (GRCm39)	missense	probably damaging	0.99
R4582:Ankrd7	UTSW	6	18,868,020 (GRCm39)	missense	probably damaging	0.99
R4958:Ankrd7	UTSW	6	18,866,722 (GRCm39)	missense	probably benign	0.05
R5194:Ankrd7	UTSW	6	18,868,076 (GRCm39)	missense	possibly damaging	0.67
R6731:Ankrd7	UTSW	6	18,866,653 (GRCm39)	missense	probably damaging	1.00
R6898:Ankrd7	UTSW	6	18,868,100 (GRCm39)	splice site	probably null
R7170:Ankrd7	UTSW	6	18,868,389 (GRCm39)	nonsense	probably null
R7194:Ankrd7	UTSW	6	18,879,342 (GRCm39)	missense	probably benign	0.00
R7749:Ankrd7	UTSW	6	18,879,515 (GRCm39)	splice site	probably null
R8348:Ankrd7	UTSW	6	18,868,007 (GRCm39)	missense	probably damaging	0.96
R8383:Ankrd7	UTSW	6	18,868,410 (GRCm39)	missense	possibly damaging	0.86
R8448:Ankrd7	UTSW	6	18,868,007 (GRCm39)	missense	probably damaging	0.96
R8850:Ankrd7	UTSW	6	18,870,006 (GRCm39)	missense	probably damaging	1.00
R9530:Ankrd7	UTSW	6	18,868,258 (GRCm39)	missense	probably benign	0.00
R9751:Ankrd7	UTSW	6	18,868,024 (GRCm39)	missense	probably damaging	0.99
RF012:Ankrd7	UTSW	6	18,869,274 (GRCm39)	missense	possibly damaging	0.76
Z1177:Ankrd7	UTSW	6	18,866,563 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- AGAGCAATCTGAATTGTGTTAGGG -3'
(R):5'- TACTGCCTGCTAGTGGAACAAG -3'

Sequencing Primer
(F):5'- TGAAGTCCAGATACCATTTGTTTTTC -3'
(R):5'- CAAGAATAAATGAGTGGACAACTTCC -3'

Posted On

2017-07-14