Mutagenetix > Incidental Mutation

Incidental Mutation 'R6898:Ankrd7'

538450

Institutional Source

Beutler Lab

Gene Symbol

Ankrd7

Ensembl Gene

ENSMUSG00000029517

Gene Name

ankyrin repeat domain 7

Synonyms

4930532L20Rik

MMRRC Submission

044992-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18866317-18879585 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 18868100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111054 (fasta)

Gene Model

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

AlphaFold

Q9D504

Predicted Effect

probably null
Transcript: ENSMUST00000031489

SMART Domains

Protein: ENSMUSP00000031489
Gene: ENSMUSG00000029517

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 null
Transcript: ENSMUST00000115396

SMART Domains

Protein: ENSMUSP00000111054
Gene: ENSMUSG00000029517

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,907,975 (GRCm39)	Y325F	probably damaging	Het
Aplnr	A	T	2: 84,970,155 (GRCm39)		probably benign	Het
Capns2	T	C	8: 93,628,605 (GRCm39)	S165P	probably damaging	Het
Col25a1	T	C	3: 130,378,377 (GRCm39)		probably null	Het
Crocc2	T	C	1: 93,143,304 (GRCm39)	V1302A	probably benign	Het
Cul9	C	A	17: 46,821,952 (GRCm39)	R1841M	possibly damaging	Het
Dnhd1	T	C	7: 105,336,584 (GRCm39)	L1213P	probably damaging	Het
Dscam	A	T	16: 96,631,100 (GRCm39)	I305K	probably benign	Het
Dsp	A	G	13: 38,376,193 (GRCm39)	E1326G	possibly damaging	Het
Eif4a3l1	T	A	6: 136,305,617 (GRCm39)	V26E	probably benign	Het
Emc9	A	G	14: 55,822,367 (GRCm39)		probably null	Het
Eppk1	A	C	15: 75,996,126 (GRCm39)	S252A	probably benign	Het
Fn1	T	A	1: 71,639,572 (GRCm39)	T1830S	probably damaging	Het
Fryl	A	T	5: 73,179,485 (GRCm39)	M2974K	probably damaging	Het
Gdpd3	C	A	7: 126,370,201 (GRCm39)	S250*	probably null	Het
Gnl3	A	T	14: 30,735,136 (GRCm39)	S485R	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hsd17b3	T	C	13: 64,207,339 (GRCm39)	Y234C	probably benign	Het
Lima1	T	C	15: 99,679,148 (GRCm39)	H271R	possibly damaging	Het
Nfu1	G	A	6: 86,994,034 (GRCm39)		probably null	Het
Noto	A	G	6: 85,404,942 (GRCm39)	E97G	probably damaging	Het
Ntng1	T	C	3: 109,779,534 (GRCm39)	K348E	probably damaging	Het
Or2y13	G	A	11: 49,414,536 (GRCm39)		probably benign	Het
Or4a70	C	T	2: 89,324,594 (GRCm39)	G21R	possibly damaging	Het
Osmr	C	A	15: 6,845,364 (GRCm39)	V801F	probably damaging	Het
Papln	A	G	12: 83,824,234 (GRCm39)	E554G	probably benign	Het
Pitrm1	T	C	13: 6,605,495 (GRCm39)	L175P	probably damaging	Het
Pramel22	A	T	4: 143,382,053 (GRCm39)	N214K	probably damaging	Het
Pramel7	T	C	2: 87,320,070 (GRCm39)	T408A	probably damaging	Het
Serinc2	A	T	4: 130,149,235 (GRCm39)	D322E	probably benign	Het
Setx	T	C	2: 29,038,120 (GRCm39)	V1535A	probably benign	Het
Sgce	A	T	6: 4,689,666 (GRCm39)	V389E	probably damaging	Het
Snx11	G	A	11: 96,659,888 (GRCm39)	T267I	probably benign	Het
Spata6l	T	G	19: 28,921,688 (GRCm39)	Q146P	probably benign	Het
Specc1	G	A	11: 62,009,162 (GRCm39)	S306N	probably benign	Het
Spocd1	A	G	4: 129,850,305 (GRCm39)		probably benign	Het
St7	T	A	6: 17,854,945 (GRCm39)	V294D	probably damaging	Het
Stab1	C	T	14: 30,880,920 (GRCm39)	R624Q	probably benign	Het
Tcf21	T	C	10: 22,695,403 (GRCm39)	I134V	probably benign	Het
Tgfb2	T	A	1: 186,364,697 (GRCm39)	I266F	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,365 (GRCm39)	I209M	possibly damaging	Het
Tmcc3	A	G	10: 94,387,034 (GRCm39)		probably null	Het
Toe1	A	G	4: 116,664,671 (GRCm39)	S16P	probably damaging	Het
Vps16	T	C	2: 130,279,601 (GRCm39)	V38A	possibly damaging	Het
Wnk2	G	T	13: 49,224,557 (GRCm39)	D1001E	probably damaging	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
R6077:Ankrd7	UTSW	6	18,868,071 (GRCm39)	missense	probably benign	0.08
R6731:Ankrd7	UTSW	6	18,866,653 (GRCm39)	missense	probably damaging	1.00
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'- GAGCAATCTGAATTGTGTTAGGGTATC -3'
(R):5'- ACCGTAGCACAACTCTCCTG -3'

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

Posted On

2018-11-06