Mutagenetix > Incidental Mutation

Incidental Mutation 'R6695:Ankrd9'

543490

Institutional Source

Beutler Lab

Gene Symbol

Ankrd9

Ensembl Gene

ENSMUSG00000037904

Gene Name

ankyrin repeat domain 9

Synonyms

2500003O20Rik

MMRRC Submission

044813-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6695 (G1)

Quality Score

56.0072

Status

Validated

Chromosome

Chromosomal Location

110942854-110945516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110943497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 179 (L179H)

Ref Sequence

ENSEMBL: ENSMUSP00000121536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043459] [ENSMUST00000128353] [ENSMUST00000135131] [ENSMUST00000140788] [ENSMUST00000142012] [ENSMUST00000148765]

AlphaFold

Q8BH83

Predicted Effect

probably benign
Transcript: ENSMUST00000043459
AA Change: L146H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000048823
Gene: ENSMUSG00000037904
AA Change: L146H

Domain	Start	End	E-Value	Type
Blast:ANK	70	99	1e-6	BLAST
Blast:ANK	111	139	3e-6	BLAST
ANK	157	186	1.42e0	SMART
low complexity region	213	233	N/A	INTRINSIC
low complexity region	238	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128353
AA Change: L146H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120816
Gene: ENSMUSG00000037904
AA Change: L146H

Domain	Start	End	E-Value	Type
Blast:ANK	70	99	1e-6	BLAST
Blast:ANK	111	139	3e-6	BLAST
ANK	157	186	1.42e0	SMART
low complexity region	213	233	N/A	INTRINSIC
low complexity region	238	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135131
AA Change: L146H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000119339
Gene: ENSMUSG00000037904
AA Change: L146H

Domain	Start	End	E-Value	Type
Blast:ANK	70	99	1e-6	BLAST
Blast:ANK	111	139	3e-6	BLAST
ANK	157	186	1.42e0	SMART
low complexity region	213	233	N/A	INTRINSIC
low complexity region	238	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140788
AA Change: L146H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121279
Gene: ENSMUSG00000037904
AA Change: L146H

Domain	Start	End	E-Value	Type
Blast:ANK	70	99	1e-6	BLAST
Blast:ANK	111	139	3e-6	BLAST
ANK	157	186	1.42e0	SMART
low complexity region	213	233	N/A	INTRINSIC
low complexity region	238	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142012
AA Change: L179H

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121536
Gene: ENSMUSG00000037904
AA Change: L179H

Domain	Start	End	E-Value	Type
Blast:ANK	103	132	1e-6	BLAST
Blast:ANK	144	172	2e-6	BLAST
ANK	190	219	1.42e0	SMART
low complexity region	246	266	N/A	INTRINSIC
low complexity region	271	279	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148765
AA Change: L146H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123239
Gene: ENSMUSG00000037904
AA Change: L146H

Domain	Start	End	E-Value	Type
Blast:ANK	70	99	1e-6	BLAST
Blast:ANK	111	139	3e-6	BLAST
ANK	157	186	1.42e0	SMART
low complexity region	213	233	N/A	INTRINSIC
low complexity region	238	246	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1h	C	A	17: 25,612,714 (GRCm39)	A370S	probably damaging	Het
Cc2d2a	A	T	5: 43,876,019 (GRCm39)	I1053F	probably damaging	Het
Csmd3	A	G	15: 47,721,230 (GRCm39)	V1467A	probably damaging	Het
Cyp4f15	T	A	17: 32,911,586 (GRCm39)	L156*	probably null	Het
Dmwd	T	A	7: 18,814,652 (GRCm39)	L434Q	probably damaging	Het
Dtx4	T	A	19: 12,450,599 (GRCm39)	R538*	probably null	Het
Fcgbp	T	A	7: 27,785,695 (GRCm39)	C377*	probably null	Het
Galntl6	G	T	8: 58,880,804 (GRCm39)	H116Q	probably damaging	Het
Herc1	T	A	9: 66,391,148 (GRCm39)		probably null	Het
Hydin	T	G	8: 111,053,092 (GRCm39)	S255A	probably benign	Het
Knstrn	G	A	2: 118,644,723 (GRCm39)	A48T	probably damaging	Het
Lonrf2	T	C	1: 38,852,470 (GRCm39)	D127G	probably benign	Het
Luzp1	T	C	4: 136,272,609 (GRCm39)	S12P	possibly damaging	Het
Man2c1	A	T	9: 57,048,875 (GRCm39)	H822L	probably benign	Het
Map3k13	G	T	16: 21,741,028 (GRCm39)	G785V	probably benign	Het
Mia2	A	G	12: 59,219,366 (GRCm39)	H454R	probably damaging	Het
Mib2	G	A	4: 155,745,629 (GRCm39)	R61C	probably damaging	Het
Muc15	A	T	2: 110,561,616 (GRCm39)	L17F	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nav2	A	G	7: 49,114,652 (GRCm39)	I879V	probably benign	Het
Nomo1	T	A	7: 45,715,885 (GRCm39)	S751T	probably benign	Het
Or1j10	A	T	2: 36,267,117 (GRCm39)	S110C	probably benign	Het
Or5b24	A	T	19: 12,912,764 (GRCm39)	I221L	possibly damaging	Het
Or5g27	A	G	2: 85,409,793 (GRCm39)	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,278,256 (GRCm39)	N412S	probably benign	Het
Plk5	T	C	10: 80,196,035 (GRCm39)	S235P	probably benign	Het
Ppm1j	A	G	3: 104,692,802 (GRCm39)	D437G	probably damaging	Het
Rab11fip1	T	C	8: 27,633,262 (GRCm39)	E1148G	probably damaging	Het
Rad9b	T	C	5: 122,489,754 (GRCm39)	N43S	probably damaging	Het
Rc3h2	A	C	2: 37,304,673 (GRCm39)	I29S	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Homo
Spdl1	T	A	11: 34,713,830 (GRCm39)		probably null	Het
Spta1	A	T	1: 174,071,608 (GRCm39)		probably null	Het
Stk32c	A	T	7: 138,702,880 (GRCm39)	V53E	probably damaging	Het
Strc	A	T	2: 121,207,705 (GRCm39)	F555L	probably benign	Het
Sugct	T	G	13: 17,497,815 (GRCm39)	N286T	possibly damaging	Het
Swsap1	A	T	9: 21,867,971 (GRCm39)		probably null	Het
Thbs2	T	A	17: 14,894,426 (GRCm39)	D807V	possibly damaging	Het
Tnrc6b	A	G	15: 80,763,974 (GRCm39)	D492G	probably damaging	Het
Tonsl	A	T	15: 76,514,018 (GRCm39)	S1184T	possibly damaging	Het
Tpp2	T	A	1: 44,022,436 (GRCm39)	Y945N	probably benign	Het
Usp54	G	T	14: 20,610,937 (GRCm39)	A1293D	possibly damaging	Het
Vps52	A	T	17: 34,182,173 (GRCm39)	K516*	probably null	Het
Zbtb17	T	A	4: 141,189,110 (GRCm39)	V10D	probably damaging	Het
Zfp607b	T	C	7: 27,403,464 (GRCm39)	V640A	probably benign	Het

Other mutations in Ankrd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Ankrd9	APN	12	110,943,797 (GRCm39)	missense	probably damaging	1.00
IGL02220:Ankrd9	APN	12	110,943,933 (GRCm39)	start codon destroyed	probably null	0.99
IGL02327:Ankrd9	APN	12	110,943,849 (GRCm39)	missense	probably damaging	1.00
IGL03148:Ankrd9	APN	12	110,943,293 (GRCm39)	missense	probably benign
R4321:Ankrd9	UTSW	12	110,943,074 (GRCm39)	missense	probably damaging	1.00
R4807:Ankrd9	UTSW	12	110,943,669 (GRCm39)	missense	probably benign	0.25
R5918:Ankrd9	UTSW	12	110,943,200 (GRCm39)	missense	probably benign
R6233:Ankrd9	UTSW	12	110,943,554 (GRCm39)	missense	probably damaging	1.00
R6661:Ankrd9	UTSW	12	110,944,202 (GRCm39)	intron	probably benign
R7672:Ankrd9	UTSW	12	110,943,180 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCATTGACCGTGGCAGAAG -3'
(R):5'- ATGCACACTACCTGCTAGC -3'

Sequencing Primer
(F):5'- TGCCTCAGCCTTAGTGGG -3'
(R):5'- TAGCTACCTTCCCGCGGTG -3'

Posted On

2019-01-24