Mutagenetix > Incidental Mutation

Incidental Mutation 'R5551:Ankrd39'

435104

Institutional Source

Beutler Lab

Gene Symbol

Ankrd39

Ensembl Gene

ENSMUSG00000079610

Gene Name

ankyrin repeat domain 39

Synonyms

9130416N05Rik, C030004B10Rik

MMRRC Submission

043108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36577252-36586333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36581062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 96 (G96R)

Ref Sequence

ENSEMBL: ENSMUSP00000141712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001172] [ENSMUST00000191849] [ENSMUST00000194894] [ENSMUST00000207088] [ENSMUST00000207843]

AlphaFold

Q9D2X0

Predicted Effect

probably damaging
Transcript: ENSMUST00000001172
AA Change: G96R

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

SMART Domains

Protein: ENSMUSP00000001172
Gene: ENSMUSG00000079610
AA Change: G96R

Domain	Start	End	E-Value	Type
ANK	30	59	8.77e2	SMART
ANK	63	92	1.08e-5	SMART
ANK	96	127	1.27e-2	SMART
ANK	129	158	5.62e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191849

SMART Domains

Protein: ENSMUSP00000142202
Gene: ENSMUSG00000109510

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	9e-9	BLAST
ANK	30	59	1.12e-3	SMART
ANK	63	92	1.4e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192954
AA Change: G166R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194787
AA Change: G84R

Predicted Effect

probably damaging
Transcript: ENSMUST00000194894
AA Change: G96R

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

SMART Domains

Protein: ENSMUSP00000141712
Gene: ENSMUSG00000079610
AA Change: G96R

Domain	Start	End	E-Value	Type
ANK	30	59	5.6e0	SMART
ANK	63	92	7.1e-8	SMART
ANK	96	127	8.2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207088

Predicted Effect

probably benign
Transcript: ENSMUST00000207843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207922

Meta Mutation Damage Score

0.3654

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB041806	G	T	4: 138,123,312 (GRCm39)	P3T	probably damaging	Het
Abl1	C	T	2: 31,691,682 (GRCm39)	A1048V	probably benign	Het
Acap2	A	G	16: 30,923,726 (GRCm39)	V659A	probably damaging	Het
Acox1	A	G	11: 116,080,317 (GRCm39)	S29P	possibly damaging	Het
Adamts1	A	G	16: 85,594,634 (GRCm39)	I405T	probably benign	Het
Afm	A	T	5: 90,679,511 (GRCm39)	E335V	probably null	Het
Akap6	C	T	12: 52,842,747 (GRCm39)	P32S	probably damaging	Het
Alk	T	C	17: 72,182,028 (GRCm39)	M1332V	possibly damaging	Het
Atp2c1	C	A	9: 105,336,936 (GRCm39)	A16S	probably damaging	Het
Ccdc141	T	C	2: 76,844,753 (GRCm39)	E1438G	probably damaging	Het
Csmd2	T	C	4: 128,404,741 (GRCm39)	Y2376H	possibly damaging	Het
Csmd3	T	C	15: 48,177,492 (GRCm39)	T349A	probably benign	Het
Ctsr	A	T	13: 61,307,357 (GRCm39)	M313K	probably damaging	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,619,462 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,031,718 (GRCm39)	S3516P	possibly damaging	Het
Ehd4	A	G	2: 119,958,100 (GRCm39)	S162P	possibly damaging	Het
Ets2	T	C	16: 95,513,165 (GRCm39)	W114R	probably damaging	Het
Fignl1	A	T	11: 11,751,603 (GRCm39)	V484E	probably damaging	Het
Golph3	C	A	15: 12,321,922 (GRCm39)	S35R	probably benign	Het
Gzf1	T	C	2: 148,526,248 (GRCm39)	Y240H	probably damaging	Het
Hook3	A	G	8: 26,558,639 (GRCm39)	F75S	possibly damaging	Het
Ifi209	T	A	1: 173,468,763 (GRCm39)	S198T	probably benign	Het
Iqch	A	T	9: 63,403,535 (GRCm39)		probably null	Het
Katnip	T	C	7: 125,419,249 (GRCm39)	F472S	probably damaging	Het
Lrrk2	C	T	15: 91,696,553 (GRCm39)	T2447I	probably benign	Het
Mesp2	T	C	7: 79,461,367 (GRCm39)	S231P	probably benign	Het
Muc5b	T	C	7: 141,422,240 (GRCm39)	C4459R	possibly damaging	Het
Myh10	A	G	11: 68,659,113 (GRCm39)	E497G	possibly damaging	Het
Nalcn	A	T	14: 123,515,698 (GRCm39)	V1701E	possibly damaging	Het
Nat8f1	T	C	6: 85,887,891 (GRCm39)	D23G	probably damaging	Het
Nfia	G	A	4: 97,902,497 (GRCm39)	E250K	probably damaging	Het
Nup155	A	G	15: 8,177,817 (GRCm39)	M1067V	probably benign	Het
Or4k36	T	C	2: 111,145,916 (GRCm39)	F31L	possibly damaging	Het
Pde4d	T	A	13: 110,084,930 (GRCm39)		probably null	Het
Rtn4	G	A	11: 29,691,011 (GRCm39)	V1101I	probably damaging	Het
Sema4c	A	G	1: 36,591,398 (GRCm39)	Y348H	probably damaging	Het
Sema6a	A	G	18: 47,381,595 (GRCm39)	V958A	possibly damaging	Het
Sez6l2	A	G	7: 126,566,002 (GRCm39)	Y677C	probably damaging	Het
Smad5	T	C	13: 56,883,654 (GRCm39)	C347R	probably damaging	Het
Smim19	A	G	8: 22,953,383 (GRCm39)	Y95H	probably benign	Het
Srrm2	C	A	17: 24,037,450 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,701,474 (GRCm39)	K390E	probably damaging	Het
Tars1	G	A	15: 11,392,068 (GRCm39)	T248M	probably damaging	Het
Tcirg1	A	T	19: 3,948,858 (GRCm39)	F442L	probably damaging	Het
Tex55	A	G	16: 38,648,336 (GRCm39)	Y258H	probably benign	Het
Tlk2	A	G	11: 105,112,133 (GRCm39)	E162G	probably benign	Het
Tmc6	A	G	11: 117,660,271 (GRCm39)	C656R	probably damaging	Het
Ttn	G	T	2: 76,719,406 (GRCm39)		probably benign	Het
Uqcrc2	C	T	7: 120,244,461 (GRCm39)	T201I	probably damaging	Het
Zfp282	G	T	6: 47,867,579 (GRCm39)	A252S	possibly damaging	Het
Zfp473	G	C	7: 44,383,575 (GRCm39)	P253A	probably benign	Het
Zfp541	A	G	7: 15,824,786 (GRCm39)	N1068D	probably damaging	Het
Zfp946	A	G	17: 22,674,365 (GRCm39)	Q373R	probably damaging	Het
Zmat2	G	A	18: 36,927,010 (GRCm39)	G6R	probably benign	Het

Other mutations in Ankrd39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Ankrd39	APN	1	36,581,142 (GRCm39)	missense	probably damaging	0.98
R1637:Ankrd39	UTSW	1	36,578,573 (GRCm39)	nonsense	probably null
R4249:Ankrd39	UTSW	1	36,586,236 (GRCm39)	missense	probably benign	0.00
R5548:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5552:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5553:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5554:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5591:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5594:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R7609:Ankrd39	UTSW	1	36,578,546 (GRCm39)	missense	probably damaging	1.00
R7974:Ankrd39	UTSW	1	36,585,999 (GRCm39)	unclassified	probably benign
R8973:Ankrd39	UTSW	1	36,578,439 (GRCm39)	utr 3 prime	probably benign
R9095:Ankrd39	UTSW	1	36,586,241 (GRCm39)	missense	probably benign	0.40
Z1176:Ankrd39	UTSW	1	36,581,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTAAAGGAGACTGCGACATAC -3'
(R):5'- AACTTTGGTCCCATCCTGAGC -3'

Sequencing Primer
(F):5'- GGAGACTGCGACATACCTTATGC -3'
(R):5'- AATTAGTGGAAGGGCACAGTGTTTC -3'

Posted On

2016-10-24