Mutagenetix > Incidental Mutation

Incidental Mutation 'R5553:Ankrd39'

435201

Institutional Source

Beutler Lab

Gene Symbol

Ankrd39

Ensembl Gene

ENSMUSG00000079610

Gene Name

ankyrin repeat domain 39

Synonyms

9130416N05Rik, C030004B10Rik

MMRRC Submission

043110-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5553 (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: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,792,690 (GRCm39)	I86F	probably damaging	Het
Abca13	C	T	11: 9,278,158 (GRCm39)	L3113F	probably damaging	Het
Ano8	T	A	8: 71,937,641 (GRCm39)		probably null	Het
Arid1b	A	T	17: 5,364,152 (GRCm39)	S1041C	probably damaging	Het
Bsn	T	A	9: 107,987,620 (GRCm39)		probably benign	Het
Cbr3	A	G	16: 93,480,451 (GRCm39)	E80G	possibly damaging	Het
Chd1	A	G	17: 17,605,875 (GRCm39)	E271G	probably benign	Het
Dock3	T	A	9: 106,868,309 (GRCm39)	K658N	possibly damaging	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,619,462 (GRCm39)		probably benign	Het
Dppa1	T	A	11: 46,503,861 (GRCm39)		probably null	Het
Fen1	T	C	19: 10,177,787 (GRCm39)	N219S	probably benign	Het
Fsip2	A	G	2: 82,793,090 (GRCm39)	T416A	probably benign	Het
Gm14393	A	T	2: 174,903,639 (GRCm39)	C89*	probably null	Het
Grin2c	C	T	11: 115,143,551 (GRCm39)	M736I	probably null	Het
Heatr5b	A	T	17: 79,060,780 (GRCm39)		probably null	Het
Hspbap1	G	T	16: 35,621,967 (GRCm39)	W104L	probably damaging	Het
Igfn1	C	T	1: 135,895,622 (GRCm39)	G1648E	probably damaging	Het
Irf4	A	G	13: 30,935,811 (GRCm39)	Y122C	probably damaging	Het
Kremen2	A	G	17: 23,960,776 (GRCm39)		probably benign	Het
Niban1	C	T	1: 151,592,986 (GRCm39)	T557M	probably damaging	Het
Nubpl	T	A	12: 52,228,082 (GRCm39)	L169M	possibly damaging	Het
Nwd1	T	C	8: 73,431,604 (GRCm39)	S1200P	possibly damaging	Het
Or1j20	A	G	2: 36,760,477 (GRCm39)	I300V	probably benign	Het
Or5p61	A	T	7: 107,758,478 (GRCm39)	S201T	probably benign	Het
Parp14	G	T	16: 35,677,306 (GRCm39)	H887Q	probably benign	Het
Paxip1	G	A	5: 27,980,637 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,822,565 (GRCm39)	M392T	probably benign	Het
Plekhm3	T	C	1: 64,961,045 (GRCm39)	S404G	possibly damaging	Het
Prelid3a	T	C	18: 67,610,093 (GRCm39)	L141P	probably damaging	Het
Ptprb	T	A	10: 116,186,090 (GRCm39)	V1715E	probably damaging	Het
Rc3h2	G	A	2: 37,288,323 (GRCm39)	R420*	probably null	Het
Selenon	C	A	4: 134,268,228 (GRCm39)	R435L	probably damaging	Het
Slc29a4	T	C	5: 142,705,791 (GRCm39)	L425P	probably damaging	Het
Slc30a9	T	A	5: 67,502,947 (GRCm39)		probably null	Het
Slc9a5	T	C	8: 106,083,672 (GRCm39)	V404A	probably damaging	Het
Ssc5d	A	T	7: 4,939,289 (GRCm39)	D575V	probably damaging	Het
Ttn	A	C	2: 76,721,940 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,725,110 (GRCm39)	Q13R	possibly damaging	Het
Wfikkn1	T	A	17: 26,097,468 (GRCm39)	L285F	possibly damaging	Het
Zcchc17	A	G	4: 130,247,927 (GRCm39)		probably null	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
R5551: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
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'- GGCTTAAAGGAGACTGCGAC -3'
(R):5'- AACTTTGGTCCCATCCTGAGC -3'

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

Posted On

2016-10-24