Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:Ankrd13d'

268760

Institutional Source

Beutler Lab

Gene Symbol

Ankrd13d

Ensembl Gene

ENSMUSG00000005986

Gene Name

ankyrin repeat domain 13 family, member D

Synonyms

0710001P18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4320208-4333165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4331968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 110 (E110G)

Ref Sequence

ENSEMBL: ENSMUSP00000128037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025791] [ENSMUST00000056888] [ENSMUST00000088737] [ENSMUST00000113837] [ENSMUST00000163858] [ENSMUST00000167215] [ENSMUST00000169192] [ENSMUST00000171123]

AlphaFold

Q6PD24

Predicted Effect

probably benign
Transcript: ENSMUST00000025791

SMART Domains

Protein: ENSMUSP00000025791
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
RGS	12	133	3.17e-30	SMART
S_TKc	149	411	2.43e-86	SMART
S_TK_X	412	491	5.3e-9	SMART
PH	517	612	2.79e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056888
AA Change: E110G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
AA Change: E110G

Domain	Start	End	E-Value	Type
ANK	39	68	2.77e-3	SMART
ANK	72	101	9.75e1	SMART
Pfam:GPCR_chapero_1	155	469	1.2e-111	PFAM
UIM	482	501	3.2e-2	SMART
UIM	528	547	1.92e2	SMART
UIM	564	583	8.18e0	SMART
UIM	589	605	6e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088737

SMART Domains

Protein: ENSMUSP00000086114
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
RGS	54	175	3.17e-30	SMART
S_TKc	191	453	2.43e-86	SMART
S_TK_X	454	533	5.3e-9	SMART
PH	559	654	2.79e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113837

SMART Domains

Protein: ENSMUSP00000109468
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
RGS	54	175	3.17e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163858

SMART Domains

Protein: ENSMUSP00000128932
Gene: ENSMUSG00000005986

Domain	Start	End	E-Value	Type
ANK	39	68	2.77e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167215
AA Change: E110G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128037
Gene: ENSMUSG00000005986
AA Change: E110G

Domain	Start	End	E-Value	Type
ANK	39	68	2.77e-3	SMART
ANK	72	101	9.75e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169192
AA Change: E37G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986
AA Change: E37G

Domain	Start	End	E-Value	Type
Blast:ANK	1	28	5e-11	BLAST
Pfam:GPCR_chapero_1	82	121	6.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169653

Predicted Effect

probably benign
Transcript: ENSMUST00000170283

SMART Domains

Protein: ENSMUSP00000126349
Gene: ENSMUSG00000005986

Domain	Start	End	E-Value	Type
Pfam:GPCR_chapero_1	1	98	9.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171123

SMART Domains

Protein: ENSMUSP00000126930
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
RGS	54	175	3.17e-30	SMART
Pfam:Pkinase_Tyr	191	378	1.1e-21	PFAM
Pfam:Pkinase	191	381	4.9e-50	PFAM

Meta Mutation Damage Score

0.0797

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Becn2	T	C	1: 175,748,197 (GRCm39)	C88R	possibly damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Camk2g	G	A	14: 20,805,775 (GRCm39)		probably benign	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cep135	G	A	5: 76,772,586 (GRCm39)	G657D	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Ephx1	A	G	1: 180,817,498 (GRCm39)	I391T	probably benign	Het
Fcgbp	A	G	7: 27,800,701 (GRCm39)	Y1249C	probably damaging	Het
Gm5592	T	C	7: 40,807,052 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,629 (GRCm39)	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380 (GRCm39)	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,245,857 (GRCm39)	I130F	probably damaging	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,620,103 (GRCm39)	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,072,583 (GRCm39)	H324R	probably damaging	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,086,269 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Or14a259	A	G	7: 86,013,308 (GRCm39)	F79S	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcnt	T	A	10: 76,269,584 (GRCm39)	E228V	probably benign	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,390,265 (GRCm39)	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Thbd	A	G	2: 148,248,893 (GRCm39)	V325A	probably damaging	Het
Trpd52l3	T	A	19: 29,981,333 (GRCm39)	C29*	probably null	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Usp35	T	C	7: 96,961,827 (GRCm39)	H533R	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Zap70	C	T	1: 36,818,216 (GRCm39)	T301I	probably benign	Het
Zfp341	A	G	2: 154,466,801 (GRCm39)	K57E	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zfp786	T	C	6: 47,798,357 (GRCm39)	N194D	probably benign	Het

Other mutations in Ankrd13d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Ankrd13d	APN	19	4,323,592 (GRCm39)	missense	probably benign	0.21
IGL02480:Ankrd13d	APN	19	4,321,491 (GRCm39)	missense	possibly damaging	0.67
R0639:Ankrd13d	UTSW	19	4,323,047 (GRCm39)	critical splice donor site	probably null
R0673:Ankrd13d	UTSW	19	4,323,047 (GRCm39)	critical splice donor site	probably null
R1423:Ankrd13d	UTSW	19	4,331,097 (GRCm39)	missense	probably damaging	1.00
R1592:Ankrd13d	UTSW	19	4,332,919 (GRCm39)	missense	probably benign	0.21
R1682:Ankrd13d	UTSW	19	4,332,961 (GRCm39)	missense	probably damaging	1.00
R1843:Ankrd13d	UTSW	19	4,321,623 (GRCm39)	missense	probably damaging	0.99
R2277:Ankrd13d	UTSW	19	4,331,012 (GRCm39)	missense	probably benign	0.03
R2376:Ankrd13d	UTSW	19	4,322,623 (GRCm39)	missense	possibly damaging	0.79
R2483:Ankrd13d	UTSW	19	4,331,968 (GRCm39)	missense	probably damaging	0.96
R4066:Ankrd13d	UTSW	19	4,320,388 (GRCm39)	missense	probably benign	0.00
R5871:Ankrd13d	UTSW	19	4,332,022 (GRCm39)	missense	possibly damaging	0.92
R6011:Ankrd13d	UTSW	19	4,331,962 (GRCm39)	missense	probably damaging	1.00
R6057:Ankrd13d	UTSW	19	4,332,256 (GRCm39)	missense	probably damaging	0.97
R6167:Ankrd13d	UTSW	19	4,323,081 (GRCm39)	missense	probably damaging	1.00
R7747:Ankrd13d	UTSW	19	4,331,013 (GRCm39)	missense	probably damaging	0.98
R7921:Ankrd13d	UTSW	19	4,321,058 (GRCm39)	missense	probably damaging	0.99
R8189:Ankrd13d	UTSW	19	4,320,880 (GRCm39)	missense	probably benign	0.08
R8205:Ankrd13d	UTSW	19	4,331,009 (GRCm39)	missense	probably damaging	1.00
R9376:Ankrd13d	UTSW	19	4,332,250 (GRCm39)	missense	probably damaging	1.00
R9476:Ankrd13d	UTSW	19	4,320,289 (GRCm39)	missense	unknown
R9591:Ankrd13d	UTSW	19	4,320,250 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGACCCAGTCTCATCTGCATG -3'
(R):5'- AGACTAGCTTCCAGGTTGGTG -3'

Sequencing Primer
(F):5'- ATGGGCCTGGGATCCCATATTTC -3'
(R):5'- ACTAGCTTCCAGGTTGGTGAATGG -3'

Posted On

2015-02-19