Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02480:Ankrd13d'

295157

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02480

Quality Score

Status

Chromosome

Chromosomal Location

4320208-4333165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4321491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 404 (P404S)

Ref Sequence

ENSEMBL: ENSMUSP00000053783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037992] [ENSMUST00000056888] [ENSMUST00000113852] [ENSMUST00000163858] [ENSMUST00000166031] [ENSMUST00000169192]

AlphaFold

Q6PD24

Predicted Effect

probably benign
Transcript: ENSMUST00000037992

SMART Domains

Protein: ENSMUSP00000047718
Gene: ENSMUSG00000034616

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
Pfam:DEK_C	268	321	3.3e-18	PFAM
DSPc	325	463	7.25e-42	SMART
low complexity region	488	507	N/A	INTRINSIC
low complexity region	539	551	N/A	INTRINSIC
low complexity region	594	606	N/A	INTRINSIC
low complexity region	612	627	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056888
AA Change: P404S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
AA Change: P404S

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: ENSMUST00000113852

SMART Domains

Protein: ENSMUSP00000109483
Gene: ENSMUSG00000034616

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
Pfam:DEK_C	273	324	1.1e-15	PFAM
DSPc	329	467	7.25e-42	SMART
low complexity region	492	511	N/A	INTRINSIC
low complexity region	543	555	N/A	INTRINSIC
low complexity region	598	610	N/A	INTRINSIC
low complexity region	616	631	N/A	INTRINSIC

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 benign
Transcript: ENSMUST00000166031

SMART Domains

Protein: ENSMUSP00000130505
Gene: ENSMUSG00000005986

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169192

SMART Domains

Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986

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

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

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,946,908 (GRCm39)	I202K	probably benign	Het
Abcc1	T	A	16: 14,221,869 (GRCm39)	S169T	possibly damaging	Het
Acsm1	A	T	7: 119,255,265 (GRCm39)	I389F	possibly damaging	Het
Actn2	T	A	13: 12,291,364 (GRCm39)	Q680L	probably benign	Het
Ankrd46	G	T	15: 36,484,142 (GRCm39)		probably benign	Het
Arfip1	A	G	3: 84,455,239 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,570,745 (GRCm39)	L574F	probably damaging	Het
Cym	T	C	3: 107,120,838 (GRCm39)	I256V	probably benign	Het
Cyp3a44	C	T	5: 145,731,715 (GRCm39)	E144K	possibly damaging	Het
Efna1	T	C	3: 89,179,902 (GRCm39)	E109G	probably benign	Het
Eif4a3l1	A	T	6: 136,306,213 (GRCm39)	I225F	probably damaging	Het
Eml1	C	A	12: 108,487,955 (GRCm39)	Q556K	probably benign	Het
Eml5	T	G	12: 98,842,502 (GRCm39)	T199P	probably damaging	Het
Entr1	T	A	2: 26,275,132 (GRCm39)	H342L	probably damaging	Het
Etl4	A	C	2: 20,793,335 (GRCm39)	M687L	probably damaging	Het
Fam199x	C	A	X: 135,950,788 (GRCm39)	T56K	probably damaging	Het
Fat4	A	G	3: 39,064,579 (GRCm39)	D4845G	probably damaging	Het
Gm4987	T	A	X: 45,544,973 (GRCm39)		noncoding transcript	Het
Gm5828	C	A	1: 16,839,766 (GRCm39)		noncoding transcript	Het
Gm5930	T	C	14: 44,575,087 (GRCm39)	Y68C	probably benign	Het
Gucy1a1	C	T	3: 82,005,040 (GRCm39)	V582M	probably damaging	Het
Haghl	G	T	17: 26,002,033 (GRCm39)	A220E	probably damaging	Het
Hsf5	G	A	11: 87,522,483 (GRCm39)	A359T	possibly damaging	Het
Igsf9	A	T	1: 172,312,345 (GRCm39)		probably benign	Het
Igsf9	C	A	1: 172,324,480 (GRCm39)	D799E	possibly damaging	Het
Itga1	A	T	13: 115,124,184 (GRCm39)	F703I	probably damaging	Het
Kcna6	G	A	6: 126,715,531 (GRCm39)	P453S	probably damaging	Het
Lzic	A	T	4: 149,571,260 (GRCm39)	N15I	probably damaging	Het
Or1j10	T	G	2: 36,267,504 (GRCm39)	C239G	probably damaging	Het
Or2n1d	A	G	17: 38,646,314 (GRCm39)	R89G	probably benign	Het
Or4f54	A	G	2: 111,122,858 (GRCm39)	I82V	possibly damaging	Het
Or5p78	C	T	7: 108,212,018 (GRCm39)	T168I	probably benign	Het
P4ha1	T	C	10: 59,179,574 (GRCm39)	Y141H	probably damaging	Het
Paxx	G	A	2: 25,350,024 (GRCm39)	P164S	probably damaging	Het
Pgd	A	G	4: 149,241,075 (GRCm39)	V278A	probably damaging	Het
Pik3c2g	A	G	6: 139,798,526 (GRCm39)	Y352C	probably damaging	Het
Pkd2l2	A	G	18: 34,571,843 (GRCm39)	N614S	possibly damaging	Het
Poli	T	C	18: 70,658,477 (GRCm39)	T86A	probably benign	Het
Psd2	G	A	18: 36,139,136 (GRCm39)	R528H	probably damaging	Het
Ptchd4	G	T	17: 42,813,431 (GRCm39)	C444F	probably benign	Het
Ptpra	C	A	2: 130,346,181 (GRCm39)	T114K	probably benign	Het
Rho	A	G	6: 115,912,505 (GRCm39)	N123S	probably benign	Het
Setd5	A	G	6: 113,120,770 (GRCm39)	D993G	probably damaging	Het
Slc1a2	T	C	2: 102,566,411 (GRCm39)	L38P	probably damaging	Het
Slc2a7	G	A	4: 150,244,569 (GRCm39)	V346M	possibly damaging	Het
Slc43a1	A	G	2: 84,669,928 (GRCm39)	I7V	probably benign	Het
Spag9	C	T	11: 93,999,413 (GRCm39)	Q691*	probably null	Het
Timmdc1	A	T	16: 38,342,763 (GRCm39)	V45D	probably null	Het
Tlr8	T	A	X: 166,027,179 (GRCm39)	H557L	probably damaging	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
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
R3623: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

Posted On

2015-04-16