Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03368:Podnl1'

420186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Podnl1

Ensembl Gene

ENSMUSG00000012889

Gene Name

podocan-like 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL03368

Quality Score

Status

Chromosome

Chromosomal Location

84125989-84132527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84132189 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 548 (V548I)

Ref Sequence

ENSEMBL: ENSMUSP00000091073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000093380] [ENSMUST00000117424]

Predicted Effect

probably benign
Transcript: ENSMUST00000040383

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
DM14	137	194	1.02e-14	SMART
low complexity region	195	206	N/A	INTRINSIC
low complexity region	229	238	N/A	INTRINSIC
DM14	250	308	8.7e-23	SMART
DM14	342	400	7.44e-31	SMART
low complexity region	457	478	N/A	INTRINSIC
DM14	487	545	4.62e-27	SMART
C2	649	763	5.08e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093380
AA Change: V548I

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091073
Gene: ENSMUSG00000012889
AA Change: V548I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LRRNT	38	71	1.91e0	SMART
LRR	70	89	1.81e2	SMART
LRR	90	115	1.76e-1	SMART
LRR	116	139	1.19e2	SMART
LRR	162	186	1.06e1	SMART
LRR	191	210	5.42e1	SMART
LRR	211	231	1.66e1	SMART
LRR	233	257	3.98e1	SMART
LRR_TYP	258	281	7.9e-4	SMART
LRR	304	328	9.24e1	SMART
LRR_TYP	329	352	4.72e-2	SMART
LRR	375	399	2.61e2	SMART
LRR_TYP	400	423	2.61e-4	SMART
LRR	424	444	3.18e1	SMART
LRR	445	470	3.27e1	SMART
LRR_TYP	471	494	3.63e-3	SMART
LRR	495	515	1.97e1	SMART
LRR	516	541	2.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117424

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
DM14	205	263	8.7e-23	SMART
DM14	297	355	7.44e-31	SMART
low complexity region	411	432	N/A	INTRINSIC
DM14	441	499	4.62e-27	SMART
C2	603	717	5.08e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154029

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,222,373	V1914A	probably benign	Het
A530053G22Rik	T	C	6: 60,403,545		noncoding transcript	Het
Abca5	A	G	11: 110,313,522		probably benign	Het
Agxt2	T	A	15: 10,388,170	C278*	probably null	Het
Ankar	A	G	1: 72,675,813	L384P	probably damaging	Het
Ankrd55	T	C	13: 112,318,556		probably benign	Het
Ap5m1	A	G	14: 49,081,136		probably benign	Het
Arhgap18	C	T	10: 26,772,693	S37F	possibly damaging	Het
Btnl10	G	A	11: 58,919,386	V118I	possibly damaging	Het
Chst11	C	A	10: 83,092,146	P66T	probably benign	Het
Cited2	C	A	10: 17,724,196	P84Q	possibly damaging	Het
D430042O09Rik	T	C	7: 125,868,858		probably benign	Het
Dpy19l4	T	A	4: 11,290,253	I302F	possibly damaging	Het
Ece2	A	G	16: 20,644,158	E640G	possibly damaging	Het
Fam184b	T	C	5: 45,531,824	D890G	possibly damaging	Het
Fam227b	A	T	2: 126,119,063	D215E	probably damaging	Het
Foxp2	A	G	6: 15,394,718	K139R	probably damaging	Het
Gle1	T	C	2: 29,943,793	C401R	probably damaging	Het
Gp2	A	T	7: 119,452,874	C206S	probably damaging	Het
Hdgfl2	G	T	17: 56,079,746		probably benign	Het
Hmcn1	T	C	1: 150,663,872	N2956S	probably damaging	Het
Ifi209	A	G	1: 173,642,491	Q215R	possibly damaging	Het
Il20rb	C	T	9: 100,459,121		probably benign	Het
Kif26b	A	C	1: 178,916,208	S1290R	probably damaging	Het
Mical1	A	G	10: 41,479,629	I156M	probably damaging	Het
Nbas	C	T	12: 13,328,451	A613V	probably benign	Het
Nbea	C	T	3: 56,079,930	V380M	probably damaging	Het
Nutf2	T	C	8: 105,875,600	F14S	probably damaging	Het
Olfr1260	A	T	2: 89,977,789	I4L	probably benign	Het
Olfr582	T	A	7: 103,041,765	H95Q	possibly damaging	Het
Parp1	A	G	1: 180,580,622	E236G	probably benign	Het
Ptcd2	T	A	13: 99,330,069		probably benign	Het
Pygl	T	C	12: 70,191,152	Q704R	probably benign	Het
Scaper	A	T	9: 55,656,027	S492T	possibly damaging	Het
Sephs1	G	A	2: 4,889,269	D94N	possibly damaging	Het
Slc22a29	A	C	19: 8,207,262		probably null	Het
Slc22a8	G	T	19: 8,609,119		probably benign	Het
Slfn5	A	G	11: 82,956,385	D32G	possibly damaging	Het
Sphkap	T	A	1: 83,275,676	T1451S	probably benign	Het
Srp54a	A	C	12: 55,091,266	E63A	probably null	Het
Stap1	T	A	5: 86,090,968	I165N	probably damaging	Het
Terf2	T	C	8: 107,070,549	E494G	probably damaging	Het
Trak1	C	A	9: 121,367,122	L7I	possibly damaging	Het
Twnk	T	C	19: 45,010,492	V557A	probably damaging	Het
U2af2	T	A	7: 5,067,264		probably benign	Het
Ube2j1	T	A	4: 33,038,317	I75N	probably damaging	Het
Ubr5	A	G	15: 37,998,316	V1643A	probably damaging	Het
Vsx2	A	G	12: 84,570,300	T120A	probably benign	Het

Other mutations in Podnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02738:Podnl1	APN	8	84132195	missense	probably benign	0.31
IGL03151:Podnl1	APN	8	84132189	missense	probably benign	0.44
IGL03197:Podnl1	APN	8	84132189	missense	probably benign	0.44
IGL03198:Podnl1	APN	8	84132189	missense	probably benign	0.44
IGL03225:Podnl1	APN	8	84132189	missense	probably benign	0.44
IGL03290:Podnl1	APN	8	84132189	missense	probably benign	0.44
IGL03493:Podnl1	APN	8	84132189	missense	probably benign	0.44
PIT4472001:Podnl1	UTSW	8	84127848	missense
R1056:Podnl1	UTSW	8	84129276	missense	probably benign	0.00
R1962:Podnl1	UTSW	8	84127297	missense	probably benign	0.04
R4367:Podnl1	UTSW	8	84127268	missense	probably benign	0.03
R4412:Podnl1	UTSW	8	84130665	missense	probably benign	0.00
R4473:Podnl1	UTSW	8	84131985	missense	possibly damaging	0.89
R4715:Podnl1	UTSW	8	84126061	start gained	probably benign
R5009:Podnl1	UTSW	8	84126258	missense	probably benign	0.01
R5013:Podnl1	UTSW	8	84126336	missense	probably damaging	0.99
R5153:Podnl1	UTSW	8	84130643	missense	probably benign	0.00
R7596:Podnl1	UTSW	8	84126395	missense

Posted On

2016-08-02