Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03225:Podnl1'

413776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Podnl1

Ensembl Gene

ENSMUSG00000012889

Gene Name

podocan-like 1

Synonyms

5832418A03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL03225

Quality Score

Status

Chromosome

Chromosomal Location

84852618-84859156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84858818 bp (GRCm39)

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]

AlphaFold

Q6P3Y9

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	A	G	7: 50,249,668 (GRCm39)	K234R	probably benign	Het
Adam21	T	C	12: 81,606,043 (GRCm39)	E573G	probably benign	Het
Aox4	A	T	1: 58,286,386 (GRCm39)	I673F	possibly damaging	Het
Arfgef1	A	T	1: 10,224,543 (GRCm39)	I1431N	probably damaging	Het
Cask	A	G	X: 13,531,760 (GRCm39)	M103V	possibly damaging	Het
Clba1	T	C	12: 112,779,211 (GRCm39)	Y283H	probably damaging	Het
Fam83h	T	C	15: 75,875,150 (GRCm39)	E729G	probably damaging	Het
Gnb4	T	C	3: 32,641,881 (GRCm39)	T249A	probably damaging	Het
Gpr12	A	G	5: 146,520,761 (GRCm39)	S54P	probably damaging	Het
Krt20	A	G	11: 99,322,756 (GRCm39)	V293A	probably damaging	Het
Lonrf1	A	G	8: 36,689,855 (GRCm39)	V706A	probably damaging	Het
Lrrc58	T	G	16: 37,701,632 (GRCm39)	C303W	probably damaging	Het
Mbnl2	A	G	14: 120,622,875 (GRCm39)	T138A	probably benign	Het
Mss51	G	A	14: 20,537,205 (GRCm39)	R88*	probably null	Het
Nup214	T	A	2: 31,924,423 (GRCm39)	S146T	probably damaging	Het
Otop2	G	A	11: 115,220,633 (GRCm39)	R491H	probably damaging	Het
Prkcz	A	T	4: 155,352,652 (GRCm39)	F492I	probably damaging	Het
Sgtb	T	C	13: 104,268,453 (GRCm39)	L163P	probably damaging	Het
Spsb3	T	C	17: 25,110,045 (GRCm39)	I365T	possibly damaging	Het
Tmem273	A	G	14: 32,527,133 (GRCm39)	I33M	probably damaging	Het
Trio	T	C	15: 27,902,781 (GRCm39)	I227V	probably benign	Het
Vdac1	G	A	11: 52,267,482 (GRCm39)	R93H	probably benign	Het
Wasf2	A	G	4: 132,903,857 (GRCm39)	T22A	probably benign	Het

Other mutations in Podnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02738:Podnl1	APN	8	84,858,824 (GRCm39)	missense	probably benign	0.31
IGL03151:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03197:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03198:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03290:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03368:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03493:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
PIT4472001:Podnl1	UTSW	8	84,854,477 (GRCm39)	missense
R1056:Podnl1	UTSW	8	84,855,905 (GRCm39)	missense	probably benign	0.00
R1962:Podnl1	UTSW	8	84,853,926 (GRCm39)	missense	probably benign	0.04
R4367:Podnl1	UTSW	8	84,853,897 (GRCm39)	missense	probably benign	0.03
R4412:Podnl1	UTSW	8	84,857,294 (GRCm39)	missense	probably benign	0.00
R4473:Podnl1	UTSW	8	84,858,614 (GRCm39)	missense	possibly damaging	0.89
R4715:Podnl1	UTSW	8	84,852,690 (GRCm39)	start gained	probably benign
R5009:Podnl1	UTSW	8	84,852,887 (GRCm39)	missense	probably benign	0.01
R5013:Podnl1	UTSW	8	84,852,965 (GRCm39)	missense	probably damaging	0.99
R5153:Podnl1	UTSW	8	84,857,272 (GRCm39)	missense	probably benign	0.00
R7596:Podnl1	UTSW	8	84,853,024 (GRCm39)	missense
R8289:Podnl1	UTSW	8	84,858,552 (GRCm39)	missense
R8343:Podnl1	UTSW	8	84,857,402 (GRCm39)	missense
R8715:Podnl1	UTSW	8	84,855,956 (GRCm39)	missense

Posted On

2016-08-02