Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03290:Podnl1'

415885

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: 0.096) question?

Stock #

IGL03290

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,703,423		probably benign	Het
Asb18	A	G	1: 90,014,574	S2P	probably damaging	Het
Atp2b2	A	G	6: 113,793,754	F398S	probably damaging	Het
BC034090	T	G	1: 155,226,110	D136A	probably damaging	Het
Ces5a	A	C	8: 93,519,632	F310V	probably damaging	Het
Chsy1	T	C	7: 66,171,031	V338A	probably benign	Het
Dbh	A	G	2: 27,174,932	E385G	probably damaging	Het
Dnah14	T	A	1: 181,763,978		probably benign	Het
F2rl1	A	G	13: 95,513,589	S262P	possibly damaging	Het
Fat2	T	C	11: 55,256,219	N3984D	probably benign	Het
Fbxo38	A	T	18: 62,526,163	H354Q	probably benign	Het
Fgf6	T	A	6: 127,024,132	V201D	probably damaging	Het
Gm16181	A	T	17: 35,223,957		probably benign	Het
Gm6811	T	C	17: 21,094,049		noncoding transcript	Het
Gna11	A	G	10: 81,530,937	F313S	probably damaging	Het
Gprc6a	C	T	10: 51,615,872	A523T	probably damaging	Het
Il22	T	C	10: 118,205,880		probably null	Het
Insr	T	C	8: 3,258,574	Y154C	probably damaging	Het
Irak4	T	A	15: 94,551,899	D86E	probably benign	Het
Itk	C	A	11: 46,334,937	W529L	probably damaging	Het
Klhl6	C	A	16: 19,947,137	A572S	probably benign	Het
Ldhc	C	T	7: 46,869,688	R112C	probably damaging	Het
Lrrc56	T	C	7: 141,199,772		probably benign	Het
Mdh2	A	G	5: 135,789,713	E274G	probably damaging	Het
N4bp1	G	T	8: 86,848,533	D711E	probably benign	Het
Ngly1	T	A	14: 16,281,866	I248K	probably damaging	Het
Olfr324	A	G	11: 58,598,323	N309S	probably damaging	Het
Olfr872	T	C	9: 20,260,260	I140T	probably damaging	Het
Pbrm1	A	G	14: 31,107,284	E1421G	probably damaging	Het
Pcca	G	A	14: 122,585,106	R112H	possibly damaging	Het
Pgrmc2	T	C	3: 41,068,626		probably benign	Het
Pogz	A	T	3: 94,875,091		probably benign	Het
Ppp1r3a	A	G	6: 14,754,772	Y159H	probably damaging	Het
Rax	T	C	18: 65,938,160	K135E	probably damaging	Het
Rbm7	T	A	9: 48,489,967	M154L	probably benign	Het
Rp1	A	G	1: 4,350,041	S283P	probably damaging	Het
Rpusd4	T	C	9: 35,267,977	S30P	probably benign	Het
Samd13	T	C	3: 146,646,315	T75A	probably benign	Het
Sfxn4	A	G	19: 60,860,070	W22R	probably damaging	Het
Sh3pxd2a	T	A	19: 47,424,516	R43W	probably damaging	Het
Smc5	A	G	19: 23,273,658	V54A	probably benign	Het
Snap47	A	G	11: 59,428,598	I238T	probably damaging	Het
Tecpr2	T	G	12: 110,967,833	I1309S	possibly damaging	Het
Trappc8	A	G	18: 20,820,935	L1310P	probably damaging	Het
Vmn2r61	T	A	7: 42,265,984	H118Q	probably benign	Het
Zbtb17	C	T	4: 141,466,933	T731I	probably damaging	Het
Zfp287	A	G	11: 62,715,236	F282L	probably damaging	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
IGL03368: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
R8289:Podnl1	UTSW	8	84131923	missense
R8343:Podnl1	UTSW	8	84130773	missense

Posted On

2016-08-02