Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03197:Podnl1'

412875

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: 0.082) question?

Stock #

IGL03197

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,698,541 (GRCm39)	W189R	probably damaging	Het
Abcb7	A	T	X: 103,327,797 (GRCm39)	M704K	possibly damaging	Het
Anp32e	A	G	3: 95,844,364 (GRCm39)	D71G	probably damaging	Het
Asphd1	T	C	7: 126,545,298 (GRCm39)	D353G	probably damaging	Het
Baz2b	T	C	2: 59,731,898 (GRCm39)	K2047E	possibly damaging	Het
Cyp2c39	G	T	19: 39,555,361 (GRCm39)	V394F	probably damaging	Het
Ddx43	G	A	9: 78,325,402 (GRCm39)	M482I	probably benign	Het
Dnah2	A	T	11: 69,350,089 (GRCm39)	V2348E	probably damaging	Het
Fam135a	A	G	1: 24,083,263 (GRCm39)	F304L	probably damaging	Het
Gabra3	A	G	X: 71,583,734 (GRCm39)	I66T	possibly damaging	Het
Irf4	A	T	13: 30,947,503 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,395,475 (GRCm39)	D578G	probably benign	Het
Lrig1	A	G	6: 94,583,099 (GRCm39)	S1006P	probably benign	Het
Mfsd14a	A	C	3: 116,430,012 (GRCm39)	S307A	probably benign	Het
Mill1	A	G	7: 17,998,590 (GRCm39)	T267A	probably benign	Het
Nfyc	C	A	4: 120,630,958 (GRCm39)	D62Y	probably damaging	Het
Nin	T	C	12: 70,073,584 (GRCm39)	T1190A	probably benign	Het
Nup42	T	C	5: 24,372,463 (GRCm39)	S84P	probably damaging	Het
Ociad1	T	C	5: 73,451,675 (GRCm39)	S15P	probably benign	Het
Or4c104	A	T	2: 88,586,545 (GRCm39)	I158K	probably damaging	Het
Or6c69c	A	T	10: 129,910,548 (GRCm39)	I90F	probably damaging	Het
Or7g25	A	G	9: 19,160,098 (GRCm39)	I199T	probably benign	Het
Pcdhb11	T	A	18: 37,555,477 (GRCm39)	L269*	probably null	Het
Pigo	A	C	4: 43,022,103 (GRCm39)	M352R	possibly damaging	Het
Plch1	T	C	3: 63,660,591 (GRCm39)	M343V	probably damaging	Het
Prkag1	A	G	15: 98,713,058 (GRCm39)		probably benign	Het
Rasa4	A	G	5: 136,130,866 (GRCm39)	K379R	probably damaging	Het
Rraga	G	A	4: 86,494,513 (GRCm39)	A120T	probably damaging	Het
Serpina3a	C	T	12: 104,082,500 (GRCm39)	A91V	probably damaging	Het
Sik2	T	C	9: 50,807,073 (GRCm39)	E779G	probably damaging	Het
Slc15a3	T	G	19: 10,832,443 (GRCm39)		probably null	Het
Smc1b	C	T	15: 84,955,064 (GRCm39)	D1063N	possibly damaging	Het
Speer1e	T	G	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Speer1k	T	A	5: 11,000,501 (GRCm39)		probably benign	Het
Srsf12	G	A	4: 33,231,040 (GRCm39)	G183E	probably damaging	Het
Taf8	A	G	17: 47,809,127 (GRCm39)	S112P	probably benign	Het
Trhde	A	G	10: 114,249,213 (GRCm39)	L851P	probably benign	Het
Wapl	G	T	14: 34,467,588 (GRCm39)	V1182F	possibly damaging	Het
Zfp326	A	G	5: 106,039,059 (GRCm39)	I231V	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
IGL03198:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03225: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