Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4472001:Podnl1'

555867

Institutional Source

Beutler Lab

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 #

PIT4472001 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

84852618-84859156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84854477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 150 (V150M)

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

SMART Domains

Protein: ENSMUSP00000091073
Gene: ENSMUSG00000012889
AA Change: V150M

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

Coding Region Coverage

1x: 93.7%
3x: 90.8%
10x: 84.2%
20x: 70.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,502,613 (GRCm39)	P258T	probably damaging	Het
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
Bcas3	A	G	11: 85,422,726 (GRCm39)	I532V	probably damaging	Het
Cbr1	T	A	16: 93,406,692 (GRCm39)	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Cd300e	T	A	11: 114,945,336 (GRCm39)	I153F	possibly damaging	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cpvl	A	T	6: 53,873,464 (GRCm39)	F424Y	possibly damaging	Het
Cxcl16	C	T	11: 70,349,625 (GRCm39)	G80R	probably damaging	Het
Cyp2g1	T	C	7: 26,513,619 (GRCm39)	V186A	probably benign	Het
Cyp4f15	T	A	17: 32,921,798 (GRCm39)	M490K	probably damaging	Het
D630045J12Rik	A	T	6: 38,155,774 (GRCm39)	V1160D	probably damaging	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fgf5	T	A	5: 98,409,838 (GRCm39)	V129E	probably damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gcnt2	G	A	13: 41,071,413 (GRCm39)	V19M	probably benign	Het
Gga1	C	A	15: 78,777,836 (GRCm39)	A595D	probably damaging	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Gskip	C	T	12: 105,651,121 (GRCm39)		probably benign	Het
Ighv1-72	A	G	12: 115,721,620 (GRCm39)	V112A	probably damaging	Het
Krt16	T	A	11: 100,138,732 (GRCm39)	T185S	probably benign	Het
Lama1	T	C	17: 68,071,699 (GRCm39)	V862A		Het
Lats2	A	C	14: 57,936,814 (GRCm39)	Y558*	probably null	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mnx1	T	C	5: 29,679,105 (GRCm39)	E326G	unknown	Het
Mtmr10	A	G	7: 63,983,106 (GRCm39)	E471G	probably benign	Het
Or5p64	C	T	7: 107,855,310 (GRCm39)	V12M	possibly damaging	Het
Otog	G	A	7: 45,945,273 (GRCm39)	V2177M	probably damaging	Het
Ovgp1	A	G	3: 105,894,306 (GRCm39)	E693G	unknown	Het
Pclo	T	C	5: 14,763,182 (GRCm39)	M600T	possibly damaging	Het
Pdgfra	T	A	5: 75,340,907 (GRCm39)	M622K	probably damaging	Het
Pdxdc1	A	G	16: 13,663,209 (GRCm39)	L428P	probably damaging	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Pou4f3	A	G	18: 42,527,717 (GRCm39)	M4V	probably benign	Het
Ppp1r13b	G	A	12: 111,799,074 (GRCm39)	R864C	probably damaging	Het
R3hdm4	A	G	10: 79,749,389 (GRCm39)		probably null	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Sptb	G	A	12: 76,667,460 (GRCm39)	T879M	probably damaging	Het
Strip1	G	A	3: 107,535,486 (GRCm39)	A79V	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trim34a	T	A	7: 103,897,155 (GRCm39)	L73Q	probably damaging	Het
Trpv4	T	A	5: 114,764,984 (GRCm39)	T677S	probably damaging	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGAGAACTTCTATGTGGCCCAC -3'
(R):5'- TGCACAACTATGCCTCAGAC -3'

Sequencing Primer
(F):5'- AACAAGGTGAGCCTGTATCCCTG -3'
(R):5'- ACTATGCCTCAGACCCTCC -3'

Posted On

2019-06-07