Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00392:Zfpl1'

5692

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfpl1

Ensembl Gene

ENSMUSG00000024792

Gene Name

zinc finger like protein 1

Synonyms

1500015B20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00392

Quality Score

Status

Chromosome

Chromosomal Location

6130792-6134986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6131137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 285 (R285L)

Ref Sequence

ENSEMBL: ENSMUSP00000025707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025704] [ENSMUST00000025707] [ENSMUST00000025711] [ENSMUST00000143303] [ENSMUST00000149347] [ENSMUST00000160448] [ENSMUST00000160712] [ENSMUST00000159832] [ENSMUST00000160977] [ENSMUST00000160590] [ENSMUST00000161548] [ENSMUST00000159859] [ENSMUST00000160233]

AlphaFold

Q9DB43

Predicted Effect

probably benign
Transcript: ENSMUST00000025704

SMART Domains

Protein: ENSMUSP00000025704
Gene: ENSMUSG00000024791

Domain	Start	End	E-Value	Type
low complexity region	17	34	N/A	INTRINSIC
Pfam:Sororin	88	228	4.1e-31	PFAM
low complexity region	251	264	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025707
AA Change: R285L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025707
Gene: ENSMUSG00000024792
AA Change: R285L

Domain	Start	End	E-Value	Type
RING	53	100	1.14e-1	SMART
low complexity region	149	160	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
transmembrane domain	265	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025711

SMART Domains

Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:COG2	56	191	2.6e-10	PFAM
Pfam:DUF2450	62	250	2.3e-14	PFAM
Pfam:Vps51	63	149	1.1e-26	PFAM
Pfam:Dor1	75	246	1.8e-19	PFAM
Pfam:Zw10	83	291	2.2e-8	PFAM
Pfam:Sec5	101	275	6.5e-24	PFAM
low complexity region	377	391	N/A	INTRINSIC
low complexity region	523	532	N/A	INTRINSIC
low complexity region	743	758	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143303

SMART Domains

Protein: ENSMUSP00000121339
Gene: ENSMUSG00000047733

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
transmembrane domain	82	99	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149347

SMART Domains

Protein: ENSMUSP00000116436
Gene: ENSMUSG00000047733

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160519

Predicted Effect

probably benign
Transcript: ENSMUST00000162374

Predicted Effect

probably benign
Transcript: ENSMUST00000160448

Predicted Effect

probably benign
Transcript: ENSMUST00000160712

SMART Domains

Protein: ENSMUSP00000125085
Gene: ENSMUSG00000024792

Domain	Start	End	E-Value	Type
RING	53	100	1.14e-1	SMART
low complexity region	149	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159832

SMART Domains

Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:COG2	56	191	2e-10	PFAM
Pfam:DUF2450	62	250	1.9e-14	PFAM
Pfam:Vps51	63	149	8.3e-27	PFAM
Pfam:Dor1	75	246	1.8e-19	PFAM
Pfam:Sec5	101	275	1.6e-19	PFAM
low complexity region	276	292	N/A	INTRINSIC
low complexity region	377	391	N/A	INTRINSIC
low complexity region	523	532	N/A	INTRINSIC
low complexity region	743	758	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160977

SMART Domains

Protein: ENSMUSP00000125176
Gene: ENSMUSG00000024792

Domain	Start	End	E-Value	Type
RING	53	100	1.14e-1	SMART
low complexity region	149	160	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160590

SMART Domains

Protein: ENSMUSP00000123857
Gene: ENSMUSG00000024797

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:Vps51	63	121	2.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161548

SMART Domains

Protein: ENSMUSP00000125459
Gene: ENSMUSG00000024792

Domain	Start	End	E-Value	Type
RING	53	100	1.14e-1	SMART
low complexity region	149	160	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159859

SMART Domains

Protein: ENSMUSP00000124857
Gene: ENSMUSG00000024792

Domain	Start	End	E-Value	Type
RING	53	100	1.14e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160233

SMART Domains

Protein: ENSMUSP00000124842
Gene: ENSMUSG00000024797

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	C	7: 80,727,757 (GRCm39)	Y296H	possibly damaging	Het
Armh3	T	G	19: 45,928,927 (GRCm39)	H389P	probably benign	Het
Brca2	A	G	5: 150,464,705 (GRCm39)	T1490A	probably benign	Het
Btaf1	A	T	19: 36,987,102 (GRCm39)	D1732V	probably damaging	Het
Capzb	T	C	4: 139,016,258 (GRCm39)	I273T	probably benign	Het
Carmil1	G	A	13: 24,278,474 (GRCm39)	T165I	probably damaging	Het
Cc2d2a	A	G	5: 43,881,722 (GRCm39)		probably benign	Het
Cdh22	A	G	2: 164,954,521 (GRCm39)	Y667H	possibly damaging	Het
Celsr1	T	A	15: 85,815,546 (GRCm39)	Q1823L	probably benign	Het
Cfap210	T	C	2: 69,602,328 (GRCm39)	H361R	probably benign	Het
Cntrl	T	C	2: 35,027,826 (GRCm39)		probably benign	Het
Dhx15	A	T	5: 52,314,924 (GRCm39)		probably benign	Het
Dip2c	A	T	13: 9,543,144 (GRCm39)	D30V	probably damaging	Het
Dyrk2	T	C	10: 118,695,749 (GRCm39)	D503G	probably damaging	Het
Enpp1	T	A	10: 24,521,325 (GRCm39)	I801F	possibly damaging	Het
Fnbp4	A	C	2: 90,581,966 (GRCm39)		probably benign	Het
Klk1b5	T	A	7: 43,865,928 (GRCm39)	W2R	probably benign	Het
Lama2	T	C	10: 27,064,261 (GRCm39)	K1240R	probably benign	Het
Matn2	A	G	15: 34,403,002 (GRCm39)	N409S	probably benign	Het
Mep1b	A	T	18: 21,217,243 (GRCm39)	K121*	probably null	Het
Mettl26	T	C	17: 26,095,098 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,224,845 (GRCm39)	E574G	probably damaging	Het
Nfkbie	G	A	17: 45,871,139 (GRCm39)		probably null	Het
Nlrc4	T	C	17: 74,753,529 (GRCm39)	R285G	probably benign	Het
Pax8	T	C	2: 24,333,144 (GRCm39)	Y66C	probably damaging	Het
Plxna2	A	G	1: 194,482,876 (GRCm39)	D1523G	probably damaging	Het
Pou2f1	A	G	1: 165,724,159 (GRCm39)		probably benign	Het
Prom1	A	G	5: 44,164,363 (GRCm39)		probably null	Het
Ptk6	T	C	2: 180,837,611 (GRCm39)	D436G	probably benign	Het
Robo4	T	A	9: 37,319,525 (GRCm39)	F592I	probably damaging	Het
Sec24c	C	A	14: 20,743,271 (GRCm39)	S964R	probably benign	Het
Sgcb	G	T	5: 73,793,021 (GRCm39)	N260K	possibly damaging	Het
Smarcd2	T	C	11: 106,156,730 (GRCm39)	D221G	probably damaging	Het
Unc13b	C	T	4: 43,240,285 (GRCm39)	R3569W	probably damaging	Het

Other mutations in Zfpl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0413:Zfpl1	UTSW	19	6,132,482 (GRCm39)	missense	probably damaging	0.97
R1447:Zfpl1	UTSW	19	6,132,649 (GRCm39)	missense	possibly damaging	0.88
R1827:Zfpl1	UTSW	19	6,131,901 (GRCm39)	missense	probably benign	0.39
R2155:Zfpl1	UTSW	19	6,134,459 (GRCm39)	missense	probably damaging	1.00
R4184:Zfpl1	UTSW	19	6,131,170 (GRCm39)	missense	probably damaging	1.00
R7241:Zfpl1	UTSW	19	6,131,943 (GRCm39)	missense	possibly damaging	0.47
R7538:Zfpl1	UTSW	19	6,134,432 (GRCm39)	nonsense	probably null
R8700:Zfpl1	UTSW	19	6,132,464 (GRCm39)	missense	probably benign
R9526:Zfpl1	UTSW	19	6,134,440 (GRCm39)	missense	probably damaging	1.00
R9715:Zfpl1	UTSW	19	6,134,074 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20