Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03122:Zgrf1'

410017

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL03122

Quality Score

Status

Chromosome

Chromosomal Location

127347138-127411672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127381782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 310 (L310M)

Ref Sequence

ENSEMBL: ENSMUSP00000143570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043108] [ENSMUST00000196141] [ENSMUST00000196341] [ENSMUST00000199888] [ENSMUST00000200490]

AlphaFold

Q0VGT4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043108
AA Change: L1194M

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: L1194M

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	81	3.7e-23	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC
low complexity region	896	906	N/A	INTRINSIC
Pfam:zf-GRF	1109	1153	1.5e-17	PFAM
low complexity region	1316	1328	N/A	INTRINSIC
Pfam:AAA_11	1501	1608	1.6e-21	PFAM
Pfam:AAA_12	1616	1802	1.3e-51	PFAM
coiled coil region	1833	1861	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196141
AA Change: L1194M

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: L1194M

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	81	3.7e-23	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC
low complexity region	896	906	N/A	INTRINSIC
Pfam:zf-GRF	1109	1153	1.5e-17	PFAM
low complexity region	1316	1328	N/A	INTRINSIC
Pfam:AAA_11	1501	1608	1.6e-21	PFAM
Pfam:AAA_12	1616	1802	1.3e-51	PFAM
coiled coil region	1833	1861	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196341
AA Change: L310M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143570
Gene: ENSMUSG00000051278
AA Change: L310M

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC
Pfam:zf-GRF	225	269	6.7e-15	PFAM
low complexity region	432	444	N/A	INTRINSIC
Pfam:AAA_11	491	659	7.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199888

SMART Domains

Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	82	3.5e-22	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200490

SMART Domains

Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	81	3.4e-20	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	G	A	16: 56,590,725 (GRCm39)		probably benign	Het
Afap1l1	T	C	18: 61,866,902 (GRCm39)	D719G	probably benign	Het
Amph	C	T	13: 19,287,113 (GRCm39)	T274M	probably damaging	Het
Atp2c2	T	A	8: 120,469,414 (GRCm39)	D396E	possibly damaging	Het
Atpaf1	T	C	4: 115,648,475 (GRCm39)	I164T	probably damaging	Het
Avpr1b	C	A	1: 131,528,257 (GRCm39)	P260Q	probably damaging	Het
Cacna1a	T	C	8: 85,189,305 (GRCm39)		probably benign	Het
Cald1	A	G	6: 34,741,963 (GRCm39)	I449V	probably damaging	Het
Ccdc24	A	G	4: 117,728,942 (GRCm39)		probably null	Het
Cdcp3	A	G	7: 130,798,243 (GRCm39)	Q84R	possibly damaging	Het
Cenpk	C	A	13: 104,378,885 (GRCm39)	Q134K	probably damaging	Het
Clasp1	A	G	1: 118,438,007 (GRCm39)	N373D	probably damaging	Het
Col7a1	T	A	9: 108,790,751 (GRCm39)	S1042T	unknown	Het
Cry2	G	A	2: 92,243,640 (GRCm39)	R439C	probably damaging	Het
Dip2a	G	T	10: 76,110,880 (GRCm39)	D1138E	probably benign	Het
Dlgap3	T	C	4: 127,089,018 (GRCm39)	S205P	possibly damaging	Het
Echdc2	T	A	4: 108,022,777 (GRCm39)	S18T	probably benign	Het
Efcab2	T	A	1: 178,265,042 (GRCm39)	V36E	probably damaging	Het
Galk1	A	T	11: 115,901,065 (GRCm39)		probably null	Het
Hoxc11	A	T	15: 102,863,390 (GRCm39)	N144Y	probably damaging	Het
Ift140	T	A	17: 25,305,884 (GRCm39)	C824S	probably damaging	Het
Inf2	A	G	12: 112,570,663 (GRCm39)	S401G	probably benign	Het
Kcnn1	T	G	8: 71,307,724 (GRCm39)	D106A	probably damaging	Het
Lama4	A	G	10: 38,943,959 (GRCm39)	N754S	probably benign	Het
Marchf6	A	G	15: 31,478,439 (GRCm39)		probably null	Het
Nlrp1b	A	C	11: 71,072,659 (GRCm39)	C395G	probably benign	Het
Or2n1d	T	C	17: 38,646,192 (GRCm39)	V48A	probably benign	Het
Or4k2	A	T	14: 50,424,461 (GRCm39)	M71K	probably damaging	Het
Or5ac15	T	C	16: 58,939,801 (GRCm39)	M211V	probably benign	Het
Or9q1	A	G	19: 13,805,014 (GRCm39)	S249P	possibly damaging	Het
Scel	A	G	14: 103,836,842 (GRCm39)	R477G	possibly damaging	Het
Sdk2	A	G	11: 113,732,894 (GRCm39)	S984P	probably damaging	Het
Slc4a7	C	T	14: 14,782,040 (GRCm38)		probably benign	Het
Tas2r103	A	G	6: 133,013,872 (GRCm39)	S65P	probably damaging	Het
Tnip2	T	C	5: 34,661,095 (GRCm39)	E119G	possibly damaging	Het

Other mutations in Zgrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Zgrf1	APN	3	127,381,790 (GRCm39)	splice site	probably benign
IGL01153:Zgrf1	APN	3	127,396,055 (GRCm39)	missense	probably damaging	1.00
IGL01330:Zgrf1	APN	3	127,377,656 (GRCm39)	missense	probably damaging	1.00
IGL01501:Zgrf1	APN	3	127,396,211 (GRCm39)	splice site	probably null
IGL01827:Zgrf1	APN	3	127,409,930 (GRCm39)	missense	probably benign	0.06
IGL02600:Zgrf1	APN	3	127,394,623 (GRCm39)	splice site	probably benign
IGL03365:Zgrf1	APN	3	127,392,423 (GRCm39)	missense	possibly damaging	0.48
R0015_Zgrf1_014	UTSW	3	127,349,046 (GRCm39)	splice site	probably benign
R1298_Zgrf1_204	UTSW	3	127,377,538 (GRCm39)	missense	possibly damaging	0.95
R7175_zgrf1_533	UTSW	3	127,357,239 (GRCm39)	missense	probably damaging	1.00
R0015:Zgrf1	UTSW	3	127,349,046 (GRCm39)	splice site	probably benign
R0243:Zgrf1	UTSW	3	127,409,095 (GRCm39)	missense	probably damaging	0.99
R0468:Zgrf1	UTSW	3	127,355,690 (GRCm39)	missense	possibly damaging	0.72
R0497:Zgrf1	UTSW	3	127,378,299 (GRCm39)	splice site	probably benign
R0505:Zgrf1	UTSW	3	127,366,887 (GRCm39)	missense	probably benign	0.30
R0511:Zgrf1	UTSW	3	127,378,309 (GRCm39)	missense	possibly damaging	0.93
R0539:Zgrf1	UTSW	3	127,408,841 (GRCm39)	missense	probably damaging	1.00
R0617:Zgrf1	UTSW	3	127,381,687 (GRCm39)	missense	probably benign	0.39
R1298:Zgrf1	UTSW	3	127,377,538 (GRCm39)	missense	possibly damaging	0.95
R1353:Zgrf1	UTSW	3	127,405,452 (GRCm39)	missense	probably damaging	1.00
R1593:Zgrf1	UTSW	3	127,354,675 (GRCm39)	missense	possibly damaging	0.86
R1846:Zgrf1	UTSW	3	127,409,112 (GRCm39)	missense	probably damaging	1.00
R1912:Zgrf1	UTSW	3	127,356,786 (GRCm39)	missense	probably benign
R2062:Zgrf1	UTSW	3	127,406,999 (GRCm39)	missense	probably damaging	1.00
R2064:Zgrf1	UTSW	3	127,406,999 (GRCm39)	missense	probably damaging	1.00
R2065:Zgrf1	UTSW	3	127,406,999 (GRCm39)	missense	probably damaging	1.00
R2066:Zgrf1	UTSW	3	127,406,999 (GRCm39)	missense	probably damaging	1.00
R2067:Zgrf1	UTSW	3	127,406,999 (GRCm39)	missense	probably damaging	1.00
R2256:Zgrf1	UTSW	3	127,355,646 (GRCm39)	missense	probably benign	0.18
R2321:Zgrf1	UTSW	3	127,356,056 (GRCm39)	nonsense	probably null
R2381:Zgrf1	UTSW	3	127,349,863 (GRCm39)	missense	probably benign	0.02
R2913:Zgrf1	UTSW	3	127,392,356 (GRCm39)	missense	possibly damaging	0.65
R3147:Zgrf1	UTSW	3	127,377,797 (GRCm39)	missense	possibly damaging	0.84
R3236:Zgrf1	UTSW	3	127,407,024 (GRCm39)	missense	probably damaging	1.00
R3237:Zgrf1	UTSW	3	127,407,024 (GRCm39)	missense	probably damaging	1.00
R4433:Zgrf1	UTSW	3	127,355,727 (GRCm39)	missense	probably benign
R4441:Zgrf1	UTSW	3	127,379,786 (GRCm39)	missense	possibly damaging	0.45
R4457:Zgrf1	UTSW	3	127,389,578 (GRCm39)	missense	probably damaging	1.00
R4498:Zgrf1	UTSW	3	127,379,749 (GRCm39)	nonsense	probably null
R4598:Zgrf1	UTSW	3	127,394,679 (GRCm39)	missense	probably benign	0.14
R4701:Zgrf1	UTSW	3	127,392,353 (GRCm39)	missense	probably benign	0.03
R4898:Zgrf1	UTSW	3	127,396,085 (GRCm39)	missense	probably damaging	1.00
R4944:Zgrf1	UTSW	3	127,355,517 (GRCm39)	nonsense	probably null
R5256:Zgrf1	UTSW	3	127,396,094 (GRCm39)	missense	probably damaging	1.00
R5294:Zgrf1	UTSW	3	127,394,629 (GRCm39)	missense	probably benign	0.14
R5358:Zgrf1	UTSW	3	127,361,352 (GRCm39)	critical splice donor site	probably null
R5359:Zgrf1	UTSW	3	127,394,814 (GRCm39)	missense	possibly damaging	0.95
R5447:Zgrf1	UTSW	3	127,356,768 (GRCm39)	missense	possibly damaging	0.73
R5569:Zgrf1	UTSW	3	127,354,674 (GRCm39)	missense	probably benign	0.33
R5887:Zgrf1	UTSW	3	127,378,414 (GRCm39)	missense	probably damaging	1.00
R5914:Zgrf1	UTSW	3	127,354,672 (GRCm39)	missense	probably damaging	0.99
R5925:Zgrf1	UTSW	3	127,366,853 (GRCm39)	missense	possibly damaging	0.84
R5936:Zgrf1	UTSW	3	127,355,902 (GRCm39)	missense	possibly damaging	0.72
R6087:Zgrf1	UTSW	3	127,409,135 (GRCm39)	missense	probably damaging	1.00
R6089:Zgrf1	UTSW	3	127,389,642 (GRCm39)	missense	probably damaging	1.00
R6181:Zgrf1	UTSW	3	127,381,590 (GRCm39)	missense	probably damaging	1.00
R6277:Zgrf1	UTSW	3	127,392,461 (GRCm39)	missense	possibly damaging	0.81
R6441:Zgrf1	UTSW	3	127,381,683 (GRCm39)	missense	possibly damaging	0.93
R6659:Zgrf1	UTSW	3	127,410,155 (GRCm39)	missense	probably damaging	0.99
R6857:Zgrf1	UTSW	3	127,375,096 (GRCm39)	missense	probably damaging	0.99
R6932:Zgrf1	UTSW	3	127,353,281 (GRCm39)	critical splice donor site	probably null
R7008:Zgrf1	UTSW	3	127,355,421 (GRCm39)	missense	probably benign	0.18
R7175:Zgrf1	UTSW	3	127,357,239 (GRCm39)	missense	probably damaging	1.00
R7264:Zgrf1	UTSW	3	127,357,218 (GRCm39)	missense	probably benign	0.00
R7272:Zgrf1	UTSW	3	127,392,409 (GRCm39)	missense	probably damaging	0.99
R7298:Zgrf1	UTSW	3	127,377,299 (GRCm39)	nonsense	probably null
R7412:Zgrf1	UTSW	3	127,356,720 (GRCm39)	missense	probably benign	0.06
R7836:Zgrf1	UTSW	3	127,357,080 (GRCm39)	missense	probably damaging	0.96
R7945:Zgrf1	UTSW	3	127,356,409 (GRCm39)	missense	probably benign	0.37
R7996:Zgrf1	UTSW	3	127,389,573 (GRCm39)	missense	possibly damaging	0.94
R8165:Zgrf1	UTSW	3	127,357,032 (GRCm39)	missense	possibly damaging	0.76
R8198:Zgrf1	UTSW	3	127,389,673 (GRCm39)	critical splice donor site	probably null
R8296:Zgrf1	UTSW	3	127,377,644 (GRCm39)	missense	probably damaging	0.99
R8298:Zgrf1	UTSW	3	127,408,878 (GRCm39)	missense	probably damaging	1.00
R8341:Zgrf1	UTSW	3	127,354,564 (GRCm39)	nonsense	probably null
R8445:Zgrf1	UTSW	3	127,379,854 (GRCm39)	critical splice donor site	probably null
R9088:Zgrf1	UTSW	3	127,377,326 (GRCm39)	missense	probably benign	0.21
R9236:Zgrf1	UTSW	3	127,378,312 (GRCm39)	missense	probably benign	0.09
R9250:Zgrf1	UTSW	3	127,379,797 (GRCm39)	missense	probably damaging	1.00
R9253:Zgrf1	UTSW	3	127,392,428 (GRCm39)	missense	probably damaging	1.00
R9464:Zgrf1	UTSW	3	127,377,741 (GRCm39)	missense	probably benign	0.03
R9647:Zgrf1	UTSW	3	127,355,251 (GRCm39)	missense	probably benign	0.02
R9680:Zgrf1	UTSW	3	127,409,216 (GRCm39)	missense	probably benign	0.38
RF015:Zgrf1	UTSW	3	127,356,882 (GRCm39)	missense	probably benign	0.02

Posted On

2016-08-02