Mutagenetix > Incidental Mutation

Incidental Mutation 'R5887:Zgrf1'

456156

Institutional Source

Beutler Lab

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 #

R5887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127347138-127411672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127378414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 174 (Y174C)

Ref Sequence

ENSEMBL: ENSMUSP00000143570 (fasta)

Gene Model

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

AlphaFold

Q0VGT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043108
AA Change: Y1058C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: Y1058C

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

probably damaging
Transcript: ENSMUST00000196141
AA Change: Y1058C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: Y1058C

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

probably damaging
Transcript: ENSMUST00000196341
AA Change: Y174C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143570
Gene: ENSMUSG00000051278
AA Change: Y174C

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

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,892,124 (GRCm39)	Q129*	probably null	Het
Acad8	A	T	9: 26,890,620 (GRCm39)		probably null	Het
AK157302	T	C	13: 21,679,579 (GRCm39)	I35T	possibly damaging	Het
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Calcrl	A	T	2: 84,200,841 (GRCm39)	W68R	probably damaging	Het
Cd200l1	T	A	16: 45,238,279 (GRCm39)	L178F	probably damaging	Het
Cd59a	A	G	2: 103,934,546 (GRCm39)	R5G	probably damaging	Het
Chl1	C	T	6: 103,694,565 (GRCm39)	A1091V	probably benign	Het
Copg1	T	C	6: 87,879,279 (GRCm39)	F442L	probably damaging	Het
Creld1	T	C	6: 113,469,860 (GRCm39)	*421Q	probably null	Het
Crocc2	T	A	1: 93,121,838 (GRCm39)	H662Q	possibly damaging	Het
Csf2ra	G	A	19: 61,215,766 (GRCm39)	A13V	possibly damaging	Het
Cul3	T	C	1: 80,254,139 (GRCm39)	T546A	possibly damaging	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Dock6	T	A	9: 21,731,690 (GRCm39)	H1173L	probably damaging	Het
Dpysl4	T	C	7: 138,676,192 (GRCm39)	I328T	possibly damaging	Het
Dspp	G	A	5: 104,323,321 (GRCm39)	G155R	probably damaging	Het
Fbxo33	A	T	12: 59,251,545 (GRCm39)	C57*	probably null	Het
Frrs1	T	A	3: 116,690,399 (GRCm39)	V14D	probably benign	Het
Gm13199	C	T	2: 5,867,113 (GRCm39)	G96S	unknown	Het
Gpr155	A	T	2: 73,174,062 (GRCm39)	C754*	probably null	Het
Gpr62	A	T	9: 106,342,814 (GRCm39)	V38E	probably damaging	Het
Kcnt2	C	A	1: 140,353,104 (GRCm39)	P271H	probably damaging	Het
Kpna3	C	T	14: 61,640,461 (GRCm39)	V34I	probably benign	Het
Lamb1	C	T	12: 31,316,863 (GRCm39)	Q71*	probably null	Het
Lipk	T	C	19: 34,016,507 (GRCm39)	I245T	possibly damaging	Het
Lrp1b	T	G	2: 40,711,719 (GRCm39)	N3281T	possibly damaging	Het
Lrp5	A	C	19: 3,654,094 (GRCm39)	I1111S	probably benign	Het
Mmrn1	T	C	6: 60,964,058 (GRCm39)	V1020A	probably benign	Het
Or4c107	G	A	2: 88,789,098 (GRCm39)	C96Y	possibly damaging	Het
Or8b48	G	A	9: 38,493,080 (GRCm39)	C169Y	probably damaging	Het
Or8g34	T	C	9: 39,372,787 (GRCm39)	L17P	probably damaging	Het
Pcdha7	A	T	18: 37,108,960 (GRCm39)	T662S	probably damaging	Het
Pcdhga6	A	G	18: 37,841,612 (GRCm39)	D444G	probably damaging	Het
Pkd2	T	G	5: 104,646,405 (GRCm39)	D737E	probably damaging	Het
Plcd4	C	T	1: 74,590,249 (GRCm39)	R161W	probably damaging	Het
Prpf8	A	G	11: 75,391,734 (GRCm39)	Y1494C	possibly damaging	Het
Rad17	A	C	13: 100,770,369 (GRCm39)		probably null	Het
Rbm17	A	T	2: 11,590,485 (GRCm39)	F390Y	probably damaging	Het
Rhod	A	T	19: 4,489,315 (GRCm39)	L22Q	probably damaging	Het
Serpina1f	T	C	12: 103,656,046 (GRCm39)	D394G	possibly damaging	Het
Serpina1f	G	A	12: 103,659,890 (GRCm39)	Q131*	probably null	Het
Spocd1	A	T	4: 129,842,752 (GRCm39)	S56C	probably damaging	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Tasor	T	A	14: 27,188,254 (GRCm39)	L900*	probably null	Het
Tbx18	T	C	9: 87,595,566 (GRCm39)	D336G	possibly damaging	Het
Tfg	A	T	16: 56,514,779 (GRCm39)	Y135*	probably null	Het
Tjp2	A	G	19: 24,073,963 (GRCm39)	L1108P	probably benign	Het
Tmem150c	C	A	5: 100,243,524 (GRCm39)	V8L	probably benign	Het
Ttn	A	T	2: 76,746,789 (GRCm39)	H4753Q	probably benign	Het
Tyw1	T	A	5: 130,354,540 (GRCm39)	I589N	probably damaging	Het
Usp40	C	T	1: 87,927,592 (GRCm39)	R139Q	probably 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
IGL03122:Zgrf1	APN	3	127,381,782 (GRCm39)	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- GCTATGAGTCATTATCCTACTCATGAC -3'
(R):5'- TAGTGCGATGTCCCTCTTTTAAAG -3'

Sequencing Primer
(F):5'- AGAAATGTAATGTGATCCACTTGTAG -3'
(R):5'- GCGATGTCCCTCTTTTAAAGCTCAG -3'

Posted On

2017-02-15