Mutagenetix > Incidental Mutation

Incidental Mutation 'R5359:Zgrf1'

424224

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

MMRRC Submission

042938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5359 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127347138-127411672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127394814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 506 (M506K)

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: M1390K

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

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: M1390K

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: M1390K

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

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: M1390K

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: M506K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143570
Gene: ENSMUSG00000051278
AA Change: M506K

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

noncoding transcript
Transcript: ENSMUST00000197108

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5b1	T	A	19: 5,619,126 (GRCm39)	I182N	possibly damaging	Het
Arap2	A	T	5: 62,840,762 (GRCm39)	C701*	probably null	Het
Bcr	T	A	10: 75,001,917 (GRCm39)	F940L	probably damaging	Het
Cav2	A	T	6: 17,287,064 (GRCm39)		probably benign	Het
Cdk2	T	C	10: 128,539,857 (GRCm39)		probably benign	Het
Clic4	G	A	4: 134,944,446 (GRCm39)	A243V	probably benign	Het
Dap3	A	T	3: 88,838,296 (GRCm39)	V99D	probably damaging	Het
Dennd5a	T	C	7: 109,497,169 (GRCm39)	E1110G	probably damaging	Het
Dhx30	T	C	9: 109,922,203 (GRCm39)	N160D	probably damaging	Het
Dnai7	T	G	6: 145,142,618 (GRCm39)	T120P	probably damaging	Het
Dock9	A	G	14: 121,890,472 (GRCm39)	M268T	possibly damaging	Het
Dspp	T	A	5: 104,323,752 (GRCm39)	D298E	probably damaging	Het
Elane	A	G	10: 79,722,870 (GRCm39)	E92G	probably damaging	Het
Erp44	A	T	4: 48,211,704 (GRCm39)	D197E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gbf1	T	C	19: 46,272,164 (GRCm39)		probably null	Het
Gm1968	A	T	16: 29,777,617 (GRCm39)		noncoding transcript	Het
Hydin	T	A	8: 111,265,004 (GRCm39)	V2729E	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Iqgap1	T	C	7: 80,416,707 (GRCm39)	T106A	probably benign	Het
Kcnj6	G	C	16: 94,633,312 (GRCm39)	Y248*	probably null	Het
Mllt3	A	G	4: 87,759,164 (GRCm39)	S295P	probably benign	Het
Or2w1b	A	C	13: 21,300,437 (GRCm39)	T192P	probably damaging	Het
Pex11b	G	A	3: 96,551,229 (GRCm39)	C224Y	probably damaging	Het
Pik3c2g	A	G	6: 139,599,121 (GRCm39)	Y79C	probably damaging	Het
Plcz1	T	C	6: 139,974,178 (GRCm39)	Y88C	probably damaging	Het
Pole	A	G	5: 110,480,354 (GRCm39)	N99S	probably benign	Het
Pyroxd1	T	G	6: 142,307,717 (GRCm39)	Y496D	probably damaging	Het
Rasef	A	G	4: 73,689,565 (GRCm39)	L68P	probably damaging	Het
Rgs13	T	A	1: 144,015,322 (GRCm39)	M132L	probably damaging	Het
RP24-187P11.4	T	G	9: 109,349,944 (GRCm39)		noncoding transcript	Het
Rsph4a	A	G	10: 33,784,232 (GRCm39)	T285A	probably benign	Het
Ryr3	A	T	2: 112,606,186 (GRCm39)		probably null	Het
Slc30a1	T	A	1: 191,641,865 (GRCm39)	*504R	probably null	Het
Spcs1	T	C	14: 30,722,074 (GRCm39)	R156G	probably damaging	Het
Supv3l1	A	G	10: 62,268,178 (GRCm39)	F556L	probably damaging	Het
Thumpd2	C	T	17: 81,334,206 (GRCm39)	V461M	probably benign	Het
Timm50	A	G	7: 28,007,592 (GRCm39)	L158P	probably damaging	Het
Tnrc6c	T	C	11: 117,649,731 (GRCm39)		silent	Het
Ttn	G	A	2: 76,726,147 (GRCm39)	Q1807*	probably null	Het
Zdhhc14	A	G	17: 5,543,821 (GRCm39)	I34V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTAACTCATGAATAAGTCCACTC -3'
(R):5'- AATGCTGGAGCCAAGATGTG -3'

Sequencing Primer
(F):5'- CTAGGTCTCAGTCAGCTACAGTTAG -3'
(R):5'- CCAAGATGTGAAAGCAGAGTTCTG -3'

Posted On

2016-08-04