Mutagenetix > Incidental Mutation

Incidental Mutation 'R1593:Zgrf1'

175601

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

MMRRC Submission

039630-MU

Accession Numbers

Essential gene?

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

Stock #

R1593 (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 127354675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 98 (V98E)

Ref Sequence

ENSEMBL: ENSMUSP00000143585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043108] [ENSMUST00000195955] [ENSMUST00000196141] [ENSMUST00000199888] [ENSMUST00000200490]

AlphaFold

Q0VGT4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043108
AA Change: V98E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: V98E

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: ENSMUST00000195955
AA Change: V98E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: V98E

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	82	1.6e-25	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196141
AA Change: V98E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: V98E

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

noncoding transcript
Transcript: ENSMUST00000196949

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199888
AA Change: V98E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278
AA Change: V98E

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

possibly damaging
Transcript: ENSMUST00000200490
AA Change: V98E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278
AA Change: V98E

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	T	11: 100,372,581 (GRCm39)	I902N	possibly damaging	Het
Acsl6	A	G	11: 54,214,134 (GRCm39)	D88G	probably damaging	Het
Adam1a	A	C	5: 121,657,706 (GRCm39)	I529S	probably benign	Het
Ap3b1	T	C	13: 94,638,435 (GRCm39)	V838A	unknown	Het
Arrdc2	T	C	8: 71,289,764 (GRCm39)	Y280C	probably damaging	Het
Atg10	T	C	13: 91,302,380 (GRCm39)	T53A	probably benign	Het
Ccdc136	T	C	6: 29,415,583 (GRCm39)	S699P	probably damaging	Het
Cdc23	C	A	18: 34,769,379 (GRCm39)	V462L	possibly damaging	Het
Clcn6	C	T	4: 148,099,051 (GRCm39)	A431T	probably benign	Het
Cntn6	T	G	6: 104,809,541 (GRCm39)	H525Q	possibly damaging	Het
Ctr9	T	C	7: 110,642,060 (GRCm39)	F296S	possibly damaging	Het
Ctsq	T	A	13: 61,183,986 (GRCm39)		probably null	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Epha6	A	T	16: 60,245,267 (GRCm39)	F311I	probably damaging	Het
Esrrg	A	T	1: 187,798,582 (GRCm39)	T150S	possibly damaging	Het
Exoc2	C	A	13: 31,040,744 (GRCm39)	R758L	possibly damaging	Het
Exosc7	G	C	9: 122,961,058 (GRCm39)	V242L	probably benign	Het
Fcho2	T	C	13: 98,921,315 (GRCm39)	D190G	possibly damaging	Het
Fgd6	T	C	10: 93,880,894 (GRCm39)	S583P	probably damaging	Het
Frmd4a	A	G	2: 4,477,999 (GRCm39)	Y60C	probably damaging	Het
Gldc	A	T	19: 30,091,150 (GRCm39)	I815N	probably damaging	Het
Grm2	A	T	9: 106,528,113 (GRCm39)	L257Q	probably damaging	Het
Hectd3	C	A	4: 116,854,217 (GRCm39)	T289K	possibly damaging	Het
Itgb4	T	C	11: 115,871,817 (GRCm39)	V207A	probably damaging	Het
Lamb3	A	G	1: 193,013,104 (GRCm39)	E443G	probably damaging	Het
Meis2	T	A	2: 115,830,745 (GRCm39)	D256V	probably damaging	Het
Muc4	A	G	16: 32,754,686 (GRCm38)	N1520S	probably benign	Het
Nckap1l	A	G	15: 103,387,281 (GRCm39)	R719G	probably null	Het
Or6c210	A	T	10: 129,496,094 (GRCm39)	R140*	probably null	Het
Pabpc6	A	T	17: 9,886,742 (GRCm39)	M603K	probably damaging	Het
Pcnx2	C	A	8: 126,486,012 (GRCm39)	R1862L	probably benign	Het
Pgap6	T	A	17: 26,337,381 (GRCm39)	I399N	possibly damaging	Het
Pon2	T	C	6: 5,273,003 (GRCm39)	D122G	probably benign	Het
Ppig	T	A	2: 69,579,425 (GRCm39)	W378R	unknown	Het
Ralgapa1	T	A	12: 55,817,488 (GRCm39)	E389D	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rarg	A	G	15: 102,148,376 (GRCm39)	F233L	probably damaging	Het
Rasgrp2	T	C	19: 6,453,490 (GRCm39)	F90L	possibly damaging	Het
Rrp12	T	A	19: 41,851,680 (GRCm39)	H1285L	probably benign	Het
Slc16a13	C	A	11: 70,109,908 (GRCm39)	A198S	probably benign	Het
Spag9	A	G	11: 93,988,059 (GRCm39)	D441G	probably damaging	Het
Stxbp5l	A	G	16: 36,936,414 (GRCm39)	F1099S	probably damaging	Het
Tex19.1	T	A	11: 121,038,079 (GRCm39)	W146R	probably damaging	Het
Tmod3	T	C	9: 75,418,445 (GRCm39)	D197G	probably benign	Het
Tpp2	A	G	1: 44,014,593 (GRCm39)	H644R	probably benign	Het
Trpm2	A	G	10: 77,778,910 (GRCm39)	V352A	possibly damaging	Het
Tulp1	T	C	17: 28,581,675 (GRCm39)	K233E	probably damaging	Het
Vsir	A	G	10: 60,193,737 (GRCm39)	T67A	possibly damaging	Het
Wdr49	T	C	3: 75,304,248 (GRCm39)	N487S	probably benign	Het
Zbtb20	A	G	16: 43,429,786 (GRCm39)	N99S	probably damaging	Het
Zfp583	C	T	7: 6,320,008 (GRCm39)	G335S	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
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

Predicted Primers

PCR Primer
(F):5'- TGAACAGTTGAAGGATTTGCTGCTTGA -3'
(R):5'- GGGCCAGGGTTCTCATCACCAA -3'

Sequencing Primer
(F):5'- ACTGCATCTTGTTCATTGCTGG -3'
(R):5'- ttcaaatgctatcccaaaagtcc -3'

Posted On

2014-04-24