Mutagenetix > Incidental Mutation

Incidental Mutation 'R6087:Zgrf1'

484598

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

MMRRC Submission

044244-MU

Accession Numbers

Essential gene?

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

Stock #

R6087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127347138-127411672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127409135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1703 (L1703H)

Ref Sequence

ENSEMBL: ENSMUSP00000143761 (fasta)

Gene Model

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

AlphaFold

Q0VGT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043108
AA Change: L1703H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: L1703H

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: L1703H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: L1703H

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 benign
Transcript: ENSMUST00000196341

SMART Domains

Protein: ENSMUSP00000143570
Gene: ENSMUSG00000051278

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,119,621 (GRCm39)	K126R	possibly damaging	Het
Adam7	A	T	14: 68,748,206 (GRCm39)	C548S	probably damaging	Het
Adar	C	A	3: 89,652,897 (GRCm39)	H260N	probably benign	Het
Ak9	A	G	10: 41,258,828 (GRCm39)	E775G	probably benign	Het
Arhgap35	T	C	7: 16,297,568 (GRCm39)	Y499C	probably damaging	Het
Bank1	A	G	3: 135,772,190 (GRCm39)	L480P	probably damaging	Het
Cep135	G	T	5: 76,763,638 (GRCm39)		probably null	Het
Cnga1	G	T	5: 72,768,155 (GRCm39)	A177E	probably damaging	Het
Cubn	T	A	2: 13,432,658 (GRCm39)	D1221V	probably damaging	Het
Cyp2d40	T	C	15: 82,648,205 (GRCm39)	Y36C	possibly damaging	Het
Dock8	C	A	19: 25,138,438 (GRCm39)	N1254K	probably benign	Het
Elapor2	T	C	5: 9,449,255 (GRCm39)	S128P	probably damaging	Het
Fam13b	C	T	18: 34,620,192 (GRCm39)	V231I	possibly damaging	Het
Fbxo8	T	A	8: 57,022,353 (GRCm39)	Y122N	probably damaging	Het
Fmo2	T	A	1: 162,708,002 (GRCm39)	I378F	probably benign	Het
Golga3	A	T	5: 110,352,812 (GRCm39)	Q861L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ighv3-8	G	T	12: 114,286,000 (GRCm39)	A114E	probably damaging	Het
Itga3	C	T	11: 94,943,269 (GRCm39)		probably null	Het
Kank1	G	A	19: 25,387,088 (GRCm39)	V254I	probably benign	Het
Lipo5	A	T	19: 33,443,375 (GRCm39)	I147K	unknown	Het
Lrfn2	A	G	17: 49,378,154 (GRCm39)	S412G	probably benign	Het
Lrrn3	T	C	12: 41,503,534 (GRCm39)	N261S	possibly damaging	Het
Mical2	C	T	7: 111,917,692 (GRCm39)	Q350*	probably null	Het
Nras	T	C	3: 102,967,637 (GRCm39)	F78L	probably damaging	Het
Nudt9	A	G	5: 104,198,679 (GRCm39)	I65V	probably benign	Het
Or10ag59	A	G	2: 87,406,259 (GRCm39)	D277G	probably benign	Het
Or4f17-ps1	A	T	2: 111,358,526 (GRCm39)	E289V	possibly damaging	Het
Oscar	G	A	7: 3,614,311 (GRCm39)	P143S	probably benign	Het
Pla2g4d	C	T	2: 120,100,487 (GRCm39)	G615D	probably damaging	Het
Plekha1	T	G	7: 130,502,301 (GRCm39)	S175A	probably benign	Het
Psg27	T	C	7: 18,290,869 (GRCm39)	K445E	probably benign	Het
Rad51c	A	G	11: 87,271,705 (GRCm39)	Y318H	probably benign	Het
Ret	G	T	6: 118,153,252 (GRCm39)	T472K	possibly damaging	Het
Tarbp1	T	C	8: 127,155,709 (GRCm39)	D1343G	probably benign	Het
Top2b	C	A	14: 16,409,864 (GRCm38)	R844S	probably benign	Het
Vmn1r171	T	A	7: 23,332,429 (GRCm39)	M218K	probably damaging	Het
Vmn2r89	A	T	14: 51,695,033 (GRCm39)		probably null	Het
Zc3h13	T	A	14: 75,568,149 (GRCm39)	D1147E	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
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
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'- CCCACGCTGTGTTTCTATAACG -3'
(R):5'- TACCAAGTGAACTACTGCAAGTG -3'

Sequencing Primer
(F):5'- TTCTATAACGTCACGGGAGC -3'
(R):5'- GTGCAATACCAAACACTATAATGCAG -3'

Posted On

2017-08-16