Mutagenetix > Incidental Mutations

Incidental Mutation 'R4701:Zgrf1'

356006

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

MMRRC Submission

041949-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127553489-127618023 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127598704 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1291 (T1291I)

Ref Sequence

ENSEMBL: ENSMUSP00000143761 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043108
AA Change: T1291I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: T1291I

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: ENSMUST00000196141
AA Change: T1291I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: T1291I

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
AA Change: T407I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143570
Gene: ENSMUSG00000051278
AA Change: T407I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (108/112)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,411,160	I196V	probably benign	Het
Aass	T	A	6: 23,075,856	K761*	probably null	Het
Abca13	A	G	11: 9,292,306	T1390A	possibly damaging	Het
Abhd16a	T	C	17: 35,096,606		probably null	Het
Acad11	C	T	9: 104,095,565	Q486*	probably null	Het
Actl9	T	C	17: 33,433,935	L323P	probably benign	Het
Adam12	T	A	7: 133,916,462	I650F	possibly damaging	Het
Adgre4	A	T	17: 55,784,971	D77V	probably damaging	Het
Ankrd26	A	G	6: 118,506,485	F1586S	possibly damaging	Het
Anpep	T	C	7: 79,839,465	T320A	probably benign	Het
Arl15	T	A	13: 113,967,725	C133S	probably benign	Het
Ascc3	A	G	10: 50,720,664	N1230S	possibly damaging	Het
Atf4	T	A	15: 80,257,417	I336K	probably damaging	Het
Atp7b	A	T	8: 22,000,121	S1044T	probably benign	Het
Atp8b4	A	G	2: 126,414,293	F249L	probably damaging	Het
AU021092	G	T	16: 5,212,193	N319K	probably benign	Het
Bbs4	A	G	9: 59,323,519	V440A	probably benign	Het
Bpifb4	G	T	2: 153,950,385	G450C	probably damaging	Het
Cadm1	G	A	9: 47,818,822		probably benign	Het
Ccser2	G	A	14: 36,938,697	L500F	probably damaging	Het
Cd22	T	A	7: 30,876,153	I155F	probably damaging	Het
Cdkl4	A	T	17: 80,543,652	V207E	probably damaging	Het
Cfap65	T	C	1: 74,918,908	D947G	probably damaging	Het
Cntn6	T	C	6: 104,804,360	V397A	probably benign	Het
Cpox	T	A	16: 58,677,969	Y388*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dda1	T	A	8: 71,473,810	Y58N	probably damaging	Het
Dennd4a	C	T	9: 64,897,357	T1326I	possibly damaging	Het
Eps8l2	A	T	7: 141,357,260	I338F	probably damaging	Het
Fbxo42	A	G	4: 141,199,809	T467A	probably benign	Het
Flt4	T	C	11: 49,626,808	F319S	possibly damaging	Het
Fmn1	A	T	2: 113,584,071	Y895F	possibly damaging	Het
Gm6887	C	A	7: 42,465,093		noncoding transcript	Het
Grid2	A	G	6: 64,665,915	D887G	probably benign	Het
Grm6	C	T	11: 50,863,010	P714S	probably damaging	Het
Gsto2	A	G	19: 47,884,656	I157V	probably benign	Het
Il15ra	A	G	2: 11,718,345		probably null	Het
Impg1	A	G	9: 80,314,400	F713L	probably benign	Het
Jag1	T	A	2: 137,094,456	T373S	probably benign	Het
Kcnh3	T	A	15: 99,241,945	L904Q	probably benign	Het
Kctd19	C	A	8: 105,390,429	G356V	possibly damaging	Het
Kdm5b	T	A	1: 134,606,012		probably benign	Het
Kif1a	T	C	1: 93,078,835	I37V	probably damaging	Het
Lama5	G	A	2: 180,191,696	R1508C	probably damaging	Het
Lamb1	T	A	12: 31,266,848	C65*	probably null	Het
Lingo1	A	G	9: 56,620,258	F349S	probably damaging	Het
Loxl4	G	A	19: 42,607,613	H147Y	probably benign	Het
Lrrn4cl	T	A	19: 8,852,055	N132K	probably damaging	Het
Med17	A	T	9: 15,270,360	H31Q	probably damaging	Het
Med23	A	T	10: 24,893,648	L476F	probably damaging	Het
Mgst1	A	T	6: 138,150,838	D66V	probably damaging	Het
Mroh2a	T	C	1: 88,234,612		probably null	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Muc4	A	T	16: 32,755,846		probably benign	Het
Myo18a	C	T	11: 77,817,665	T30M	probably damaging	Het
Ncapg2	G	T	12: 116,440,618	R903L	probably benign	Het
Nme1	A	G	11: 93,965,908	I9T	probably damaging	Het
Nmt2	T	A	2: 3,322,641	I357N	probably benign	Het
Nphp4	T	C	4: 152,496,659	F100S	probably damaging	Het
Oca2	C	A	7: 56,255,002	T72K	probably benign	Het
Olfr1411	C	A	1: 92,597,438	D306E	probably benign	Het
Olfr625-ps1	G	A	7: 103,683,062	V105M	probably damaging	Het
Olfr676	A	T	7: 105,035,591	D131V	probably damaging	Het
Olfr677	A	T	7: 105,056,879	D211V	probably damaging	Het
Olfr871	T	C	9: 20,212,625	I92T	probably damaging	Het
Plce1	A	T	19: 38,725,007	T1240S	probably benign	Het
Plch1	A	T	3: 63,699,496		probably null	Het
Plxna4	T	C	6: 32,516,688	D331G	probably damaging	Het
Ppp1r3a	T	C	6: 14,718,993	T641A	probably benign	Het
Rab32	A	G	10: 10,550,854	L116P	probably benign	Het
Recql4	C	T	15: 76,708,585	C302Y	probably damaging	Het
Rorc	G	C	3: 94,391,710	E391Q	probably null	Het
Saa4	A	T	7: 46,731,627	F24I	possibly damaging	Het
Sall1	T	A	8: 89,031,160	K772M	probably damaging	Het
Sdk1	T	G	5: 142,185,231	L1950V	probably damaging	Het
Sil1	T	C	18: 35,266,896	E352G	probably benign	Het
Slc26a3	C	T	12: 31,447,774	P59L	probably damaging	Het
Smco2	T	C	6: 146,861,942		probably benign	Het
Sppl3	A	G	5: 115,103,313		probably null	Het
St6gal2	T	A	17: 55,496,344	V360D	probably damaging	Het
Stard9	G	A	2: 120,705,713	R345Q	possibly damaging	Het
Susd4	T	A	1: 182,892,061	Y414N	probably damaging	Het
Tenm4	T	C	7: 96,895,349	Y2191H	probably damaging	Het
Tln2	A	G	9: 67,346,527	V754A	probably benign	Het
Tmem132c	T	A	5: 127,564,496		probably benign	Het
Tnn	A	T	1: 160,147,768	S30T	possibly damaging	Het
Trpd52l3	G	T	19: 30,004,495	V217F	probably damaging	Het
Trpm1	G	T	7: 64,243,500	L1033F	probably damaging	Het
Tulp2	A	G	7: 45,517,924	E182G	probably damaging	Het
Ubr4	A	G	4: 139,471,336	K4490R	possibly damaging	Het
Usp17la	A	T	7: 104,860,649	R154*	probably null	Het
Vmn2r17	T	G	5: 109,427,983	M240R	probably damaging	Het
Vmn2r22	T	A	6: 123,650,469	N56I	probably benign	Het
Wdr66	A	G	5: 123,322,613	K1213E	probably benign	Het
Zdhhc21	A	T	4: 82,820,334	I206N	possibly damaging	Het
Zfp148	T	A	16: 33,456,908	D122E	probably benign	Het
Zfp804a	A	T	2: 82,256,582	S252C	probably damaging	Het

Other mutations in Zgrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Zgrf1	APN	3	127588141	splice site	probably benign
IGL01153:Zgrf1	APN	3	127602406	missense	probably damaging	1.00
IGL01330:Zgrf1	APN	3	127584007	missense	probably damaging	1.00
IGL01501:Zgrf1	APN	3	127602562	splice site	probably null
IGL01827:Zgrf1	APN	3	127616281	missense	probably benign	0.06
IGL02600:Zgrf1	APN	3	127600974	splice site	probably benign
IGL03122:Zgrf1	APN	3	127588133	missense	possibly damaging	0.91
IGL03365:Zgrf1	APN	3	127598774	missense	possibly damaging	0.48
R0015:Zgrf1	UTSW	3	127555397	splice site	probably benign
R0243:Zgrf1	UTSW	3	127615446	missense	probably damaging	0.99
R0468:Zgrf1	UTSW	3	127562041	missense	possibly damaging	0.72
R0497:Zgrf1	UTSW	3	127584650	splice site	probably benign
R0505:Zgrf1	UTSW	3	127573238	missense	probably benign	0.30
R0511:Zgrf1	UTSW	3	127584660	missense	possibly damaging	0.93
R0539:Zgrf1	UTSW	3	127615192	missense	probably damaging	1.00
R0617:Zgrf1	UTSW	3	127588038	missense	probably benign	0.39
R1298:Zgrf1	UTSW	3	127583889	missense	possibly damaging	0.95
R1353:Zgrf1	UTSW	3	127611803	missense	probably damaging	1.00
R1593:Zgrf1	UTSW	3	127561026	missense	possibly damaging	0.86
R1846:Zgrf1	UTSW	3	127615463	missense	probably damaging	1.00
R1912:Zgrf1	UTSW	3	127563137	missense	probably benign
R2062:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2064:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2065:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2066:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2067:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2256:Zgrf1	UTSW	3	127561997	missense	probably benign	0.18
R2321:Zgrf1	UTSW	3	127562407	nonsense	probably null
R2381:Zgrf1	UTSW	3	127556214	missense	probably benign	0.02
R2913:Zgrf1	UTSW	3	127598707	missense	possibly damaging	0.65
R3147:Zgrf1	UTSW	3	127584148	missense	possibly damaging	0.84
R3236:Zgrf1	UTSW	3	127613375	missense	probably damaging	1.00
R3237:Zgrf1	UTSW	3	127613375	missense	probably damaging	1.00
R4433:Zgrf1	UTSW	3	127562078	missense	probably benign
R4441:Zgrf1	UTSW	3	127586137	missense	possibly damaging	0.45
R4457:Zgrf1	UTSW	3	127595929	missense	probably damaging	1.00
R4498:Zgrf1	UTSW	3	127586100	nonsense	probably null
R4598:Zgrf1	UTSW	3	127601030	missense	probably benign	0.14
R4898:Zgrf1	UTSW	3	127602436	missense	probably damaging	1.00
R4944:Zgrf1	UTSW	3	127561868	nonsense	probably null
R5256:Zgrf1	UTSW	3	127602445	missense	probably damaging	1.00
R5294:Zgrf1	UTSW	3	127600980	missense	probably benign	0.14
R5358:Zgrf1	UTSW	3	127567703	critical splice donor site	probably null
R5359:Zgrf1	UTSW	3	127601165	missense	possibly damaging	0.95
R5447:Zgrf1	UTSW	3	127563119	missense	possibly damaging	0.73
R5569:Zgrf1	UTSW	3	127561025	missense	probably benign	0.33
R5887:Zgrf1	UTSW	3	127584765	missense	probably damaging	1.00
R5914:Zgrf1	UTSW	3	127561023	missense	probably damaging	0.99
R5925:Zgrf1	UTSW	3	127573204	missense	possibly damaging	0.84
R5936:Zgrf1	UTSW	3	127562253	missense	possibly damaging	0.72
R6087:Zgrf1	UTSW	3	127615486	missense	probably damaging	1.00
R6089:Zgrf1	UTSW	3	127595993	missense	probably damaging	1.00
R6181:Zgrf1	UTSW	3	127587941	missense	probably damaging	1.00
R6277:Zgrf1	UTSW	3	127598812	missense	possibly damaging	0.81
R6441:Zgrf1	UTSW	3	127588034	missense	possibly damaging	0.93
R6659:Zgrf1	UTSW	3	127616506	missense	probably damaging	0.99
R6857:Zgrf1	UTSW	3	127581447	missense	probably damaging	0.99
R6932:Zgrf1	UTSW	3	127559632	critical splice donor site	probably null
R7008:Zgrf1	UTSW	3	127561772	missense	probably benign	0.18
R7175:Zgrf1	UTSW	3	127563590	missense	probably damaging	1.00
R7264:Zgrf1	UTSW	3	127563569	missense	probably benign	0.00
R7272:Zgrf1	UTSW	3	127598760	missense	probably damaging	0.99
R7298:Zgrf1	UTSW	3	127583650	nonsense	probably null
R7412:Zgrf1	UTSW	3	127563071	missense	probably benign	0.06
R7836:Zgrf1	UTSW	3	127563431	missense	probably damaging	0.96
R7945:Zgrf1	UTSW	3	127562760	missense	probably benign	0.37
R7996:Zgrf1	UTSW	3	127595924	missense	possibly damaging	0.94
R8165:Zgrf1	UTSW	3	127563383	missense	possibly damaging	0.76
R8198:Zgrf1	UTSW	3	127596024	critical splice donor site	probably null
R8296:Zgrf1	UTSW	3	127583995	missense	probably damaging	0.99
R8298:Zgrf1	UTSW	3	127615229	missense	probably damaging	1.00
R8341:Zgrf1	UTSW	3	127560915	nonsense	probably null
R8445:Zgrf1	UTSW	3	127586205	critical splice donor site	probably null
RF015:Zgrf1	UTSW	3	127563233	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCAGTTCATGAGCACCCA -3'
(R):5'- CTGATATTGTACTTTCCGTTACCACT -3'

Sequencing Primer
(F):5'- CACAAAATGAATGAGCACAGAGC -3'
(R):5'- AATGTCTCTACCAATGGCCCATGG -3'

Posted On

2015-10-21