Mutagenetix > Incidental Mutations

Incidental Mutation 'R5447:Zgrf1'

429119

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

MMRRC Submission

043012-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127553489-127618023 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127563119 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 665 (S665P)

Ref Sequence

ENSEMBL: ENSMUSP00000143585 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043108
AA Change: S665P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: S665P

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: S665P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: S665P

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: S665P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: S665P

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: ENSMUST00000199888
AA Change: S665P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278
AA Change: S665P

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: S665P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278
AA Change: S665P

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	C	A	5: 90,584,310	A458E	probably damaging	Het
Abcb5	T	C	12: 118,927,326	I479V	probably damaging	Het
Adam30	A	G	3: 98,161,343	D164G	probably benign	Het
Adgrl3	T	A	5: 81,465,341		probably benign	Het
Adrb1	T	C	19: 56,723,087	I239T	probably benign	Het
B4galnt3	T	C	6: 120,215,057	T572A	probably benign	Het
Baz2b	T	C	2: 59,913,988	E1391G	probably damaging	Het
BC016579	A	G	16: 45,648,889	V72A	probably benign	Het
Btnl10	A	T	11: 58,922,318	I258F	probably benign	Het
Cdh5	A	T	8: 104,129,362	D309V	probably damaging	Het
Cdhr2	A	G	13: 54,733,250	D1042G	probably damaging	Het
Clk2	G	T	3: 89,167,191	V53F	possibly damaging	Het
Cyfip2	T	C	11: 46,291,586	D15G	possibly damaging	Het
Dip2b	C	T	15: 100,211,986	R1451C	probably damaging	Het
Dmbt1	A	G	7: 131,119,511	Y1836C	probably damaging	Het
Dysf	T	C	6: 84,195,263	F1905L	probably damaging	Het
E130114P18Rik	A	G	4: 97,690,718	S7P	unknown	Het
Fam110a	T	C	2: 151,970,709	E47G	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
H2-Ke6	A	T	17: 34,026,912	V202D	probably damaging	Het
Helb	T	A	10: 120,102,901	D556V	possibly damaging	Het
Hoxd4	A	G	2: 74,727,343	E22G	probably damaging	Het
Il1rl2	T	G	1: 40,329,156	I162R	probably damaging	Het
Lhfpl5	A	G	17: 28,576,097	T33A	probably damaging	Het
Mapk8ip3	G	A	17: 24,899,189	A1283V	probably benign	Het
Mettl13	A	G	1: 162,535,880	V227A	probably benign	Het
Mmgt2	T	A	11: 62,664,998	C57*	probably null	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Mylk2	T	C	2: 152,912,510	S175P	probably damaging	Het
Neu4	C	T	1: 94,022,418	T33M	probably damaging	Het
Nfs1	C	T	2: 156,142,136	R107H	probably benign	Het
Nfxl1	C	T	5: 72,529,169	R563Q	probably benign	Het
Nid1	A	G	13: 13,437,910	D70G	probably benign	Het
Nup160	C	A	2: 90,725,615	Q1220K	possibly damaging	Het
Olfr175-ps1	A	T	16: 58,824,483	C75*	probably null	Het
Olfr381	A	G	11: 73,486,176	V216A	probably benign	Het
Olfr51	G	A	11: 51,007,343	V124M	possibly damaging	Het
Olfr605	A	C	7: 103,442,940	M61R	probably damaging	Het
Pdgfrb	T	A	18: 61,068,108	V422E	probably damaging	Het
Pear1	G	A	3: 87,759,142	R85C	probably damaging	Het
Pkhd1	T	A	1: 20,239,385	M2780L	probably benign	Het
Ppp4r4	T	C	12: 103,584,151	V62A	possibly damaging	Het
Prol1	C	T	5: 88,328,266	P172S	unknown	Het
Proz	A	G	8: 13,072,578	I231V	probably benign	Het
Ptch1	T	G	13: 63,527,245	M718L	probably benign	Het
Ptprs	A	G	17: 56,429,128	C102R	possibly damaging	Het
Robo2	A	T	16: 73,973,766	Y490*	probably null	Het
Rptor	G	A	11: 119,843,713	G514D	probably damaging	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Skint6	T	A	4: 113,105,909	S442C	probably benign	Het
Snw1	T	C	12: 87,455,715	E303G	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Stk10	C	T	11: 32,604,166	Q618*	probably null	Het
Tmc3	A	T	7: 83,622,361	E907V	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttn	T	A	2: 76,899,107		probably benign	Het
Vps39	T	C	2: 120,352,932	D19G	probably benign	Het
Zan	T	C	5: 137,472,191	S229G	probably damaging	Het
Zfp141	A	T	7: 42,475,559	C496*	probably null	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
R4701:Zgrf1	UTSW	3	127598704	missense	probably benign	0.03
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
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'- GGTTTCAATTCAGGACCTCATGG -3'
(R):5'- TCAAAGTGATCCTGAGTGGTACTC -3'

Sequencing Primer
(F):5'- TCAATTCAGGACCTCATGGAGATG -3'
(R):5'- TGGCCACTAATGTCACTGCTAGAG -3'

Posted On

2016-09-06