Mutagenetix > Incidental Mutation

Incidental Mutation 'R7008:Zgrf1'

544815

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

MMRRC Submission

045110-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127553489-127618023 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127561772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 216 (F216L)

Ref Sequence

ENSEMBL: ENSMUSP00000143585 (fasta)

Gene Model

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

AlphaFold

Q0VGT4

Predicted Effect

probably benign
Transcript: ENSMUST00000043108
AA Change: F216L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: F216L

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: ENSMUST00000195955
AA Change: F216L

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: F216L

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

probably benign
Transcript: ENSMUST00000196141
AA Change: F216L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: F216L

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: ENSMUST00000199888
AA Change: F216L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278
AA Change: F216L

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
AA Change: F216L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278
AA Change: F216L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	A	5: 90,260,096	I1421F	possibly damaging	Het
Arhgef11	C	A	3: 87,729,218	T992K	possibly damaging	Het
Arid1b	T	C	17: 5,290,979	Y853H	probably damaging	Het
Bcl10	G	T	3: 145,933,299	R232L	probably benign	Het
Best2	T	A	8: 85,013,211	I76F	possibly damaging	Het
Card11	G	C	5: 140,873,393	R1133G	probably damaging	Het
Card9	T	C	2: 26,357,799	D180G	possibly damaging	Het
Ccdc162	T	A	10: 41,552,415	E119V	probably damaging	Het
Cd2bp2	T	C	7: 127,195,395	D15G	possibly damaging	Het
Cdk7	A	C	13: 100,717,621	M120R	probably damaging	Het
Cryba4	T	A	5: 112,251,782	T2S	probably benign	Het
Cyp19a1	A	T	9: 54,193,325	M26K	probably benign	Het
Dgcr2	A	G	16: 17,845,001	S157P	probably damaging	Het
Dis3l	A	G	9: 64,310,453	F782S	possibly damaging	Het
Ephb4	T	A	5: 137,361,274	S369T	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Gm8251	T	C	1: 44,059,625	D771G	probably benign	Het
Hist1h1e	T	C	13: 23,622,209	K97E	probably damaging	Het
Igf2bp2	A	T	16: 22,081,832	D118E	probably benign	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771		probably null	Het
Klhl5	T	C	5: 65,143,249	S52P	probably benign	Het
Lrrc28	A	T	7: 67,595,711		probably benign	Het
Map4k4	T	G	1: 39,988,971	D317E	probably benign	Het
Maz	A	T	7: 127,024,612	C66S	probably damaging	Het
Mbd4	T	C	6: 115,850,724	T43A	possibly damaging	Het
Milr1	T	A	11: 106,751,314	S11T	probably damaging	Het
Mthfd2l	T	A	5: 90,959,728	C150S	probably damaging	Het
Nemf	A	T	12: 69,341,621	N325K	possibly damaging	Het
Nemf	C	T	12: 69,353,793		probably null	Het
Nod2	T	A	8: 88,663,657	C197*	probably null	Het
Odf2l	A	G	3: 145,132,734	K241E	probably damaging	Het
Olfr1427	G	A	19: 12,098,850	T263I	possibly damaging	Het
Olfr1489	A	T	19: 13,633,621	N170I	probably damaging	Het
Osbpl10	T	G	9: 115,061,848	D101E	probably damaging	Het
Osgin1	T	C	8: 119,441,494	V20A	possibly damaging	Het
Pan3	T	A	5: 147,545,693	C438S	probably damaging	Het
Plaa	A	G	4: 94,569,349	*795Q	probably null	Het
Prss35	T	C	9: 86,756,308	V377A	probably benign	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rasl12	G	A	9: 65,410,869	V172M	probably damaging	Het
Rdh16f1	A	G	10: 127,790,906	H276R	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Sez6l	T	C	5: 112,464,695	Y460C	probably damaging	Het
Sipa1l1	T	G	12: 82,363,112	M600R	probably damaging	Het
Slc11a2	T	C	15: 100,409,324	Y92C	probably damaging	Het
Slc4a10	A	G	2: 62,286,922	T712A	probably benign	Het
Sntb1	A	T	15: 55,792,072	Y249*	probably null	Het
Spatc1	A	G	15: 76,283,723	I127M	probably benign	Het
Synj1	A	T	16: 90,993,945	N109K	probably damaging	Het
Tdg	T	A	10: 82,648,641	M396K	possibly damaging	Het
Tmem173	C	A	18: 35,735,171	R292L	probably damaging	Het
Tmem252	T	C	19: 24,674,292	V75A	probably damaging	Het
Trim40	T	C	17: 36,883,976	Q142R	probably damaging	Het
Trip6	T	C	5: 137,312,966	T163A	probably damaging	Het
Ttn	T	C	2: 76,894,642		probably benign	Het
Wdr95	T	C	5: 149,611,540	L721P	probably benign	Het
Zfp385c	A	T	11: 100,630,687	D182E	probably damaging	Het
Zfp597	A	G	16: 3,865,767	F375S	probably benign	Het
Zfp658	T	G	7: 43,573,912	F537C	possibly 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_014	UTSW	3	127555397	splice site	probably benign
R1298_Zgrf1_204	UTSW	3	127583889	missense	possibly damaging	0.95
R7175_zgrf1_533	UTSW	3	127563590	missense	probably damaging	1.00
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
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
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
R9088:Zgrf1	UTSW	3	127583677	missense	probably benign	0.21
R9236:Zgrf1	UTSW	3	127584663	missense	probably benign	0.09
R9250:Zgrf1	UTSW	3	127586148	missense	probably damaging	1.00
R9253:Zgrf1	UTSW	3	127598779	missense	probably damaging	1.00
R9464:Zgrf1	UTSW	3	127584092	missense	probably benign	0.03
R9647:Zgrf1	UTSW	3	127561602	missense	probably benign	0.02
R9680:Zgrf1	UTSW	3	127615567	missense	probably benign	0.38
RF015:Zgrf1	UTSW	3	127563233	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCACTTGGTGATGAGAACCC -3'
(R):5'- CACCATGCAGATCCTTCCTG -3'

Sequencing Primer
(F):5'- TTGGTGATGAGAACCCTGGCC -3'
(R):5'- CATGCAGATCCTTCCTGTTAGTTGAG -3'

Posted On

2019-05-13