Mutagenetix > Incidental Mutations

Incidental Mutation 'RF015:Zgrf1'

603457

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

RF015 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127553489-127618023 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127563233 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 703 (I703V)

Ref Sequence

ENSEMBL: ENSMUSP00000142886 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043108

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278

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: I703V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: I703V

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

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278

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

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: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAGTATTATTATTAT	3: 37,050,748		probably benign	Het
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,856		probably benign	Het
5430401F13Rik	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,859		probably benign	Het
5430401F13Rik	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,861		probably benign	Het
Abcb4	GAA	G	5: 8,896,594		probably null	Het
Agap1	T	A	1: 89,634,263	Y214*	probably null	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 123,286,862		probably benign	Het
Arid1a	AGGC	A	4: 133,752,831		probably benign	Het
Bco2	A	G	9: 50,545,997	F82L	probably damaging	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGGGGCTGTGGCTG	19: 47,141,256		probably benign	Het
Capn9	T	C	8: 124,618,482	F683L	probably benign	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 120,072,968		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,724,715		probably benign	Het
Chga	AGC	AGCGGC	12: 102,561,420		probably benign	Het
Cyb5r4	GACACA	GACACAGTGCCCAAGGATGTGACATACACA	9: 87,040,432		probably benign	Het
Cyb5r4	CTGCCCAGGGA	CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA	9: 87,040,438		probably benign	Het
Dnah10	G	A	5: 124,818,077	D3557N	probably damaging	Het
Dnmt1	GGAGCACAGTTCCTACCTCGTT	GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT	9: 20,910,124		probably null	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT	9: 20,910,129		probably null	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,874,756		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,475,917		probably benign	Het
Fam49a	T	A	12: 12,369,938	S294R	probably benign	Het
Fam71e1	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,500,522		probably null	Het
Gatad1	A	T	5: 3,647,523	C33S	possibly damaging	Het
Gm7534	T	C	4: 134,193,027	H609R	probably benign	Het
H2-DMb1	A	G	17: 34,155,502	Y42C	probably damaging	Het
Hars2	G	T	18: 36,785,945	R86L	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCGGCCAC	3: 93,018,148		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGCGCACATTG	6: 145,173,783		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,621,456		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,820		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,841		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,739,247		probably null	Het
Mucl2	T	A	15: 103,897,430	N87I	probably benign	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Nup214	T	C	2: 32,034,706	V1749A	probably benign	Het
Olfr678	A	G	7: 105,070,048	I194V	probably damaging	Het
Pcdhgb4	A	T	18: 37,721,802	N417Y	probably damaging	Het
Pclo	G	T	5: 14,515,269	L16F	unknown	Het
Pik3c2g	T	A	6: 139,754,771	N262K		Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,368,542		probably benign	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,858,489		probably benign	Het
Rnf41	C	T	10: 128,435,410	A63V	probably benign	Het
Sirt1	C	T	10: 63,337,016	A163T	probably damaging	Het
Six3	GCG	GCGTCG	17: 85,621,370		probably benign	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Skor2	A	G	18: 76,860,788	E735G	probably damaging	Het
Slc26a8	TCTCTGGCTCTGGCTCTGGCTCTGGCTC	TCTCTGGCTCTGGCTCTGGCTC	17: 28,638,341		probably benign	Het
Smco2	T	TTCG	6: 146,852,663		probably benign	Het
Strada	A	G	11: 106,171,020	I172T	probably damaging	Het
Syne1	T	C	10: 5,302,248	I2469V	probably benign	Het
Tcof1	C	CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA	18: 60,833,584		probably benign	Het
Tram1	T	C	1: 13,579,742	Y86C	probably damaging	Het
Ttll7	T	A	3: 146,979,658	F882L	probably benign	Het
Usp2	TGTGACCTGTTCTTCACTTAC	TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC	9: 44,089,109		probably benign	Het
Utp18	A	G	11: 93,885,461	L66P	probably damaging	Het
Wdr66	GGAGGAGGAGGAG	GGAGGAGGAGGAGGAG	5: 123,254,242		probably benign	Het
Wdr66	TCTCA	T	5: 123,274,161		probably benign	Het
Wnt7a	C	T	6: 91,394,423	E186K	possibly damaging	Het
Zfp384	AGGCCCAGGCCC	AGGCCCAGGCCCCGGCCCAGGCCC	6: 125,036,481		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGACACAGGGAGCAGTTTGG -3'
(R):5'- ATGCTTCGCTGTCTCTATAAATAGG -3'

Sequencing Primer
(F):5'- AGCAGTTTGGACTCGTCGC -3'
(R):5'- CGCTGTCTCTATAAATAGGATGTTTG -3'

Posted On

2019-12-04