Mutagenetix > Incidental Mutation

Incidental Mutation 'R5361:Zfp712'

422823

Institutional Source

Beutler Lab

Gene Symbol

Zfp712

Ensembl Gene

ENSMUSG00000090641

Gene Name

zinc finger protein 712

Synonyms

4921504N20Rik, mszf31, mszf89

MMRRC Submission

042940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67186660-67209234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67189079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 483 (S483P)

Ref Sequence

ENSEMBL: ENSMUSP00000126665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167565]

AlphaFold

E9PXJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167565
AA Change: S483P

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126665
Gene: ENSMUSG00000090641
AA Change: S483P

Domain	Start	End	E-Value	Type
KRAB	5	65	7.38e-36	SMART
ZnF_C2H2	109	131	1.28e-3	SMART
ZnF_C2H2	137	159	4.17e-3	SMART
ZnF_C2H2	165	186	1.73e0	SMART
ZnF_C2H2	192	214	3.39e-3	SMART
ZnF_C2H2	220	242	1.58e-3	SMART
ZnF_C2H2	248	270	8.34e-3	SMART
ZnF_C2H2	276	298	4.17e-3	SMART
ZnF_C2H2	304	326	4.87e-4	SMART
ZnF_C2H2	332	354	1.04e-3	SMART
ZnF_C2H2	360	382	5.5e-3	SMART
ZnF_C2H2	388	410	1.89e-1	SMART
ZnF_C2H2	416	438	7.15e-2	SMART
ZnF_C2H2	444	466	3.58e-2	SMART
ZnF_C2H2	472	494	5.99e-4	SMART
ZnF_C2H2	500	522	2.12e-4	SMART
ZnF_C2H2	528	550	3.83e-2	SMART
ZnF_C2H2	556	578	2.95e-3	SMART
ZnF_C2H2	584	606	6.32e-3	SMART
ZnF_C2H2	612	634	3.89e-3	SMART
ZnF_C2H2	640	662	3.49e-5	SMART
ZnF_C2H2	668	690	1.84e-4	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	A	9: 57,164,468 (GRCm39)	K635N	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ahnak	T	A	19: 8,992,705 (GRCm39)	M4663K	possibly damaging	Het
C4b	T	A	17: 34,960,212 (GRCm39)	T280S	probably benign	Het
Ccdc166	A	G	15: 75,852,869 (GRCm39)	V366A	probably benign	Het
Cdh23	A	G	10: 60,493,044 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,792,292 (GRCm39)	T1281A	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Dbndd1	T	A	8: 124,233,484 (GRCm39)	D127V	probably damaging	Het
Ddx20	T	A	3: 105,590,825 (GRCm39)	E197V	probably damaging	Het
Dennd10	A	G	19: 60,814,324 (GRCm39)	M96V	probably benign	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dnmt3a	T	C	12: 3,945,643 (GRCm39)	V24A	probably benign	Het
Dop1b	C	A	16: 93,567,392 (GRCm39)	A1273E	probably damaging	Het
Dsg1c	T	C	18: 20,416,703 (GRCm39)	V868A	possibly damaging	Het
Dtx4	A	G	19: 12,462,626 (GRCm39)		probably null	Het
Elovl4	A	G	9: 83,672,154 (GRCm39)	L55P	possibly damaging	Het
Fbxo40	T	A	16: 36,789,914 (GRCm39)	T399S	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm14399	T	C	2: 174,973,371 (GRCm39)	E96G	probably damaging	Het
Gm14496	T	G	2: 181,642,147 (GRCm39)	V606G	probably benign	Het
Gpr156	A	G	16: 37,826,087 (GRCm39)	E768G	probably damaging	Het
Grm5	A	T	7: 87,723,704 (GRCm39)	T665S	probably damaging	Het
Hsdl2	A	G	4: 59,592,301 (GRCm39)		probably benign	Het
Htt	T	C	5: 35,064,928 (GRCm39)	V3047A	possibly damaging	Het
Igkv3-2	A	T	6: 70,676,011 (GRCm39)	T107S	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itih2	T	A	2: 10,101,272 (GRCm39)	T899S	probably benign	Het
Lhcgr	T	A	17: 89,050,281 (GRCm39)	Y415F	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med4	C	A	14: 73,747,553 (GRCm39)	S18*	probably null	Het
Nefl	T	C	14: 68,322,088 (GRCm39)	V226A	probably damaging	Het
Nploc4	T	A	11: 120,275,389 (GRCm39)	N516Y	probably damaging	Het
Or1o4	A	G	17: 37,590,501 (GRCm39)	V270A	probably benign	Het
Or6c66	A	T	10: 129,461,601 (GRCm39)	F110I	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdha3	T	G	18: 37,079,752 (GRCm39)	L165V	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,099 (GRCm39)	V415D	probably damaging	Het
Pcdhga10	T	C	18: 37,880,503 (GRCm39)	I88T	probably damaging	Het
Pigyl	T	A	9: 22,069,292 (GRCm39)	M1K	probably null	Het
Prr27	T	C	5: 87,991,203 (GRCm39)	S272P	probably damaging	Het
Prss3	C	T	6: 41,350,780 (GRCm39)	D237N	probably benign	Het
Pstpip2	A	G	18: 77,958,078 (GRCm39)	D150G	probably damaging	Het
Robo4	T	A	9: 37,324,674 (GRCm39)	D909E	probably benign	Het
Serpinb3c	A	T	1: 107,204,661 (GRCm39)	Y28*	probably null	Het
Slc26a3	T	C	12: 31,500,980 (GRCm39)		probably null	Het
Slc6a1	A	T	6: 114,279,493 (GRCm39)	I91F	probably benign	Het
Smcr8	T	G	11: 60,669,118 (GRCm39)	Y89D	probably damaging	Het
Sspo	T	A	6: 48,443,247 (GRCm39)	M1898K	probably benign	Het
Tbl1xr1	T	A	3: 22,246,233 (GRCm39)	I251K	probably damaging	Het
Thbs4	C	T	13: 92,913,501 (GRCm39)	D140N	probably benign	Het
Tmbim6	G	A	15: 99,303,633 (GRCm39)	A108T	probably benign	Het
Trim10	T	G	17: 37,186,328 (GRCm39)	L301R	probably benign	Het
Trpm7	A	T	2: 126,671,161 (GRCm39)	I607N	possibly damaging	Het
Vmn2r9	T	A	5: 108,995,929 (GRCm39)	I240F	probably damaging	Het
Xpot	T	A	10: 121,436,765 (GRCm39)	I873F	possibly damaging	Het
Zfhx4	G	A	3: 5,464,267 (GRCm39)	S1475N	probably damaging	Het
Zswim7	A	T	11: 62,158,373 (GRCm39)	H122Q	probably benign	Het

Other mutations in Zfp712

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Zfp712	APN	13	67,190,230 (GRCm39)	missense	possibly damaging	0.55
IGL02148:Zfp712	APN	13	67,190,222 (GRCm39)	missense	probably damaging	1.00
R0085:Zfp712	UTSW	13	67,189,256 (GRCm39)	missense	probably benign	0.00
R0332:Zfp712	UTSW	13	67,188,877 (GRCm39)	missense	probably damaging	1.00
R1676:Zfp712	UTSW	13	67,200,400 (GRCm39)	missense	probably benign	0.00
R1838:Zfp712	UTSW	13	67,190,111 (GRCm39)	missense	probably damaging	1.00
R1997:Zfp712	UTSW	13	67,190,114 (GRCm39)	nonsense	probably null
R2147:Zfp712	UTSW	13	67,189,960 (GRCm39)	missense	possibly damaging	0.94
R2203:Zfp712	UTSW	13	67,190,048 (GRCm39)	missense	probably benign	0.32
R3421:Zfp712	UTSW	13	67,200,456 (GRCm39)	missense	probably damaging	0.98
R3943:Zfp712	UTSW	13	67,189,396 (GRCm39)	missense	probably benign	0.06
R4722:Zfp712	UTSW	13	67,190,177 (GRCm39)	missense	probably benign	0.41
R4952:Zfp712	UTSW	13	67,188,905 (GRCm39)	missense	possibly damaging	0.63
R4964:Zfp712	UTSW	13	67,188,676 (GRCm39)	missense	probably damaging	1.00
R4966:Zfp712	UTSW	13	67,188,676 (GRCm39)	missense	probably damaging	1.00
R4967:Zfp712	UTSW	13	67,188,773 (GRCm39)	nonsense	probably null
R5114:Zfp712	UTSW	13	67,189,425 (GRCm39)	missense	probably damaging	1.00
R5922:Zfp712	UTSW	13	67,189,668 (GRCm39)	missense	probably benign	0.01
R5950:Zfp712	UTSW	13	67,192,881 (GRCm39)	missense	probably damaging	0.99
R6004:Zfp712	UTSW	13	67,189,769 (GRCm39)	missense	probably damaging	1.00
R6236:Zfp712	UTSW	13	67,188,685 (GRCm39)	missense	probably damaging	1.00
R6298:Zfp712	UTSW	13	67,189,393 (GRCm39)	missense	probably damaging	1.00
R6499:Zfp712	UTSW	13	67,200,400 (GRCm39)	missense	probably benign	0.00
R6774:Zfp712	UTSW	13	67,189,568 (GRCm39)	missense	probably benign	0.01
R6932:Zfp712	UTSW	13	67,188,891 (GRCm39)	nonsense	probably null
R7410:Zfp712	UTSW	13	67,189,400 (GRCm39)	missense	probably benign	0.00
R7831:Zfp712	UTSW	13	67,200,483 (GRCm39)	splice site	probably null
R7923:Zfp712	UTSW	13	67,190,249 (GRCm39)	missense	probably benign	0.01
R8144:Zfp712	UTSW	13	67,189,172 (GRCm39)	missense	probably benign
R8298:Zfp712	UTSW	13	67,188,976 (GRCm39)	missense	probably benign	0.06
R9115:Zfp712	UTSW	13	67,189,241 (GRCm39)	missense	probably damaging	0.96
R9138:Zfp712	UTSW	13	67,189,318 (GRCm39)	missense	probably damaging	1.00
R9187:Zfp712	UTSW	13	67,188,637 (GRCm39)	missense	probably damaging	1.00
R9256:Zfp712	UTSW	13	67,188,791 (GRCm39)	missense	probably benign	0.28
R9651:Zfp712	UTSW	13	67,188,824 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAATGCCTGGCCACACTC -3'
(R):5'- GGCAAAGCCTTTAACTGTTCAT -3'

Sequencing Primer
(F):5'- AGGGTTTCTCTCCAGTATGAAGTCTC -3'
(R):5'- AGAGTGTGGCCAGACGTTCATC -3'

Posted On

2016-08-04