Mutagenetix > Incidental Mutation

Incidental Mutation 'R6236:Zfp712'

504958

Institutional Source

Beutler Lab

Gene Symbol

Zfp712

Ensembl Gene

ENSMUSG00000090641

Gene Name

zinc finger protein 712

Synonyms

4921504N20Rik, mszf31, mszf89

MMRRC Submission

044400-MU

Accession Numbers

Essential gene?

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

Stock #

R6236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67186660-67209234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67188685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 614 (C614Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126665 (fasta)

Gene Model

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

AlphaFold

E9PXJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000167565
AA Change: C614Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126665
Gene: ENSMUSG00000090641
AA Change: C614Y

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

Meta Mutation Damage Score

0.4470

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,989,664 (GRCm39)	T703A	possibly damaging	Het
Acd	C	T	8: 106,427,127 (GRCm39)	A49T	probably benign	Het
Acer1	T	A	17: 57,262,231 (GRCm39)	I224F	probably benign	Het
Acvr1	T	C	2: 58,367,678 (GRCm39)	D161G	probably benign	Het
Catsper4	T	C	4: 133,948,887 (GRCm39)	I111V	probably benign	Het
Cfap210	A	C	2: 69,588,385 (GRCm39)		probably null	Het
Chst14	T	A	2: 118,757,997 (GRCm39)	C264S	probably damaging	Het
Clnk	T	C	5: 38,870,542 (GRCm39)	T339A	probably benign	Het
Cnot4	T	C	6: 35,045,608 (GRCm39)	K201R	probably benign	Het
Col19a1	A	G	1: 24,319,030 (GRCm39)	V1020A	probably damaging	Het
Cts6	C	A	13: 61,344,192 (GRCm39)	E287*	probably null	Het
Dbf4	T	C	5: 8,448,579 (GRCm39)		probably benign	Het
Diaph3	G	A	14: 87,275,004 (GRCm39)	R140*	probably null	Het
Faah	T	C	4: 115,856,786 (GRCm39)	I459V	probably benign	Het
Fbxw2	A	T	2: 34,712,845 (GRCm39)	L72H	probably damaging	Het
Fstl4	G	A	11: 53,077,162 (GRCm39)	G640S	probably benign	Het
Gabrb1	C	T	5: 72,265,663 (GRCm39)	T186M	probably damaging	Het
Gata2	T	C	6: 88,179,548 (GRCm39)		probably null	Het
Ifi203	A	G	1: 173,761,479 (GRCm39)	V190A	probably benign	Het
Kdm3a	T	C	6: 71,588,641 (GRCm39)	E456G	probably benign	Het
Kl	A	T	5: 150,876,755 (GRCm39)	T192S	probably damaging	Het
Klhl3	G	A	13: 58,232,876 (GRCm39)	A77V	probably damaging	Het
Klri2	A	G	6: 129,715,858 (GRCm39)	F114L	probably benign	Het
Lonp2	A	T	8: 87,363,215 (GRCm39)	R278*	probably null	Het
Lrp5	A	T	19: 3,680,483 (GRCm39)		probably null	Het
Med13	T	A	11: 86,219,357 (GRCm39)	H363L	probably damaging	Het
Metap1d	T	G	2: 71,346,022 (GRCm39)	F194L	probably benign	Het
Misp	A	G	10: 79,662,956 (GRCm39)	K458E	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myh2	A	G	11: 67,081,157 (GRCm39)	T1258A	probably benign	Het
Nipbl	T	A	15: 8,354,064 (GRCm39)	D1691V	possibly damaging	Het
Nr1i2	C	T	16: 38,086,300 (GRCm39)	C55Y	probably damaging	Het
Or11h7	T	C	14: 50,891,257 (GRCm39)	S188P	probably damaging	Het
Or7g21	A	T	9: 19,032,409 (GRCm39)	I50F	possibly damaging	Het
Pcdhgb4	T	C	18: 37,854,345 (GRCm39)	Y247H	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Ric1	T	A	19: 29,572,826 (GRCm39)	D755E	possibly damaging	Het
Sez6l	G	T	5: 112,623,110 (GRCm39)	T147K	possibly damaging	Het
Ski	A	G	4: 155,244,001 (GRCm39)	F451S	probably benign	Het
Slc45a2	C	T	15: 11,022,158 (GRCm39)	T300I	probably benign	Het
Smarca2	T	C	19: 26,673,613 (GRCm39)	V1050A	probably benign	Het
Spag1	T	C	15: 36,211,281 (GRCm39)	S476P	probably damaging	Het
Sptbn2	T	A	19: 4,798,166 (GRCm39)	S1964T	probably benign	Het
Sucla2	T	A	14: 73,831,190 (GRCm39)	D434E	probably benign	Het
Tbl3	G	A	17: 24,919,717 (GRCm39)	T779I	probably benign	Het
Tlr2	T	A	3: 83,745,438 (GRCm39)	E215V	probably benign	Het
Tomm40	G	A	7: 19,437,281 (GRCm39)	P227S	probably benign	Het
Tpp2	T	A	1: 44,016,477 (GRCm39)	S711T	probably benign	Het
Traj32	T	A	14: 54,423,565 (GRCm39)	Y2*	probably null	Het
Trim34b	A	G	7: 103,985,525 (GRCm39)	R387G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Usp5	T	C	6: 124,795,441 (GRCm39)	T651A	probably benign	Het
Vmn1r188	T	C	13: 22,272,414 (GRCm39)	S123P	probably damaging	Het
Zdhhc14	T	C	17: 5,543,918 (GRCm39)	L66P	probably damaging	Het
Zfp827	A	G	8: 79,797,105 (GRCm39)	K397R	probably damaging	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
R5361:Zfp712	UTSW	13	67,189,079 (GRCm39)	missense	possibly damaging	0.95
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
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'- AGCACTGAACTATTACTAAAGGCC -3'
(R):5'- CTGGAGAGAAACCCTACACATG -3'

Sequencing Primer
(F):5'- ACTACACTCTTTGCATGCATAGGG -3'
(R):5'- TGCAAAGAATGTGGGAAAGCCTTTG -3'

Posted On

2018-02-28