Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Zfp712'

233947

Institutional Source

Beutler Lab

Gene Symbol

Zfp712

Ensembl Gene

ENSMUSG00000090641

Gene Name

zinc finger protein 712

Synonyms

4921504N20Rik, mszf31, mszf89

MMRRC Submission

040150-MU

Accession Numbers

Essential gene?

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

Stock #

R2147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67186660-67209234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67189960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 189 (E189G)

Ref Sequence

ENSEMBL: ENSMUSP00000126665 (fasta)

Gene Model

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

AlphaFold

E9PXJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167565
AA Change: E189G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126665
Gene: ENSMUSG00000090641
AA Change: E189G

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,903,003 (GRCm39)	M91K	probably benign	Het
Abr	T	C	11: 76,346,474 (GRCm39)	R437G	probably damaging	Het
Acaca	T	G	11: 84,167,362 (GRCm39)	D1045E	probably benign	Het
Adam23	A	T	1: 63,573,521 (GRCm39)		probably null	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Alg11	G	A	8: 22,555,309 (GRCm39)	G108D	probably damaging	Het
Alox12e	A	T	11: 70,210,771 (GRCm39)	I316N	probably damaging	Het
Arid1a	A	T	4: 133,408,677 (GRCm39)	F1943L	unknown	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC035044	T	C	6: 128,867,867 (GRCm39)		probably benign	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccnf	A	T	17: 24,449,288 (GRCm39)		probably null	Het
Cdadc1	A	G	14: 59,835,202 (GRCm39)		probably null	Het
Cep57l1	A	G	10: 41,616,895 (GRCm39)	Y131H	probably damaging	Het
Cfap251	T	C	5: 123,394,254 (GRCm39)	V381A	probably benign	Het
Cfap44	A	G	16: 44,272,047 (GRCm39)	R1267G	probably benign	Het
Chd3	A	T	11: 69,239,854 (GRCm39)	L1658Q	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chpf2	T	A	5: 24,797,033 (GRCm39)	F660I	probably damaging	Het
Cmas	T	A	6: 142,717,015 (GRCm39)	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562 (GRCm39)	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dennd3	T	G	15: 73,395,336 (GRCm39)	L143R	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,855,024 (GRCm39)		probably null	Het
Fbxl15	A	T	19: 46,317,627 (GRCm39)	D103V	probably damaging	Het
Gm4781	C	A	10: 100,232,414 (GRCm39)		noncoding transcript	Het
Hpca	A	G	4: 129,012,278 (GRCm39)	I86T	possibly damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lipe	G	T	7: 25,087,946 (GRCm39)	A38E	probably benign	Het
Lrrk1	A	T	7: 65,935,159 (GRCm39)		probably null	Het
Lrsam1	T	C	2: 32,835,891 (GRCm39)	K292R	probably damaging	Het
Mbtps1	A	T	8: 120,265,598 (GRCm39)	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063 (GRCm39)	Y525*	probably null	Het
Mrps14	T	C	1: 160,022,862 (GRCm39)	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo15a	A	G	11: 60,401,055 (GRCm39)	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,966,543 (GRCm39)	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,451,243 (GRCm39)	F42I	probably benign	Het
Or5k8	T	A	16: 58,644,842 (GRCm39)	I77F	probably damaging	Het
Pank1	T	C	19: 34,804,754 (GRCm39)	H134R	probably benign	Het
Pcdh7	T	A	5: 58,286,458 (GRCm39)	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,717,633 (GRCm39)	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pitpnc1	C	T	11: 107,103,344 (GRCm39)	A252T	probably damaging	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Prpf8	A	G	11: 75,381,357 (GRCm39)	I231V	probably benign	Het
Scin	T	A	12: 40,130,984 (GRCm39)	M310L	probably benign	Het
Serpina3m	T	A	12: 104,355,483 (GRCm39)	I50N	probably benign	Het
Skint8	C	G	4: 111,794,274 (GRCm39)	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,366,990 (GRCm39)	V673M	probably benign	Het
Slc24a5	A	G	2: 124,929,361 (GRCm39)	D368G	probably damaging	Het
Slc28a1	A	T	7: 80,776,015 (GRCm39)	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,705,583 (GRCm39)	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,262,717 (GRCm39)	Y320H	probably damaging	Het
Syne3	T	A	12: 104,919,357 (GRCm39)	D512V	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,601,701 (GRCm39)	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,223,861 (GRCm39)	I217V	probably benign	Het
Tmem45b	A	G	9: 31,340,277 (GRCm39)	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,412,456 (GRCm39)	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,840,116 (GRCm39)	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,132,139 (GRCm39)	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,694,811 (GRCm39)	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,114,583 (GRCm39)	I82M	probably benign	Het
Vmn2r129	T	C	4: 156,687,014 (GRCm39)		noncoding transcript	Het
Vps41	G	T	13: 19,023,904 (GRCm39)		probably null	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,209,616 (GRCm39)	H731R	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
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
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'- GCCACATTCTTCACATTTGTAGG -3'
(R):5'- AGACCTTTCCTTGGAACTCAC -3'

Sequencing Primer
(F):5'- CACATTTGTAGGGTTTTTCTCCAG -3'
(R):5'- CGTCCTGGAGCAAAACTTTACAAGTG -3'

Posted On

2014-10-01