Mutagenetix > Incidental Mutation

Incidental Mutation 'R0543:Zfp719'

50056

Institutional Source

Beutler Lab

Gene Symbol

Zfp719

Ensembl Gene

ENSMUSG00000030469

Gene Name

zinc finger protein 719

Synonyms

C630016O21Rik, mszf6, 9430094P17Rik

MMRRC Submission

038735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0543 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

43229034-43242659 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 43238677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058104] [ENSMUST00000205769]

AlphaFold

Q8BIV1

Predicted Effect

probably null
Transcript: ENSMUST00000058104

SMART Domains

Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469

Domain	Start	End	E-Value	Type
KRAB	49	109	1.18e-20	SMART
ZnF_C2H2	285	305	4.16e1	SMART
ZnF_C2H2	341	363	1.2e-3	SMART
ZnF_C2H2	369	391	9.08e-4	SMART
ZnF_C2H2	397	419	6.67e-2	SMART
ZnF_C2H2	425	447	7.9e-4	SMART
ZnF_C2H2	453	475	3.34e-2	SMART
ZnF_C2H2	481	503	1.38e-3	SMART
ZnF_C2H2	509	531	5.42e-2	SMART
ZnF_C2H2	537	559	3.78e-1	SMART
ZnF_C2H2	565	587	2.43e-4	SMART
ZnF_C2H2	593	615	4.54e-4	SMART
ZnF_C2H2	621	643	4.24e-4	SMART
ZnF_C2H2	649	671	6.42e-4	SMART
ZnF_C2H2	677	699	1.47e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147075

Predicted Effect

probably null
Transcript: ENSMUST00000205769

Meta Mutation Damage Score

0.1528

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	A	6: 116,431,278 (GRCm39)		probably null	Het
Apol9b	A	G	15: 77,619,840 (GRCm39)	N212S	probably damaging	Het
Ash1l	T	A	3: 88,971,085 (GRCm39)		probably null	Het
Bltp1	G	A	3: 37,050,607 (GRCm39)	S2981N	probably benign	Het
Ccdc180	A	T	4: 45,900,041 (GRCm39)	K200*	probably null	Het
Ccser2	A	T	14: 36,662,149 (GRCm39)	M345K	probably benign	Het
Cdcp2	A	T	4: 106,954,873 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,454,155 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,246,051 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,075,326 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,244,325 (GRCm39)	F1035S	probably damaging	Het
Dsg1a	A	T	18: 20,473,920 (GRCm39)	S998C	probably damaging	Het
Ecrg4	C	A	1: 43,781,449 (GRCm39)	N110K	possibly damaging	Het
Enox1	T	C	14: 77,744,399 (GRCm39)		probably benign	Het
Fgfr3	A	G	5: 33,887,054 (GRCm39)	M1V	probably null	Het
Fuca2	T	A	10: 13,378,870 (GRCm39)	Y5N	probably damaging	Het
Git2	G	T	5: 114,883,592 (GRCm39)	H42Q	probably damaging	Het
Gm7964	G	A	7: 83,405,602 (GRCm39)		noncoding transcript	Het
Hars2	G	A	18: 36,922,477 (GRCm39)	E337K	probably damaging	Het
Hells	A	G	19: 38,956,194 (GRCm39)	R797G	probably benign	Het
Hnf1a	G	A	5: 115,088,803 (GRCm39)	S571L	probably benign	Het
Hoxa5	T	C	6: 52,181,320 (GRCm39)	Y4C	probably damaging	Het
Inpp4a	G	A	1: 37,408,573 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,934,060 (GRCm39)	I816V	probably damaging	Het
Itpr1	T	C	6: 108,492,709 (GRCm39)		probably benign	Het
Itprid2	T	A	2: 79,474,850 (GRCm39)	S270T	possibly damaging	Het
Kcnt2	C	A	1: 140,537,352 (GRCm39)	P1037T	probably damaging	Het
Lyg2	T	A	1: 37,950,188 (GRCm39)	M47L	possibly damaging	Het
Macf1	G	T	4: 123,270,171 (GRCm39)	A4648D	probably damaging	Het
Mcf2l	T	C	8: 13,046,728 (GRCm39)		probably null	Het
Mcm9	C	T	10: 53,417,694 (GRCm39)	R3H	probably damaging	Het
Met	T	A	6: 17,491,969 (GRCm39)	Y244N	probably damaging	Het
Mettl14	A	T	3: 123,168,411 (GRCm39)	C210S	possibly damaging	Het
Mrgpra4	T	C	7: 47,631,058 (GRCm39)	Y181C	probably benign	Het
Mtch2	T	C	2: 90,680,026 (GRCm39)	V86A	possibly damaging	Het
Mttp	A	T	3: 137,817,457 (GRCm39)	I446N	possibly damaging	Het
Muc4	T	A	16: 32,577,120 (GRCm39)	S2207T	unknown	Het
Muc5b	A	G	7: 141,405,522 (GRCm39)	T944A	unknown	Het
Myo15a	A	T	11: 60,369,877 (GRCm39)	H879L	probably benign	Het
Nherf4	A	C	9: 44,160,231 (GRCm39)	H324Q	probably damaging	Het
Nkiras2	G	A	11: 100,515,018 (GRCm39)		probably benign	Het
Nostrin	T	G	2: 69,019,475 (GRCm39)	*507E	probably null	Het
Nup205	T	C	6: 35,175,904 (GRCm39)	V589A	probably benign	Het
Or12j3	A	G	7: 139,953,307 (GRCm39)	I72T	probably benign	Het
Or5b21	G	T	19: 12,839,252 (GRCm39)	V38F	probably benign	Het
Or5w17	C	A	2: 87,583,994 (GRCm39)	L114F	probably damaging	Het
Oxct2b	T	A	4: 123,010,782 (GRCm39)	M234K	possibly damaging	Het
Pcdha1	A	T	18: 37,318,121 (GRCm39)	I945F	probably damaging	Het
Pik3ca	G	A	3: 32,504,410 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,386,887 (GRCm39)		probably null	Het
Plscr1	A	T	9: 92,140,099 (GRCm39)		probably null	Het
Prkn	G	A	17: 11,286,066 (GRCm39)	D20N	probably damaging	Het
Psd	T	C	19: 46,307,956 (GRCm39)	E684G	possibly damaging	Het
Rab11fip3	T	C	17: 26,213,199 (GRCm39)	E870G	probably damaging	Het
Rpl22l1	C	A	3: 28,861,423 (GRCm39)	Y103*	probably null	Het
Semp2l2b	T	C	10: 21,942,823 (GRCm39)	S386G	possibly damaging	Het
Slc38a4	A	T	15: 96,914,720 (GRCm39)	N44K	possibly damaging	Het
Slco6c1	T	A	1: 97,055,623 (GRCm39)	I93F	probably damaging	Het
Strip1	G	A	3: 107,534,091 (GRCm39)	T181M	possibly damaging	Het
Stxbp5l	G	A	16: 37,028,458 (GRCm39)	A535V	probably damaging	Het
Tg	A	T	15: 66,601,446 (GRCm39)	Q152L	probably benign	Het
Thada	T	C	17: 84,730,591 (GRCm39)	T1036A	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tns1	T	A	1: 73,991,856 (GRCm39)	T941S	probably benign	Het
Tppp3	T	C	8: 106,194,840 (GRCm39)	D97G	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpm7	T	C	2: 126,690,449 (GRCm39)	I210V	probably damaging	Het
Ubr1	A	G	2: 120,711,574 (GRCm39)	L1440P	probably damaging	Het
Utp18	A	T	11: 93,766,661 (GRCm39)	Y317N	probably damaging	Het
Zdhhc5	T	A	2: 84,522,824 (GRCm39)		probably benign	Het

Other mutations in Zfp719

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Zfp719	APN	7	43,240,554 (GRCm39)	missense	probably damaging	1.00
IGL01407:Zfp719	APN	7	43,233,611 (GRCm39)	missense	probably benign	0.00
IGL01763:Zfp719	APN	7	43,233,613 (GRCm39)	missense	probably benign	0.00
IGL03079:Zfp719	APN	7	43,240,590 (GRCm39)	missense	probably damaging	1.00
R0522:Zfp719	UTSW	7	43,238,677 (GRCm39)	critical splice acceptor site	probably null
R0524:Zfp719	UTSW	7	43,238,677 (GRCm39)	critical splice acceptor site	probably null
R0542:Zfp719	UTSW	7	43,238,677 (GRCm39)	critical splice acceptor site	probably null
R0662:Zfp719	UTSW	7	43,233,678 (GRCm39)	missense	possibly damaging	0.56
R1390:Zfp719	UTSW	7	43,239,867 (GRCm39)	missense	possibly damaging	0.69
R2959:Zfp719	UTSW	7	43,239,851 (GRCm39)	missense	possibly damaging	0.89
R4708:Zfp719	UTSW	7	43,239,656 (GRCm39)	missense	probably damaging	1.00
R4709:Zfp719	UTSW	7	43,239,656 (GRCm39)	missense	probably damaging	1.00
R4710:Zfp719	UTSW	7	43,239,656 (GRCm39)	missense	probably damaging	1.00
R4716:Zfp719	UTSW	7	43,240,535 (GRCm39)	missense	possibly damaging	0.80
R4729:Zfp719	UTSW	7	43,239,834 (GRCm39)	missense	probably damaging	1.00
R4755:Zfp719	UTSW	7	43,240,217 (GRCm39)	missense	probably damaging	1.00
R5176:Zfp719	UTSW	7	43,240,549 (GRCm39)	missense	probably damaging	1.00
R5949:Zfp719	UTSW	7	43,233,541 (GRCm39)	intron	probably benign
R6063:Zfp719	UTSW	7	43,239,050 (GRCm39)	nonsense	probably null
R6363:Zfp719	UTSW	7	43,239,290 (GRCm39)	missense	probably benign	0.03
R6434:Zfp719	UTSW	7	43,240,412 (GRCm39)	missense	probably damaging	1.00
R6465:Zfp719	UTSW	7	43,240,108 (GRCm39)	nonsense	probably null
R6806:Zfp719	UTSW	7	43,235,809 (GRCm39)	missense	possibly damaging	0.63
R6925:Zfp719	UTSW	7	43,240,130 (GRCm39)	missense	probably damaging	1.00
R8124:Zfp719	UTSW	7	43,239,314 (GRCm39)	missense	probably benign
R9018:Zfp719	UTSW	7	43,233,489 (GRCm39)	intron	probably benign
R9043:Zfp719	UTSW	7	43,239,605 (GRCm39)	missense	possibly damaging	0.69
R9484:Zfp719	UTSW	7	43,239,581 (GRCm39)	missense	possibly damaging	0.70
R9556:Zfp719	UTSW	7	43,239,072 (GRCm39)	missense	probably damaging	0.99
R9647:Zfp719	UTSW	7	43,233,602 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGTCCAGTGTCCAGAAAGTTGCC -3'
(R):5'- TTTGGAAAGCACCAGGACTTACAGG -3'

Sequencing Primer
(F):5'- TTGCCTAGCACACATGAGTG -3'
(R):5'- CCAGGACTTACAGGCAGGAC -3'

Posted On

2013-06-12