Mutagenetix > Incidental Mutation

Incidental Mutation 'R1567:Zfp974'

175343

Institutional Source

Beutler Lab

Gene Symbol

Zfp974

Ensembl Gene

ENSMUSG00000070709

Gene Name

zinc finger protein 974

Synonyms

1700049G17Rik

MMRRC Submission

039606-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27606817-27628885 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27610148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 526 (D526Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098639] [ENSMUST00000129341]

AlphaFold

Q3UVF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000098639
AA Change: D526Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096238
Gene: ENSMUSG00000070709
AA Change: D526Y

Domain	Start	End	E-Value	Type
ZnF_C2H2	99	121	8.81e-2	SMART
ZnF_C2H2	127	149	1.82e-3	SMART
ZnF_C2H2	155	177	3.11e-2	SMART
ZnF_C2H2	201	223	2.15e-5	SMART
ZnF_C2H2	229	251	1.18e-2	SMART
ZnF_C2H2	257	279	1.47e-3	SMART
ZnF_C2H2	285	307	1.79e-2	SMART
ZnF_C2H2	313	335	2.24e-3	SMART
ZnF_C2H2	341	363	9.73e-4	SMART
ZnF_C2H2	369	391	7.26e-3	SMART
ZnF_C2H2	397	419	6.42e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.28e-3	SMART
ZnF_C2H2	481	503	1.26e-2	SMART
ZnF_C2H2	509	531	1.38e-3	SMART
ZnF_C2H2	537	559	3.83e-2	SMART
ZnF_C2H2	565	587	1.95e-3	SMART
ZnF_C2H2	593	615	4.61e-5	SMART
ZnF_C2H2	621	643	1.95e-3	SMART
ZnF_C2H2	649	671	1.03e-2	SMART
ZnF_C2H2	677	699	5.5e-3	SMART
ZnF_C2H2	705	727	2.37e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129341

SMART Domains

Protein: ENSMUSP00000115940
Gene: ENSMUSG00000070709

Domain	Start	End	E-Value	Type
KRAB	14	75	7.5e-37	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,030,352 (GRCm39)	V155I	probably benign	Het
Actrt2	T	C	4: 154,751,371 (GRCm39)	Q255R	possibly damaging	Het
Adar	A	T	3: 89,643,088 (GRCm39)	H323L	probably benign	Het
Adgrg5	T	A	8: 95,664,326 (GRCm39)	V312E	probably damaging	Het
Anapc1	T	C	2: 128,459,636 (GRCm39)	T1808A	probably damaging	Het
Aox3	C	A	1: 58,233,852 (GRCm39)	A1285E	probably damaging	Het
Arhgap40	T	A	2: 158,388,719 (GRCm39)	L551Q	probably damaging	Het
Blk	A	G	14: 63,618,178 (GRCm39)	S243P	probably damaging	Het
Cfap206	G	T	4: 34,716,490 (GRCm39)	A325E	probably benign	Het
Cimap1b	C	A	15: 89,261,981 (GRCm39)	R137L	probably benign	Het
Cnn3	A	T	3: 121,243,607 (GRCm39)	K23*	probably null	Het
Cog8	G	A	8: 107,780,740 (GRCm39)	R173*	probably null	Het
Col11a1	G	A	3: 113,932,261 (GRCm39)	R880H	unknown	Het
Cyp2c40	T	C	19: 39,792,215 (GRCm39)	Q243R	probably null	Het
Dcbld1	A	G	10: 52,195,752 (GRCm39)	E391G	probably damaging	Het
Dchs1	C	A	7: 105,421,068 (GRCm39)	A451S	probably benign	Het
Ddx43	A	G	9: 78,323,991 (GRCm39)	K441E	probably damaging	Het
Depdc1a	A	T	3: 159,228,177 (GRCm39)	I310F	possibly damaging	Het
Dnah17	C	T	11: 118,016,811 (GRCm39)	V247M	probably damaging	Het
Dtd1	G	T	2: 144,588,945 (GRCm39)	G201V	probably damaging	Het
Eif1ad3	A	T	12: 87,843,754 (GRCm39)	I134F	unknown	Het
Enoph1	G	A	5: 100,208,884 (GRCm39)	G80S	probably benign	Het
Fam76a	A	T	4: 132,645,039 (GRCm39)	Y48*	probably null	Het
Fut9	T	G	4: 25,620,344 (GRCm39)	T157P	probably damaging	Het
Gm57859	T	A	11: 113,578,728 (GRCm39)	V41D	probably damaging	Het
Gtpbp1	T	C	15: 79,596,391 (GRCm39)	I310T	probably damaging	Het
Hk3	T	A	13: 55,154,418 (GRCm39)	I753F	probably damaging	Het
Hnrnpl	G	T	7: 28,519,608 (GRCm39)	A419S	possibly damaging	Het
Ighv5-6	T	C	12: 113,589,528 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Kcnn2	T	G	18: 45,803,401 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lmcd1	C	T	6: 112,287,526 (GRCm39)	R71C	probably damaging	Het
Mrgprb1	A	T	7: 48,097,201 (GRCm39)	V237E	probably damaging	Het
Mybl1	T	A	1: 9,755,976 (GRCm39)	E191V	probably damaging	Het
Nbas	T	A	12: 13,335,279 (GRCm39)	F158I	possibly damaging	Het
Nbr1	C	G	11: 101,466,037 (GRCm39)	L748V	probably damaging	Het
Nlrp10	G	A	7: 108,526,257 (GRCm39)	T27M	probably benign	Het
Notch3	G	A	17: 32,377,554 (GRCm39)	T174I	possibly damaging	Het
Nup85	T	A	11: 115,459,224 (GRCm39)	I109K	possibly damaging	Het
Or10h28	A	G	17: 33,488,450 (GRCm39)	I251V	probably benign	Het
Or2b28	A	T	13: 21,531,595 (GRCm39)	I166L	probably benign	Het
Or2n1e	A	G	17: 38,586,459 (GRCm39)	I266V	possibly damaging	Het
Or4c12b	T	C	2: 89,647,528 (GRCm39)	L280P	probably damaging	Het
Or4k48	G	T	2: 111,476,271 (GRCm39)	Q24K	possibly damaging	Het
Or5b105	T	C	19: 13,080,006 (GRCm39)	T221A	probably benign	Het
Phf2	T	C	13: 48,985,589 (GRCm39)	K64E	unknown	Het
Polr2a	T	C	11: 69,636,857 (GRCm39)	T365A	probably benign	Het
Prkcd	A	G	14: 30,329,405 (GRCm39)	C12R	probably benign	Het
Ptprq	T	C	10: 107,401,748 (GRCm39)	I1915V	probably benign	Het
Rcbtb2	G	A	14: 73,399,902 (GRCm39)	V112I	probably benign	Het
Rxfp3	A	G	15: 11,036,187 (GRCm39)	V395A	probably benign	Het
Ryr2	C	A	13: 11,774,563 (GRCm39)	G1198C	possibly damaging	Het
Scn1a	T	A	2: 66,103,675 (GRCm39)	I1851F	probably damaging	Het
Selenop	A	G	15: 3,309,180 (GRCm39)	*377W	probably null	Het
Sema4a	A	T	3: 88,359,353 (GRCm39)	C113S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Speg	T	C	1: 75,404,691 (GRCm39)	S2575P	probably benign	Het
Stk24	T	A	14: 121,545,468 (GRCm39)	I97L	probably benign	Het
Tap2	A	G	17: 34,433,065 (GRCm39)	K449R	probably benign	Het
Tecpr2	T	A	12: 110,908,030 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,727,955 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,246,505 (GRCm39)	F1204L	possibly damaging	Het
Ugt2b36	T	C	5: 87,240,258 (GRCm39)	I42M	probably damaging	Het
Zdhhc8	A	G	16: 18,044,984 (GRCm39)	L274P	probably benign	Het

Other mutations in Zfp974

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Zfp974	APN	7	27,610,315 (GRCm39)	missense	possibly damaging	0.83
IGL01805:Zfp974	APN	7	27,611,689 (GRCm39)	splice site	probably benign
IGL02313:Zfp974	APN	7	27,611,678 (GRCm39)	missense	possibly damaging	0.53
IGL02449:Zfp974	APN	7	27,611,152 (GRCm39)	missense	probably benign
R0362:Zfp974	UTSW	7	27,626,819 (GRCm39)	splice site	probably benign
R0372:Zfp974	UTSW	7	27,620,120 (GRCm39)	critical splice donor site	probably null
R0379:Zfp974	UTSW	7	27,610,357 (GRCm39)	missense	probably damaging	0.98
R0699:Zfp974	UTSW	7	27,611,416 (GRCm39)	missense	possibly damaging	0.56
R0791:Zfp974	UTSW	7	27,609,510 (GRCm39)	nonsense	probably null
R1411:Zfp974	UTSW	7	27,610,634 (GRCm39)	missense	probably benign	0.00
R1747:Zfp974	UTSW	7	27,610,506 (GRCm39)	missense	possibly damaging	0.61
R1837:Zfp974	UTSW	7	27,609,781 (GRCm39)	missense	possibly damaging	0.93
R1838:Zfp974	UTSW	7	27,609,781 (GRCm39)	missense	possibly damaging	0.93
R1839:Zfp974	UTSW	7	27,609,781 (GRCm39)	missense	possibly damaging	0.93
R2311:Zfp974	UTSW	7	27,609,866 (GRCm39)	missense	possibly damaging	0.73
R4006:Zfp974	UTSW	7	27,611,677 (GRCm39)	missense	possibly damaging	0.86
R4303:Zfp974	UTSW	7	27,609,657 (GRCm39)	missense	possibly damaging	0.85
R4541:Zfp974	UTSW	7	27,625,829 (GRCm39)	missense	probably damaging	0.99
R4771:Zfp974	UTSW	7	27,625,733 (GRCm39)	missense	probably damaging	0.96
R4889:Zfp974	UTSW	7	27,610,244 (GRCm39)	missense	possibly damaging	0.86
R5332:Zfp974	UTSW	7	27,625,715 (GRCm39)	missense	probably benign	0.01
R5537:Zfp974	UTSW	7	27,611,671 (GRCm39)	critical splice acceptor site	probably benign
R5906:Zfp974	UTSW	7	27,610,230 (GRCm39)	missense	possibly damaging	0.72
R5908:Zfp974	UTSW	7	27,610,382 (GRCm39)	missense	probably benign	0.01
R6419:Zfp974	UTSW	7	27,610,940 (GRCm39)	missense	possibly damaging	0.72
R6654:Zfp974	UTSW	7	27,625,828 (GRCm39)	missense	probably damaging	1.00
R6731:Zfp974	UTSW	7	27,611,074 (GRCm39)	missense	possibly damaging	0.93
R7162:Zfp974	UTSW	7	27,610,944 (GRCm39)	missense	possibly damaging	0.71
R7316:Zfp974	UTSW	7	27,609,863 (GRCm39)	missense	possibly damaging	0.93
R7484:Zfp974	UTSW	7	27,611,559 (GRCm39)	missense	possibly damaging	0.72
R7663:Zfp974	UTSW	7	27,611,110 (GRCm39)	missense	possibly damaging	0.74
R7664:Zfp974	UTSW	7	27,610,137 (GRCm39)	missense	possibly damaging	0.86
R8052:Zfp974	UTSW	7	27,610,697 (GRCm39)	missense	probably damaging	1.00
R8698:Zfp974	UTSW	7	27,610,361 (GRCm39)	missense	possibly damaging	0.90
R8700:Zfp974	UTSW	7	27,609,472 (GRCm39)	missense	possibly damaging	0.86
R8938:Zfp974	UTSW	7	27,610,311 (GRCm39)	missense	possibly damaging	0.74
R8972:Zfp974	UTSW	7	27,610,589 (GRCm39)	missense	probably benign	0.06
R9212:Zfp974	UTSW	7	27,610,052 (GRCm39)	missense	possibly damaging	0.86
R9236:Zfp974	UTSW	7	27,610,342 (GRCm39)	missense	possibly damaging	0.51
R9335:Zfp974	UTSW	7	27,611,476 (GRCm39)	missense	probably benign	0.02
R9436:Zfp974	UTSW	7	27,611,094 (GRCm39)	missense	probably benign	0.24
R9740:Zfp974	UTSW	7	27,610,025 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACGCTTGAAGGACTTCCCACATAC -3'
(R):5'- TCTGGTGAGAGACCCTTTCAGTGC -3'

Sequencing Primer
(F):5'- ATACCTTGCACTCAAAGGGTCTG -3'
(R):5'- actgccacacaccttgttc -3'

Posted On

2014-04-24