Mutagenetix > Incidental Mutation

Incidental Mutation 'R9212:Zfp974'

698940

Institutional Source

Beutler Lab

Gene Symbol

Zfp974

Ensembl Gene

ENSMUSG00000070709

Gene Name

zinc finger protein 974

Synonyms

1700049G17Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27606817-27628885 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27610052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 558 (S558P)

Ref Sequence

ENSEMBL: ENSMUSP00000096238 (fasta)

Gene Model

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

AlphaFold

Q3UVF6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098639
AA Change: S558P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096238
Gene: ENSMUSG00000070709
AA Change: S558P

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Actn3	T	C	19: 4,914,565 (GRCm39)	D521G	probably benign	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Asb18	T	C	1: 89,880,447 (GRCm39)	T453A	probably benign	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cdh24	T	A	14: 54,878,679 (GRCm39)		probably benign	Het
Cfap57	T	A	4: 118,436,649 (GRCm39)	I916F	possibly damaging	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cit	A	T	5: 116,013,952 (GRCm39)	I222F	possibly damaging	Het
Clip1	T	A	5: 123,721,399 (GRCm39)	K1165N	probably damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Dnah14	G	A	1: 181,628,852 (GRCm39)	V4123M	possibly damaging	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fzd6	A	G	15: 38,898,289 (GRCm39)	H543R	probably damaging	Het
Gad2	T	A	2: 22,571,399 (GRCm39)	C446S	probably damaging	Het
Gm29106	A	G	1: 118,127,270 (GRCm39)	R321G	probably damaging	Het
Gon4l	T	C	3: 88,803,730 (GRCm39)	V1447A	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Kifap3	C	T	1: 163,610,600 (GRCm39)	L27F	probably damaging	Het
Lancl2	A	C	6: 57,714,673 (GRCm39)	I431L	probably benign	Het
Ltbp2	G	A	12: 84,839,824 (GRCm39)	P1069S	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Nppc	G	T	1: 86,597,619 (GRCm39)	Q50K	possibly damaging	Het
Or2a51	T	A	6: 43,178,756 (GRCm39)	Y59*	probably null	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Papolg	T	C	11: 23,823,817 (GRCm39)	T334A	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rnf17	T	C	14: 56,761,785 (GRCm39)	V1616A	probably damaging	Het
Rph3a	T	A	5: 121,086,005 (GRCm39)	H477L	possibly damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Sbsn	A	G	7: 30,452,427 (GRCm39)	N481D	probably benign	Het
Sf3a3	G	A	4: 124,621,921 (GRCm39)	E354K	possibly damaging	Het
Slc15a2	A	C	16: 36,602,053 (GRCm39)	Y81*	probably null	Het
Slc5a2	C	A	7: 127,867,939 (GRCm39)	Q202K	probably damaging	Het
Spata31h1	T	C	10: 82,118,979 (GRCm39)	N4677S	possibly damaging	Het
Stxbp2	G	C	8: 3,686,220 (GRCm39)	K313N		Het
Tbc1d2b	A	T	9: 90,087,183 (GRCm39)	L932Q	possibly damaging	Het
Trim24	A	T	6: 37,896,335 (GRCm39)	Q264L	probably benign	Het
Tubgcp3	A	G	8: 12,691,200 (GRCm39)	V446A	possibly damaging	Het
Unc93b1	G	A	19: 3,993,557 (GRCm39)	R333Q	probably damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Wdr62	G	A	7: 29,942,563 (GRCm39)	S1015L	probably damaging	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	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
R1567:Zfp974	UTSW	7	27,610,148 (GRCm39)	missense	probably damaging	0.99
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
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'- ACCAGAATGAATGGCCATATGTTG -3'
(R):5'- AAGGCCTTCATTGTTCTGGC -3'

Sequencing Primer
(F):5'- CCATATGTTGAATGAGAGTGGATTC -3'
(R):5'- CTCTGTGGATCAGCCTTCAGAAG -3'

Posted On

2022-02-07