Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Zfp974'

460780

Institutional Source

Beutler Lab

Gene Symbol

Zfp974

Ensembl Gene

ENSMUSG00000070709

Gene Name

zinc finger protein 974

Synonyms

1700049G17Rik

MMRRC Submission

044105-MU

Accession Numbers

Essential gene?

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

Stock #

R5908 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27606817-27628885 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27610382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 448 (M448L)

Ref Sequence

ENSEMBL: ENSMUSP00000096238 (fasta)

Gene Model

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

AlphaFold

Q3UVF6

Predicted Effect

probably benign
Transcript: ENSMUST00000098639
AA Change: M448L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000096238
Gene: ENSMUSG00000070709
AA Change: M448L

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: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,624,730 (GRCm39)	L198H	probably damaging	Het
Anks1	C	T	17: 28,214,993 (GRCm39)	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,503,165 (GRCm39)	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,132,297 (GRCm39)		noncoding transcript	Het
B9d2	T	A	7: 25,382,724 (GRCm39)	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,159,572 (GRCm39)	T117A	probably benign	Het
Btbd8	T	G	5: 107,655,460 (GRCm39)	D574E	probably damaging	Het
Cabin1	A	G	10: 75,557,366 (GRCm39)	S1091P	probably damaging	Het
Clip3	C	A	7: 29,996,298 (GRCm39)	D64E	probably damaging	Het
Col6a5	C	G	9: 105,740,000 (GRCm39)	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,785,136 (GRCm39)	M178L	probably benign	Het
Crtc3	T	A	7: 80,245,542 (GRCm39)	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,049,065 (GRCm39)	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,926,817 (GRCm39)	V189D	probably damaging	Het
Etl4	C	T	2: 20,748,718 (GRCm39)	A483V	probably damaging	Het
Foxo3	T	C	10: 42,072,583 (GRCm39)	I645V	probably benign	Het
Gm4841	A	G	18: 60,403,506 (GRCm39)	S196P	possibly damaging	Het
Hip1	A	G	5: 135,453,717 (GRCm39)		probably null	Het
Il36rn	G	T	2: 24,167,502 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,106,371 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,124,523 (GRCm39)	D259G	probably benign	Het
Lyst	T	A	13: 13,871,346 (GRCm39)	Y2694*	probably null	Het
Map4k2	T	C	19: 6,401,346 (GRCm39)		probably benign	Het
Marchf10	C	T	11: 105,281,065 (GRCm39)	V407I	probably benign	Het
Mast4	C	A	13: 102,874,764 (GRCm39)	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,293,366 (GRCm39)	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,039,392 (GRCm39)	F801S	probably damaging	Het
Nhsl3	A	G	4: 129,115,941 (GRCm39)	S908P	probably damaging	Het
Notch2	T	C	3: 98,031,239 (GRCm39)		probably benign	Het
Nr2e1	T	C	10: 42,448,765 (GRCm39)	S158G	probably benign	Het
Nup214	A	G	2: 31,881,353 (GRCm39)	I404V	probably benign	Het
Or13n4	T	C	7: 106,423,404 (GRCm39)	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pik3r3	A	T	4: 116,129,955 (GRCm39)	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,374,501 (GRCm39)	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,846,621 (GRCm39)	Q44*	probably null	Het
Pnma8b	C	T	7: 16,680,968 (GRCm39)	R651C	unknown	Het
Pnpt1	T	A	11: 29,080,887 (GRCm39)	S44T	probably benign	Het
Polb	A	T	8: 23,132,319 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,165,984 (GRCm39)	N85S	probably damaging	Het
Prim1	A	G	10: 127,853,893 (GRCm39)	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,758,040 (GRCm39)	Y223F	probably benign	Het
Rbak	T	G	5: 143,159,391 (GRCm39)	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,117,970 (GRCm39)	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,073,605 (GRCm39)	S818A	probably damaging	Het
Sh3rf3	C	G	10: 58,885,270 (GRCm39)	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,293,090 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,103,678 (GRCm39)	E1181G	probably benign	Het
Taf2	G	A	15: 54,935,402 (GRCm39)		probably benign	Het
Taf7l2	A	T	10: 115,949,133 (GRCm39)	I131N	probably benign	Het
Tbc1d9	A	T	8: 83,976,174 (GRCm39)	M578L	probably benign	Het
Tinagl1	G	T	4: 130,066,763 (GRCm39)	Y111*	probably null	Het
Tor2a	T	C	2: 32,651,697 (GRCm39)	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,067,304 (GRCm39)	V474A	probably benign	Het
Trrap	C	A	5: 144,723,518 (GRCm39)	A325E	probably damaging	Het
Ube4a	A	G	9: 44,859,322 (GRCm39)		probably null	Het
Use1	G	C	8: 71,822,257 (GRCm39)	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,973,563 (GRCm39)	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,156,449 (GRCm39)	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,739,374 (GRCm39)	K964E	probably benign	Het
Zfyve28	A	T	5: 34,374,214 (GRCm39)	V600E	possibly damaging	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
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'- TGGGAAGATGGAAAGCCTTTC -3'
(R):5'- GAAGGCCTTCATTGTTCTGGC -3'

Sequencing Primer
(F):5'- CACTACTGTGAGACTTCTGATGACG -3'
(R):5'- GGCATCAGACCATTCATACTGGAG -3'

Posted On

2017-02-28