Mutagenetix > Incidental Mutation

Incidental Mutation 'R0372:Zfp974'

30540

Institutional Source

Beutler Lab

Gene Symbol

Zfp974

Ensembl Gene

ENSMUSG00000070709

Gene Name

zinc finger protein 974

Synonyms

1700049G17Rik

MMRRC Submission

038578-MU

Accession Numbers

Essential gene?

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

Stock #

R0372 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

27606817-27628885 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 27620120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115940 (fasta)

Gene Model

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

AlphaFold

Q3UVF6

Predicted Effect

probably null
Transcript: ENSMUST00000098639

SMART Domains

Protein: ENSMUSP00000096238
Gene: ENSMUSG00000070709

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 null
Transcript: ENSMUST00000098639

SMART Domains

Protein: ENSMUSP00000096238
Gene: ENSMUSG00000070709

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 null
Transcript: ENSMUST00000129341

SMART Domains

Protein: ENSMUSP00000115940
Gene: ENSMUSG00000070709

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

Predicted Effect

probably null
Transcript: ENSMUST00000129341

SMART Domains

Protein: ENSMUSP00000115940
Gene: ENSMUSG00000070709

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145674

Meta Mutation Damage Score

0.9378

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	A	14: 64,210,931 (GRCm39)	Q99L	probably damaging	Het
Abca2	A	G	2: 25,327,365 (GRCm39)	Y641C	probably damaging	Het
Abhd10	A	G	16: 45,557,254 (GRCm39)		probably null	Het
Acan	G	T	7: 78,750,349 (GRCm39)	A1707S	probably benign	Het
Ankrd61	T	A	5: 143,827,993 (GRCm39)	R284S	probably benign	Het
Ap3d1	T	C	10: 80,559,401 (GRCm39)	K258E	probably damaging	Het
Arl6ip6	T	G	2: 53,092,933 (GRCm39)	F153V	probably damaging	Het
Atp2c2	C	A	8: 120,484,180 (GRCm39)	F930L	probably benign	Het
Avl9	T	C	6: 56,703,309 (GRCm39)		probably null	Het
Axin2	A	G	11: 108,814,159 (GRCm39)	S16G	probably damaging	Het
Axin2	T	A	11: 108,814,936 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,656,981 (GRCm39)	D282E	probably benign	Het
Ccny	A	T	18: 9,345,201 (GRCm39)	V191D	probably damaging	Het
Cdk11b	A	G	4: 155,725,957 (GRCm39)		probably benign	Het
Chd1	T	A	17: 17,607,552 (GRCm39)	C367S	probably benign	Het
Cnnm4	G	A	1: 36,537,091 (GRCm39)	V472M	probably damaging	Het
Cpb2	T	A	14: 75,479,817 (GRCm39)	I8N	probably benign	Het
Dusp11	A	G	6: 85,935,712 (GRCm39)		probably benign	Het
Elmo1	T	C	13: 20,756,629 (GRCm39)		probably null	Het
Gbf1	C	T	19: 46,274,143 (GRCm39)	P1726S	probably benign	Het
Hal	A	G	10: 93,343,415 (GRCm39)		probably benign	Het
Hlcs	T	C	16: 93,939,766 (GRCm39)	I671V	possibly damaging	Het
Ifnab	A	G	4: 88,609,071 (GRCm39)	S132P	probably benign	Het
Ing5	T	C	1: 93,740,142 (GRCm39)	I70T	probably damaging	Het
Ints1	T	C	5: 139,758,193 (GRCm39)	N228S	probably damaging	Het
Itgb6	T	A	2: 60,458,185 (GRCm39)	I523F	probably benign	Het
Kat2b	T	C	17: 53,945,565 (GRCm39)	F328S	possibly damaging	Het
Kbtbd3	A	T	9: 4,316,950 (GRCm39)	I34F	possibly damaging	Het
Klhl11	A	T	11: 100,354,348 (GRCm39)	I491N	probably damaging	Het
Lmo7	A	T	14: 102,155,489 (GRCm39)		probably benign	Het
Lrp1	G	T	10: 127,428,005 (GRCm39)	P523T	probably damaging	Het
Lrp1b	T	A	2: 40,620,810 (GRCm39)	D3556V	probably benign	Het
Lrp2	T	A	2: 69,365,387 (GRCm39)	H262L	probably benign	Het
Lrrc27	T	A	7: 138,806,103 (GRCm39)	I256K	probably benign	Het
Lrrc47	G	A	4: 154,104,089 (GRCm39)	R523K	probably benign	Het
Lrrc71	A	T	3: 87,653,084 (GRCm39)	S111T	probably benign	Het
Map3k7cl	T	C	16: 87,378,100 (GRCm39)	V72A	probably damaging	Het
Mphosph10	G	T	7: 64,038,603 (GRCm39)		probably benign	Het
Nlrp4a	T	C	7: 26,148,657 (GRCm39)		probably benign	Het
Nsd2	A	T	5: 34,048,895 (GRCm39)	M1140L	probably damaging	Het
Nt5dc3	T	C	10: 86,661,155 (GRCm39)	M440T	possibly damaging	Het
Oog4	A	T	4: 143,164,259 (GRCm39)	L424Q	probably damaging	Het
Or5h17	T	C	16: 58,820,450 (GRCm39)	V134A	probably benign	Het
Orc5	A	T	5: 22,738,782 (GRCm39)	Y160N	possibly damaging	Het
Papola	T	C	12: 105,785,097 (GRCm39)	F410L	probably benign	Het
Pcdh10	A	G	3: 45,333,932 (GRCm39)	E82G	probably damaging	Het
Pcdh20	T	C	14: 88,706,439 (GRCm39)	Y287C	probably damaging	Het
Pld1	T	A	3: 28,142,787 (GRCm39)		probably null	Het
Plekha8	G	A	6: 54,593,743 (GRCm39)		probably null	Het
Ppbp	C	T	5: 90,917,202 (GRCm39)	T93M	possibly damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rab3gap2	C	T	1: 184,994,891 (GRCm39)	T810M	possibly damaging	Het
Rassf9	A	G	10: 102,381,872 (GRCm39)	N418S	possibly damaging	Het
Rnf20	C	G	4: 49,650,176 (GRCm39)	R582G	possibly damaging	Het
Serpine2	T	C	1: 79,799,147 (GRCm39)	I36V	probably damaging	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Slc24a2	A	T	4: 87,145,529 (GRCm39)	V175E	probably damaging	Het
Sned1	T	C	1: 93,213,673 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spg11	GCC	G	2: 121,889,928 (GRCm39)		probably null	Het
Tecrl	C	T	5: 83,442,506 (GRCm39)	C189Y	probably damaging	Het
Tert	A	G	13: 73,797,110 (GRCm39)	D1116G	probably damaging	Het
Thnsl2	T	C	6: 71,116,774 (GRCm39)	Y126C	probably damaging	Het
Tll2	T	C	19: 41,171,752 (GRCm39)		probably null	Het
Ubqln4	C	T	3: 88,463,276 (GRCm39)	S147L	probably benign	Het
Ugt2b5	A	T	5: 87,288,117 (GRCm39)	C17S	probably benign	Het
Vps41	A	T	13: 19,026,417 (GRCm39)	Q505L	probably benign	Het
Zfp386	T	C	12: 116,018,436 (GRCm39)	M35T	possibly damaging	Het
Zfp777	T	C	6: 48,021,410 (GRCm39)	M71V	possibly damaging	Het
Zfp938	A	T	10: 82,063,662 (GRCm39)	L34Q	probably 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
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
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'- GCTGTCACTTCTGCTGAAACCGTC -3'
(R):5'- AGGTCCACTGTGCCAAGCTTTG -3'

Sequencing Primer
(F):5'- CTTGGCTTtggttcagtggtc -3'
(R):5'- ggagacagacacaggcag -3'

Posted On

2013-04-24