Mutagenetix > Incidental Mutation

Incidental Mutation 'R7386:Zfp40'

573128

Institutional Source

Beutler Lab

Gene Symbol

Zfp40

Ensembl Gene

ENSMUSG00000002617

Gene Name

zinc finger protein 40

Synonyms

Zfp-40, NTfin12

MMRRC Submission

045468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7386 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23392843-23412226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23395981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 202 (E202G)

Ref Sequence

ENSEMBL: ENSMUSP00000039794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037057] [ENSMUST00000140313] [ENSMUST00000172177]

AlphaFold

B1B1D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000037057
AA Change: E202G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: E202G

Domain	Start	End	E-Value	Type
KRAB	43	103	2.96e-17	SMART
ZnF_C2H2	225	247	1.47e-3	SMART
ZnF_C2H2	281	302	5.77e0	SMART
ZnF_C2H2	308	330	4.34e0	SMART
ZnF_C2H2	336	358	1.82e-3	SMART
ZnF_C2H2	363	385	4.24e-4	SMART
ZnF_C2H2	391	413	2.75e-3	SMART
ZnF_C2H2	419	441	1.38e-3	SMART
ZnF_C2H2	447	469	9.58e-3	SMART
ZnF_C2H2	475	497	1.47e-3	SMART
ZnF_C2H2	503	525	8.47e-4	SMART
ZnF_C2H2	531	553	2.57e-3	SMART
ZnF_C2H2	559	581	8.47e-4	SMART
ZnF_C2H2	587	609	4.54e-4	SMART
ZnF_C2H2	615	636	1.26e1	SMART
ZnF_C2H2	642	664	5.59e-4	SMART
ZnF_C2H2	670	692	3.21e-4	SMART
ZnF_C2H2	698	720	2.24e-3	SMART
ZnF_C2H2	726	748	1.2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140313
AA Change: E134G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: E134G

Domain	Start	End	E-Value	Type
Blast:KRAB	1	35	4e-16	BLAST
ZnF_C2H2	157	179	1.47e-3	SMART
ZnF_C2H2	213	234	5.77e0	SMART
ZnF_C2H2	240	262	4.34e0	SMART
ZnF_C2H2	268	290	1.82e-3	SMART
ZnF_C2H2	295	317	4.24e-4	SMART
ZnF_C2H2	323	345	2.75e-3	SMART
ZnF_C2H2	351	373	1.38e-3	SMART
ZnF_C2H2	379	401	9.58e-3	SMART
ZnF_C2H2	407	429	1.47e-3	SMART
ZnF_C2H2	435	457	8.47e-4	SMART
ZnF_C2H2	463	485	2.57e-3	SMART
ZnF_C2H2	491	513	8.47e-4	SMART
ZnF_C2H2	519	541	4.54e-4	SMART
ZnF_C2H2	547	568	1.26e1	SMART
ZnF_C2H2	574	596	5.59e-4	SMART
ZnF_C2H2	602	624	3.21e-4	SMART
ZnF_C2H2	630	652	2.24e-3	SMART
ZnF_C2H2	658	680	1.2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172177
AA Change: E202G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: E202G

Domain	Start	End	E-Value	Type
KRAB	43	103	2.96e-17	SMART
ZnF_C2H2	225	247	1.47e-3	SMART
ZnF_C2H2	281	302	5.77e0	SMART
ZnF_C2H2	308	330	4.34e0	SMART
ZnF_C2H2	336	358	1.82e-3	SMART
ZnF_C2H2	363	385	4.24e-4	SMART
ZnF_C2H2	391	413	2.75e-3	SMART
ZnF_C2H2	419	441	1.38e-3	SMART
ZnF_C2H2	447	469	9.58e-3	SMART
ZnF_C2H2	475	497	1.47e-3	SMART
ZnF_C2H2	503	525	8.47e-4	SMART
ZnF_C2H2	531	553	2.57e-3	SMART
ZnF_C2H2	559	581	8.47e-4	SMART
ZnF_C2H2	587	609	4.54e-4	SMART
ZnF_C2H2	615	636	1.26e1	SMART
ZnF_C2H2	642	664	5.59e-4	SMART
ZnF_C2H2	670	692	3.21e-4	SMART
ZnF_C2H2	698	720	2.24e-3	SMART
ZnF_C2H2	726	748	1.2e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	T	18: 69,083,208 (GRCm39)	M2K	unknown	Het
Ablim3	T	C	18: 61,955,065 (GRCm39)	D308G	probably damaging	Het
Adamts17	A	T	7: 66,618,597 (GRCm39)	K370N	probably benign	Het
Adcy4	T	C	14: 56,015,784 (GRCm39)	Y435C	probably damaging	Het
Adgb	A	T	10: 10,253,693 (GRCm39)	F1216I	possibly damaging	Het
Akr1a1	G	A	4: 116,498,251 (GRCm39)	T98I	probably damaging	Het
Alyref2	G	T	1: 171,331,101 (GRCm39)		probably benign	Het
Ank3	T	A	10: 69,658,079 (GRCm39)	H168Q	unknown	Het
Bnc1	A	C	7: 81,624,240 (GRCm39)	L329R	possibly damaging	Het
Btaf1	G	A	19: 36,935,782 (GRCm39)	A191T	probably benign	Het
Carmil3	T	G	14: 55,735,204 (GRCm39)		probably null	Het
Cd200r1	C	A	16: 44,610,211 (GRCm39)	D143E	probably benign	Het
Cep112	A	G	11: 108,699,507 (GRCm39)	H98R	probably benign	Het
Cmya5	T	A	13: 93,205,831 (GRCm39)	Q3346L	probably damaging	Het
Cpne4	T	A	9: 104,749,939 (GRCm39)	V81E	possibly damaging	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Ctsj	A	T	13: 61,148,373 (GRCm39)	M307K	possibly damaging	Het
Ddhd2	G	T	8: 26,244,318 (GRCm39)	R103S	possibly damaging	Het
Depdc5	A	G	5: 33,085,280 (GRCm39)	T700A	probably benign	Het
Dhx57	A	C	17: 80,575,006 (GRCm39)	D657E	possibly damaging	Het
Dmbt1	G	A	7: 130,713,965 (GRCm39)	G1678S	unknown	Het
Dnajb1	A	G	8: 84,336,932 (GRCm39)	D234G	probably benign	Het
Dsc2	C	T	18: 20,174,983 (GRCm39)	V431M	possibly damaging	Het
Evi5	C	A	5: 107,957,689 (GRCm39)		probably null	Het
Exoc2	T	C	13: 31,090,646 (GRCm39)		probably null	Het
Foxo3	T	C	10: 42,073,356 (GRCm39)	D387G	probably benign	Het
Gda	A	G	19: 21,387,250 (GRCm39)	I325T	probably benign	Het
Iqgap1	A	G	7: 80,375,790 (GRCm39)	S1362P	probably damaging	Het
Klf10	G	T	15: 38,297,193 (GRCm39)	N282K	possibly damaging	Het
Mettl13	A	G	1: 162,375,723 (GRCm39)	Y35H	probably damaging	Het
Mill2	A	G	7: 18,592,215 (GRCm39)	T279A	probably benign	Het
Ncaph2	G	A	15: 89,254,459 (GRCm39)	W386*	probably null	Het
Nploc4	A	T	11: 120,299,707 (GRCm39)	S338T	probably benign	Het
Nrip1	T	C	16: 76,090,775 (GRCm39)	S261G	probably damaging	Het
Or2y16	T	C	11: 49,335,227 (GRCm39)	F183S	possibly damaging	Het
Or5al1	A	G	2: 85,989,874 (GRCm39)	V280A	possibly damaging	Het
Or7a38	T	A	10: 78,752,677 (GRCm39)	M1K	probably null	Het
Palld	A	G	8: 61,985,086 (GRCm39)	F1060L	unknown	Het
Pfas	C	G	11: 68,894,600 (GRCm39)	V22L	probably benign	Het
Pygo2	T	G	3: 89,340,128 (GRCm39)	F175L	probably benign	Het
Rnf2	T	C	1: 151,347,131 (GRCm39)	E316G	probably damaging	Het
Rtn4	T	A	11: 29,657,772 (GRCm39)	M642K	probably damaging	Het
Saa3	A	G	7: 46,364,347 (GRCm39)	C60R	unknown	Het
Saxo5	A	G	8: 3,537,079 (GRCm39)	K475R	probably benign	Het
Scap	A	G	9: 110,202,237 (GRCm39)	T202A	probably benign	Het
Scn9a	T	A	2: 66,370,894 (GRCm39)	D562V	probably damaging	Het
Slc6a19	A	T	13: 73,838,010 (GRCm39)	V163E	possibly damaging	Het
Smc5	G	A	19: 23,192,539 (GRCm39)	H850Y	possibly damaging	Het
Spef1l	A	T	7: 139,555,965 (GRCm39)	C225*	probably null	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Sulf1	T	C	1: 12,908,585 (GRCm39)	Y533H	probably benign	Het
Thbs2	A	G	17: 14,893,412 (GRCm39)	S923P	possibly damaging	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tmem132c	A	G	5: 127,640,990 (GRCm39)	K1054E	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnrc6c	T	A	11: 117,612,780 (GRCm39)	C313S	probably benign	Het
Top6bl	G	A	19: 4,713,586 (GRCm39)	R285*	probably null	Het
Tpm1	T	C	9: 66,935,449 (GRCm39)	I284M	probably benign	Het
Trpm4	A	T	7: 44,964,064 (GRCm39)	L722H	possibly damaging	Het
Trub2	T	G	2: 29,676,607 (GRCm39)	Q41P	probably benign	Het
Usp17le	A	C	7: 104,417,514 (GRCm39)		probably null	Het
Zfp398	G	A	6: 47,835,884 (GRCm39)	V148I	probably benign	Het
Zfp618	T	A	4: 63,013,622 (GRCm39)		probably null	Het
Zfp667	T	A	7: 6,308,949 (GRCm39)	I539N	possibly damaging	Het
Zfp738	A	T	13: 67,818,369 (GRCm39)	C541S	probably damaging	Het

Other mutations in Zfp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Zfp40	APN	17	23,394,716 (GRCm39)	missense	probably benign	0.18
IGL02664:Zfp40	APN	17	23,395,960 (GRCm39)	missense	probably benign	0.14
IGL02729:Zfp40	APN	17	23,397,285 (GRCm39)	missense	probably damaging	0.99
R1288:Zfp40	UTSW	17	23,401,136 (GRCm39)	missense	probably benign	0.01
R1450:Zfp40	UTSW	17	23,394,232 (GRCm39)	missense	probably benign	0.15
R1535:Zfp40	UTSW	17	23,394,843 (GRCm39)	missense	probably damaging	1.00
R1655:Zfp40	UTSW	17	23,396,240 (GRCm39)	missense	probably benign	0.01
R1797:Zfp40	UTSW	17	23,394,514 (GRCm39)	missense	possibly damaging	0.93
R2254:Zfp40	UTSW	17	23,397,344 (GRCm39)	missense	possibly damaging	0.92
R3764:Zfp40	UTSW	17	23,396,101 (GRCm39)	missense	possibly damaging	0.49
R4356:Zfp40	UTSW	17	23,396,164 (GRCm39)	missense	probably benign	0.15
R4402:Zfp40	UTSW	17	23,395,693 (GRCm39)	missense	possibly damaging	0.49
R4781:Zfp40	UTSW	17	23,394,629 (GRCm39)	missense	probably damaging	0.99
R4792:Zfp40	UTSW	17	23,396,008 (GRCm39)	missense	possibly damaging	0.79
R6142:Zfp40	UTSW	17	23,395,311 (GRCm39)	missense	probably benign	0.40
R6179:Zfp40	UTSW	17	23,397,354 (GRCm39)	missense	possibly damaging	0.51
R6759:Zfp40	UTSW	17	23,395,510 (GRCm39)	missense	possibly damaging	0.95
R7294:Zfp40	UTSW	17	23,395,411 (GRCm39)	missense	possibly damaging	0.60
R7332:Zfp40	UTSW	17	23,395,155 (GRCm39)	nonsense	probably null
R7462:Zfp40	UTSW	17	23,397,362 (GRCm39)	missense	possibly damaging	0.71
R7479:Zfp40	UTSW	17	23,396,292 (GRCm39)	missense	probably benign	0.23
R7641:Zfp40	UTSW	17	23,397,257 (GRCm39)	missense	possibly damaging	0.92
R7725:Zfp40	UTSW	17	23,397,251 (GRCm39)	missense	probably benign	0.38
R7825:Zfp40	UTSW	17	23,395,301 (GRCm39)	missense	probably benign	0.24
R7839:Zfp40	UTSW	17	23,395,963 (GRCm39)	missense	probably damaging	0.99
R7881:Zfp40	UTSW	17	23,410,440 (GRCm39)	unclassified	probably benign
R8501:Zfp40	UTSW	17	23,397,272 (GRCm39)	missense	probably damaging	0.99
R8722:Zfp40	UTSW	17	23,395,157 (GRCm39)	missense	probably damaging	1.00
R8853:Zfp40	UTSW	17	23,394,691 (GRCm39)	missense	possibly damaging	0.95
R8945:Zfp40	UTSW	17	23,401,201 (GRCm39)	missense	probably benign
R9206:Zfp40	UTSW	17	23,394,551 (GRCm39)	missense	probably damaging	0.98
R9208:Zfp40	UTSW	17	23,394,551 (GRCm39)	missense	probably damaging	0.98
R9406:Zfp40	UTSW	17	23,396,129 (GRCm39)	missense	possibly damaging	0.91
R9640:Zfp40	UTSW	17	23,394,493 (GRCm39)	missense	probably damaging	1.00
R9765:Zfp40	UTSW	17	23,395,863 (GRCm39)	nonsense	probably null
X0022:Zfp40	UTSW	17	23,396,128 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTAAGACTCCTCTTCAGAGTGAATTC -3'
(R):5'- AGTGATAACCAATGGGATCCATC -3'

Sequencing Primer
(F):5'- CCTCTTCAGAGTGAATTCTGTAATG -3'
(R):5'- CCAATGGGATCCATCTAATGAATC -3'

Posted On

2019-09-13