Mutagenetix > Incidental Mutation

Incidental Mutation 'R8853:Zfp40'

675144

Institutional Source

Beutler Lab

Gene Symbol

Zfp40

Ensembl Gene

ENSMUSG00000002617

Gene Name

zinc finger protein 40

Synonyms

Zfp-40, NTfin12

MMRRC Submission

068675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8853 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23392843-23412226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23394691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 632 (H632L)

Ref Sequence

ENSEMBL: ENSMUSP00000039794 (fasta)

Gene Model

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

AlphaFold

B1B1D3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037057
AA Change: H632L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: H632L

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

possibly damaging
Transcript: ENSMUST00000140313
AA Change: H564L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: H564L

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

SMART Domains

Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: H632L

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

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1	A	T	6: 48,882,994 (GRCm39)	Y290F	probably benign	Het
Ap5m1	T	A	14: 49,311,337 (GRCm39)	L136M	possibly damaging	Het
Arpp21	T	G	9: 111,976,516 (GRCm39)	T322P	probably damaging	Het
Atp6v1c2	C	T	12: 17,351,148 (GRCm39)	V128M	possibly damaging	Het
C4b	A	G	17: 34,948,879 (GRCm39)	V1523A	possibly damaging	Het
Copg2	G	C	6: 30,803,115 (GRCm39)	L277V	probably benign	Het
Cyp2b19	A	G	7: 26,456,645 (GRCm39)	T12A	possibly damaging	Het
D5Ertd579e	A	T	5: 36,787,024 (GRCm39)	C115S	probably damaging	Het
Defb35	G	A	8: 22,430,806 (GRCm39)	R60Q	unknown	Het
Dlgap3	T	A	4: 127,088,810 (GRCm39)	D135E	probably damaging	Het
Dync2h1	A	T	9: 7,117,645 (GRCm39)	W2215R	possibly damaging	Het
Eea1	G	C	10: 95,857,517 (GRCm39)	A660P		Het
Egfr	A	G	11: 16,858,885 (GRCm39)	I955V	possibly damaging	Het
Eif3b	G	A	5: 140,425,774 (GRCm39)	V655M	probably damaging	Het
Elp3	T	A	14: 65,815,390 (GRCm39)	I220F	probably benign	Het
Ern2	A	G	7: 121,772,967 (GRCm39)	V550A	probably damaging	Het
Evc	G	A	5: 37,460,647 (GRCm39)	S857L	possibly damaging	Het
Glt28d2	T	A	3: 85,779,087 (GRCm39)	M129L	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,547,726 (GRCm39)	Y2742N	probably damaging	Het
Klhl6	T	A	16: 19,765,979 (GRCm39)	Q541L	possibly damaging	Het
Myh14	G	A	7: 44,265,678 (GRCm39)	T1559I	probably benign	Het
Myo7b	A	G	18: 32,119,744 (GRCm39)	F783L	possibly damaging	Het
Myrip	C	T	9: 120,290,487 (GRCm39)	A702V	probably damaging	Het
Ndnf	C	A	6: 65,680,161 (GRCm39)	Q147K	probably benign	Het
Necab2	C	G	8: 120,189,339 (GRCm39)	R170G	possibly damaging	Het
Nfatc4	T	C	14: 56,063,690 (GRCm39)	I59T	probably damaging	Het
Nfix	A	G	8: 85,454,276 (GRCm39)	S211P	probably damaging	Het
Nlrp5	A	T	7: 23,117,725 (GRCm39)	Q483L	possibly damaging	Het
Or6k14	T	C	1: 173,927,861 (GRCm39)	V279A	probably damaging	Het
Pde4a	A	G	9: 21,106,119 (GRCm39)	T245A	possibly damaging	Het
Peli2	C	T	14: 48,493,945 (GRCm39)	T389M	probably damaging	Het
Pfas	T	C	11: 68,883,744 (GRCm39)	K638E	probably damaging	Het
Pkhd1	A	G	1: 20,143,679 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,688,967 (GRCm39)	D67G	probably damaging	Het
Plcl2	A	T	17: 50,913,884 (GRCm39)	R298*	probably null	Het
Ppp1r13l	A	G	7: 19,103,893 (GRCm39)	I125V	probably benign	Het
Ppp2r3d	A	G	9: 101,090,110 (GRCm39)	V71A	probably benign	Het
Pvr	A	G	7: 19,650,897 (GRCm39)	V209A	possibly damaging	Het
Rap1gap2	A	G	11: 74,298,198 (GRCm39)	L414P	probably damaging	Het
Rasgrp2	A	G	19: 6,464,855 (GRCm39)	D601G	probably damaging	Het
Reck	T	A	4: 43,912,089 (GRCm39)	N199K	probably benign	Het
Rin2	G	T	2: 145,718,475 (GRCm39)	A652S	possibly damaging	Het
Rnf34	T	C	5: 123,002,087 (GRCm39)	L88P	possibly damaging	Het
Serpina3m	A	G	12: 104,355,914 (GRCm39)	I194V	probably benign	Het
Spred3	A	G	7: 28,861,415 (GRCm39)	S255P	probably benign	Het
Sult2a7	A	G	7: 14,225,641 (GRCm39)		probably null	Het
Synpo2l	C	A	14: 20,711,442 (GRCm39)	G622C	probably damaging	Het
Tenm3	A	G	8: 48,795,382 (GRCm39)	C582R	probably damaging	Het
Tex261	A	T	6: 83,750,727 (GRCm39)	I90N	probably damaging	Het
Trappc11	A	G	8: 47,982,439 (GRCm39)	F100S	probably damaging	Het
Trhde	G	A	10: 114,636,830 (GRCm39)	P126S	probably benign	Het
Vmn2r53	A	T	7: 12,315,737 (GRCm39)	V694E	probably damaging	Het
Vmn2r54	A	T	7: 12,349,782 (GRCm39)	L600Q	probably damaging	Het
Vwf	G	A	6: 125,634,227 (GRCm39)	C2174Y		Het
Wee2	A	G	6: 40,441,200 (GRCm39)	T502A	probably benign	Het
Zfp112	A	T	7: 23,823,390 (GRCm39)		silent	Het
Zmynd11	T	C	13: 9,740,965 (GRCm39)	S378G	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
R7386:Zfp40	UTSW	17	23,395,981 (GRCm39)	missense	probably damaging	0.96
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
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'- AGGTAGGCTTCTTGGATAAAGG -3'
(R):5'- TCAGGAAAGCCAACCTTAGGA -3'

Sequencing Primer
(F):5'- GTTTTCTAAGAACTGAGCCACCAG -3'
(R):5'- TAGGAGACATCACAGAATTCATACAG -3'

Posted On

2021-07-15