Mutagenetix > Incidental Mutation

Incidental Mutation 'R4402:Zfp40'

326702

Institutional Source

Beutler Lab

Gene Symbol

Zfp40

Ensembl Gene

ENSMUSG00000002617

Gene Name

zinc finger protein 40

Synonyms

Zfp-40, NTfin12

MMRRC Submission

042003-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4402 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23392843-23412226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23395693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 230 (H230L)

Ref Sequence

ENSEMBL: ENSMUSP00000121359 (fasta)

Gene Model

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

AlphaFold

B1B1D3

Predicted Effect

probably benign
Transcript: ENSMUST00000037057
AA Change: H298L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: H298L

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

noncoding transcript
Transcript: ENSMUST00000135840

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140313
AA Change: H230L

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: H230L

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

noncoding transcript
Transcript: ENSMUST00000142999

Predicted Effect

probably benign
Transcript: ENSMUST00000172177
AA Change: H298L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: H298L

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

Meta Mutation Damage Score

0.6859

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,020 (GRCm39)	H167Q	probably benign	Het
Adamts20	T	C	15: 94,277,827 (GRCm39)	T212A	probably benign	Het
Ap3b1	C	A	13: 94,554,607 (GRCm39)	L248I	probably damaging	Het
Atl1	T	G	12: 70,005,973 (GRCm39)	D426E	probably benign	Het
Cage1	T	A	13: 38,207,078 (GRCm39)	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Canx	T	C	11: 50,195,265 (GRCm39)	T268A	probably benign	Het
Chd7	A	T	4: 8,866,353 (GRCm39)	M842L	possibly damaging	Het
Clca4a	T	C	3: 144,658,609 (GRCm39)	T787A	probably benign	Het
Clstn3	T	C	6: 124,433,939 (GRCm39)	Y407C	probably damaging	Het
Copa	C	A	1: 171,929,791 (GRCm39)	T286N	probably damaging	Het
Cyb5a	G	A	18: 84,889,718 (GRCm39)	R49Q	possibly damaging	Het
Def6	A	G	17: 28,438,950 (GRCm39)	K219E	probably damaging	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Eif5	A	T	12: 111,508,183 (GRCm39)	K161N	probably benign	Het
Fras1	C	A	5: 96,790,479 (GRCm39)	T951K	probably damaging	Het
Gen1	A	T	12: 11,292,363 (GRCm39)	N475K	possibly damaging	Het
Gm14569	T	C	X: 35,697,146 (GRCm39)	Y521C	probably benign	Het
Gm6124	T	A	7: 38,870,529 (GRCm39)		noncoding transcript	Het
Gpt2	A	T	8: 86,252,188 (GRCm39)	D501V	probably benign	Het
Gstm2	T	C	3: 107,893,370 (GRCm39)	K31R	probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Itga1	T	A	13: 115,138,102 (GRCm39)	M428L	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcnn4	T	C	7: 24,076,867 (GRCm39)	W139R	probably benign	Het
Kdm7a	T	A	6: 39,143,602 (GRCm39)	R380W	probably null	Het
Khdrbs1	T	G	4: 129,635,889 (GRCm39)	D22A	possibly damaging	Het
Liph	A	T	16: 21,795,000 (GRCm39)	I204N	probably damaging	Het
Loxhd1	A	G	18: 77,529,456 (GRCm39)	E2033G	possibly damaging	Het
M6pr	C	T	6: 122,291,982 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,709,915 (GRCm39)	I95T	probably damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Mug1	C	A	6: 121,856,311 (GRCm39)	F1030L	probably damaging	Het
Naca	C	T	10: 127,879,341 (GRCm39)		probably benign	Het
Nob1	A	T	8: 108,145,120 (GRCm39)		probably benign	Het
Nutm1	A	C	2: 112,080,154 (GRCm39)	I587R	probably damaging	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
Pcdhb2	A	G	18: 37,428,455 (GRCm39)	K143E	probably benign	Het
Pcnt	T	C	10: 76,228,227 (GRCm39)	Q1646R	probably benign	Het
Piwil2	A	T	14: 70,646,365 (GRCm39)	D390E	probably benign	Het
Pkhd1	A	G	1: 20,309,635 (GRCm39)	L2771P	probably damaging	Het
Pla2g1b	T	A	5: 115,608,947 (GRCm39)	Y47*	probably null	Het
Plekhn1	T	C	4: 156,309,813 (GRCm39)	T135A	probably damaging	Het
Pola1	T	C	X: 92,605,029 (GRCm39)	Y968C	probably damaging	Het
Ppp1r26	C	A	2: 28,341,618 (GRCm39)	T416K	probably benign	Het
Psmd1	A	G	1: 86,003,673 (GRCm39)	I153V	possibly damaging	Het
Rcan2	A	G	17: 44,264,361 (GRCm39)	D7G	probably benign	Het
Rexo5	T	C	7: 119,433,599 (GRCm39)	I326T	possibly damaging	Het
Rps6kc1	A	G	1: 190,530,802 (GRCm39)		probably benign	Het
Shc1	T	C	3: 89,333,985 (GRCm39)	S273P	probably benign	Het
Slc9b2	T	C	3: 135,042,305 (GRCm39)	V528A	probably benign	Het
Tas2r118	T	C	6: 23,969,293 (GRCm39)	K256R	probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Tnfaip2	T	C	12: 111,416,285 (GRCm39)	F516L	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Wdr35	A	G	12: 9,039,981 (GRCm39)	D362G	probably damaging	Het
Wwp2	T	C	8: 108,184,610 (GRCm39)	V106A	probably benign	Het
Zkscan17	T	A	11: 59,393,848 (GRCm39)	M1L	possibly 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
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
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'- TCTTTGAAGACCTGAAGAGGAGG -3'
(R):5'- TTGTGTTCCATCATTGGCTCATA -3'

Sequencing Primer
(F):5'- GGAAAGGGATTTGCCACATTC -3'
(R):5'- TCAAGTCTCTATAGGCATCGGAG -3'

Posted On

2015-07-07