Mutagenetix > Incidental Mutation

Incidental Mutation 'R8945:Zfp40'

681269

Institutional Source

Beutler Lab

Gene Symbol

Zfp40

Ensembl Gene

ENSMUSG00000002617

Gene Name

zinc finger protein 40

Synonyms

Zfp-40, NTfin12

MMRRC Submission

068713-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23392843-23412226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23401201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 14 (V14A)

Ref Sequence

ENSEMBL: ENSMUSP00000128758 (fasta)

Gene Model

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

AlphaFold

B1B1D3

Predicted Effect

probably benign
Transcript: ENSMUST00000037057
AA Change: V14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: V14A

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 benign
Transcript: ENSMUST00000140313

SMART Domains

Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617

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 benign
Transcript: ENSMUST00000172177
AA Change: V14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: V14A

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	G	T	13: 63,388,145 (GRCm39)	K709N	probably null	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atp6v0a2	G	T	5: 124,784,589 (GRCm39)	A291S	probably damaging	Het
Bcl9l	G	T	9: 44,412,238 (GRCm39)	V38L	possibly damaging	Het
Bmp1	T	C	14: 70,727,630 (GRCm39)	Y651C	probably damaging	Het
Btnl9	T	C	11: 49,065,661 (GRCm39)	E398G	probably benign	Het
C2cd3	A	T	7: 100,040,286 (GRCm39)	N285I	possibly damaging	Het
Cavin1	T	C	11: 100,849,659 (GRCm39)	T324A	probably damaging	Het
Ccdc73	A	G	2: 104,821,712 (GRCm39)	T554A	probably benign	Het
Clcn1	A	T	6: 42,263,701 (GRCm39)	M1L	possibly damaging	Het
Clec18a	A	T	8: 111,808,201 (GRCm39)	S77T	possibly damaging	Het
Dhx32	A	G	7: 133,323,876 (GRCm39)		probably null	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah10	A	C	5: 124,891,006 (GRCm39)	E3199A	probably damaging	Het
Dnah11	G	T	12: 117,987,718 (GRCm39)	L2395I	probably benign	Het
Dthd1	A	T	5: 63,007,096 (GRCm39)	Y599F	probably benign	Het
Dusp26	G	A	8: 31,586,367 (GRCm39)	R196K	unknown	Het
Dyrk1a	A	G	16: 94,466,866 (GRCm39)	Y140C	probably damaging	Het
Elmo1	T	A	13: 20,766,438 (GRCm39)	Y588*	probably null	Het
Eml6	T	A	11: 29,703,110 (GRCm39)	T1603S	probably damaging	Het
Fam162b	T	C	10: 51,466,469 (GRCm39)	T17A	probably benign	Het
Fnbp1	T	A	2: 30,995,346 (GRCm39)	K29N	probably damaging	Het
Fzd4	A	T	7: 89,056,792 (GRCm39)	I280L	possibly damaging	Het
G3bp2	G	A	5: 92,216,281 (GRCm39)	T85I	probably damaging	Het
Gm13283	C	T	4: 88,679,123 (GRCm39)	A38V	probably benign	Het
Hps3	T	A	3: 20,068,224 (GRCm39)	H610L	probably damaging	Het
Ifnlr1	T	G	4: 135,431,609 (GRCm39)	L266R	probably damaging	Het
Jak1	A	T	4: 101,020,109 (GRCm39)	D683E	probably benign	Het
Lrrc1	G	A	9: 77,342,373 (GRCm39)	T412M	probably damaging	Het
Mdga1	G	T	17: 30,058,959 (GRCm39)		probably benign	Het
Med26	T	C	8: 73,250,934 (GRCm39)	K55R	probably benign	Het
Mturn	C	A	6: 54,666,017 (GRCm39)	C63*	probably null	Het
Myo1h	A	C	5: 114,470,784 (GRCm39)	D381A	probably damaging	Het
Nectin1	A	G	9: 43,703,237 (GRCm39)	D165G	probably benign	Het
Nktr	T	A	9: 121,575,558 (GRCm39)	D330E	possibly damaging	Het
Oprm1	A	T	10: 6,782,644 (GRCm39)		probably benign	Het
Papola	T	A	12: 105,775,946 (GRCm39)		probably benign	Het
Pdcl2	A	T	5: 76,465,675 (GRCm39)	C134S	probably damaging	Het
Plch1	T	C	3: 63,639,039 (GRCm39)	Y478C	probably benign	Het
Rev1	A	T	1: 38,122,824 (GRCm39)	W465R	probably damaging	Het
Rp1	T	A	1: 4,419,817 (GRCm39)	I432F	probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Sdk1	G	T	5: 141,598,935 (GRCm39)	C200F	probably benign	Het
Spmip2	A	G	3: 79,252,812 (GRCm39)	H9R	probably benign	Het
Spsb1	T	C	4: 149,991,475 (GRCm39)	Y31C	possibly damaging	Het
Spz1	T	C	13: 92,711,499 (GRCm39)	K326E	possibly damaging	Het
Tcaf1	C	T	6: 42,663,307 (GRCm39)	S191N	probably benign	Het
Tex15	A	G	8: 34,064,724 (GRCm39)	S1385G	probably benign	Het
Tmem38a	C	T	8: 73,338,570 (GRCm39)	A194V	probably damaging	Het
Trappc9	T	C	15: 72,929,945 (GRCm39)	N137S	probably benign	Het
Tshr	T	C	12: 91,504,997 (GRCm39)	L645P	probably damaging	Het
Tspyl4	T	A	10: 34,173,461 (GRCm39)		probably benign	Het
Unc13a	T	A	8: 72,100,597 (GRCm39)	I1064F	probably damaging	Het
Utp20	G	A	10: 88,628,532 (GRCm39)	Q921*	probably null	Het
Vps13a	A	T	19: 16,642,114 (GRCm39)	I2171N	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
R8853:Zfp40	UTSW	17	23,394,691 (GRCm39)	missense	possibly damaging	0.95
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'- CTTGACCCAAAGCAGGCTTG -3'
(R):5'- TGCAGTGATAAGACCCATAGTTAC -3'

Sequencing Primer
(F):5'- CAGGCTTGCATGGTTTCAAAAAC -3'
(R):5'- GACCCATAGTTACTTCCTTTCATCAG -3'

Posted On

2021-08-31