Mutagenetix > Incidental Mutation

Incidental Mutation 'R7641:Zfp40'

590267

Institutional Source

Beutler Lab

Gene Symbol

Zfp40

Ensembl Gene

ENSMUSG00000002617

Gene Name

zinc finger protein 40

Synonyms

Zfp-40, NTfin12

MMRRC Submission

045699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7641 (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 23397257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 80 (V80A)

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: V80A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: V80A

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: V12A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: V12A

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

possibly damaging
Transcript: ENSMUST00000172177
AA Change: V80A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: V80A

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: 99.1%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,657,370 (GRCm39)	Q641L	probably benign	Het
Aknad1	A	T	3: 108,679,291 (GRCm39)	H474L	probably benign	Het
Alkal1	A	T	1: 6,459,712 (GRCm39)	Y96F	probably damaging	Het
Cars1	A	G	7: 143,140,840 (GRCm39)		probably null	Het
Chtf18	A	T	17: 25,941,249 (GRCm39)		probably null	Het
Cog2	C	A	8: 125,264,621 (GRCm39)	N333K	probably damaging	Het
Col6a5	T	A	9: 105,758,625 (GRCm39)	R2194*	probably null	Het
Dnah14	A	T	1: 181,535,098 (GRCm39)	I2355L	probably benign	Het
Dock8	G	A	19: 25,151,697 (GRCm39)		probably null	Het
Dpy19l3	A	C	7: 35,394,734 (GRCm39)	D601E	probably damaging	Het
Elf1	G	A	14: 79,808,163 (GRCm39)	G205E	probably damaging	Het
Fsip2	A	T	2: 82,817,256 (GRCm39)	K4330*	probably null	Het
Gm6525	A	T	3: 84,082,150 (GRCm39)	T24S	probably benign	Het
Golga4	G	T	9: 118,386,643 (GRCm39)	R1255L	probably benign	Het
Gpn2	A	T	4: 133,315,970 (GRCm39)	Q243L	probably null	Het
Grb10	T	C	11: 11,883,492 (GRCm39)	K588E	possibly damaging	Het
Gys1	T	C	7: 45,104,495 (GRCm39)	S641P	probably damaging	Het
H2-M5	T	A	17: 37,298,323 (GRCm39)	M331L	probably benign	Het
Ighv6-6	T	A	12: 114,398,837 (GRCm39)	I10L	probably benign	Het
Jmy	C	T	13: 93,579,107 (GRCm39)	R675Q	probably damaging	Het
Lonp2	A	T	8: 87,392,386 (GRCm39)	Q484L	probably benign	Het
Map3k20	T	A	2: 72,228,705 (GRCm39)	L308H	probably damaging	Het
Mep1b	T	C	18: 21,228,034 (GRCm39)	F546L	possibly damaging	Het
Mier1	A	G	4: 102,996,637 (GRCm39)	E133G	possibly damaging	Het
Msh3	C	A	13: 92,349,011 (GRCm39)	V1074L	probably benign	Het
Muc6	A	T	7: 141,224,247 (GRCm39)	L1645Q	unknown	Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Pdyn	A	T	2: 129,531,748 (GRCm39)	V14E	possibly damaging	Het
Prdm16	T	A	4: 154,429,901 (GRCm39)	H356L	probably damaging	Het
Rasa3	A	G	8: 13,634,961 (GRCm39)	C453R	probably benign	Het
Rasgrf2	C	T	13: 92,267,914 (GRCm39)	S30N	possibly damaging	Het
Rlf	A	G	4: 121,016,393 (GRCm39)	S315P	probably damaging	Het
Rusc2	C	T	4: 43,425,335 (GRCm39)	R1147W	possibly damaging	Het
Sacs	T	A	14: 61,440,320 (GRCm39)	Y789N	probably damaging	Het
Sap130	T	C	18: 31,786,676 (GRCm39)	L289P	probably damaging	Het
Septin3	A	G	15: 82,174,983 (GRCm39)	Y308C	probably damaging	Het
Slc2a12	A	G	10: 22,569,893 (GRCm39)	D528G	probably damaging	Het
Slc2a13	A	G	15: 91,156,359 (GRCm39)	*638Q	probably null	Het
Smchd1	T	A	17: 71,697,474 (GRCm39)	E1155D	probably benign	Het
Sorcs2	G	A	5: 36,555,296 (GRCm39)	R32C	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Tonsl	C	T	15: 76,517,852 (GRCm39)	D650N	probably damaging	Het
Tti1	A	T	2: 157,850,949 (GRCm39)	F97I	possibly damaging	Het
Ttn	T	C	2: 76,572,554 (GRCm39)	Q26113R	possibly damaging	Het
Unc5d	A	T	8: 29,210,003 (GRCm39)	N444K	probably damaging	Het
Usp17la	A	T	7: 104,510,654 (GRCm39)	K420*	probably null	Het
Vmn2r114	T	C	17: 23,527,177 (GRCm39)	N452D	possibly damaging	Het
Vps16	T	C	2: 130,282,448 (GRCm39)	V427A	probably benign	Het
Wdr5b	T	A	16: 35,862,712 (GRCm39)	V277D	probably damaging	Het
Zan	T	A	5: 137,465,370 (GRCm39)	M462L	possibly damaging	Het
Zfp930	A	T	8: 69,681,337 (GRCm39)	H344L	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
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'- GTTGCACAATACTGACTTTCATTGC -3'
(R):5'- GAAAGCATTTTGTCAACAGCAC -3'

Sequencing Primer
(F):5'- AGGTTTCTTTCAACTCTGAATTTAGG -3'
(R):5'- TTTGTCAACAGCACATGGTAAATGGG -3'

Posted On

2019-10-24