Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Zfp40'

698554

Institutional Source

Beutler Lab

Gene Symbol

Zfp40

Ensembl Gene

ENSMUSG00000002617

Gene Name

zinc finger protein 40

Synonyms

NTfin12, Zfp-40

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23173869-23193252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23175577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 679 (F679L)

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: F679L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: F679L

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: F611L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: F611L

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: F679L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: F679L

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,509,404	D248G	probably benign	Het
Abcc5	C	A	16: 20,389,389	V605F	probably benign	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Als2	A	G	1: 59,185,247	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Apex1	T	G	14: 50,925,668	D69E	possibly damaging	Het
Atg13	A	T	2: 91,682,061	F288I	probably benign	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
Atoh1	A	G	6: 64,729,729	E136G	probably benign	Het
Ccr7	T	C	11: 99,149,069	N9S	probably benign	Het
Cdhr1	A	C	14: 37,080,548	W653G	probably damaging	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Crnn	A	C	3: 93,146,944	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dnah7a	G	T	1: 53,501,598	T2539N	probably benign	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fat4	G	C	3: 39,009,241	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,038,210	L964S	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm973	A	T	1: 59,552,426	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Iars2	A	T	1: 185,317,949	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,777,603	S545P	probably damaging	Het
Kif1a	G	T	1: 93,051,480	D928E	probably damaging	Het
Kif26a	C	T	12: 112,178,046	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,243,358		probably null	Het
Klhl31	T	A	9: 77,651,107	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,250,451	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,322,925	C924S	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,558,231	L425M	possibly damaging	Het
Nop9	T	A	14: 55,750,135		probably null	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,897,808	M1I	probably null	Het
Olfr1314	A	G	2: 112,092,065	F212S	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,314,098	Y469*	probably null	Het
Rbm33	A	G	5: 28,352,586	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rcor3	A	T	1: 192,101,595	*448R	probably null	Het
Scn10a	T	C	9: 119,616,761	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,717,787	I1108F	probably damaging	Het
Scrn2	T	C	11: 97,032,136	I135T	probably damaging	Het
Sptan1	A	T	2: 30,030,712	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,836,998	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Tor4a	A	T	2: 25,194,963	N309K	probably damaging	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Tvp23b	T	C	11: 62,882,016	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,559,611	I156F	probably damaging	Het
Wnk4	T	C	11: 101,274,056	I737T	probably damaging	Het
Zfp329	A	T	7: 12,811,158	D146E	probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp804b	T	C	5: 6,772,154	N303S	probably benign	Het

Other mutations in Zfp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Zfp40	APN	17	23175742	missense	probably benign	0.18
IGL02664:Zfp40	APN	17	23176986	missense	probably benign	0.14
IGL02729:Zfp40	APN	17	23178311	missense	probably damaging	0.99
R1288:Zfp40	UTSW	17	23182162	missense	probably benign	0.01
R1450:Zfp40	UTSW	17	23175258	missense	probably benign	0.15
R1535:Zfp40	UTSW	17	23175869	missense	probably damaging	1.00
R1655:Zfp40	UTSW	17	23177266	missense	probably benign	0.01
R1797:Zfp40	UTSW	17	23175540	missense	possibly damaging	0.93
R2254:Zfp40	UTSW	17	23178370	missense	possibly damaging	0.92
R3764:Zfp40	UTSW	17	23177127	missense	possibly damaging	0.49
R4356:Zfp40	UTSW	17	23177190	missense	probably benign	0.15
R4402:Zfp40	UTSW	17	23176719	missense	possibly damaging	0.49
R4781:Zfp40	UTSW	17	23175655	missense	probably damaging	0.99
R4792:Zfp40	UTSW	17	23177034	missense	possibly damaging	0.79
R6142:Zfp40	UTSW	17	23176337	missense	probably benign	0.40
R6179:Zfp40	UTSW	17	23178380	missense	possibly damaging	0.51
R6759:Zfp40	UTSW	17	23176536	missense	possibly damaging	0.95
R7294:Zfp40	UTSW	17	23176437	missense	possibly damaging	0.60
R7332:Zfp40	UTSW	17	23176181	nonsense	probably null
R7386:Zfp40	UTSW	17	23177007	missense	probably damaging	0.96
R7462:Zfp40	UTSW	17	23178388	missense	possibly damaging	0.71
R7479:Zfp40	UTSW	17	23177318	missense	probably benign	0.23
R7641:Zfp40	UTSW	17	23178283	missense	possibly damaging	0.92
R7725:Zfp40	UTSW	17	23178277	missense	probably benign	0.38
R7825:Zfp40	UTSW	17	23176327	missense	probably benign	0.24
R7839:Zfp40	UTSW	17	23176989	missense	probably damaging	0.99
R7881:Zfp40	UTSW	17	23191466	unclassified	probably benign
R8501:Zfp40	UTSW	17	23178298	missense	probably damaging	0.99
R8722:Zfp40	UTSW	17	23176183	missense	probably damaging	1.00
R8853:Zfp40	UTSW	17	23175717	missense	possibly damaging	0.95
R8945:Zfp40	UTSW	17	23182227	missense	probably benign
R9208:Zfp40	UTSW	17	23175577	missense	probably damaging	0.98
R9406:Zfp40	UTSW	17	23177155	missense	possibly damaging	0.91
R9640:Zfp40	UTSW	17	23175519	missense	probably damaging	1.00
R9765:Zfp40	UTSW	17	23176889	nonsense	probably null
X0022:Zfp40	UTSW	17	23177154	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCTAAAGCATATGCCACAGT -3'
(R):5'- GGAAATCCTTTACAGTTGGCTCAG -3'

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

Posted On

2022-02-07