Mutagenetix > Incidental Mutation

Incidental Mutation 'R7825:Zfp40'

602153

Institutional Source

Beutler Lab

Gene Symbol

Zfp40

Ensembl Gene

ENSMUSG00000002617

Gene Name

zinc finger protein 40

Synonyms

Zfp-40, NTfin12

MMRRC Submission

045879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23392843-23412226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23395301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 429 (T429A)

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: T429A

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: T429A

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
AA Change: T361A

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: T361A

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: T429A

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: T429A

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,182,654 (GRCm39)	R270C	probably damaging	Het
Adprs	C	A	4: 126,215,489 (GRCm39)		probably benign	Het
Akp3	TCACCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCACCAC	1: 87,055,489 (GRCm39)		probably benign	Het
Ambra1	A	G	2: 91,598,106 (GRCm39)	H89R	probably damaging	Het
Atp1a1	T	C	3: 101,493,485 (GRCm39)	N540D	probably benign	Het
Cd38	A	T	5: 44,058,797 (GRCm39)	H137L	probably damaging	Het
Clasp1	T	C	1: 118,473,123 (GRCm39)	V3A	probably benign	Het
Cmya5	G	T	13: 93,234,136 (GRCm39)	H317Q	possibly damaging	Het
Cpeb2	A	T	5: 43,394,882 (GRCm39)	D95V	probably damaging	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dcst1	A	G	3: 89,260,128 (GRCm39)	L572P	possibly damaging	Het
Eif3e	A	C	15: 43,129,667 (GRCm39)		probably null	Het
Ephb4	T	C	5: 137,370,699 (GRCm39)	S911P	probably damaging	Het
Fam186b	T	C	15: 99,181,728 (GRCm39)	T157A	not run	Het
Gnmt	T	C	17: 47,040,019 (GRCm39)	D20G	probably damaging	Het
Gpatch8	A	C	11: 102,372,268 (GRCm39)	D423E	unknown	Het
Gtf3c2	T	C	5: 31,315,715 (GRCm39)	H790R	probably damaging	Het
Hepacam	T	C	9: 37,296,064 (GRCm39)	I405T	probably benign	Het
Hspg2	T	A	4: 137,286,160 (GRCm39)	V3574E	probably damaging	Het
Ifi202b	A	C	1: 173,802,616 (GRCm39)	F73V	probably damaging	Het
Kcnb1	A	T	2: 166,947,892 (GRCm39)	S319T	probably damaging	Het
Krt16	T	A	11: 100,139,460 (GRCm39)	D86V	unknown	Het
Krt76	T	A	15: 101,795,938 (GRCm39)	T411S	possibly damaging	Het
Myh8	A	T	11: 67,194,538 (GRCm39)	D1583V	possibly damaging	Het
Nav1	A	T	1: 135,377,782 (GRCm39)	V1689D	probably damaging	Het
Ncor2	T	C	5: 125,114,141 (GRCm39)	T611A	possibly damaging	Het
Nipbl	T	A	15: 8,320,971 (GRCm39)	Y2712F	probably damaging	Het
Ntng2	T	A	2: 29,094,090 (GRCm39)	H427L	probably benign	Het
Pcdhga4	T	A	18: 37,820,374 (GRCm39)	L641Q	probably damaging	Het
Phc1	T	C	6: 122,299,340 (GRCm39)	K623R	probably benign	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prcc	T	A	3: 87,777,052 (GRCm39)	E307D	possibly damaging	Het
Prss27	T	C	17: 24,261,932 (GRCm39)	F80S	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Serpina11	T	C	12: 103,950,836 (GRCm39)	Q295R	probably benign	Het
Sgk2	G	T	2: 162,848,801 (GRCm39)	V284L	possibly damaging	Het
Slc15a2	C	T	16: 36,573,396 (GRCm39)	V603I	possibly damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Stat1	A	G	1: 52,190,467 (GRCm39)	H574R	probably damaging	Het
Ston1	T	C	17: 88,943,881 (GRCm39)	V429A	possibly damaging	Het
Tep1	T	C	14: 51,081,344 (GRCm39)		probably null	Het
Tesk1	A	C	4: 43,447,143 (GRCm39)	R510S	probably damaging	Het
Themis	A	G	10: 28,658,470 (GRCm39)	E499G	probably benign	Het
Thra	G	A	11: 98,653,774 (GRCm39)	V202I	probably benign	Het
Tiam1	A	T	16: 89,694,977 (GRCm39)	M160K	probably benign	Het
Tmc1	T	C	19: 20,782,009 (GRCm39)	I570V	possibly damaging	Het
Treml1	C	A	17: 48,673,784 (GRCm39)	P270Q	probably damaging	Het
Ttc39d	A	G	17: 80,523,575 (GRCm39)	N78S	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ube3b	T	A	5: 114,539,373 (GRCm39)	L388Q	probably damaging	Het
Ugt2b35	T	A	5: 87,149,218 (GRCm39)	C156*	probably null	Het
Vmn1r35	A	T	6: 66,656,443 (GRCm39)	C76S	probably damaging	Het
Wwc2	A	G	8: 48,443,197 (GRCm39)	L12P	probably damaging	Het
Zfat	T	C	15: 68,051,769 (GRCm39)	E668G	probably benign	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
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'- TAAGGTTTCTCTCCTGTGTGAATTC -3'
(R):5'- AGGAGAGAGGCCTTATGAATGTA -3'

Sequencing Primer
(F):5'- TGATGCATTCTAAGATCCGAGCC -3'
(R):5'- ATGAATGTGGCAAATCCCTTTCC -3'

Posted On

2019-12-03