Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:Zfp541'

312935

Institutional Source

Beutler Lab

Gene Symbol

Zfp541

Ensembl Gene

ENSMUSG00000078796

Gene Name

zinc finger protein 541

Synonyms

EG666528

MMRRC Submission

040841-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

R3973 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

16061814-16096334 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16072222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 94 (D94G)

Ref Sequence

ENSEMBL: ENSMUSP00000148143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108509] [ENSMUST00000209369] [ENSMUST00000210805]

AlphaFold

Q0GGX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000108509
AA Change: D94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104149
Gene: ENSMUSG00000078796
AA Change: D94G

Domain	Start	End	E-Value	Type
low complexity region	48	65	N/A	INTRINSIC
ZnF_C2H2	140	162	2.24e-3	SMART
ZnF_C2H2	168	190	4.47e-3	SMART
ZnF_C2H2	196	221	2.36e-2	SMART
low complexity region	249	260	N/A	INTRINSIC
low complexity region	362	374	N/A	INTRINSIC
low complexity region	444	465	N/A	INTRINSIC
low complexity region	473	484	N/A	INTRINSIC
low complexity region	594	609	N/A	INTRINSIC
low complexity region	659	670	N/A	INTRINSIC
ZnF_C2H2	838	860	3.72e0	SMART
low complexity region	953	958	N/A	INTRINSIC
ELM2	1065	1122	4.46e-14	SMART
SANT	1171	1219	8.38e-7	SMART
low complexity region	1252	1263	N/A	INTRINSIC
ZnF_C2H2	1301	1323	1.01e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000209369
AA Change: D94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210805
AA Change: D94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1331

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,031	I486T	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,431	S466T	probably benign	Het
4933427D14Rik	T	C	11: 72,198,741	R106G	probably damaging	Het
Cfap54	A	G	10: 92,839,471	S2863P	possibly damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170	A232V	probably damaging	Het
Dst	T	G	1: 34,011,898	V25G	probably benign	Het
Ehbp1	C	T	11: 22,137,867	A406T	probably benign	Het
Eml5	A	T	12: 98,802,465		probably benign	Het
Eps8	A	T	6: 137,509,155	M453K	probably benign	Het
Galnt3	T	C	2: 66,107,030	D112G	possibly damaging	Het
Glra4	C	T	X: 136,762,793	A336T	probably damaging	Het
Gmppb	A	G	9: 108,050,139	D95G	probably benign	Het
Gprc6a	T	C	10: 51,628,448	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,059,486	V247D	probably damaging	Het
Htr7	T	C	19: 36,056,760	D165G	probably damaging	Het
Igha	T	C	12: 113,256,352		probably benign	Het
Igsf10	A	G	3: 59,331,924	C279R	probably damaging	Het
Irak4	A	G	15: 94,554,740	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,558,323	V274E	probably damaging	Het
Lrpprc	A	C	17: 84,770,841		probably null	Het
Mast1	T	C	8: 84,918,764	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363	F2382L	probably benign	Het
Mepe	C	T	5: 104,337,078	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,589,666	I171F	probably benign	Het
Muc2	T	A	7: 141,746,804		probably benign	Het
Myh3	C	T	11: 67,096,436	Q1371*	probably null	Het
Nodal	T	A	10: 61,423,054	V90E	probably benign	Het
Npas4	A	T	19: 4,986,551	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,824,236	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,754,586	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,641,816	D947G	probably damaging	Het
Pla2r1	A	G	2: 60,448,962	V758A	probably benign	Het
Plod2	G	T	9: 92,598,619	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,253,480	V660A	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Prkd3	G	A	17: 78,959,141		probably benign	Het
Prrc2a	A	G	17: 35,157,932	L734P	probably damaging	Het
Rnf128	C	A	X: 139,664,522	L282I	probably damaging	Het
Rnf213	A	G	11: 119,469,053	N4424S		Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,767,848	S66T	probably benign	Het
Setd3	T	C	12: 108,165,158	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,158,210		probably null	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Spc25	A	G	2: 69,202,601	L60P	probably damaging	Het
Stam	A	C	2: 14,138,961	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,736,277	R254P	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trav7-4	A	G	14: 53,461,662	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,216,140	H361N	probably damaging	Het
Ugt2b1	C	A	5: 86,917,675	V502L	probably benign	Het
Vip	T	A	10: 5,642,590	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,218,697	M1025L	probably benign	Het

Other mutations in Zfp541

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Zfp541	APN	7	16079468	missense	possibly damaging	0.80
IGL02262:Zfp541	APN	7	16079695	missense	probably damaging	1.00
IGL02347:Zfp541	APN	7	16083465	missense	probably damaging	1.00
IGL02516:Zfp541	APN	7	16082993	splice site	probably null
R0101:Zfp541	UTSW	7	16078043	missense	probably damaging	1.00
R0412:Zfp541	UTSW	7	16082174	missense	possibly damaging	0.88
R0627:Zfp541	UTSW	7	16095682	splice site	probably benign
R0784:Zfp541	UTSW	7	16082992	intron	probably benign
R1083:Zfp541	UTSW	7	16078712	missense	probably benign	0.16
R1541:Zfp541	UTSW	7	16078512	missense	probably benign	0.04
R1575:Zfp541	UTSW	7	16078715	missense	possibly damaging	0.94
R1730:Zfp541	UTSW	7	16077973	missense	probably damaging	0.99
R1783:Zfp541	UTSW	7	16077973	missense	probably damaging	0.99
R1966:Zfp541	UTSW	7	16079071	missense	probably benign	0.02
R2022:Zfp541	UTSW	7	16082185	missense	probably damaging	1.00
R2048:Zfp541	UTSW	7	16078327	missense	possibly damaging	0.94
R2436:Zfp541	UTSW	7	16076448	missense	possibly damaging	0.94
R4081:Zfp541	UTSW	7	16072135	missense	probably benign	0.16
R4589:Zfp541	UTSW	7	16083336	missense	probably benign	0.35
R4724:Zfp541	UTSW	7	16081687	missense	probably damaging	0.99
R4812:Zfp541	UTSW	7	16079110	missense	probably benign	0.01
R4817:Zfp541	UTSW	7	16090382	missense	probably damaging	1.00
R5232:Zfp541	UTSW	7	16095179	missense	probably damaging	1.00
R5331:Zfp541	UTSW	7	16095758	missense	probably damaging	1.00
R5551:Zfp541	UTSW	7	16090861	missense	probably damaging	1.00
R5976:Zfp541	UTSW	7	16076419	missense	probably benign	0.34
R6259:Zfp541	UTSW	7	16095526	missense	probably benign	0.02
R6523:Zfp541	UTSW	7	16095520	missense	probably damaging	1.00
R6826:Zfp541	UTSW	7	16078982	missense	probably damaging	0.96
R7319:Zfp541	UTSW	7	16079369	missense	probably benign	0.21
R7428:Zfp541	UTSW	7	16092868	missense	probably damaging	1.00
R7594:Zfp541	UTSW	7	16076386	missense	probably damaging	0.96
R7724:Zfp541	UTSW	7	16071994	missense	probably damaging	1.00
R8276:Zfp541	UTSW	7	16079084	missense	possibly damaging	0.87
R8433:Zfp541	UTSW	7	16072074	missense	probably benign	0.16
R9068:Zfp541	UTSW	7	16078451	missense	probably damaging	0.96
R9086:Zfp541	UTSW	7	16090404	missense	probably damaging	1.00
R9132:Zfp541	UTSW	7	16083041	missense	probably benign	0.45
R9261:Zfp541	UTSW	7	16082104	missense	possibly damaging	0.94
R9408:Zfp541	UTSW	7	16072214	missense	probably damaging	1.00
R9518:Zfp541	UTSW	7	16079111	missense	possibly damaging	0.80
R9621:Zfp541	UTSW	7	16071967	missense	possibly damaging	0.94
Z1088:Zfp541	UTSW	7	16079795	missense	probably benign	0.16
Z1176:Zfp541	UTSW	7	16078266	missense	probably damaging	1.00
Z1177:Zfp541	UTSW	7	16078763	missense	probably damaging	1.00
Z1177:Zfp541	UTSW	7	16079029	missense	probably benign	0.26
Z1177:Zfp541	UTSW	7	16082167	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCAGTGACACACTCAACCG -3'
(R):5'- TAGGATAAAAGCCTCCTCTACAAG -3'

Sequencing Primer
(F):5'- ACACTCAACCGGGACCTGG -3'
(R):5'- AAGTCAGGGTCTTACTATGTAGCTC -3'

Posted On

2015-04-30