Mutagenetix > Incidental Mutations

Incidental Mutation 'R1083:Zfp541'

84921

Institutional Source

Beutler Lab

Gene Symbol

Zfp541

Ensembl Gene

ENSMUSG00000078796

Gene Name

zinc finger protein 541

Synonyms

EG666528

MMRRC Submission

039169-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R1083 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

16061814-16096334 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16078712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 430 (N430S)

Ref Sequence

ENSEMBL: ENSMUSP00000148143 (fasta)

Gene Model

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

AlphaFold

Q0GGX2

Predicted Effect

probably benign
Transcript: ENSMUST00000108509
AA Change: N430S

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104149
Gene: ENSMUSG00000078796
AA Change: N430S

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 benign
Transcript: ENSMUST00000209369
AA Change: N430S

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000210805
AA Change: N430S

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.0%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	C	6: 92,828,065		probably benign	Het
Adamts17	G	A	7: 67,147,574	C986Y	probably damaging	Het
AI987944	A	G	7: 41,375,339	V75A	probably benign	Het
Arhgap10	T	C	8: 77,517,749	Y12C	probably damaging	Het
Atp11b	G	A	3: 35,778,013		probably benign	Het
Ccer1	T	A	10: 97,694,658	D394E	possibly damaging	Het
Cdh2	T	C	18: 16,643,959	N273S	possibly damaging	Het
Cfap65	G	T	1: 74,918,504		probably benign	Het
Crybb3	A	T	5: 113,080,578		probably benign	Het
D7Ertd443e	G	A	7: 134,348,934	Q337*	probably null	Het
Dixdc1	C	T	9: 50,676,993		probably benign	Het
Dut	GCGGC	GCGGCCGGC	2: 125,247,828		probably null	Het
Fbxo2	A	G	4: 148,165,777		probably null	Het
Gm5174	T	C	10: 86,656,108		noncoding transcript	Het
Gpam	A	G	19: 55,088,211		probably benign	Het
Il12a	C	T	3: 68,695,333	T112M	probably damaging	Het
Itpr1	T	A	6: 108,510,696	V2361D	possibly damaging	Het
Jag1	G	A	2: 137,096,232	L283F	probably damaging	Het
Lamb2	A	C	9: 108,483,693	D538A	probably benign	Het
Map10	T	A	8: 125,670,439	C190*	probably null	Het
Pcnx2	C	T	8: 125,772,104	R1552H	probably damaging	Het
Phf1	T	C	17: 26,937,270		probably benign	Het
Pitx2	A	G	3: 129,218,769	T276A	probably damaging	Het
Pparg	A	G	6: 115,490,146	D490G	probably damaging	Het
Rnf10	A	T	5: 115,260,104		probably benign	Het
Sbp	T	C	17: 23,942,730		probably benign	Het
Setbp1	A	T	18: 78,857,626	L942H	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Sfmbt1	A	T	14: 30,787,541	N326Y	possibly damaging	Het
Slx4	G	A	16: 3,990,910	Q389*	probably null	Het
Srrm3	T	A	5: 135,854,409	V206E	probably damaging	Het
Sspo	T	A	6: 48,470,999	D2270E	possibly damaging	Het
Sulf1	AAGGGA	AAGGGAGGGA	1: 12,836,164		probably null	Het
Vmn1r14	T	A	6: 57,234,199	I210N	probably damaging	Het
Wasf3	T	G	5: 146,435,372	L13R	probably damaging	Het
Yes1	T	C	5: 32,651,757		probably null	Het
Zfp292	T	C	4: 34,807,569	D1830G	probably damaging	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
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
R3973:Zfp541	UTSW	7	16072222	missense	probably damaging	1.00
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
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'- AGTCAGAGTCTCCACGGCTTCAAC -3'
(R):5'- GGACTTGGCAATCATCTGGAGCAC -3'

Sequencing Primer
(F):5'- CGGCTTCAACGGCCATC -3'
(R):5'- GGCTTACTAGAGACTCCTGTGAC -3'

Posted On

2013-11-18