Mutagenetix > Incidental Mutations

Incidental Mutation 'R6259:Zfp541'

506550

Institutional Source

Beutler Lab

Gene Symbol

Zfp541

Ensembl Gene

ENSMUSG00000078796

Gene Name

zinc finger protein 541

Synonyms

EG666528

MMRRC Submission

044376-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R6259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16061814-16096334 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16095526 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1222 (A1222V)

Ref Sequence

ENSEMBL: ENSMUSP00000148143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006181] [ENSMUST00000108509] [ENSMUST00000127637] [ENSMUST00000209369] [ENSMUST00000210805]

Predicted Effect

probably benign
Transcript: ENSMUST00000006181

SMART Domains

Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024

Domain	Start	End	E-Value	Type
Pfam:SNAP	8	288	4.5e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108509
AA Change: A1283V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104149
Gene: ENSMUSG00000078796
AA Change: A1283V

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

noncoding transcript
Transcript: ENSMUST00000124563

Predicted Effect

probably benign
Transcript: ENSMUST00000127637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132828

Predicted Effect

probably benign
Transcript: ENSMUST00000209369
AA Change: A1283V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000210805
AA Change: A1222V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Meta Mutation Damage Score

0.0752

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,877,513	Y96C	probably benign	Het
5730507C01Rik	C	A	12: 18,534,119	N393K	probably benign	Het
Acap3	A	T	4: 155,896,118	I19F	possibly damaging	Het
Adamts5	C	T	16: 85,899,753	R172H	probably benign	Het
Adgra3	A	G	5: 49,999,141	F416L	possibly damaging	Het
Amy1	T	C	3: 113,569,410	D96G	possibly damaging	Het
Ank2	A	G	3: 127,016,986	S484P	probably benign	Het
Arsa	A	G	15: 89,475,521	C68R	probably damaging	Het
Asprv1	A	G	6: 86,628,379	Y69C	probably benign	Het
Ass1	A	G	2: 31,488,642	E162G	possibly damaging	Het
Atf7	G	T	15: 102,547,238	N230K	probably damaging	Het
Atp10b	A	G	11: 43,201,238	M367V	probably benign	Het
Atp11b	A	G	3: 35,806,901	Y179C	probably damaging	Het
BC004004	A	T	17: 29,298,712	Q300L	possibly damaging	Het
Bglap3	A	T	3: 88,368,760	I95N	probably damaging	Het
Cacna1h	T	C	17: 25,397,656		probably null	Het
Caskin2	C	T	11: 115,800,453	G1141D	probably damaging	Het
Clcn4	G	A	7: 7,291,530	R351W	possibly damaging	Het
Col11a1	T	C	3: 114,138,447	C89R	probably benign	Het
Csrp1	T	G	1: 135,739,514		probably null	Het
Cwf19l2	T	C	9: 3,458,879	I776T	probably damaging	Het
Cyp2b19	A	T	7: 26,771,392	Q486L	possibly damaging	Het
Cyp2j9	T	A	4: 96,584,006	Y165F	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dennd1c	G	A	17: 57,067,104	R522C	probably damaging	Het
Dmgdh	T	C	13: 93,752,308	V818A	probably benign	Het
Dst	T	A	1: 34,182,396	V2427E	probably benign	Het
Duox1	C	T	2: 122,344,783	T1354M	probably benign	Het
Ehbp1	A	G	11: 22,285,684		probably benign	Het
Epc2	T	A	2: 49,488,854		probably null	Het
Eya2	T	C	2: 165,716,099	V205A	probably benign	Het
Fam84a	T	A	12: 14,150,645	D27V	probably damaging	Het
Fat4	A	G	3: 39,007,246	H4326R	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Gm10100	G	T	10: 77,726,664	C60F	possibly damaging	Het
Hhip	T	A	8: 79,972,404	R678W	probably damaging	Het
Il21r	T	A	7: 125,630,719	I266K	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kif26b	T	C	1: 178,917,405	S1689P	probably damaging	Het
L3mbtl2	A	G	15: 81,681,927	E317G	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrr1	A	G	12: 69,174,815	N244D	probably damaging	Het
Lrrk2	A	T	15: 91,702,247	H422L	probably benign	Het
Map4k5	A	G	12: 69,852,740	S46P	probably damaging	Het
Ngf	A	G	3: 102,509,797		probably benign	Het
Nploc4	T	C	11: 120,385,865	I452V	probably benign	Het
Oas1d	T	A	5: 120,919,181	Y283*	probably null	Het
Olfr1156	T	C	2: 87,949,435	N266S	probably benign	Het
Olfr1463	A	G	19: 13,234,421	H57R	probably damaging	Het
Olfr648	A	T	7: 104,180,054	M118K	possibly damaging	Het
Olfr689	A	T	7: 105,314,057	I18F	probably benign	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Peg3	A	G	7: 6,709,811	V804A	probably damaging	Het
Piezo2	T	A	18: 63,117,678	Y450F	possibly damaging	Het
Pprc1	T	A	19: 46,064,410	V789E	probably damaging	Het
Prcc	A	G	3: 87,862,147	M436T	possibly damaging	Het
Prepl	A	T	17: 85,070,431	V507D	probably damaging	Het
Rag1	T	A	2: 101,644,452	N115I	possibly damaging	Het
Rap1gap	T	C	4: 137,681,757		probably null	Het
Reln	A	C	5: 22,060,333	F454V	probably damaging	Het
Slc39a11	A	T	11: 113,463,954	S150T	probably benign	Het
Slc45a1	T	A	4: 150,638,360	I356F	possibly damaging	Het
Snrnp200	G	A	2: 127,218,423	G529D	possibly damaging	Het
Stkld1	A	T	2: 26,949,381	D353V	possibly damaging	Het
Susd2	T	C	10: 75,638,046	S572G	probably damaging	Het
Synrg	T	A	11: 84,008,658	D563E	probably damaging	Het
Tmem131	C	T	1: 36,819,128	V713I	probably benign	Het
Tnfrsf8	A	G	4: 145,277,524		probably null	Het
Trim26	C	T	17: 36,856,218	A267V	probably benign	Het
Trpm1	T	G	7: 64,268,478	F522C	possibly damaging	Het
Uggt1	T	C	1: 36,234,916	I29V	probably benign	Het
Unc5d	C	T	8: 28,666,792	M808I	probably benign	Het
Vmn2r108	T	A	17: 20,463,109	D611V	possibly damaging	Het
Vps13a	A	C	19: 16,687,170	Y1436*	probably null	Het
Wdfy3	C	T	5: 101,872,965	R2491Q	possibly damaging	Het
Zfp518a	G	T	19: 40,912,781	V385F	probably benign	Het
Zfp709	TCGACG	TCG	8: 71,890,708		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
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
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
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'- AGGTTTCCCTGAAGAAGACATG -3'
(R):5'- TAACGGGTTCCACATGCTCC -3'

Sequencing Primer
(F):5'- TTTCCCTGAAGAAGACATGGTCCC -3'
(R):5'- TGATCTTGTCGAACACCCTGAGG -3'

Posted On

2018-03-15