Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Zfp541'

171092

Institutional Source

Beutler Lab

Gene Symbol

Zfp541

Ensembl Gene

ENSMUSG00000078796

Gene Name

zinc finger protein 541

Synonyms

EG666528

MMRRC Submission

039613-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.750) question?

Stock #

R1575 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

15795739-15830259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15812640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 431 (V431A)

Ref Sequence

ENSEMBL: ENSMUSP00000148143 (fasta)

Gene Model

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

AlphaFold

Q0GGX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108509
AA Change: V431A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104149
Gene: ENSMUSG00000078796
AA Change: V431A

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

possibly damaging
Transcript: ENSMUST00000209369
AA Change: V431A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210805
AA Change: V431A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,558,398 (GRCm39)	T437S	probably benign	Het
Akna	A	G	4: 63,297,570 (GRCm39)	F828S	probably benign	Het
Alg9	G	T	9: 50,686,802 (GRCm39)	A40S	possibly damaging	Het
Alox8	T	A	11: 69,076,067 (GRCm39)	H628L	possibly damaging	Het
Aox3	T	C	1: 58,191,713 (GRCm39)	W422R	probably benign	Het
Atp13a4	T	C	16: 29,228,528 (GRCm39)	D984G	probably benign	Het
Bcam	T	C	7: 19,494,307 (GRCm39)	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,217 (GRCm39)	V519F	probably damaging	Het
Calca	A	G	7: 114,234,396 (GRCm39)	Y18H	probably damaging	Het
Cd70	A	G	17: 57,453,364 (GRCm39)	I100T	probably damaging	Het
Cdk4	T	A	10: 126,900,520 (GRCm39)	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,753,410 (GRCm39)	N11K	probably damaging	Het
Cma2	T	A	14: 56,210,272 (GRCm39)	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dicer1	A	G	12: 104,688,228 (GRCm39)		probably null	Het
Dnajc13	A	G	9: 104,034,037 (GRCm39)	S2206P	probably benign	Het
Dtl	T	C	1: 191,293,658 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,184,852 (GRCm39)	T24A	probably benign	Het
Fbxw21	A	G	9: 108,990,984 (GRCm39)	V25A	probably benign	Het
Gins1	T	C	2: 150,754,758 (GRCm39)	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,476,869 (GRCm39)	V349D	probably damaging	Het
Hyal5	G	T	6: 24,876,792 (GRCm39)	D222Y	probably damaging	Het
Itgal	A	G	7: 126,900,060 (GRCm39)		probably null	Het
Klk14	A	G	7: 43,343,377 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,117,404 (GRCm39)	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,808,555 (GRCm39)	G264D	probably benign	Het
Ltbp4	A	G	7: 27,022,245 (GRCm39)	S893P	probably damaging	Het
Mast4	G	A	13: 102,875,771 (GRCm39)	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,408,490 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Ncan	G	A	8: 70,562,848 (GRCm39)	T470I	probably benign	Het
Npy1r	A	T	8: 67,156,813 (GRCm39)	I78F	probably damaging	Het
Or10q1b	A	T	19: 13,682,889 (GRCm39)	M233L	probably benign	Het
Or8b52	G	A	9: 38,576,573 (GRCm39)	T189M	probably damaging	Het
Palb2	A	T	7: 121,710,061 (GRCm39)		probably null	Het
Pax3	T	C	1: 78,080,121 (GRCm39)	T422A	probably benign	Het
Pebp1	A	T	5: 117,424,229 (GRCm39)	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,728,901 (GRCm39)	T363S	probably benign	Het
Rbm44	G	A	1: 91,084,565 (GRCm39)		probably null	Het
Rbm47	T	A	5: 66,182,358 (GRCm39)	Y425F	probably benign	Het
Robo3	G	T	9: 37,340,957 (GRCm39)	A83E	probably damaging	Het
Rrm1	A	G	7: 102,105,721 (GRCm39)	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,256,121 (GRCm39)		probably benign	Het
Scara5	C	A	14: 65,968,314 (GRCm39)	Q196K	probably benign	Het
Setd1b	C	T	5: 123,301,210 (GRCm39)		probably benign	Het
Siah1a	A	G	8: 87,451,869 (GRCm39)	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Ssu72	A	G	4: 155,815,814 (GRCm39)	D86G	probably benign	Het
St7	G	T	6: 17,886,110 (GRCm39)	K357N	probably damaging	Het
Sv2b	G	A	7: 74,797,425 (GRCm39)	T323I	probably damaging	Het
Syt1	T	C	10: 108,340,361 (GRCm39)	N319S	probably benign	Het
Tanc1	T	A	2: 59,621,995 (GRCm39)	F371L	probably damaging	Het
Tcf20	C	A	15: 82,739,693 (GRCm39)	G586V	probably benign	Het
Tg	T	C	15: 66,601,534 (GRCm39)		probably null	Het
Tyk2	A	T	9: 21,026,758 (GRCm39)	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116 (GRCm39)	S130T	probably benign	Het
Ubr2	G	T	17: 47,243,418 (GRCm39)	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,041,085 (GRCm39)	D266E	probably damaging	Het
Vipr2	A	G	12: 116,107,892 (GRCm39)	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,262,477 (GRCm39)	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vwf	A	G	6: 125,632,214 (GRCm39)	E82G	unknown	Het
Vwf	T	A	6: 125,640,534 (GRCm39)	Y2323*	probably null	Het
Wdr76	T	G	2: 121,359,402 (GRCm39)	V329G	probably damaging	Het
Zan	A	G	5: 137,460,214 (GRCm39)	C1226R	unknown	Het
Zbtb16	G	T	9: 48,743,572 (GRCm39)	Q247K	probably damaging	Het

Other mutations in Zfp541

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Zfp541	APN	7	15,813,393 (GRCm39)	missense	possibly damaging	0.80
IGL02262:Zfp541	APN	7	15,813,620 (GRCm39)	missense	probably damaging	1.00
IGL02347:Zfp541	APN	7	15,817,390 (GRCm39)	missense	probably damaging	1.00
IGL02516:Zfp541	APN	7	15,816,918 (GRCm39)	splice site	probably null
R0101:Zfp541	UTSW	7	15,811,968 (GRCm39)	missense	probably damaging	1.00
R0412:Zfp541	UTSW	7	15,816,099 (GRCm39)	missense	possibly damaging	0.88
R0627:Zfp541	UTSW	7	15,829,607 (GRCm39)	splice site	probably benign
R0784:Zfp541	UTSW	7	15,816,917 (GRCm39)	intron	probably benign
R1083:Zfp541	UTSW	7	15,812,637 (GRCm39)	missense	probably benign	0.16
R1541:Zfp541	UTSW	7	15,812,437 (GRCm39)	missense	probably benign	0.04
R1730:Zfp541	UTSW	7	15,811,898 (GRCm39)	missense	probably damaging	0.99
R1783:Zfp541	UTSW	7	15,811,898 (GRCm39)	missense	probably damaging	0.99
R1966:Zfp541	UTSW	7	15,812,996 (GRCm39)	missense	probably benign	0.02
R2022:Zfp541	UTSW	7	15,816,110 (GRCm39)	missense	probably damaging	1.00
R2048:Zfp541	UTSW	7	15,812,252 (GRCm39)	missense	possibly damaging	0.94
R2436:Zfp541	UTSW	7	15,810,373 (GRCm39)	missense	possibly damaging	0.94
R3973:Zfp541	UTSW	7	15,806,147 (GRCm39)	missense	probably damaging	1.00
R4081:Zfp541	UTSW	7	15,806,060 (GRCm39)	missense	probably benign	0.16
R4589:Zfp541	UTSW	7	15,817,261 (GRCm39)	missense	probably benign	0.35
R4724:Zfp541	UTSW	7	15,815,612 (GRCm39)	missense	probably damaging	0.99
R4812:Zfp541	UTSW	7	15,813,035 (GRCm39)	missense	probably benign	0.01
R4817:Zfp541	UTSW	7	15,824,307 (GRCm39)	missense	probably damaging	1.00
R5232:Zfp541	UTSW	7	15,829,104 (GRCm39)	missense	probably damaging	1.00
R5331:Zfp541	UTSW	7	15,829,683 (GRCm39)	missense	probably damaging	1.00
R5551:Zfp541	UTSW	7	15,824,786 (GRCm39)	missense	probably damaging	1.00
R5976:Zfp541	UTSW	7	15,810,344 (GRCm39)	missense	probably benign	0.34
R6259:Zfp541	UTSW	7	15,829,451 (GRCm39)	missense	probably benign	0.02
R6523:Zfp541	UTSW	7	15,829,445 (GRCm39)	missense	probably damaging	1.00
R6826:Zfp541	UTSW	7	15,812,907 (GRCm39)	missense	probably damaging	0.96
R7319:Zfp541	UTSW	7	15,813,294 (GRCm39)	missense	probably benign	0.21
R7428:Zfp541	UTSW	7	15,826,793 (GRCm39)	missense	probably damaging	1.00
R7594:Zfp541	UTSW	7	15,810,311 (GRCm39)	missense	probably damaging	0.96
R7724:Zfp541	UTSW	7	15,805,919 (GRCm39)	missense	probably damaging	1.00
R8276:Zfp541	UTSW	7	15,813,009 (GRCm39)	missense	possibly damaging	0.87
R8433:Zfp541	UTSW	7	15,805,999 (GRCm39)	missense	probably benign	0.16
R9068:Zfp541	UTSW	7	15,812,376 (GRCm39)	missense	probably damaging	0.96
R9086:Zfp541	UTSW	7	15,824,329 (GRCm39)	missense	probably damaging	1.00
R9132:Zfp541	UTSW	7	15,816,966 (GRCm39)	missense	probably benign	0.45
R9261:Zfp541	UTSW	7	15,816,029 (GRCm39)	missense	possibly damaging	0.94
R9408:Zfp541	UTSW	7	15,806,139 (GRCm39)	missense	probably damaging	1.00
R9518:Zfp541	UTSW	7	15,813,036 (GRCm39)	missense	possibly damaging	0.80
R9621:Zfp541	UTSW	7	15,805,892 (GRCm39)	missense	possibly damaging	0.94
Z1088:Zfp541	UTSW	7	15,813,720 (GRCm39)	missense	probably benign	0.16
Z1176:Zfp541	UTSW	7	15,812,191 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp541	UTSW	7	15,816,092 (GRCm39)	missense	probably damaging	0.98
Z1177:Zfp541	UTSW	7	15,812,954 (GRCm39)	missense	probably benign	0.26
Z1177:Zfp541	UTSW	7	15,812,688 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGAGTCTCCACGGCTTCAAC -3'
(R):5'- GGACTTGGCAATCATCTGGAGCAC -3'

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

Posted On

2014-04-13