Mutagenetix > Incidental Mutation

Incidental Mutation 'R1018:Zfp341'

96549

Institutional Source

Beutler Lab

Gene Symbol

Zfp341

Ensembl Gene

ENSMUSG00000059842

Gene Name

zinc finger protein 341

Synonyms

MMRRC Submission

039122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1018 (G1)

Quality Score

150

Status

Validated

Chromosome

Chromosomal Location

154455217-154488741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 154487972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 812 (N812Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081926] [ENSMUST00000109702] [ENSMUST00000126421]

AlphaFold

Q6PGC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000081926
AA Change: N819Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080596
Gene: ENSMUSG00000059842
AA Change: N819Y

Domain	Start	End	E-Value	Type
ZnF_C2H2	53	73	4.16e1	SMART
low complexity region	96	110	N/A	INTRINSIC
low complexity region	154	161	N/A	INTRINSIC
low complexity region	177	200	N/A	INTRINSIC
ZnF_C2H2	320	342	3.69e-4	SMART
ZnF_C2H2	348	370	1.04e-3	SMART
ZnF_C2H2	442	464	1.45e-2	SMART
ZnF_C2H2	470	494	2.17e-1	SMART
ZnF_C2H2	500	522	2.91e-2	SMART
ZnF_C2H2	537	561	1.23e0	SMART
ZnF_C2H2	563	585	3.58e-2	SMART
ZnF_C2H2	591	613	1.62e0	SMART
ZnF_C2H2	619	641	2.27e-4	SMART
ZnF_C2H2	647	674	7.29e0	SMART
ZnF_C2H2	680	702	5.14e-3	SMART
low complexity region	740	759	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109702
AA Change: N812Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105324
Gene: ENSMUSG00000059842
AA Change: N812Y

Domain	Start	End	E-Value	Type
ZnF_C2H2	53	73	4.16e1	SMART
low complexity region	96	110	N/A	INTRINSIC
low complexity region	154	161	N/A	INTRINSIC
low complexity region	177	200	N/A	INTRINSIC
ZnF_C2H2	313	335	3.69e-4	SMART
ZnF_C2H2	341	363	1.04e-3	SMART
ZnF_C2H2	435	457	1.45e-2	SMART
ZnF_C2H2	463	487	2.17e-1	SMART
ZnF_C2H2	493	515	2.91e-2	SMART
ZnF_C2H2	530	554	1.23e0	SMART
ZnF_C2H2	556	578	3.58e-2	SMART
ZnF_C2H2	584	606	1.62e0	SMART
ZnF_C2H2	612	634	2.27e-4	SMART
ZnF_C2H2	640	667	7.29e0	SMART
ZnF_C2H2	673	695	5.14e-3	SMART
low complexity region	733	752	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126421

Meta Mutation Damage Score

0.4144

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,837,325 (GRCm39)	C403F	probably damaging	Het
Adam20	C	T	8: 41,249,146 (GRCm39)	Q419*	probably null	Het
Ankrd36	C	T	11: 5,596,876 (GRCm39)		probably benign	Het
Arl8b	T	A	6: 108,795,572 (GRCm39)	I170K	probably damaging	Het
Atp5pb	A	T	3: 105,861,488 (GRCm39)	V78E	possibly damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cgnl1	A	G	9: 71,633,340 (GRCm39)	Y4H	probably damaging	Het
Cnn2	T	C	10: 79,829,397 (GRCm39)	C176R	probably damaging	Het
Dst	A	G	1: 34,233,174 (GRCm39)	D3392G	probably damaging	Het
Eed	T	C	7: 89,617,019 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,412,221 (GRCm39)	V870E	possibly damaging	Het
Epx	T	C	11: 87,760,129 (GRCm39)	N495S	probably benign	Het
Fbxw20	T	A	9: 109,050,404 (GRCm39)	Y407F	probably benign	Het
Gbp9	T	A	5: 105,228,126 (GRCm39)	Q552L	probably benign	Het
Hspa13	C	A	16: 75,558,164 (GRCm39)	V134L	possibly damaging	Het
Il16	T	C	7: 83,323,746 (GRCm39)	N268S	probably damaging	Het
Kif14	G	A	1: 136,423,579 (GRCm39)		probably benign	Het
Lrig1	G	A	6: 94,599,583 (GRCm39)		probably benign	Het
Myo7a	T	A	7: 97,756,212 (GRCm39)	D29V	probably damaging	Het
Nsd2	A	G	5: 34,000,585 (GRCm39)	K34R	probably damaging	Het
Or4a15	C	A	2: 89,193,523 (GRCm39)	L83F	possibly damaging	Het
P3h1	C	A	4: 119,095,104 (GRCm39)	T287K	probably damaging	Het
Pkhd1	A	T	1: 20,271,483 (GRCm39)	H3023Q	possibly damaging	Het
Plxna1	A	G	6: 89,319,942 (GRCm39)	L535P	probably damaging	Het
Prom1	A	T	5: 44,187,056 (GRCm39)	S400R	probably benign	Het
Psap	T	G	10: 60,136,590 (GRCm39)	L523R	probably damaging	Het
Psme4	C	T	11: 30,754,310 (GRCm39)	T189I	probably damaging	Het
Ptpn12	A	T	5: 21,234,867 (GRCm39)	S39T	possibly damaging	Het
Qtrt2	T	A	16: 43,698,363 (GRCm39)	H98L	possibly damaging	Het
Rad54l2	C	A	9: 106,589,589 (GRCm39)	C601F	probably benign	Het
Saxo4	A	T	19: 10,456,824 (GRCm39)		probably benign	Het
Sfswap	A	G	5: 129,631,640 (GRCm39)	K756R	possibly damaging	Het
Slc24a5	T	C	2: 124,910,827 (GRCm39)	V86A	probably damaging	Het
Srrm2	T	C	17: 24,041,514 (GRCm39)	S2575P	probably damaging	Het
Stam	T	C	2: 14,122,185 (GRCm39)		probably benign	Het
Tbx6	T	A	7: 126,382,364 (GRCm39)		probably benign	Het
Tmem131	A	C	1: 36,833,900 (GRCm39)	F1727V	probably damaging	Het
Tpr	T	A	1: 150,317,934 (GRCm39)	H2147Q	possibly damaging	Het
Trio	T	A	15: 27,871,257 (GRCm39)	H620L	probably damaging	Het
Uba5	T	C	9: 103,927,102 (GRCm39)	T292A	probably benign	Het
Unc5a	T	A	13: 55,138,765 (GRCm39)	V48E	possibly damaging	Het
Upf1	G	T	8: 70,791,556 (GRCm39)	H514Q	possibly damaging	Het
Usp9y	A	G	Y: 1,341,414 (GRCm39)		probably benign	Het
Vmn2r6	T	A	3: 64,464,261 (GRCm39)	D191V	probably benign	Het
Wapl	T	C	14: 34,413,863 (GRCm39)	Y242H	possibly damaging	Het
Zfp358	C	A	8: 3,546,843 (GRCm39)	S475*	probably null	Het
Zfp957	C	A	14: 79,450,182 (GRCm39)	C539F	probably damaging	Het

Other mutations in Zfp341

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Zfp341	APN	2	154,476,151 (GRCm39)	missense	probably damaging	1.00
IGL01352:Zfp341	APN	2	154,470,816 (GRCm39)	missense	probably benign	0.00
IGL01748:Zfp341	APN	2	154,470,847 (GRCm39)	missense	probably damaging	0.99
IGL02260:Zfp341	APN	2	154,483,969 (GRCm39)	missense	possibly damaging	0.89
IGL02329:Zfp341	APN	2	154,474,224 (GRCm39)	missense	possibly damaging	0.90
casanova_grimbacher	UTSW	2	154,466,801 (GRCm39)	missense	probably damaging	1.00
Specious	UTSW	2	154,488,054 (GRCm39)	missense	possibly damaging	0.63
R0079:Zfp341	UTSW	2	154,466,914 (GRCm39)	nonsense	probably null
R0570:Zfp341	UTSW	2	154,487,988 (GRCm39)	missense	probably benign	0.02
R0620:Zfp341	UTSW	2	154,476,193 (GRCm39)	missense	possibly damaging	0.94
R1611:Zfp341	UTSW	2	154,487,623 (GRCm39)	missense	probably damaging	1.00
R1733:Zfp341	UTSW	2	154,483,298 (GRCm39)	missense	probably benign	0.19
R1822:Zfp341	UTSW	2	154,488,054 (GRCm39)	missense	possibly damaging	0.63
R1956:Zfp341	UTSW	2	154,480,132 (GRCm39)	missense	probably benign	0.09
R2437:Zfp341	UTSW	2	154,470,721 (GRCm39)	missense	probably damaging	0.97
R3623:Zfp341	UTSW	2	154,466,801 (GRCm39)	missense	probably damaging	1.00
R4417:Zfp341	UTSW	2	154,470,907 (GRCm39)	missense	possibly damaging	0.94
R4806:Zfp341	UTSW	2	154,487,786 (GRCm39)	utr 3 prime	probably benign
R4807:Zfp341	UTSW	2	154,487,786 (GRCm39)	utr 3 prime	probably benign
R4863:Zfp341	UTSW	2	154,487,786 (GRCm39)	utr 3 prime	probably benign
R4955:Zfp341	UTSW	2	154,479,950 (GRCm39)	missense	probably damaging	0.98
R4962:Zfp341	UTSW	2	154,468,734 (GRCm39)	missense	possibly damaging	0.80
R5484:Zfp341	UTSW	2	154,466,921 (GRCm39)	missense	probably benign	0.00
R5864:Zfp341	UTSW	2	154,485,474 (GRCm39)	missense	possibly damaging	0.95
R5877:Zfp341	UTSW	2	154,474,209 (GRCm39)	missense	probably damaging	1.00
R5975:Zfp341	UTSW	2	154,472,361 (GRCm39)	missense	probably damaging	1.00
R5990:Zfp341	UTSW	2	154,487,579 (GRCm39)	missense	probably damaging	0.98
R6057:Zfp341	UTSW	2	154,466,954 (GRCm39)	missense	probably benign	0.01
R6882:Zfp341	UTSW	2	154,479,943 (GRCm39)	missense	probably damaging	1.00
R7686:Zfp341	UTSW	2	154,466,781 (GRCm39)	missense	probably damaging	0.96
R7701:Zfp341	UTSW	2	154,476,000 (GRCm39)	splice site	probably null
R7847:Zfp341	UTSW	2	154,476,114 (GRCm39)	missense	probably damaging	1.00
R8109:Zfp341	UTSW	2	154,469,820 (GRCm39)	missense	probably benign	0.04
R9313:Zfp341	UTSW	2	154,469,907 (GRCm39)	missense	probably damaging	1.00
R9484:Zfp341	UTSW	2	154,485,763 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCTTCTCACGACACAAATACCTC -3'
(R):5'- GGGCAAGGCTGATACAGTAACTTCC -3'

Sequencing Primer
(F):5'- TCAAGGATCACCGCTGC -3'
(R):5'- CAGTAACTTCCAAAAGGGATTGTGC -3'

Posted On

2014-01-05