Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Zfp341'

256134

Institutional Source

Beutler Lab

Gene Symbol

Zfp341

Ensembl Gene

ENSMUSG00000059842

Gene Name

zinc finger protein 341

Synonyms

MMRRC Submission

039648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1611 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

154455217-154488741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 154487623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 702 (H702Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080596 (fasta)

Gene Model

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

AlphaFold

Q6PGC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000081926
AA Change: H702Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080596
Gene: ENSMUSG00000059842
AA Change: H702Q

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: H695Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105324
Gene: ENSMUSG00000059842
AA Change: H695Q

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

0.7801

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	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
R1018:Zfp341	UTSW	2	154,487,972 (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'- TTTAGCAGATGACTTCAGGCACGG -3'
(R):5'- AACACAGCGTCCTGCTCAAAGG -3'

Sequencing Primer
(F):5'- CTTCAGGCACGGGAACAG -3'
(R):5'- TCAAAGGGTGGCTTGCCAG -3'

Posted On

2014-12-30