Mutagenetix > Incidental Mutation

Incidental Mutation 'R9383:Zfp345'

710134

Institutional Source

Beutler Lab

Gene Symbol

Zfp345

Ensembl Gene

ENSMUSG00000074731

Gene Name

zinc finger protein 345

Synonyms

OTTMUSG00000015743

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R9383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150312911-150326983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 150314503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 345 (H345Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109914]

AlphaFold

A2AQA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109914
AA Change: H345Y

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105540
Gene: ENSMUSG00000074731
AA Change: H345Y

Domain	Start	End	E-Value	Type
KRAB	4	66	9.5e-20	SMART
ZnF_C2H2	103	125	2e-2	SMART
ZnF_C2H2	131	153	2.9e-6	SMART
ZnF_C2H2	159	181	4.1e-3	SMART
ZnF_C2H2	215	237	2.6e-7	SMART
ZnF_C2H2	243	265	1.6e-5	SMART
ZnF_C2H2	271	293	4e-7	SMART
ZnF_C2H2	299	321	1.1e-5	SMART
ZnF_C2H2	327	349	5.9e-7	SMART
ZnF_C2H2	365	387	4.4e-7	SMART
ZnF_C2H2	393	415	7.3e-6	SMART
ZnF_C2H2	421	443	2.7e-5	SMART
ZnF_C2H2	449	471	1.5e-4	SMART
ZnF_C2H2	477	499	1.3e-5	SMART
ZnF_C2H2	505	527	5.1e-6	SMART
ZnF_C2H2	533	555	9.2e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 95,661,162 (GRCm39)	E124G		Het
Atp1a2	T	C	1: 172,107,334 (GRCm39)	I729V	probably benign	Het
Ccn2	T	G	10: 24,471,883 (GRCm39)	V58G	possibly damaging	Het
Chd2	T	A	7: 73,098,918 (GRCm39)	E1467V	probably null	Het
Col6a5	T	C	9: 105,803,110 (GRCm39)	D1285G	unknown	Het
Coro7	A	G	16: 4,452,888 (GRCm39)	C287R	probably damaging	Het
Cpa3	T	C	3: 20,283,045 (GRCm39)	E134G	probably benign	Het
Csf3r	C	T	4: 125,937,239 (GRCm39)	P708S	possibly damaging	Het
Defb30	T	C	14: 63,273,463 (GRCm39)	E49G	probably benign	Het
Dnah3	A	T	7: 119,646,819 (GRCm39)	I1070K	probably benign	Het
Dnm2	G	A	9: 21,383,920 (GRCm39)	V234M	probably damaging	Het
Drg2	T	A	11: 60,350,287 (GRCm39)	M82K	probably benign	Het
Dus2	G	A	8: 106,776,950 (GRCm39)	E312K	probably benign	Het
Efcab6	T	C	15: 83,756,620 (GRCm39)	E1240G	possibly damaging	Het
Ep400	T	C	5: 110,833,351 (GRCm39)	E1957G	unknown	Het
Gpnmb	A	G	6: 49,028,918 (GRCm39)	S479G	probably damaging	Het
Gpr153	T	C	4: 152,367,516 (GRCm39)	S456P	probably benign	Het
Gprc5b	A	T	7: 118,575,761 (GRCm39)	M388K	probably damaging	Het
H2-T23	T	C	17: 36,343,227 (GRCm39)	D50G	possibly damaging	Het
Hipk1	T	C	3: 103,684,883 (GRCm39)	E244G	probably damaging	Het
Malrd1	T	A	2: 15,700,012 (GRCm39)	C620S	unknown	Het
Maz	G	A	7: 126,624,083 (GRCm39)	Q358*	probably null	Het
Mcc	A	T	18: 44,575,985 (GRCm39)	I901N	probably benign	Het
Megf11	T	G	9: 64,545,732 (GRCm39)	C172G	probably damaging	Het
Mipol1	A	G	12: 57,352,820 (GRCm39)	Y53C	probably benign	Het
Nectin4	C	T	1: 171,213,251 (GRCm39)	T391I	probably damaging	Het
Nell2	A	T	15: 95,282,957 (GRCm39)	Y362N	possibly damaging	Het
Nphp4	T	C	4: 152,628,918 (GRCm39)		probably null	Het
Nsun4	A	G	4: 115,891,473 (GRCm39)	V302A	probably benign	Het
Odf2	T	A	2: 29,791,249 (GRCm39)	L181H	probably damaging	Het
Opn1sw	A	G	6: 29,378,000 (GRCm39)	S328P	possibly damaging	Het
Or8k30	T	C	2: 86,338,854 (GRCm39)	I17T	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Pik3c2g	T	A	6: 139,827,742 (GRCm39)	Y712*	probably null	Het
Pkd1	C	T	17: 24,794,900 (GRCm39)	R2196C	probably damaging	Het
Pkd1l3	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	8: 110,350,601 (GRCm39)		probably benign	Het
Plekhm2	A	T	4: 141,359,612 (GRCm39)	M385K	probably damaging	Het
Pole	T	C	5: 110,438,892 (GRCm39)	V164A	possibly damaging	Het
Prr19	T	A	7: 25,002,335 (GRCm39)	F11Y	probably damaging	Het
Prtg	G	T	9: 72,757,143 (GRCm39)	L355F	probably benign	Het
Raph1	C	A	1: 60,564,829 (GRCm39)	M219I	unknown	Het
Rtkn2	A	G	10: 67,839,094 (GRCm39)	D140G	possibly damaging	Het
Serpina5	T	C	12: 104,070,131 (GRCm39)	S343P	probably damaging	Het
Slc1a1	A	G	19: 28,889,125 (GRCm39)	K466R	probably benign	Het
Slc43a1	G	A	2: 84,690,506 (GRCm39)	V518M	probably damaging	Het
Slc47a2	A	G	11: 61,227,749 (GRCm39)	L125P	probably damaging	Het
Slc4a7	C	A	14: 14,766,803 (GRCm38)	C585*	probably null	Het
Snx19	A	G	9: 30,347,196 (GRCm39)	E713G	probably damaging	Het
Tiam1	C	T	16: 89,655,561 (GRCm39)	V715M	probably damaging	Het
Tln2	T	A	9: 67,278,043 (GRCm39)	M322L	probably benign	Het
Top2a	G	A	11: 98,901,884 (GRCm39)	R449*	probably null	Het
Trpv4	C	A	5: 114,796,474 (GRCm39)		probably benign	Het
Vmn1r214	A	C	13: 23,219,095 (GRCm39)	R196S	probably benign	Het
Vmn1r43	A	T	6: 89,846,552 (GRCm39)	H311Q	possibly damaging	Het
Vmn1r54	A	G	6: 90,247,009 (GRCm39)	T308A	probably benign	Het
Zfand3	T	A	17: 30,354,479 (GRCm39)	Y99N	probably benign	Het
Zfp119b	T	C	17: 56,246,355 (GRCm39)	Y277C	probably damaging	Het
Zyg11a	T	C	4: 108,046,926 (GRCm39)	E516G	probably damaging	Het

Other mutations in Zfp345

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Zfp345	APN	2	150,314,649 (GRCm39)	missense	probably damaging	1.00
IGL00846:Zfp345	APN	2	150,314,538 (GRCm39)	missense	possibly damaging	0.76
IGL01020:Zfp345	APN	2	150,314,967 (GRCm39)	missense	possibly damaging	0.68
IGL01931:Zfp345	APN	2	150,315,270 (GRCm39)	missense	probably benign	0.38
IGL02237:Zfp345	APN	2	150,316,805 (GRCm39)	splice site	probably benign
IGL02335:Zfp345	APN	2	150,316,463 (GRCm39)	missense	possibly damaging	0.92
IGL02592:Zfp345	APN	2	150,315,229 (GRCm39)	missense	probably benign	0.36
IGL02736:Zfp345	APN	2	150,316,474 (GRCm39)	missense	probably damaging	0.99
R0095:Zfp345	UTSW	2	150,314,220 (GRCm39)	missense	probably damaging	1.00
R0096:Zfp345	UTSW	2	150,314,220 (GRCm39)	missense	probably damaging	1.00
R0143:Zfp345	UTSW	2	150,314,475 (GRCm39)	missense	probably benign
R0371:Zfp345	UTSW	2	150,313,983 (GRCm39)	missense	possibly damaging	0.81
R0412:Zfp345	UTSW	2	150,315,323 (GRCm39)	missense	probably benign	0.00
R0415:Zfp345	UTSW	2	150,316,479 (GRCm39)	splice site	probably benign
R0420:Zfp345	UTSW	2	150,315,163 (GRCm39)	missense	possibly damaging	0.74
R0697:Zfp345	UTSW	2	150,314,829 (GRCm39)	missense	probably benign	0.13
R0799:Zfp345	UTSW	2	150,314,271 (GRCm39)	missense	probably benign	0.27
R1881:Zfp345	UTSW	2	150,314,275 (GRCm39)	missense	probably damaging	1.00
R1954:Zfp345	UTSW	2	150,316,741 (GRCm39)	missense	probably damaging	1.00
R2004:Zfp345	UTSW	2	150,314,038 (GRCm39)	missense	possibly damaging	0.90
R2152:Zfp345	UTSW	2	150,314,578 (GRCm39)	missense	probably benign	0.00
R2153:Zfp345	UTSW	2	150,314,578 (GRCm39)	missense	probably benign	0.00
R3051:Zfp345	UTSW	2	150,316,772 (GRCm39)	missense	probably benign	0.07
R3880:Zfp345	UTSW	2	150,314,075 (GRCm39)	missense	possibly damaging	0.91
R3939:Zfp345	UTSW	2	150,314,473 (GRCm39)	missense	probably damaging	1.00
R4801:Zfp345	UTSW	2	150,315,228 (GRCm39)	missense	possibly damaging	0.91
R4802:Zfp345	UTSW	2	150,315,228 (GRCm39)	missense	possibly damaging	0.91
R4897:Zfp345	UTSW	2	150,314,608 (GRCm39)	missense	probably benign	0.05
R5606:Zfp345	UTSW	2	150,316,788 (GRCm39)	nonsense	probably null
R6009:Zfp345	UTSW	2	150,314,437 (GRCm39)	missense	probably damaging	1.00
R6191:Zfp345	UTSW	2	150,315,010 (GRCm39)	missense	probably benign	0.11
R6194:Zfp345	UTSW	2	150,314,551 (GRCm39)	missense	probably damaging	1.00
R6782:Zfp345	UTSW	2	150,315,274 (GRCm39)	missense	probably damaging	0.97
R6932:Zfp345	UTSW	2	150,315,331 (GRCm39)	missense	probably damaging	0.99
R7356:Zfp345	UTSW	2	150,314,209 (GRCm39)	missense	probably damaging	1.00
R7980:Zfp345	UTSW	2	150,314,723 (GRCm39)	nonsense	probably null
R8387:Zfp345	UTSW	2	150,314,740 (GRCm39)	missense	probably damaging	0.96
R8515:Zfp345	UTSW	2	150,314,348 (GRCm39)	missense	probably benign	0.01
R8940:Zfp345	UTSW	2	150,314,277 (GRCm39)	missense	probably benign	0.40
R9038:Zfp345	UTSW	2	150,313,864 (GRCm39)	missense	probably benign	0.02
R9480:Zfp345	UTSW	2	150,315,212 (GRCm39)	nonsense	probably null
R9723:Zfp345	UTSW	2	150,314,189 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGAATTGGGACATGCAAAATCTTTA -3'
(R):5'- GACATGCTGGAGAGACACCCT -3'

Sequencing Primer
(F):5'- TGCAAAATCTTTACCACACTGG -3'
(R):5'- CTGGAGAGACACCCTTTGAATGTAAC -3'

Posted On

2022-04-18