Mutagenetix > Incidental Mutation

Incidental Mutation 'R6262:Zfp326'

506750

Institutional Source

Beutler Lab

Gene Symbol

Zfp326

Ensembl Gene

ENSMUSG00000029290

Gene Name

zinc finger protein 326

Synonyms

5730470H14Rik, ZAN75

MMRRC Submission

045016-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

R6262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106024431-106063684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106036353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 88 (L88Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031227] [ENSMUST00000138615] [ENSMUST00000150440]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031227
AA Change: L88Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031227
Gene: ENSMUSG00000029290
AA Change: L88Q

Domain	Start	End	E-Value	Type
internal_repeat_1	19	39	1.09e-7	PROSPERO
internal_repeat_1	31	58	1.09e-7	PROSPERO
low complexity region	63	69	N/A	INTRINSIC
low complexity region	154	162	N/A	INTRINSIC
low complexity region	194	205	N/A	INTRINSIC
coiled coil region	277	304	N/A	INTRINSIC
ZnF_C2H2	312	336	4.12e0	SMART
ZnF_C2H2	405	430	1.78e2	SMART
low complexity region	483	561	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136558

Predicted Effect

probably benign
Transcript: ENSMUST00000138615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150109

Predicted Effect

probably benign
Transcript: ENSMUST00000150440

SMART Domains

Protein: ENSMUSP00000118976
Gene: ENSMUSG00000029290

Domain	Start	End	E-Value	Type
internal_repeat_1	19	39	2.38e-7	PROSPERO
internal_repeat_1	31	58	2.38e-7	PROSPERO
low complexity region	63	73	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
coiled coil region	188	215	N/A	INTRINSIC
ZnF_C2H2	223	247	4.12e0	SMART
ZnF_C2H2	316	341	1.78e2	SMART
low complexity region	389	415	N/A	INTRINSIC

Meta Mutation Damage Score

0.1136

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,092,917 (GRCm39)	T289I	probably benign	Het
Abca2	T	C	2: 25,334,922 (GRCm39)	Y1965H	possibly damaging	Het
Adam26a	T	C	8: 44,022,125 (GRCm39)	N455S	possibly damaging	Het
Art5	C	T	7: 101,747,338 (GRCm39)	G147D	probably benign	Het
Atp5f1a	G	A	18: 77,868,912 (GRCm39)	V429M	probably damaging	Het
Calr4	A	T	4: 109,108,564 (GRCm39)	N213I	probably damaging	Het
Cchcr1	T	C	17: 35,841,413 (GRCm39)	S810P	probably benign	Het
Cdh4	A	T	2: 179,439,419 (GRCm39)	R189W	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,606 (GRCm39)	D84G	probably benign	Het
Clasp2	T	A	9: 113,705,420 (GRCm39)		probably null	Het
Cntnap2	T	A	6: 45,037,046 (GRCm39)		probably null	Het
Cntnap4	T	C	8: 113,529,843 (GRCm39)	Y684H	probably damaging	Het
Cyp2a4	T	A	7: 26,011,655 (GRCm39)	V292E	probably damaging	Het
Dap	A	G	15: 31,235,960 (GRCm39)	T10A	probably benign	Het
Dnah11	G	A	12: 117,894,913 (GRCm39)	R3645C	probably damaging	Het
Dnah9	A	T	11: 65,772,631 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,784,579 (GRCm39)	M2787K	probably benign	Het
Efr3a	T	C	15: 65,729,323 (GRCm39)	S675P	possibly damaging	Het
Gria1	A	G	11: 57,133,680 (GRCm39)	K451E	probably damaging	Het
Grin3b	A	T	10: 79,810,203 (GRCm39)	M570L	probably benign	Het
Hs2st1	A	G	3: 144,140,374 (GRCm39)	F316L	probably damaging	Het
Hs6st3	A	G	14: 119,376,403 (GRCm39)	T193A	possibly damaging	Het
Hspg2	A	T	4: 137,246,997 (GRCm39)	D1108V	probably damaging	Het
Igf1r	T	A	7: 67,653,720 (GRCm39)	L86Q	probably damaging	Het
Inpp5j	A	G	11: 3,452,615 (GRCm39)	S212P	probably benign	Het
Junb	A	G	8: 85,704,359 (GRCm39)	S234P	possibly damaging	Het
Lhx3	GTGTTGT	GTGT	2: 26,092,435 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,366,983 (GRCm39)	S1028P	possibly damaging	Het
Met	C	A	6: 17,553,403 (GRCm39)	A1063E	probably benign	Het
Mink1	T	C	11: 70,494,151 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,552 (GRCm39)	E1621G	possibly damaging	Het
Mug2	T	C	6: 122,052,214 (GRCm39)	Y991H	probably damaging	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nkx6-3	T	C	8: 23,643,863 (GRCm39)	V88A	probably benign	Het
Nr3c2	A	G	8: 77,635,262 (GRCm39)	Q121R	possibly damaging	Het
Nup155	T	C	15: 8,186,225 (GRCm39)	V1329A	probably benign	Het
Or2d36	T	C	7: 106,746,918 (GRCm39)	Y132H	probably damaging	Het
Or5d35	T	C	2: 87,855,738 (GRCm39)	V224A	probably benign	Het
Pcdhb17	T	A	18: 37,619,751 (GRCm39)	F514I	probably damaging	Het
Pfkl	A	G	10: 77,824,507 (GRCm39)		probably null	Het
Prl8a1	A	T	13: 27,758,126 (GRCm39)	H194Q	possibly damaging	Het
Sh3tc1	C	G	5: 35,857,117 (GRCm39)	E1241Q	probably damaging	Het
Slc6a6	A	T	6: 91,732,013 (GRCm39)	H614L	possibly damaging	Het
Sort1	A	G	3: 108,217,527 (GRCm39)	Y143C	probably damaging	Het
Stat4	T	A	1: 52,141,360 (GRCm39)	W569R	probably null	Het
Taco1	A	T	11: 105,962,693 (GRCm39)	K127*	probably null	Het
Tas2r110	T	C	6: 132,845,638 (GRCm39)	I223T	probably damaging	Het
Tex21	A	G	12: 76,259,306 (GRCm39)	I329T	probably damaging	Het
Tmprss11b	T	C	5: 86,810,119 (GRCm39)	H287R	probably benign	Het
Trim30a	A	G	7: 104,060,741 (GRCm39)	L345P	probably benign	Het
Vmn1r62	G	A	7: 5,678,556 (GRCm39)	C79Y	probably damaging	Het
Vmn2r116	A	G	17: 23,606,351 (GRCm39)	K421R	probably benign	Het
Vwde	C	T	6: 13,205,020 (GRCm39)	S287N	probably damaging	Het
Xrcc4	A	T	13: 89,926,906 (GRCm39)	M300K	probably benign	Het
Zan	A	T	5: 137,427,747 (GRCm39)		probably null	Het
Zbtb7c	A	G	18: 76,270,413 (GRCm39)	D167G	probably benign	Het
Zfc3h1	A	G	10: 115,249,881 (GRCm39)	Y1165C	probably damaging	Het
Zfp667	A	G	7: 6,307,973 (GRCm39)	T214A	probably benign	Het

Other mutations in Zfp326

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Zfp326	APN	5	106,054,911 (GRCm39)	missense	possibly damaging	0.89
IGL00432:Zfp326	APN	5	106,044,399 (GRCm39)	missense	probably damaging	0.98
IGL01551:Zfp326	APN	5	106,036,451 (GRCm39)	missense	probably damaging	1.00
IGL03197:Zfp326	APN	5	106,039,059 (GRCm39)	missense	probably benign	0.00
PIT4508001:Zfp326	UTSW	5	106,062,556 (GRCm39)	missense	probably benign	0.02
R0326:Zfp326	UTSW	5	106,058,141 (GRCm39)	missense	probably damaging	1.00
R0411:Zfp326	UTSW	5	106,026,641 (GRCm39)	missense	possibly damaging	0.81
R0634:Zfp326	UTSW	5	106,034,069 (GRCm39)	nonsense	probably null
R0850:Zfp326	UTSW	5	106,026,663 (GRCm39)	splice site	probably null
R1833:Zfp326	UTSW	5	106,039,035 (GRCm39)	nonsense	probably null
R2108:Zfp326	UTSW	5	106,062,646 (GRCm39)	utr 3 prime	probably benign
R2857:Zfp326	UTSW	5	106,036,395 (GRCm39)	missense	probably benign	0.11
R3702:Zfp326	UTSW	5	106,036,709 (GRCm39)	splice site	probably null
R4690:Zfp326	UTSW	5	106,054,942 (GRCm39)	missense	probably damaging	1.00
R5614:Zfp326	UTSW	5	106,036,361 (GRCm39)	missense	probably damaging	1.00
R6212:Zfp326	UTSW	5	106,058,097 (GRCm39)	missense	probably damaging	1.00
R6274:Zfp326	UTSW	5	106,053,846 (GRCm39)	missense	probably damaging	1.00
R6439:Zfp326	UTSW	5	106,036,584 (GRCm39)	missense	probably null	0.69
R6963:Zfp326	UTSW	5	106,059,359 (GRCm39)	nonsense	probably null
R8073:Zfp326	UTSW	5	106,062,682 (GRCm39)	missense	unknown
R8496:Zfp326	UTSW	5	106,036,451 (GRCm39)	missense	probably damaging	1.00
R9781:Zfp326	UTSW	5	106,062,825 (GRCm39)	missense	unknown
Z1088:Zfp326	UTSW	5	106,036,496 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATGTTGAACTGCCCAGCC -3'
(R):5'- CATAAACCCAGGCCTCAATTTTG -3'

Sequencing Primer
(F):5'- TGCCCAGCCCTAATCAAGTGTG -3'
(R):5'- CAGGCCTCAATTTTGAACGG -3'

Posted On

2018-03-15