Mutagenetix > Incidental Mutation

Incidental Mutation 'R6601:Zscan4-ps1'

525259

Institutional Source

Beutler Lab

Gene Symbol

Zscan4-ps1

Ensembl Gene

ENSMUSG00000110103

Gene Name

zinc finger and SCAN domain containing 4, pseudogene 1

Synonyms

EG545912

MMRRC Submission

044725-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R6601 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10799066-10803618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10802761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 13 (T13A)

Ref Sequence

ENSEMBL: ENSMUSP00000131258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165848]

AlphaFold

A0A1C7CYV3

Predicted Effect

probably benign
Transcript: ENSMUST00000165848
AA Change: T13A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: T13A

Domain	Start	End	E-Value	Type
Pfam:SCAN	43	122	1.3e-17	PFAM
low complexity region	181	197	N/A	INTRINSIC
ZnF_C2H2	395	417	5.14e-3	SMART
ZnF_C2H2	424	446	7.68e0	SMART
ZnF_C2H2	452	474	4.17e-3	SMART
ZnF_C2H2	480	503	3.83e-2	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	G	1: 58,102,665 (GRCm39)	L527R	probably damaging	Het
Ccdc172	T	A	19: 58,525,723 (GRCm39)	C194S	possibly damaging	Het
Ccnb1ip1	G	T	14: 51,031,121 (GRCm39)	T64K	possibly damaging	Het
Ces1b	T	C	8: 93,806,109 (GRCm39)	E44G	probably benign	Het
Coro2a	A	T	4: 46,543,421 (GRCm39)	Y317*	probably null	Het
Csnk1a1	T	C	18: 61,711,829 (GRCm39)	F281S	probably damaging	Het
Ddx28	A	T	8: 106,737,248 (GRCm39)		probably null	Het
Dtnbp1	A	G	13: 45,084,721 (GRCm39)		probably null	Het
Eif2s1	T	C	12: 78,930,126 (GRCm39)	I258T	possibly damaging	Het
Elp3	T	C	14: 65,784,488 (GRCm39)	*554W	probably null	Het
Golga1	T	C	2: 38,910,118 (GRCm39)	M610V	probably damaging	Het
Hc	T	A	2: 34,935,906 (GRCm39)	K156N	probably benign	Het
Hcls1	G	A	16: 36,782,748 (GRCm39)	G428D	probably benign	Het
Il16	T	C	7: 83,371,677 (GRCm39)	D43G	probably damaging	Het
Klhl3	C	A	13: 58,242,930 (GRCm39)	K91N	probably damaging	Het
L3mbtl1	C	T	2: 162,790,095 (GRCm39)		probably benign	Het
Lamc3	T	C	2: 31,810,544 (GRCm39)	F805L	possibly damaging	Het
Lipg	T	C	18: 75,081,275 (GRCm39)	M269V	probably benign	Het
Ly75	G	A	2: 60,148,720 (GRCm39)	T1203I	probably benign	Het
Mat1a	T	A	14: 40,827,561 (GRCm39)	V5E	probably benign	Het
Muc16	A	T	9: 18,548,866 (GRCm39)	L5809Q	probably benign	Het
Naip6	G	A	13: 100,420,266 (GRCm39)	R1335C	probably benign	Het
Ndufaf3	T	C	9: 108,443,416 (GRCm39)	H128R	probably benign	Het
Nphp4	A	T	4: 152,587,464 (GRCm39)		probably null	Het
Or8u8	T	A	2: 86,012,309 (GRCm39)	I49F	probably damaging	Het
Otop3	T	C	11: 115,230,673 (GRCm39)	V148A	probably damaging	Het
Ovgp1	T	C	3: 105,893,747 (GRCm39)		probably benign	Het
Pcsk5	T	G	19: 17,488,744 (GRCm39)	R1025S	probably benign	Het
Pkd1l2	T	C	8: 117,767,405 (GRCm39)	D1295G	probably benign	Het
Polr1d	T	A	5: 147,015,359 (GRCm39)	L14*	probably null	Het
Rab26	T	A	17: 24,748,595 (GRCm39)	K270*	probably null	Het
Rasgef1c	T	A	11: 49,862,246 (GRCm39)	N378K	probably damaging	Het
Rpl7a	T	C	2: 26,801,536 (GRCm39)	V76A	probably benign	Het
Samd9l	T	A	6: 3,377,229 (GRCm39)	I11F	possibly damaging	Het
Smarca2	C	A	19: 26,631,777 (GRCm39)	Q531K	probably benign	Het
Styxl1	C	G	5: 135,784,350 (GRCm39)	G211A	probably benign	Het
Taar9	T	C	10: 23,984,945 (GRCm39)	Y163C	probably damaging	Het
Tmem198	T	A	1: 75,457,017 (GRCm39)	F48I	possibly damaging	Het
Ttn	T	A	2: 76,595,073 (GRCm39)	N12032I	probably damaging	Het
Ubr7	T	A	12: 102,727,723 (GRCm39)	C82S	probably damaging	Het
Wwtr1	T	C	3: 57,483,159 (GRCm39)	E48G	possibly damaging	Het
Zfp108	T	C	7: 23,960,819 (GRCm39)	V470A	probably damaging	Het
Zfp612	C	A	8: 110,816,181 (GRCm39)	Q424K	possibly damaging	Het

Other mutations in Zscan4-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
G1patch:Zscan4-ps1	UTSW	7	10,799,906 (GRCm39)	missense	probably benign	0.13
R6135:Zscan4-ps1	UTSW	7	10,799,913 (GRCm39)	missense	probably benign
R6258:Zscan4-ps1	UTSW	7	10,799,829 (GRCm39)	missense	probably benign	0.00
R6377:Zscan4-ps1	UTSW	7	10,802,418 (GRCm39)	splice site	probably null
R6725:Zscan4-ps1	UTSW	7	10,799,906 (GRCm39)	missense	probably benign	0.13
R7198:Zscan4-ps1	UTSW	7	10,799,626 (GRCm39)	missense	probably damaging	1.00
R7850:Zscan4-ps1	UTSW	7	10,799,735 (GRCm39)	missense	probably benign
R8427:Zscan4-ps1	UTSW	7	10,802,447 (GRCm39)	missense	possibly damaging	0.93
R8966:Zscan4-ps1	UTSW	7	10,800,250 (GRCm39)	missense	probably benign	0.00
R9098:Zscan4-ps1	UTSW	7	10,799,495 (GRCm39)	missense	probably damaging	0.99
R9281:Zscan4-ps1	UTSW	7	10,799,589 (GRCm39)	missense	possibly damaging	0.77
R9378:Zscan4-ps1	UTSW	7	10,800,192 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGCTCCAAGACCAGTTGAG -3'
(R):5'- GGAACCCATAAAACCATCTGTG -3'

Sequencing Primer
(F):5'- GACCAGTTGAGAAATCATCTGCTC -3'
(R):5'- TAAAACCATCTGTGACACAAATCTC -3'

Posted On

2018-06-22