Mutagenetix > Incidental Mutation

Incidental Mutation 'R9265:Zscan4c'

702477

Institutional Source

Beutler Lab

Gene Symbol

Zscan4c

Ensembl Gene

ENSMUSG00000054272

Gene Name

zinc finger and SCAN domain containing 4C

Synonyms

LOC245109

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R9265 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10739672-10744474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10740824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 114 (S114R)

Ref Sequence

ENSEMBL: ENSMUSP00000118506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000131379]

AlphaFold

Q80VJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000131379
AA Change: S114R

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118506
Gene: ENSMUSG00000054272
AA Change: S114R

Domain	Start	End	E-Value	Type
Pfam:SCAN	43	122	3.7e-17	PFAM
low complexity region	181	197	N/A	INTRINSIC
ZnF_C2H2	395	417	2.75e-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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (46/47)

MGI Phenotype

PHENOTYPE: Compound heterozygous knock-out mice display no phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a2	T	C	11: 61,153,094 (GRCm39)	K211E	probably damaging	Het
Apba2	G	T	7: 64,393,020 (GRCm39)	A514S	probably damaging	Het
Aspm	C	T	1: 139,389,182 (GRCm39)	T615I	probably benign	Het
Atrnl1	T	A	19: 57,766,359 (GRCm39)	F1232Y	probably benign	Het
B4galt3	A	G	1: 171,101,617 (GRCm39)	D197G	probably damaging	Het
Calcrl	T	G	2: 84,200,400 (GRCm39)	N127H	possibly damaging	Het
Camkv	T	G	9: 107,825,262 (GRCm39)	I421S	possibly damaging	Het
Cdc123	T	C	2: 5,808,765 (GRCm39)	D237G	possibly damaging	Het
Cilp	A	G	9: 65,187,333 (GRCm39)	T1143A	probably benign	Het
Col5a1	G	A	2: 27,854,123 (GRCm39)	R569K	unknown	Het
Cpn1	T	C	19: 43,958,599 (GRCm39)	I201V	probably damaging	Het
Cr1l	T	C	1: 194,806,027 (GRCm39)	D152G	probably benign	Het
Csf2rb	A	T	15: 78,232,746 (GRCm39)	E684D	probably benign	Het
Csmd2	A	T	4: 128,294,163 (GRCm39)	N1164I		Het
Ddx42	A	G	11: 106,132,435 (GRCm39)	N486S	probably benign	Het
Dnah6	A	G	6: 73,060,040 (GRCm39)	I2848T	probably benign	Het
Dnah7a	T	C	1: 53,674,505 (GRCm39)	D424G	probably benign	Het
Dnah9	T	C	11: 65,732,081 (GRCm39)	H4275R	probably benign	Het
Epha6	G	A	16: 59,476,117 (GRCm39)	T1083M	probably damaging	Het
Fzd1	A	G	5: 4,807,216 (GRCm39)	I122T	probably damaging	Het
Gm28042	T	C	2: 119,871,705 (GRCm39)	F914S	probably damaging	Het
Gpatch11	A	G	17: 79,146,547 (GRCm39)	D64G	probably benign	Het
Hinfp	A	G	9: 44,209,083 (GRCm39)	V345A	possibly damaging	Het
Hoxd8	C	T	2: 74,536,115 (GRCm39)	S75L	probably benign	Het
Igsf1	A	G	X: 48,884,191 (GRCm39)	M2T	possibly damaging	Het
Krt42	C	T	11: 100,157,808 (GRCm39)	E219K	probably damaging	Het
Mcm3	C	A	1: 20,879,905 (GRCm39)	D531Y	probably damaging	Het
Msantd1	C	T	5: 35,080,861 (GRCm39)	R264*	probably null	Het
Nadk2	A	G	15: 9,071,774 (GRCm39)	T65A	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Neb	T	C	2: 52,089,456 (GRCm39)	D5172G	probably null	Het
Nlrp9a	G	T	7: 26,258,038 (GRCm39)	R552I	possibly damaging	Het
Nr3c2	A	G	8: 77,636,236 (GRCm39)	T446A	probably benign	Het
Or4x11	T	C	2: 89,867,842 (GRCm39)	I193T	probably benign	Het
Or51g2	C	T	7: 102,623,112 (GRCm39)	W29*	probably null	Het
Or52s6	C	A	7: 103,092,165 (GRCm39)	R55L	possibly damaging	Het
Or7g21	T	A	9: 19,032,984 (GRCm39)	C241*	probably null	Het
Pcdhb10	A	G	18: 37,546,553 (GRCm39)	Q543R	possibly damaging	Het
Pcdhga6	A	G	18: 37,841,102 (GRCm39)	H274R	possibly damaging	Het
Pknox1	A	G	17: 31,809,672 (GRCm39)	D92G	probably damaging	Het
Pnpla6	C	T	8: 3,573,294 (GRCm39)	P386L	probably benign	Het
Rlf	G	C	4: 121,007,487 (GRCm39)	P608A	possibly damaging	Het
Sardh	A	T	2: 27,105,065 (GRCm39)	I686N	probably damaging	Het
Sstr3	G	T	15: 78,423,792 (GRCm39)	N318K	probably damaging	Het
St6gal1	A	G	16: 23,140,168 (GRCm39)	Y113C	probably damaging	Het
Syndig1	T	C	2: 149,845,160 (GRCm39)	F228L	probably damaging	Het
Ttll5	T	A	12: 85,937,795 (GRCm39)	C375*	probably null	Het

Other mutations in Zscan4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Zscan4c	APN	7	10,743,544 (GRCm39)	missense	probably benign	0.00
R5305:Zscan4c	UTSW	7	10,743,462 (GRCm39)	missense	probably benign	0.00
R5771:Zscan4c	UTSW	7	10,743,574 (GRCm39)	missense	probably benign	0.00
R6182:Zscan4c	UTSW	7	10,740,709 (GRCm39)	missense	probably benign	0.05
R6431:Zscan4c	UTSW	7	10,740,856 (GRCm39)	missense	probably benign	0.02
R7638:Zscan4c	UTSW	7	10,743,658 (GRCm39)	missense	possibly damaging	0.96
R7920:Zscan4c	UTSW	7	10,743,699 (GRCm39)	missense	possibly damaging	0.53
R9172:Zscan4c	UTSW	7	10,743,819 (GRCm39)	missense	possibly damaging	0.71
R9181:Zscan4c	UTSW	7	10,743,741 (GRCm39)	missense	probably benign	0.00
R9499:Zscan4c	UTSW	7	10,740,853 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGAGCTGCAAAGTCTCTGG -3'
(R):5'- GATAGGCTCCTTTCTGCTATATTCATG -3'

Sequencing Primer
(F):5'- AGTCTCTGGAAGATGTTCAACTCCTG -3'
(R):5'- ATTTGAGGCAATCATTTTTCTTCAG -3'

Posted On

2022-03-25