Mutagenetix > Incidental Mutations

Incidental Mutation 'R2426:Zscan4d'

250215

Institutional Source

Beutler Lab

Gene Symbol

Zscan4d

Ensembl Gene

ENSMUSG00000090714

Gene Name

zinc finger and SCAN domain containing 4D

Synonyms

EG545913

MMRRC Submission

040388-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R2426 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

11161374-11166159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11165095 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 85 (F85S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067210] [ENSMUST00000165848]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067210
AA Change: F85S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: F85S

Domain	Start	End	E-Value	Type
Pfam:SCAN	39	126	2.5e-19	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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094850
AA Change: F85S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092446
Gene: ENSMUSG00000090714
AA Change: F85S

Domain	Start	End	E-Value	Type
Pfam:SCAN	30	126	1.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165848
AA Change: F85S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: F85S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209835

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	A	11: 23,576,801	R190W	probably damaging	Het
Abca14	G	T	7: 120,283,223	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,156,788	V131I	probably benign	Het
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,421,902	V324A	probably damaging	Het
Ahnak	A	T	19: 9,002,851	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,284	D851G	probably damaging	Het
Amot	T	C	X: 145,476,291	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,384,181	E161*	probably null	Het
Atg9b	A	T	5: 24,386,994	I669N	probably damaging	Het
AY761184	T	G	8: 21,702,637	K114N	possibly damaging	Het
Ccdc83	A	G	7: 90,228,431	Y268H	probably damaging	Het
Cep170	A	G	1: 176,774,635	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,571,016	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,317,776	Y231F	probably benign	Het
Dock3	A	T	9: 106,914,541	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,336,804	I629N	probably damaging	Het
Dst	A	T	1: 34,192,812	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,493,080	P343L	probably benign	Het
Fbrs	A	G	7: 127,487,339		probably null	Het
Fbxl13	A	C	5: 21,522,137	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,529,862	S164T	probably damaging	Het
Gdi2	T	G	13: 3,562,034	S330A	probably benign	Het
Gm5878	A	T	6: 85,118,631	M70K	probably benign	Het
H2-Q6	G	T	17: 35,424,937	A21S	probably benign	Het
Hfm1	A	T	5: 106,847,653		probably null	Het
Hnmt	C	T	2: 24,019,155	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,446,619	A310D	probably damaging	Het
Ints1	A	T	5: 139,771,814		probably null	Het
Kcne4	C	A	1: 78,817,971	A112E	possibly damaging	Het
Krt32	T	C	11: 100,086,366	K236R	possibly damaging	Het
Maml2	T	C	9: 13,706,498	L380P	probably damaging	Het
Meis1	A	T	11: 18,988,356	D218E	possibly damaging	Het
Mon1b	G	A	8: 113,639,120	G360D	probably damaging	Het
Mpp4	A	G	1: 59,130,057	S383P	probably damaging	Het
Neb	A	G	2: 52,169,053		probably null	Het
Nlgn2	A	T	11: 69,827,086	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,563,485	L134P	probably damaging	Het
Olfr329-ps	A	T	11: 58,543,094	Y127*	probably null	Het
Olfr371	T	C	8: 85,231,064	S190P	probably damaging	Het
Olfr777	T	C	10: 129,269,266	Q19R	probably benign	Het
Opcml	G	A	9: 28,903,367		probably null	Het
Pate2	A	T	9: 35,670,480		probably null	Het
Pgr	G	A	9: 8,900,717	V84M	probably damaging	Het
Pigu	A	T	2: 155,299,082	V296D	probably damaging	Het
Plcb2	G	A	2: 118,715,649	T555M	probably damaging	Het
Pld5	T	G	1: 175,963,976	D426A	probably benign	Het
Prdm2	G	T	4: 143,111,750	C1679*	probably null	Het
Psme2b	A	T	11: 48,946,063	V19D	probably benign	Het
Ptpn9	A	T	9: 57,027,428	N159Y	possibly damaging	Het
Sdc3	A	T	4: 130,818,803	T64S	unknown	Het
Serping1	T	G	2: 84,770,219	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,208,230	F436S	probably benign	Het
Sntb1	A	T	15: 55,906,179	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spink1	G	T	18: 43,735,222	S23*	probably null	Het
Stag1	T	C	9: 100,845,116		probably null	Het
Tnfaip8l1	G	A	17: 56,172,030	V107I	probably benign	Het
Tnik	A	G	3: 28,646,681	S907G	probably damaging	Het
Ttf1	T	A	2: 29,067,185	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp54	G	A	14: 20,564,940	A811V	probably benign	Het
Xirp2	A	G	2: 67,514,471	N2352S	probably benign	Het
Zan	T	C	5: 137,388,992	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,360,219	S161P	probably benign	Het
Zkscan5	A	T	5: 145,220,940	I751L	probably benign	Het
Zzef1	A	G	11: 72,915,265	M2647V	probably benign	Het

Other mutations in Zscan4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Zscan4d	APN	7	11162354	missense	probably benign	0.00
IGL01576:Zscan4d	APN	7	11162592	missense	possibly damaging	0.91
IGL01926:Zscan4d	APN	7	11164994	missense	probably damaging	0.98
IGL02008:Zscan4d	APN	7	11162369	missense	probably benign	0.00
IGL02245:Zscan4d	APN	7	11162789	missense	probably benign
IGL02473:Zscan4d	APN	7	11162409	missense	probably benign	0.04
IGL02805:Zscan4d	APN	7	11164970	splice site	probably benign
IGL03010:Zscan4d	APN	7	11163143	missense	probably damaging	0.98
IGL03383:Zscan4d	APN	7	11162765	missense	probably benign	0.07
R0626:Zscan4d	UTSW	7	11165019	missense	probably damaging	0.97
R1084:Zscan4d	UTSW	7	11165005	missense	probably damaging	0.99
R1457:Zscan4d	UTSW	7	11164994	missense	probably damaging	0.98
R2912:Zscan4d	UTSW	7	11162687	missense	probably benign
R3736:Zscan4d	UTSW	7	11162876	missense	probably benign
R4379:Zscan4d	UTSW	7	11164978	missense	probably benign
R4580:Zscan4d	UTSW	7	11162508	missense	probably benign	0.00
R4765:Zscan4d	UTSW	7	11162667	missense	probably benign	0.08
R4975:Zscan4d	UTSW	7	11165347	start codon destroyed	probably null	0.02
R6452:Zscan4d	UTSW	7	11162072	missense	probably damaging	0.98
R6570:Zscan4d	UTSW	7	11162000	missense	possibly damaging	0.92
R6680:Zscan4d	UTSW	7	11162439	missense	possibly damaging	0.85
R7726:Zscan4d	UTSW	7	11165242	missense	possibly damaging	0.65
R7772:Zscan4d	UTSW	7	11162843	missense	probably benign	0.28
R8282:Zscan4d	UTSW	7	11162442	missense	possibly damaging	0.91
R8320:Zscan4d	UTSW	7	11066015	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACCCAAATGATTCTGCCTTTC -3'
(R):5'- GTCACCACAATGGCTTCACAG -3'

Sequencing Primer
(F):5'- TCCTTCCATCTAAGCCCCAGAG -3'
(R):5'- CCATCTCATAGTTCTGGTGTGCAG -3'

Posted On

2014-11-12