Mutagenetix > Incidental Mutation

Incidental Mutation 'R5608:Zscan22'

439384

Institutional Source

Beutler Lab

Gene Symbol

Zscan22

Ensembl Gene

ENSMUSG00000054715

Gene Name

zinc finger and SCAN domain containing 22

Synonyms

Hkr2, D530006B18Rik

MMRRC Submission

043272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12631742-12643010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12640919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 388 (G388S)

Ref Sequence

ENSEMBL: ENSMUSP00000113314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055528] [ENSMUST00000117189] [ENSMUST00000119989] [ENSMUST00000120809]

AlphaFold

Q8BGS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000055528
AA Change: G388S

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

SMART Domains

Protein: ENSMUSP00000057651
Gene: ENSMUSG00000054715
AA Change: G388S

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
SCAN	45	154	8.03e-50	SMART
ZnF_C2H2	273	292	6.64e1	SMART
ZnF_C2H2	298	320	6.88e-4	SMART
ZnF_C2H2	326	348	1.04e-3	SMART
ZnF_C2H2	354	376	8.02e-5	SMART
ZnF_C2H2	382	404	6.42e-4	SMART
ZnF_C2H2	410	432	1.06e-4	SMART
ZnF_C2H2	438	460	3.21e-4	SMART
ZnF_C2H2	466	488	1.72e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117189
AA Change: G229S

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

SMART Domains

Protein: ENSMUSP00000112684
Gene: ENSMUSG00000054715
AA Change: G229S

Domain	Start	End	E-Value	Type
ZnF_C2H2	114	133	6.64e1	SMART
ZnF_C2H2	139	161	6.88e-4	SMART
ZnF_C2H2	167	189	1.04e-3	SMART
ZnF_C2H2	195	217	8.02e-5	SMART
ZnF_C2H2	223	245	6.42e-4	SMART
ZnF_C2H2	251	273	1.06e-4	SMART
ZnF_C2H2	279	301	3.21e-4	SMART
ZnF_C2H2	307	329	1.72e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119989
AA Change: G229S

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

SMART Domains

Protein: ENSMUSP00000113486
Gene: ENSMUSG00000054715
AA Change: G229S

Domain	Start	End	E-Value	Type
ZnF_C2H2	114	133	6.64e1	SMART
ZnF_C2H2	139	161	6.88e-4	SMART
ZnF_C2H2	167	189	1.04e-3	SMART
ZnF_C2H2	195	217	8.02e-5	SMART
ZnF_C2H2	223	245	6.42e-4	SMART
ZnF_C2H2	251	273	1.06e-4	SMART
ZnF_C2H2	279	301	3.21e-4	SMART
ZnF_C2H2	307	329	1.72e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120809
AA Change: G388S

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

SMART Domains

Protein: ENSMUSP00000113314
Gene: ENSMUSG00000054715
AA Change: G388S

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
SCAN	45	154	8.03e-50	SMART
ZnF_C2H2	273	292	6.64e1	SMART
ZnF_C2H2	298	320	6.88e-4	SMART
ZnF_C2H2	326	348	1.04e-3	SMART
ZnF_C2H2	354	376	8.02e-5	SMART
ZnF_C2H2	382	404	6.42e-4	SMART
ZnF_C2H2	410	432	1.06e-4	SMART
ZnF_C2H2	438	460	3.21e-4	SMART
ZnF_C2H2	466	488	1.72e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	T	C	10: 80,178,781 (GRCm39)	D199G	probably benign	Het
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Adgrv1	T	C	13: 81,303,395 (GRCm39)	E117G	probably damaging	Het
Alkbh7	A	T	17: 57,305,446 (GRCm39)	I88F	probably damaging	Het
Ankrd26	C	A	6: 118,488,583 (GRCm39)	D1359Y	probably damaging	Het
Apoo-ps	T	C	13: 107,550,709 (GRCm39)		noncoding transcript	Het
Arfgap2	G	A	2: 91,100,547 (GRCm39)	R298H	probably damaging	Het
Birc6	G	A	17: 74,920,539 (GRCm39)	V2109I	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Bpifa1	T	C	2: 153,989,495 (GRCm39)		probably benign	Het
Capn7	A	G	14: 31,092,664 (GRCm39)	Y737C	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Colec12	T	A	18: 9,848,267 (GRCm39)	D148E	possibly damaging	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Dpysl4	T	C	7: 138,678,459 (GRCm39)	V473A	probably damaging	Het
Dyrk3	T	C	1: 131,056,452 (GRCm39)	S574G	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Helq	C	T	5: 100,938,085 (GRCm39)	G454S	probably damaging	Het
Incenp	CGCTGCTGCTGC	CGCTGCTGCTGCTGC	19: 9,871,232 (GRCm39)		probably benign	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Ltbp2	A	C	12: 84,834,238 (GRCm39)		probably null	Het
Marcks	A	T	10: 37,012,912 (GRCm39)	V41E	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Nhlrc3	C	T	3: 53,369,732 (GRCm39)		probably null	Het
Or1n1b	A	G	2: 36,780,527 (GRCm39)	F111S	probably damaging	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or8b8	G	A	9: 37,809,078 (GRCm39)	C126Y	probably damaging	Het
Pcdhga6	A	G	18: 37,840,514 (GRCm39)	N78S	possibly damaging	Het
Plag1	T	A	4: 3,905,463 (GRCm39)	K76*	probably null	Het
Ptpn21	T	A	12: 98,655,036 (GRCm39)	T644S	probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Rnf157	A	T	11: 116,287,146 (GRCm39)		probably null	Het
Serpina5	A	C	12: 104,070,003 (GRCm39)	Y300S	probably damaging	Het
Slc41a3	A	G	6: 90,617,889 (GRCm39)	K279R	probably benign	Het
Smndc1	A	G	19: 53,372,084 (GRCm39)	V110A	probably benign	Het
Spata31e2	T	C	1: 26,722,129 (GRCm39)	Q1017R	probably damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Utrn	A	T	10: 12,547,581 (GRCm39)	S1620T	probably benign	Het
Xkr4	T	C	1: 3,741,603 (GRCm39)		probably benign	Het

Other mutations in Zscan22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01966:Zscan22	APN	7	12,640,398 (GRCm39)	missense	probably benign	0.01
IGL02408:Zscan22	APN	7	12,640,426 (GRCm39)	missense	probably benign	0.09
PIT4378001:Zscan22	UTSW	7	12,637,983 (GRCm39)	missense	possibly damaging	0.89
R0079:Zscan22	UTSW	7	12,638,014 (GRCm39)	critical splice donor site	probably null
R1677:Zscan22	UTSW	7	12,640,730 (GRCm39)	missense	probably damaging	1.00
R1731:Zscan22	UTSW	7	12,640,907 (GRCm39)	missense	probably damaging	1.00
R1944:Zscan22	UTSW	7	12,637,767 (GRCm39)	missense	probably damaging	0.98
R2258:Zscan22	UTSW	7	12,637,887 (GRCm39)	missense	probably damaging	1.00
R2276:Zscan22	UTSW	7	12,640,750 (GRCm39)	nonsense	probably null
R3115:Zscan22	UTSW	7	12,641,217 (GRCm39)	missense	probably benign	0.39
R4064:Zscan22	UTSW	7	12,640,941 (GRCm39)	missense	probably damaging	1.00
R4274:Zscan22	UTSW	7	12,640,251 (GRCm39)	missense	probably benign	0.01
R4691:Zscan22	UTSW	7	12,640,488 (GRCm39)	missense	probably benign	0.06
R5355:Zscan22	UTSW	7	12,640,435 (GRCm39)	missense	probably benign	0.00
R5607:Zscan22	UTSW	7	12,640,919 (GRCm39)	missense	probably damaging	1.00
R5789:Zscan22	UTSW	7	12,637,853 (GRCm39)	missense	probably benign
R6293:Zscan22	UTSW	7	12,640,834 (GRCm39)	nonsense	probably null
R7210:Zscan22	UTSW	7	12,640,748 (GRCm39)	missense	probably damaging	0.98
R7475:Zscan22	UTSW	7	12,640,664 (GRCm39)	missense	probably damaging	0.99
R7491:Zscan22	UTSW	7	12,640,833 (GRCm39)	missense	probably damaging	1.00
R8321:Zscan22	UTSW	7	12,637,625 (GRCm39)	missense	probably benign	0.28
R9198:Zscan22	UTSW	7	12,641,130 (GRCm39)	missense	probably damaging	1.00
R9238:Zscan22	UTSW	7	12,641,075 (GRCm39)	missense	probably damaging	1.00
R9566:Zscan22	UTSW	7	12,640,866 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCACACAGGAGCAAAGC -3'
(R):5'- TCAATGAGGGAGGAGCTTTG -3'

Sequencing Primer
(F):5'- CCCCATGCGTGTAAAGAGTGTG -3'
(R):5'- GCTTTGTGCGAAGGCCTTC -3'

Posted On

2016-10-26