Mutagenetix > Incidental Mutation

Incidental Mutation 'R3115:Zscan22'

263974

Institutional Source

Beutler Lab

Gene Symbol

Zscan22

Ensembl Gene

ENSMUSG00000054715

Gene Name

zinc finger and SCAN domain containing 22

Synonyms

Hkr2, D530006B18Rik

MMRRC Submission

040588-MU

Accession Numbers

Essential gene?

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

Stock #

R3115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12631742-12643010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12641217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 328 (I328T)

Ref Sequence

ENSEMBL: ENSMUSP00000113486 (fasta)

Gene Model

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

AlphaFold

Q8BGS5

Predicted Effect

probably benign
Transcript: ENSMUST00000055528
AA Change: I487T

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057651
Gene: ENSMUSG00000054715
AA Change: I487T

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 benign
Transcript: ENSMUST00000117189
AA Change: I328T

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112684
Gene: ENSMUSG00000054715
AA Change: I328T

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 benign
Transcript: ENSMUST00000119989
AA Change: I328T

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113486
Gene: ENSMUSG00000054715
AA Change: I328T

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 benign
Transcript: ENSMUST00000120809
AA Change: I487T

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113314
Gene: ENSMUSG00000054715
AA Change: I487T

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

0.0849

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,266,653 (GRCm39)		probably null	Het
Abcc9	T	C	6: 142,634,755 (GRCm39)	T170A	probably benign	Het
Agbl2	T	C	2: 90,636,245 (GRCm39)	S594P	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Atf7	C	T	15: 102,442,858 (GRCm39)	S417N	probably benign	Het
Cacng7	T	C	7: 3,387,450 (GRCm39)	V111A	probably benign	Het
Chrm4	A	G	2: 91,757,705 (GRCm39)	T38A	probably benign	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Dcx	A	G	X: 142,706,105 (GRCm39)	Y229H	probably damaging	Het
Espl1	T	A	15: 102,231,639 (GRCm39)	F1945Y	possibly damaging	Het
Glul	T	C	1: 153,783,038 (GRCm39)	F204L	possibly damaging	Het
Grm2	A	G	9: 106,524,822 (GRCm39)	V631A	probably damaging	Het
Ifi205	T	A	1: 173,855,901 (GRCm39)	Y43F	possibly damaging	Het
Irs3	A	G	5: 137,642,118 (GRCm39)	L440P	probably benign	Het
Itpr1	A	G	6: 108,383,070 (GRCm39)	D1466G	possibly damaging	Het
Jarid2	T	C	13: 45,049,942 (GRCm39)	S257P	probably damaging	Het
Knl1	C	A	2: 118,900,872 (GRCm39)	L858M	possibly damaging	Het
Krt24	T	A	11: 99,173,262 (GRCm39)	T298S	possibly damaging	Het
Lrriq1	C	T	10: 103,006,294 (GRCm39)	R1277Q	probably benign	Het
Mgp	A	C	6: 136,849,683 (GRCm39)	Y92D	probably damaging	Het
Micu3	A	G	8: 40,835,208 (GRCm39)	H521R	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Mprip	T	A	11: 59,656,229 (GRCm39)		probably null	Het
Mybph	A	G	1: 134,122,476 (GRCm39)	I174V	probably benign	Het
Mynn	C	T	3: 30,661,959 (GRCm39)	T347M	probably damaging	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nr1d2	A	T	14: 18,215,504 (GRCm38)		probably null	Het
Or10g3	T	C	14: 52,610,397 (GRCm39)	T38A	probably damaging	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or52h9	C	A	7: 104,202,295 (GRCm39)	H56Q	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Pcdha4	T	C	18: 37,086,603 (GRCm39)	V262A	probably benign	Het
Pde4d	T	A	13: 110,084,792 (GRCm39)	M519K	probably damaging	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prdx4	C	T	X: 154,113,407 (GRCm39)	R167Q	probably damaging	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Prph	T	A	15: 98,953,337 (GRCm39)	F84I	probably damaging	Het
Rnmt	A	G	18: 68,447,079 (GRCm39)	E321G	probably benign	Het
Serpinb13	A	T	1: 106,910,568 (GRCm39)	E64V	probably null	Het
Slc12a4	A	T	8: 106,686,091 (GRCm39)	S81T	probably damaging	Het
Slc47a1	A	G	11: 61,258,506 (GRCm39)	L179P	possibly damaging	Het
Sp140l2	C	G	1: 85,235,106 (GRCm39)		probably benign	Het
Spata31e5	A	C	1: 28,815,410 (GRCm39)	V874G	possibly damaging	Het
Sycp2l	C	A	13: 41,302,274 (GRCm39)	T456K	probably benign	Het
Tenm2	A	G	11: 35,914,193 (GRCm39)	L2447P	probably damaging	Het
Tll1	A	G	8: 64,506,900 (GRCm39)	C614R	probably damaging	Het
Usp5	T	C	6: 124,792,560 (GRCm39)	Y826C	probably damaging	Het
Vmn2r71	A	C	7: 85,272,866 (GRCm39)	D560A	probably damaging	Het
Wdr91	A	G	6: 34,882,522 (GRCm39)	L209P	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp81	C	T	17: 33,553,537 (GRCm39)	A426T	possibly damaging	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
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
R5608: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'- AGTGACTGTTCAGCTCTGGTC -3'
(R):5'- GGGCAGTAGGAAGCTTCTAG -3'

Sequencing Primer
(F):5'- TTCAGCTCTGGTCCGGCAC -3'
(R):5'- CTTCTAGAAGCTTCACCAATTGG -3'

Posted On

2015-02-05