Mutagenetix > Incidental Mutation

Incidental Mutation 'R9198:Zscan22'

698045

Institutional Source

Beutler Lab

Gene Symbol

Zscan22

Ensembl Gene

ENSMUSG00000054715

Gene Name

zinc finger and SCAN domain containing 22

Synonyms

Hkr2, D530006B18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R9198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12631742-12643010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12641130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 458 (R458L)

Ref Sequence

ENSEMBL: ENSMUSP00000057651 (fasta)

Gene Model

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

AlphaFold

Q8BGS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000055528
AA Change: R458L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057651
Gene: ENSMUSG00000054715
AA Change: R458L

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: R299L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112684
Gene: ENSMUSG00000054715
AA Change: R299L

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: R299L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113486
Gene: ENSMUSG00000054715
AA Change: R299L

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: R458L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113314
Gene: ENSMUSG00000054715
AA Change: R458L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts9	A	T	6: 92,837,170 (GRCm39)	S1164T	probably benign	Het
Bcat1	A	T	6: 144,985,222 (GRCm39)	I140N	probably damaging	Het
Bod1l	T	C	5: 41,957,129 (GRCm39)	T2832A	probably benign	Het
Brca2	A	T	5: 150,459,977 (GRCm39)	E417D	possibly damaging	Het
Ccdc88b	T	C	19: 6,831,268 (GRCm39)	D558G	possibly damaging	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cenpf	G	T	1: 189,388,987 (GRCm39)	T1615K	probably damaging	Het
Cep250	T	C	2: 155,830,354 (GRCm39)		probably null	Het
Clec4d	T	C	6: 123,251,757 (GRCm39)	F213S	probably damaging	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Csmd1	G	A	8: 15,962,430 (GRCm39)	R3255W	probably damaging	Het
Ctsm	T	C	13: 61,687,612 (GRCm39)	D82G	probably damaging	Het
Cyp26a1	A	G	19: 37,686,790 (GRCm39)	T81A	probably damaging	Het
Dld	A	G	12: 31,390,885 (GRCm39)	V187A	probably benign	Het
Dmrt2	T	A	19: 25,655,477 (GRCm39)	Y359N	probably benign	Het
Dnah9	T	C	11: 65,846,570 (GRCm39)	N2914S	probably benign	Het
Dpyd	A	T	3: 118,553,303 (GRCm39)		probably null	Het
Fgl2	A	C	5: 21,577,920 (GRCm39)	Q69P	probably damaging	Het
Gadd45gip1	A	T	8: 85,560,780 (GRCm39)	I132F	probably damaging	Het
Gm15446	T	C	5: 110,090,743 (GRCm39)	C332R	probably damaging	Het
Gm15737	A	T	6: 92,856,640 (GRCm39)	E23V	unknown	Het
Gm5111	A	G	6: 48,567,037 (GRCm39)	H84R	unknown	Het
Golga3	G	A	5: 110,355,619 (GRCm39)	S991N	probably benign	Het
H2-M10.3	A	G	17: 36,678,919 (GRCm39)	Y50H	probably damaging	Het
Hivep2	C	T	10: 14,005,621 (GRCm39)	H740Y	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ints7	T	A	1: 191,351,872 (GRCm39)	S860R	probably benign	Het
Lipi	T	A	16: 75,362,461 (GRCm39)	T217S	possibly damaging	Het
Lrrc2	G	T	9: 110,791,722 (GRCm39)	C158F	probably benign	Het
Lrrc30	T	C	17: 67,938,854 (GRCm39)	D242G	probably benign	Het
Map1a	A	T	2: 121,133,854 (GRCm39)	M1557L	probably benign	Het
Matn2	A	G	15: 34,423,924 (GRCm39)	E594G	probably damaging	Het
Mfsd12	T	C	10: 81,198,544 (GRCm39)	L345P	probably damaging	Het
Mmp24	A	G	2: 155,640,041 (GRCm39)	R124G	probably benign	Het
Ngef	T	A	1: 87,406,797 (GRCm39)	H240L	unknown	Het
Nmur1	T	G	1: 86,315,256 (GRCm39)	D203A	probably benign	Het
Nt5c3	T	C	6: 56,859,955 (GRCm39)	Q328R	probably benign	Het
Ogfr	T	C	2: 180,232,850 (GRCm39)		probably null	Het
Or4k1	A	T	14: 50,377,990 (GRCm39)	Y35*	probably null	Het
Or52ac1	T	A	7: 104,245,635 (GRCm39)	Y251F	probably damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Osbpl10	G	A	9: 115,061,211 (GRCm39)	W588*	probably null	Het
Pask	A	T	1: 93,265,205 (GRCm39)	S17T	possibly damaging	Het
Pfkfb3	C	T	2: 11,491,084 (GRCm39)	R170K	probably damaging	Het
Plec	A	G	15: 76,069,937 (GRCm39)	C960R	unknown	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rfx7	T	C	9: 72,524,163 (GRCm39)	L451P	probably damaging	Het
Rimbp2	T	A	5: 128,883,552 (GRCm39)	E76V	probably damaging	Het
Rock2	A	G	12: 17,015,557 (GRCm39)	N818S	probably benign	Het
Ryk	A	T	9: 102,758,854 (GRCm39)	I248F	possibly damaging	Het
Setd2	A	G	9: 110,378,168 (GRCm39)	Q661R	possibly damaging	Het
Siae	T	C	9: 37,539,105 (GRCm39)	V172A	probably benign	Het
Slc35f4	A	G	14: 49,556,377 (GRCm39)	S9P	unknown	Het
Smg1	T	C	7: 117,795,179 (GRCm39)	E456G	unknown	Het
Srgap3	C	T	6: 112,743,865 (GRCm39)	A458T	probably damaging	Het
Tgfbrap1	T	A	1: 43,093,799 (GRCm39)	R564S	probably damaging	Het
Usp15	A	G	10: 123,004,143 (GRCm39)	Y204H	probably damaging	Het
Usp35	A	G	7: 96,962,276 (GRCm39)	Y527H	probably damaging	Het
Usp8	T	A	2: 126,600,524 (GRCm39)	*1092K	probably null	Het
Vmn2r73	A	T	7: 85,518,987 (GRCm39)	M545K	probably benign	Het
Ylpm1	A	T	12: 85,080,689 (GRCm39)		probably null	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
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
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'- TGTGATACTTGCGGCAAAGC -3'
(R):5'- GACACTGGGTAGCACAATTATCAG -3'

Sequencing Primer
(F):5'- GGCAAAGCCTTCAGCCAGAG -3'
(R):5'- CTGGGTAGCACAATTATCAGATTTC -3'

Posted On

2022-02-07