Mutagenetix > Incidental Mutation

Incidental Mutation 'R6697:Znrd2'

528631

Institutional Source

Beutler Lab

Gene Symbol

Znrd2

Ensembl Gene

ENSMUSG00000079478

Gene Name

zinc ribbon domain containing 2

Synonyms

1500016H19Rik, Sssca1, Sjogren's syndrome/scleroderma autoantigen 1 homolog (human)

MMRRC Submission

044815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R6697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5780334-5781760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5780458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 180 (L180P)

Ref Sequence

ENSEMBL: ENSMUSP00000125570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025885] [ENSMUST00000049295] [ENSMUST00000075606] [ENSMUST00000099955] [ENSMUST00000116558] [ENSMUST00000159693] [ENSMUST00000160852] [ENSMUST00000161368]

AlphaFold

P56873

Predicted Effect

probably damaging
Transcript: ENSMUST00000025885
AA Change: L180P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025885
Gene: ENSMUSG00000079478
AA Change: L180P

Domain	Start	End	E-Value	Type
Pfam:Auto_anti-p27	36	74	2.8e-20	PFAM
low complexity region	107	122	N/A	INTRINSIC
low complexity region	127	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049295

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.2e-24	PFAM
low complexity region	245	256	N/A	INTRINSIC
low complexity region	276	291	N/A	INTRINSIC
internal_repeat_1	442	821	1.71e-12	PROSPERO
internal_repeat_1	833	1197	1.71e-12	PROSPERO
CH	1212	1310	3.55e-16	SMART
low complexity region	1316	1331	N/A	INTRINSIC
low complexity region	1426	1449	N/A	INTRINSIC
low complexity region	1471	1484	N/A	INTRINSIC
low complexity region	1493	1547	N/A	INTRINSIC
DUF3585	1552	1696	6.7e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075606

SMART Domains

Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.9e-25	PFAM
CH	268	366	3.55e-16	SMART
low complexity region	372	387	N/A	INTRINSIC
low complexity region	482	505	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
low complexity region	549	603	N/A	INTRINSIC
DUF3585	608	752	6.7e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099955

SMART Domains

Protein: ENSMUSP00000097538
Gene: ENSMUSG00000024939

Domain	Start	End	E-Value	Type
low complexity region	9	37	N/A	INTRINSIC
Pfam:LURAP	70	152	3.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116558

SMART Domains

Protein: ENSMUSP00000112257
Gene: ENSMUSG00000024939

Domain	Start	End	E-Value	Type
low complexity region	9	37	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	100	123	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159008

Predicted Effect

probably benign
Transcript: ENSMUST00000159693

SMART Domains

Protein: ENSMUSP00000123867
Gene: ENSMUSG00000079478

Domain	Start	End	E-Value	Type
Pfam:Auto_anti-p27	33	59	1.5e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160852
AA Change: L180P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125570
Gene: ENSMUSG00000079478
AA Change: L180P

Domain	Start	End	E-Value	Type
Pfam:Auto_anti-p27	36	74	2.8e-20	PFAM
low complexity region	107	122	N/A	INTRINSIC
low complexity region	127	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162976

SMART Domains

Protein: ENSMUSP00000125679
Gene: ENSMUSG00000079478

Domain	Start	End	E-Value	Type
Pfam:Auto_anti-p27	1	28	1.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160141

Predicted Effect

probably benign
Transcript: ENSMUST00000161368

SMART Domains

Protein: ENSMUSP00000124294
Gene: ENSMUSG00000024939

Domain	Start	End	E-Value	Type
low complexity region	9	37	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	110	130	N/A	INTRINSIC
low complexity region	138	155	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,281,870 (GRCm39)	S562*	probably null	Het
Arhgap9	T	C	10: 127,157,989 (GRCm39)	F2S	probably benign	Het
C2cd6	ATGTGGCCTGTCTTCT	A	1: 59,090,247 (GRCm39)		probably benign	Het
Clk1	A	G	1: 58,453,781 (GRCm39)	S298P	probably benign	Het
Col7a1	T	A	9: 108,799,601 (GRCm39)	L1834Q	probably damaging	Het
Dip2c	T	C	13: 9,671,949 (GRCm39)	L1007P	probably damaging	Het
Erich3	G	T	3: 154,469,907 (GRCm39)		probably benign	Het
Fam209	A	G	2: 172,316,123 (GRCm39)	E166G	probably damaging	Het
Fbxl4	A	G	4: 22,376,599 (GRCm39)	T12A	probably benign	Het
Grid2	C	G	6: 63,908,031 (GRCm39)	R224G	possibly damaging	Het
Grin2a	T	C	16: 9,487,704 (GRCm39)	D398G	possibly damaging	Het
Hmx2	T	C	7: 131,157,663 (GRCm39)	L259P	probably damaging	Het
Macc1	A	T	12: 119,410,991 (GRCm39)	R586S	possibly damaging	Het
Map3k14	T	C	11: 103,117,890 (GRCm39)	E634G	probably benign	Het
Mettl21e	G	T	1: 44,249,327 (GRCm39)	L110I	probably damaging	Het
Mgst1	A	G	6: 138,124,751 (GRCm39)	I22V	probably damaging	Het
Muc16	T	C	9: 18,552,587 (GRCm39)	T4569A	probably benign	Het
Neu4	A	G	1: 93,952,752 (GRCm39)	K374E	probably benign	Het
Nufip1	A	G	14: 76,370,513 (GRCm39)	T405A	probably benign	Het
Rilpl2	C	T	5: 124,607,843 (GRCm39)	E126K	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Tial1	G	T	7: 128,046,593 (GRCm39)	Q68K	possibly damaging	Het
Zp1	T	A	19: 10,892,199 (GRCm39)	I62L	probably benign	Het

Other mutations in Znrd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Znrd2	APN	19	5,781,293 (GRCm39)	missense	probably damaging	1.00
IGL03069:Znrd2	APN	19	5,780,450 (GRCm39)	missense	possibly damaging	0.52
R4044:Znrd2	UTSW	19	5,780,431 (GRCm39)	missense	probably damaging	1.00
Z1176:Znrd2	UTSW	19	5,781,729 (GRCm39)	unclassified	probably benign
Z1177:Znrd2	UTSW	19	5,781,483 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCATTCAGGTAGAAAAGACCATG -3'
(R):5'- AGCTGGCCTCATCTACAGAG -3'

Sequencing Primer
(F):5'- CCATGGAAAGGTGAGATGCC -3'
(R):5'- ATCTACAGAGCCTGCCTCGAG -3'

Posted On

2018-07-24