Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03069:Znrd2'

409819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Znrd2

Ensembl Gene

ENSMUSG00000079478

Gene Name

zinc ribbon domain containing 2

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

IGL03069

Quality Score

Status

Chromosome

Chromosomal Location

5780334-5781760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5780450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 183 (L183I)

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

possibly damaging
Transcript: ENSMUST00000025885
AA Change: L183I

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025885
Gene: ENSMUSG00000079478
AA Change: L183I

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

possibly damaging
Transcript: ENSMUST00000160852
AA Change: L183I

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125570
Gene: ENSMUSG00000079478
AA Change: L183I

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

noncoding transcript
Transcript: ENSMUST00000160141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162407

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

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	G	8: 13,607,704 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,197,204 (GRCm39)	E145G	possibly damaging	Het
Ankrd28	T	A	14: 31,477,743 (GRCm39)	K42*	probably null	Het
Arsg	A	T	11: 109,454,082 (GRCm39)	K429N	probably damaging	Het
Bsn	G	A	9: 107,991,462 (GRCm39)	T1430I	probably damaging	Het
Calu	A	G	6: 29,356,582 (GRCm39)	D36G	possibly damaging	Het
Ccdc18	T	C	5: 108,376,767 (GRCm39)	S1403P	probably damaging	Het
Cdca2	A	G	14: 67,952,385 (GRCm39)		probably benign	Het
Cfh	C	A	1: 140,026,793 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,869,537 (GRCm39)	G161S	probably benign	Het
Dennd4c	C	A	4: 86,692,674 (GRCm39)	Y61*	probably null	Het
Diaph3	A	G	14: 87,009,555 (GRCm39)	S1075P	probably damaging	Het
Dpp7	T	A	2: 25,245,735 (GRCm39)		probably null	Het
Dtd1	T	A	2: 144,588,981 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,289,008 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,390,457 (GRCm39)	D344G	probably damaging	Het
Hsp90ab1	A	T	17: 45,879,954 (GRCm39)	C159S	possibly damaging	Het
Kcnip2	T	C	19: 45,784,710 (GRCm39)		probably benign	Het
Krba1	A	G	6: 48,391,483 (GRCm39)	T755A	possibly damaging	Het
L2hgdh	C	T	12: 69,739,173 (GRCm39)	V433I	probably benign	Het
Lamc1	A	T	1: 153,115,127 (GRCm39)	L1050I	probably damaging	Het
Lgals4	A	T	7: 28,540,343 (GRCm39)	I213L	probably benign	Het
Lysmd1	A	G	3: 95,044,945 (GRCm39)	I64V	probably damaging	Het
Mfsd4b4	A	C	10: 39,768,311 (GRCm39)	C261G	probably benign	Het
Mrgprb3	T	A	7: 48,293,198 (GRCm39)	I118F	possibly damaging	Het
Mtmr2	T	A	9: 13,704,501 (GRCm39)	Y137*	probably null	Het
Ofcc1	A	T	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Omd	A	T	13: 49,745,870 (GRCm39)		probably benign	Het
Or5d46	C	T	2: 88,170,643 (GRCm39)		probably null	Het
Or8g21	A	T	9: 38,906,728 (GRCm39)	M1K	probably null	Het
Polr3a	T	A	14: 24,511,808 (GRCm39)	D916V	probably damaging	Het
Prpf38a	T	C	4: 108,432,628 (GRCm39)	Y117C	probably damaging	Het
Scn11a	C	T	9: 119,619,029 (GRCm39)	G771D	probably benign	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Snx1	T	A	9: 66,001,906 (GRCm39)	I306F	probably benign	Het
Snx31	T	A	15: 36,525,749 (GRCm39)	R317*	probably null	Het
Sorl1	T	C	9: 41,902,722 (GRCm39)	T1612A	probably benign	Het
Spag1	G	T	15: 36,224,245 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,538,914 (GRCm39)	F162S	probably damaging	Het
Tkfc	T	A	19: 10,576,518 (GRCm39)	M122L	probably benign	Het
Tnni3k	T	A	3: 154,647,242 (GRCm39)		probably null	Het
Trim56	T	C	5: 137,142,616 (GRCm39)	Q300R	probably damaging	Het
Ttc24	T	A	3: 87,977,408 (GRCm39)	T113S	probably benign	Het
Xirp2	A	T	2: 67,339,876 (GRCm39)	T706S	possibly damaging	Het
Yipf5	T	A	18: 40,339,290 (GRCm39)		probably benign	Het
Zfp202	T	C	9: 40,122,695 (GRCm39)	S486P	probably damaging	Het
Zfp407	A	G	18: 84,369,100 (GRCm39)	S1676P	probably damaging	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
R4044:Znrd2	UTSW	19	5,780,431 (GRCm39)	missense	probably damaging	1.00
R6697:Znrd2	UTSW	19	5,780,458 (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

Posted On

2016-08-02