Mutagenetix > Incidental Mutation

Incidental Mutation 'R4044:Znrd2'

314007

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

040967-MU

Accession Numbers

Essential gene?

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

Stock #

R4044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5780334-5781760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5780431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 189 (E189G)

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: E189G

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

SMART Domains

Protein: ENSMUSP00000025885
Gene: ENSMUSG00000079478
AA Change: E189G

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

noncoding transcript
Transcript: ENSMUST00000160141

Predicted Effect

probably damaging
Transcript: ENSMUST00000160852
AA Change: E189G

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

SMART Domains

Protein: ENSMUSP00000125570
Gene: ENSMUSG00000079478
AA Change: E189G

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: 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

Meta Mutation Damage Score

0.1022

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (45/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	A	9: 89,044,347 (GRCm39)		noncoding transcript	Het
Ada	A	T	2: 163,577,380 (GRCm39)	I36N	probably damaging	Het
Armh3	A	T	19: 45,808,763 (GRCm39)	Y643N	probably damaging	Het
Atg7	T	C	6: 114,678,939 (GRCm39)	V384A	probably benign	Het
Ccl1	T	A	11: 82,070,519 (GRCm39)	I18L	probably benign	Het
Cep70	T	A	9: 99,144,662 (GRCm39)	C66S	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,894 (GRCm39)	D14E	probably damaging	Het
Dnah9	T	C	11: 66,024,461 (GRCm39)	K278E	probably benign	Het
Dsg1a	C	A	18: 20,457,087 (GRCm39)	N153K	probably damaging	Het
Galnt5	T	A	2: 57,888,472 (GRCm39)	I24N	probably damaging	Het
Grid1	A	T	14: 35,172,358 (GRCm39)		probably benign	Het
Gtf2a1	T	C	12: 91,542,441 (GRCm39)	H47R	probably benign	Het
Igf1r	A	G	7: 67,839,810 (GRCm39)	T706A	possibly damaging	Het
Itih4	A	T	14: 30,616,995 (GRCm39)	N517I	probably damaging	Het
Jam3	C	A	9: 27,013,159 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,467,913 (GRCm39)	I1366V	probably benign	Het
Klk1b4	A	G	7: 43,860,179 (GRCm39)	M98V	probably benign	Het
Kndc1	A	G	7: 139,504,044 (GRCm39)	E1116G	probably benign	Het
Ksr2	C	T	5: 117,693,127 (GRCm39)	R192*	probably null	Het
L3mbtl4	T	C	17: 69,084,909 (GRCm39)	S607P	possibly damaging	Het
Map6	T	C	7: 98,917,256 (GRCm39)	C10R	probably damaging	Het
Myo3a	A	G	2: 22,467,712 (GRCm39)	E322G	probably damaging	Het
Nell1	A	G	7: 49,869,367 (GRCm39)	N214S	probably damaging	Het
Npm3	T	C	19: 45,736,692 (GRCm39)	E149G	possibly damaging	Het
Or4k35	C	T	2: 111,099,927 (GRCm39)	V262I	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Orc3	G	A	4: 34,587,055 (GRCm39)	Q345*	probably null	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pals1	G	A	12: 78,871,613 (GRCm39)	E398K	probably benign	Het
Pramel26	T	A	4: 143,538,170 (GRCm39)	N267I	probably benign	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Het
Reln	A	T	5: 22,333,630 (GRCm39)	V264D	possibly damaging	Het
Rpp40	A	G	13: 36,082,549 (GRCm39)	C275R	probably benign	Het
Scaf1	G	A	7: 44,655,798 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,040,475 (GRCm39)	T890A	probably benign	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Thada	A	G	17: 84,749,135 (GRCm39)	V612A	probably benign	Het
Tsnaxip1	G	A	8: 106,560,177 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Vrtn	T	C	12: 84,695,844 (GRCm39)	I198T	probably damaging	Het
Wnt9b	T	C	11: 103,622,824 (GRCm39)	D193G	probably damaging	Het
Zswim5	A	G	4: 116,843,899 (GRCm39)	D979G	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
IGL03069:Znrd2	APN	19	5,780,450 (GRCm39)	missense	possibly damaging	0.52
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

Predicted Primers

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

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

Posted On

2015-04-30