Mutagenetix > Incidental Mutation

Incidental Mutation 'R7079:Zscan21'

549412

Institutional Source

Beutler Lab

Gene Symbol

Zscan21

Ensembl Gene

ENSMUSG00000037017

Gene Name

zinc finger and SCAN domain containing 21

Synonyms

RU49, Zfp-38, Zfp38, Zipro1, CTfin51

MMRRC Submission

045173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7079 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138115165-138132527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 138124728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 215 (P215S)

Ref Sequence

ENSEMBL: ENSMUSP00000053430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062350] [ENSMUST00000080732] [ENSMUST00000110959] [ENSMUST00000110960] [ENSMUST00000110961] [ENSMUST00000136425]

AlphaFold

Q07231

Predicted Effect

probably benign
Transcript: ENSMUST00000062350
AA Change: P215S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000053430
Gene: ENSMUSG00000037017
AA Change: P215S

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080732
AA Change: P215S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079557
Gene: ENSMUSG00000037017
AA Change: P215S

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110959
AA Change: P215S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106584
Gene: ENSMUSG00000037017
AA Change: P215S

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110960
AA Change: P215S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106585
Gene: ENSMUSG00000037017
AA Change: P215S

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110961
AA Change: P215S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106586
Gene: ENSMUSG00000037017
AA Change: P215S

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136425

SMART Domains

Protein: ENSMUSP00000119570
Gene: ENSMUSG00000037017

Domain	Start	End	E-Value	Type
internal_repeat_1	18	58	3.16e-6	PROSPERO
Pfam:SCAN	116	160	2.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142185
AA Change: P36S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (50/51)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation appear to be phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,402,323 (GRCm39)	L405S	possibly damaging	Het
2310009B15Rik	T	A	1: 138,779,865 (GRCm39)	Q129L	possibly damaging	Het
4921509C19Rik	T	G	2: 151,315,198 (GRCm39)	D160A	probably damaging	Het
Aspn	A	G	13: 49,720,031 (GRCm39)	Y349C	probably damaging	Het
Atp2b1	A	G	10: 98,854,595 (GRCm39)	T1063A	probably benign	Het
BC035947	T	C	1: 78,474,552 (GRCm39)	E660G	probably damaging	Het
Cadps2	A	G	6: 23,323,408 (GRCm39)	L970P	probably damaging	Het
Caskin1	T	C	17: 24,717,858 (GRCm39)	I215T	probably benign	Het
Cort	C	G	4: 149,211,848 (GRCm39)	G85R	probably benign	Het
Cyp1a2	T	C	9: 57,589,161 (GRCm39)	I218V	probably benign	Het
Egfem1	T	A	3: 29,207,731 (GRCm39)	H140Q	probably benign	Het
Elapor2	A	G	5: 9,449,253 (GRCm39)	Y127C	probably damaging	Het
Fbln5	G	A	12: 101,723,667 (GRCm39)	P345S	probably damaging	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Gfpt2	G	A	11: 49,728,578 (GRCm39)	V679I	possibly damaging	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Grm1	T	C	10: 10,955,702 (GRCm39)	D194G	probably damaging	Het
Hectd1	G	A	12: 51,834,638 (GRCm39)	T875M	possibly damaging	Het
Hey2	T	A	10: 30,710,382 (GRCm39)	I124F	probably benign	Het
Hhat	T	C	1: 192,235,354 (GRCm39)	H434R	possibly damaging	Het
Itpripl2	A	G	7: 118,090,092 (GRCm39)	F156L	possibly damaging	Het
Kctd11	A	G	11: 69,770,847 (GRCm39)	Y64H	probably damaging	Het
Lmln	T	C	16: 32,887,661 (GRCm39)	L97P	probably benign	Het
Lrrc30	T	C	17: 67,939,016 (GRCm39)	D188G	possibly damaging	Het
Mmd	T	A	11: 90,158,325 (GRCm39)		probably null	Het
Nav3	G	A	10: 109,603,153 (GRCm39)	S1132L	probably benign	Het
Or1l4	C	A	2: 37,092,185 (GRCm39)	H311N	probably benign	Het
Or4c101	C	A	2: 88,389,853 (GRCm39)	N2K	probably damaging	Het
Or52ab7	C	T	7: 102,978,391 (GRCm39)	R233C	probably benign	Het
Pcdh15	A	G	10: 74,152,957 (GRCm39)	T421A	probably benign	Het
Pfkm	G	A	15: 97,992,963 (GRCm39)	R7H	probably benign	Het
Psme2b	A	G	11: 48,836,443 (GRCm39)	F168S	probably damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn13	T	C	5: 103,649,752 (GRCm39)	V385A	probably benign	Het
Reep5	G	A	18: 34,480,176 (GRCm39)	T189I	probably damaging	Het
Sacm1l	T	A	9: 123,399,062 (GRCm39)	Y272N	probably damaging	Het
Slc26a6	T	A	9: 108,735,147 (GRCm39)	H348Q	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spata31f1a	T	C	4: 42,851,718 (GRCm39)	E146G	probably benign	Het
Stkld1	A	G	2: 26,839,359 (GRCm39)	I342V	probably benign	Het
Trim23	A	T	13: 104,323,801 (GRCm39)		probably null	Het
Trmt13	T	C	3: 116,376,480 (GRCm39)	T304A	probably benign	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Ubqln3	A	T	7: 103,790,578 (GRCm39)	I504K	probably benign	Het
Uhrf2	T	G	19: 30,060,190 (GRCm39)	N519K	probably null	Het
Wdr93	T	C	7: 79,399,040 (GRCm39)	M58T	probably damaging	Het
Wwc2	G	A	8: 48,300,580 (GRCm39)	T961M	unknown	Het
Zfp35	C	T	18: 24,136,357 (GRCm39)	H234Y	possibly damaging	Het

Other mutations in Zscan21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Zscan21	APN	5	138,131,310 (GRCm39)	nonsense	probably null
IGL02348:Zscan21	APN	5	138,131,645 (GRCm39)	missense	probably damaging	0.99
IGL03295:Zscan21	APN	5	138,123,540 (GRCm39)	missense	possibly damaging	0.85
R0454:Zscan21	UTSW	5	138,131,865 (GRCm39)	missense	possibly damaging	0.77
R0471:Zscan21	UTSW	5	138,123,402 (GRCm39)	missense	probably benign	0.33
R1465:Zscan21	UTSW	5	138,123,470 (GRCm39)	missense	probably benign	0.18
R1465:Zscan21	UTSW	5	138,123,470 (GRCm39)	missense	probably benign	0.18
R1860:Zscan21	UTSW	5	138,124,892 (GRCm39)	missense	probably benign	0.00
R5498:Zscan21	UTSW	5	138,131,522 (GRCm39)	missense	probably benign
R5851:Zscan21	UTSW	5	138,124,740 (GRCm39)	missense	probably benign	0.39
R6213:Zscan21	UTSW	5	138,123,359 (GRCm39)	missense	probably benign	0.09
R7448:Zscan21	UTSW	5	138,116,110 (GRCm39)	start gained	probably benign
R8436:Zscan21	UTSW	5	138,116,178 (GRCm39)	missense	unknown
R9116:Zscan21	UTSW	5	138,123,937 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCTGGATATGTTTCTCCCTATTG -3'
(R):5'- AGTGACCTCTCAACTGGAGC -3'

Sequencing Primer
(F):5'- TGTCTGCTCTTATCTTGAAATAACC -3'
(R):5'- GTGACCTCTCAACTGGAGCTATAG -3'

Posted On

2019-05-15