Mutagenetix > Incidental Mutation

Incidental Mutation 'R8485:Cwc27'

657700

Institutional Source

Beutler Lab

Gene Symbol

Cwc27

Ensembl Gene

ENSMUSG00000021715

Gene Name

CWC27 spliceosome-associated protein

Synonyms

NY-CO-10, 3110009E13Rik, Sdccag10

MMRRC Submission

067928-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8485 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104767648-104953649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104940776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 194 (L194F)

Ref Sequence

ENSEMBL: ENSMUSP00000022228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022228] [ENSMUST00000154165]

AlphaFold

Q3TKY6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022228
AA Change: L194F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: L194F

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	166	3.4e-47	PFAM
low complexity region	176	197	N/A	INTRINSIC
low complexity region	209	217	N/A	INTRINSIC
coiled coil region	309	341	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154165

SMART Domains

Protein: ENSMUSP00000119076
Gene: ENSMUSG00000021715

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	82	1.3e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibit reduced viability. Surviors after birth show signs of growth retardation and retinal depigmentation, along with numerous neurological, immunological, and blood chemistry abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	A	G	3: 97,066,302 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,886,794 (GRCm39)	T999A	possibly damaging	Het
Adgrb1	A	C	15: 74,420,153 (GRCm39)	T829P	probably damaging	Het
Ankrd12	C	T	17: 66,290,711 (GRCm39)	S1574N	probably benign	Het
Ankrd2	G	A	19: 42,030,384 (GRCm39)		probably null	Het
Ano3	T	A	2: 110,498,200 (GRCm39)		probably null	Het
Arhgap18	T	C	10: 26,722,104 (GRCm39)	I25T	probably benign	Het
Armc3	T	C	2: 19,297,945 (GRCm39)	F572S	probably damaging	Het
Aspdh	G	T	7: 44,117,093 (GRCm39)	G165W	probably damaging	Het
Btnl10	G	T	11: 58,811,142 (GRCm39)	R155L	possibly damaging	Het
Cacng7	A	G	7: 3,414,541 (GRCm39)	E168G	probably benign	Het
Cadps	G	A	14: 12,439,872 (GRCm38)	T1215M	probably damaging	Het
Cbfa2t3	C	A	8: 123,357,517 (GRCm39)	G598C	probably damaging	Het
Cdh15	T	C	8: 123,584,105 (GRCm39)	S69P	probably damaging	Het
Dlec1	T	G	9: 118,957,659 (GRCm39)	V881G	probably benign	Het
Dnah7c	A	C	1: 46,719,952 (GRCm39)	D2801A	probably benign	Het
Efhc1	T	C	1: 21,030,460 (GRCm39)	M131T	possibly damaging	Het
Ercc2	G	A	7: 19,122,165 (GRCm39)	V386I	possibly damaging	Het
Exoc4	T	A	6: 33,898,436 (GRCm39)	I885N	probably damaging	Het
Fbxl22	C	T	9: 66,421,849 (GRCm39)		probably null	Het
Flii	G	T	11: 60,607,063 (GRCm39)	A971E	probably benign	Het
Fnip2	T	A	3: 79,388,844 (GRCm39)	E599V	probably benign	Het
Glb1l2	G	A	9: 26,679,036 (GRCm39)	L453F	probably benign	Het
Gm49368	C	T	7: 127,711,611 (GRCm39)	P624L	probably damaging	Het
Gpa33	T	A	1: 165,992,261 (GRCm39)	D268E	probably benign	Het
Gpi1	A	T	7: 33,918,677 (GRCm39)		probably null	Het
Iqgap2	T	C	13: 95,796,659 (GRCm39)	N1165S	probably damaging	Het
Irag2	A	T	6: 145,117,400 (GRCm39)	N379I	probably damaging	Het
Kctd2	G	T	11: 115,320,434 (GRCm39)		probably benign	Het
L1td1	C	T	4: 98,625,911 (GRCm39)	A702V	probably damaging	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Mycbpap	A	G	11: 94,402,534 (GRCm39)	L267P	probably damaging	Het
Mycbpap	T	C	11: 94,405,359 (GRCm39)	R57G	probably benign	Het
Myo1b	A	C	1: 51,818,760 (GRCm39)	L505R	probably damaging	Het
Nfatc2	A	C	2: 168,432,012 (GRCm39)	F34V	probably damaging	Het
Nphs1	A	G	7: 30,165,598 (GRCm39)	N655S	probably damaging	Het
Nsd2	A	T	5: 34,040,189 (GRCm39)	I909F	probably damaging	Het
Or10ag60	A	T	2: 87,438,601 (GRCm39)	M290L	probably benign	Het
Or8b37	T	A	9: 37,959,253 (GRCm39)	M245K	probably benign	Het
Pak2	G	A	16: 31,871,083 (GRCm39)	A33V	probably benign	Het
Phb1	A	G	11: 95,566,055 (GRCm39)	D113G	probably benign	Het
Pkhd1	T	A	1: 20,593,257 (GRCm39)	I1619F	probably damaging	Het
Pkhd1l1	A	G	15: 44,423,796 (GRCm39)	I3113V	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Prrc2b	T	A	2: 32,102,105 (GRCm39)	M726K	possibly damaging	Het
Rai14	A	G	15: 10,575,122 (GRCm39)	L612P	probably damaging	Het
Rapgef1	T	C	2: 29,600,186 (GRCm39)	S598P	probably damaging	Het
Rdm1	G	A	11: 101,518,816 (GRCm39)	V8I	probably benign	Het
Rrbp1	A	G	2: 143,796,933 (GRCm39)	F1148L	probably benign	Het
Slc12a2	T	C	18: 58,074,218 (GRCm39)		probably null	Het
Slc7a8	T	A	14: 54,962,264 (GRCm39)	T457S	probably benign	Het
Stk32a	T	A	18: 43,376,075 (GRCm39)	M48K	possibly damaging	Het
Svil	T	C	18: 5,064,566 (GRCm39)	S642P	probably benign	Het
Taok3	G	A	5: 117,389,142 (GRCm39)	V516M	possibly damaging	Het
Ugdh	T	C	5: 65,584,902 (GRCm39)	I7V	possibly damaging	Het
Zc3h11a	T	A	1: 133,553,633 (GRCm39)	S504C	possibly damaging	Het
Zfp512	C	T	5: 31,637,401 (GRCm39)	R497W	probably damaging	Het

Other mutations in Cwc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01955:Cwc27	APN	13	104,944,245 (GRCm39)	missense	probably damaging	1.00
IGL02240:Cwc27	APN	13	104,943,151 (GRCm39)	missense	probably damaging	0.97
IGL02398:Cwc27	APN	13	104,940,762 (GRCm39)	missense	possibly damaging	0.82
IGL02620:Cwc27	APN	13	104,938,714 (GRCm39)	splice site	probably benign
IGL03213:Cwc27	APN	13	104,932,911 (GRCm39)	splice site	probably benign
pam1	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R0375:Cwc27	UTSW	13	104,944,331 (GRCm39)	missense	possibly damaging	0.94
R0483:Cwc27	UTSW	13	104,947,724 (GRCm39)	critical splice donor site	probably null
R0534:Cwc27	UTSW	13	104,768,124 (GRCm39)	missense	unknown
R0550:Cwc27	UTSW	13	104,941,457 (GRCm39)	missense	probably damaging	1.00
R0562:Cwc27	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R0563:Cwc27	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R0564:Cwc27	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R0972:Cwc27	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R1536:Cwc27	UTSW	13	104,933,814 (GRCm39)	missense	probably damaging	1.00
R1546:Cwc27	UTSW	13	104,938,693 (GRCm39)	missense	probably damaging	1.00
R1587:Cwc27	UTSW	13	104,929,145 (GRCm39)	missense	probably benign	0.00
R1934:Cwc27	UTSW	13	104,768,184 (GRCm39)	missense	probably benign	0.28
R2159:Cwc27	UTSW	13	104,940,837 (GRCm39)	missense	probably damaging	0.98
R2249:Cwc27	UTSW	13	104,768,130 (GRCm39)	missense	unknown
R2252:Cwc27	UTSW	13	104,768,237 (GRCm39)	missense	probably damaging	1.00
R2394:Cwc27	UTSW	13	104,932,942 (GRCm39)	missense	probably benign	0.01
R2698:Cwc27	UTSW	13	104,943,259 (GRCm39)	missense	probably damaging	0.99
R3899:Cwc27	UTSW	13	104,929,023 (GRCm39)	nonsense	probably null
R5121:Cwc27	UTSW	13	104,940,861 (GRCm39)	missense	probably damaging	1.00
R6317:Cwc27	UTSW	13	104,940,769 (GRCm39)	nonsense	probably null
R6763:Cwc27	UTSW	13	104,947,809 (GRCm39)	missense	probably damaging	1.00
R7187:Cwc27	UTSW	13	104,797,900 (GRCm39)	missense	probably benign	0.01
R7958:Cwc27	UTSW	13	104,941,472 (GRCm39)	missense	probably benign	0.01
R8465:Cwc27	UTSW	13	104,940,776 (GRCm39)	missense	possibly damaging	0.49
R8465:Cwc27	UTSW	13	104,940,772 (GRCm39)	missense	probably benign
R8466:Cwc27	UTSW	13	104,940,776 (GRCm39)	missense	possibly damaging	0.49
R8466:Cwc27	UTSW	13	104,940,772 (GRCm39)	missense	probably benign
R8483:Cwc27	UTSW	13	104,940,776 (GRCm39)	missense	possibly damaging	0.49
R8483:Cwc27	UTSW	13	104,940,772 (GRCm39)	missense	probably benign
R8485:Cwc27	UTSW	13	104,940,772 (GRCm39)	missense	probably benign
R9320:Cwc27	UTSW	13	104,933,799 (GRCm39)	missense	probably benign
R9710:Cwc27	UTSW	13	104,943,158 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGTTCTCGCCTTCCCAG -3'
(R):5'- TAATGTTGTGGGGCACTCAG -3'

Sequencing Primer
(F):5'- GCCTTCCCAGAGTCTTTATACTAAGG -3'
(R):5'- GATGCTGATATTAGAAAACTTCAGGG -3'

Posted On

2021-01-18