Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Cwc27'

500885

Institutional Source

Beutler Lab

Gene Symbol

Cwc27

Ensembl Gene

ENSMUSG00000021715

Gene Name

CWC27 spliceosome-associated protein

Synonyms

3110009E13Rik, NY-CO-10, Sdccag10

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104631140-104817142 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104804353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 166 (V166D)

Ref Sequence

ENSEMBL: ENSMUSP00000022228 (fasta)

Gene Model

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

AlphaFold

Q3TKY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022228
AA Change: V166D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: V166D

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

noncoding transcript
Transcript: ENSMUST00000145661

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,281,650 (GRCm38)	I234T	probably damaging	Het
Adam24	A	G	8: 40,679,511 (GRCm38)	E6G	probably damaging	Het
Amz1	A	G	5: 140,744,164 (GRCm38)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,841,335 (GRCm38)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,532,864 (GRCm38)	N8T	probably benign	Het
Arsi	T	G	18: 60,917,439 (GRCm38)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,448,825 (GRCm38)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,104,351 (GRCm38)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,096,581 (GRCm38)	T77I	probably benign	Het
Camsap1	G	T	2: 25,935,550 (GRCm38)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,397,123 (GRCm38)		probably null	Het
Cd163	T	C	6: 124,317,989 (GRCm38)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,717,684 (GRCm38)		probably null	Het
Cfi	C	T	3: 129,873,077 (GRCm38)	P483L	probably damaging	Het
Chn2	C	T	6: 54,218,561 (GRCm38)	L72F	possibly damaging	Het
Cntn2	C	A	1: 132,517,060 (GRCm38)	E363*	probably null	Het
Crebbp	T	C	16: 4,093,511 (GRCm38)	E999G	probably damaging	Het
Cspp1	T	A	1: 10,126,463 (GRCm38)	N900K	probably damaging	Het
Cts3	A	C	13: 61,567,595 (GRCm38)	I141M	probably benign	Het
Defb26	T	C	2: 152,508,165 (GRCm38)	E65G	possibly damaging	Het
Dnah8	A	G	17: 30,810,353 (GRCm38)	T4099A	probably benign	Het
Eml6	A	G	11: 29,744,606 (GRCm38)	F1953L	probably benign	Het
Etl4	T	A	2: 20,340,111 (GRCm38)		probably null	Het
Fbln1	A	G	15: 85,237,671 (GRCm38)	E331G	probably damaging	Het
Gabra4	G	A	5: 71,572,203 (GRCm38)	H76Y	probably benign	Het
Gcat	T	C	15: 79,035,282 (GRCm38)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,722,100 (GRCm38)		probably null	Het
Gm572	T	C	4: 148,666,845 (GRCm38)		probably null	Het
Golgb1	T	C	16: 36,919,258 (GRCm38)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,646,144 (GRCm38)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,223,301 (GRCm38)	I533L	probably damaging	Het
Gypa	A	T	8: 80,496,348 (GRCm38)	Y27F	unknown	Het
Hipk4	G	A	7: 27,529,492 (GRCm38)	V456I	probably benign	Het
Homer2	A	T	7: 81,649,563 (GRCm38)	D51E	probably benign	Het
Hspa1b	A	T	17: 34,958,004 (GRCm38)	V335E	possibly damaging	Het
Ift122	A	G	6: 115,912,534 (GRCm38)	T827A	probably benign	Het
Igkv1-35	T	C	6: 70,011,135 (GRCm38)	N58S	probably benign	Het
Kat6b	A	T	14: 21,619,258 (GRCm38)	H297L	probably damaging	Het
Kirrel3	G	T	9: 35,013,305 (GRCm38)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,230,625 (GRCm38)	V525A	probably benign	Het
Lrrn1	G	T	6: 107,569,207 (GRCm38)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,753,227 (GRCm38)	N256D	probably damaging	Het
Mill2	G	A	7: 18,856,666 (GRCm38)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,368 (GRCm38)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,389,596 (GRCm38)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,676,546 (GRCm38)	K415*	probably null	Het
Myb	T	A	10: 21,126,238 (GRCm38)	M616L	probably benign	Het
Myo15b	C	T	11: 115,886,054 (GRCm38)	R867W	probably damaging	Het
Myo18b	A	T	5: 112,874,480 (GRCm38)		probably benign	Het
Nip7	A	G	8: 107,056,957 (GRCm38)	E8G	possibly damaging	Het
Olfr1318	A	T	2: 112,156,286 (GRCm38)	M112L	possibly damaging	Het
Olfr368	T	G	2: 37,332,589 (GRCm38)	F281V	probably damaging	Het
Olfr38	T	A	6: 42,762,997 (GRCm38)	L315*	probably null	Het
Olfr677	A	G	7: 105,056,482 (GRCm38)	T79A	possibly damaging	Het
Olfr711	T	C	7: 106,972,231 (GRCm38)	I38V	probably benign	Het
Optn	T	A	2: 5,046,106 (GRCm38)	I155F	probably benign	Het
Papolb	A	T	5: 142,528,837 (GRCm38)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,838,627 (GRCm38)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,321,117 (GRCm38)	N183K	probably benign	Het
Pde12	G	T	14: 26,669,422 (GRCm38)	S44*	probably null	Het
Peg3	T	C	7: 6,710,289 (GRCm38)	K645E	probably benign	Het
Pkd1	C	T	17: 24,573,463 (GRCm38)	R1375C	probably benign	Het
Plekha5	G	A	6: 140,579,474 (GRCm38)	E21K	probably damaging	Het
Plk2	C	T	13: 110,399,424 (GRCm38)	P554L	probably benign	Het
Pnkp	C	T	7: 44,862,403 (GRCm38)	S113L	probably damaging	Het
Polg	A	T	7: 79,464,605 (GRCm38)	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,421,163 (GRCm38)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,195,805 (GRCm38)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,370,095 (GRCm38)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,996,653 (GRCm38)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,636,043 (GRCm38)	H399Q	probably benign	Het
Psg25	T	A	7: 18,526,536 (GRCm38)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,960,429 (GRCm38)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,550,756 (GRCm38)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,399,566 (GRCm38)	F144S	probably damaging	Het
Rfwd3	A	C	8: 111,282,753 (GRCm38)		probably null	Het
Rhpn1	T	C	15: 75,709,260 (GRCm38)	I117T	probably damaging	Het
Sars2	A	T	7: 28,747,908 (GRCm38)	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,902,887 (GRCm38)	H256L	probably benign	Het
Sgcz	G	A	8: 37,539,667 (GRCm38)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,379,257 (GRCm38)	H157Q	probably benign	Het
Spen	T	A	4: 141,476,099 (GRCm38)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm38)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,385,444 (GRCm38)	E1482G	possibly damaging	Het
Tex15	A	T	8: 33,571,766 (GRCm38)	K408I	probably damaging	Het
Tex33	C	T	15: 78,386,173 (GRCm38)	E132K	probably benign	Het
Trem1	T	A	17: 48,232,836 (GRCm38)	F14L	probably null	Het
Trim26	G	T	17: 36,851,066 (GRCm38)	E126*	probably null	Het
Trpv3	T	C	11: 73,277,834 (GRCm38)		probably null	Het
Ttn	T	A	2: 76,916,491 (GRCm38)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm38)	L301F	probably benign	Het
Uchl1	T	C	5: 66,676,437 (GRCm38)	M12T	probably benign	Het
Vill	C	T	9: 119,070,025 (GRCm38)	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,355,753 (GRCm38)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,053,553 (GRCm38)	S21P	probably benign	Het
Wapl	A	G	14: 34,677,162 (GRCm38)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,126 (GRCm38)	K175E	possibly damaging	Het
Zfp592	T	C	7: 81,023,561 (GRCm38)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,932,507 (GRCm38)		probably null	Het
Zglp1	A	T	9: 21,062,661 (GRCm38)	I243N	probably benign	Het
Zranb1	A	G	7: 132,950,187 (GRCm38)	E215G	probably benign	Het

Other mutations in Cwc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01955:Cwc27	APN	13	104,807,737 (GRCm38)	missense	probably damaging	1.00
IGL02240:Cwc27	APN	13	104,806,643 (GRCm38)	missense	probably damaging	0.97
IGL02398:Cwc27	APN	13	104,804,254 (GRCm38)	missense	possibly damaging	0.82
IGL02620:Cwc27	APN	13	104,802,206 (GRCm38)	splice site	probably benign
IGL03213:Cwc27	APN	13	104,796,403 (GRCm38)	splice site	probably benign
pam1	UTSW	13	104,661,357 (GRCm38)	nonsense	probably null
R0375:Cwc27	UTSW	13	104,807,823 (GRCm38)	missense	possibly damaging	0.94
R0483:Cwc27	UTSW	13	104,811,216 (GRCm38)	critical splice donor site	probably null
R0534:Cwc27	UTSW	13	104,631,616 (GRCm38)	missense	unknown
R0550:Cwc27	UTSW	13	104,804,949 (GRCm38)	missense	probably damaging	1.00
R0562:Cwc27	UTSW	13	104,661,357 (GRCm38)	nonsense	probably null
R0563:Cwc27	UTSW	13	104,661,357 (GRCm38)	nonsense	probably null
R0564:Cwc27	UTSW	13	104,661,357 (GRCm38)	nonsense	probably null
R0972:Cwc27	UTSW	13	104,661,357 (GRCm38)	nonsense	probably null
R1536:Cwc27	UTSW	13	104,797,306 (GRCm38)	missense	probably damaging	1.00
R1546:Cwc27	UTSW	13	104,802,185 (GRCm38)	missense	probably damaging	1.00
R1587:Cwc27	UTSW	13	104,792,637 (GRCm38)	missense	probably benign	0.00
R1934:Cwc27	UTSW	13	104,631,676 (GRCm38)	missense	probably benign	0.28
R2159:Cwc27	UTSW	13	104,804,329 (GRCm38)	missense	probably damaging	0.98
R2249:Cwc27	UTSW	13	104,631,622 (GRCm38)	missense	unknown
R2252:Cwc27	UTSW	13	104,631,729 (GRCm38)	missense	probably damaging	1.00
R2394:Cwc27	UTSW	13	104,796,434 (GRCm38)	missense	probably benign	0.01
R2698:Cwc27	UTSW	13	104,806,751 (GRCm38)	missense	probably damaging	0.99
R3899:Cwc27	UTSW	13	104,792,515 (GRCm38)	nonsense	probably null
R6317:Cwc27	UTSW	13	104,804,261 (GRCm38)	nonsense	probably null
R6763:Cwc27	UTSW	13	104,811,301 (GRCm38)	missense	probably damaging	1.00
R7187:Cwc27	UTSW	13	104,661,392 (GRCm38)	missense	probably benign	0.01
R7958:Cwc27	UTSW	13	104,804,964 (GRCm38)	missense	probably benign	0.01
R8465:Cwc27	UTSW	13	104,804,268 (GRCm38)	missense	possibly damaging	0.49
R8465:Cwc27	UTSW	13	104,804,264 (GRCm38)	missense	probably benign
R8466:Cwc27	UTSW	13	104,804,268 (GRCm38)	missense	possibly damaging	0.49
R8466:Cwc27	UTSW	13	104,804,264 (GRCm38)	missense	probably benign
R8483:Cwc27	UTSW	13	104,804,268 (GRCm38)	missense	possibly damaging	0.49
R8483:Cwc27	UTSW	13	104,804,264 (GRCm38)	missense	probably benign
R8485:Cwc27	UTSW	13	104,804,268 (GRCm38)	missense	possibly damaging	0.49
R8485:Cwc27	UTSW	13	104,804,264 (GRCm38)	missense	probably benign
R9320:Cwc27	UTSW	13	104,797,291 (GRCm38)	missense	probably benign
R9710:Cwc27	UTSW	13	104,806,650 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAAGACCGACTGACTAAG -3'
(R):5'- AATGTCTGTCTGGGGCCTTAC -3'

Sequencing Primer
(F):5'- CTAAGTCAGTGTCCCAAGTAAAGTG -3'
(R):5'- CCTTCCATAAAATAGGTATCAGGGAG -3'

Posted On

2017-12-01