Mutagenetix > Incidental Mutation

Incidental Mutation 'R4692:Cwf19l2'

354977

Institutional Source

Beutler Lab

Gene Symbol

Cwf19l2

Ensembl Gene

ENSMUSG00000025898

Gene Name

CWF19 like cell cycle control factor 2

Synonyms

3230401L03Rik

MMRRC Submission

041943-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R4692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3403592-3479236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3428709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 232 (S232P)

Ref Sequence

ENSEMBL: ENSMUSP00000027027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027027]

AlphaFold

Q8BG79

Predicted Effect

probably damaging
Transcript: ENSMUST00000027027
AA Change: S232P

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

SMART Domains

Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: S232P

Domain	Start	End	E-Value	Type
low complexity region	64	114	N/A	INTRINSIC
coiled coil region	165	196	N/A	INTRINSIC
low complexity region	403	418	N/A	INTRINSIC
coiled coil region	496	524	N/A	INTRINSIC
Pfam:CwfJ_C_1	655	779	1.8e-40	PFAM
Pfam:CwfJ_C_2	788	882	4.6e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212128

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,849,882 (GRCm39)	Y230*	probably null	Het
9230104M06Rik	A	T	12: 112,963,692 (GRCm39)		probably benign	Het
Arhgap20	A	G	9: 51,697,088 (GRCm39)	D53G	probably damaging	Het
Arl2	T	C	19: 6,187,776 (GRCm39)	T54A	probably damaging	Het
Baz2a	G	A	10: 127,960,762 (GRCm39)	G1521S	probably damaging	Het
Begain	A	G	12: 108,999,818 (GRCm39)	S523P	probably damaging	Het
Car10	T	C	11: 93,075,984 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,922,140 (GRCm39)	I66V	probably benign	Het
Col14a1	T	A	15: 55,286,864 (GRCm39)	V895E	unknown	Het
Coro1b	T	C	19: 4,199,418 (GRCm39)	Y26H	probably damaging	Het
Crebbp	T	C	16: 3,932,727 (GRCm39)	E1017G	possibly damaging	Het
Cyp7b1	T	A	3: 18,126,728 (GRCm39)	I473F	probably damaging	Het
Efcab5	A	T	11: 77,004,507 (GRCm39)	I937N	probably damaging	Het
Fam53c	A	C	18: 34,901,743 (GRCm39)	E220A	probably damaging	Het
Gsn	A	G	2: 35,188,883 (GRCm39)	Y434C	probably damaging	Het
Igkv2-137	T	C	6: 67,532,971 (GRCm39)	S45P	possibly damaging	Het
Katnip	T	C	7: 125,466,841 (GRCm39)		probably null	Het
Kif13b	C	A	14: 65,041,024 (GRCm39)	T1704K	probably benign	Het
Mapk7	A	G	11: 61,380,068 (GRCm39)	S697P	possibly damaging	Het
Mrgpra1	T	A	7: 46,985,446 (GRCm39)	I78F	probably damaging	Het
N6amt1	T	C	16: 87,153,854 (GRCm39)	V97A	possibly damaging	Het
Oas3	T	C	5: 120,907,420 (GRCm39)	T406A	probably benign	Het
Or4f61	A	G	2: 111,923,026 (GRCm39)	S7P	probably damaging	Het
Or8c17	C	T	9: 38,179,826 (GRCm39)	Q6*	probably null	Het
Paxip1	T	C	5: 27,977,095 (GRCm39)		probably benign	Het
Pfn4	A	T	12: 4,824,486 (GRCm39)	Y71F	probably damaging	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Rbl2	T	A	8: 91,849,047 (GRCm39)	D1084E	probably damaging	Het
Robo1	T	G	16: 72,757,090 (GRCm39)	S350R	probably damaging	Het
Sbno2	A	G	10: 79,922,161 (GRCm39)	V4A	possibly damaging	Het
Sh3rf1	T	C	8: 61,806,888 (GRCm39)		probably null	Het
Smgc	T	C	15: 91,738,764 (GRCm39)	V474A	possibly damaging	Het
Snx13	A	G	12: 35,136,917 (GRCm39)	D126G	possibly damaging	Het
Sox9	C	A	11: 112,673,803 (GRCm39)	H131Q	probably benign	Het
Spag6	T	C	2: 18,704,054 (GRCm39)	I34T	probably benign	Het
Speer2	T	A	16: 69,654,860 (GRCm39)	T202S	possibly damaging	Het
Sspo	T	A	6: 48,459,621 (GRCm39)	C3327S	probably damaging	Het
Vcpip1	G	T	1: 9,818,299 (GRCm39)	A28E	unknown	Het
Vstm5	A	T	9: 15,168,718 (GRCm39)	D94V	probably damaging	Het
Zfp329	T	C	7: 12,544,559 (GRCm39)	K322E	probably damaging	Het
Zfp932	G	A	5: 110,157,052 (GRCm39)	G250D	probably damaging	Het
Zscan26	A	G	13: 21,629,427 (GRCm39)	C359R	probably damaging	Het

Other mutations in Cwf19l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Cwf19l2	APN	9	3,409,990 (GRCm39)	missense	probably benign	0.01
IGL00573:Cwf19l2	APN	9	3,450,161 (GRCm39)	splice site	probably benign
IGL00757:Cwf19l2	APN	9	3,460,054 (GRCm39)	missense	probably damaging	1.00
IGL00803:Cwf19l2	APN	9	3,430,810 (GRCm39)	missense	probably benign	0.41
IGL01916:Cwf19l2	APN	9	3,477,869 (GRCm39)	missense	possibly damaging	0.82
IGL02315:Cwf19l2	APN	9	3,410,030 (GRCm39)	missense	probably damaging	1.00
IGL02419:Cwf19l2	APN	9	3,418,777 (GRCm39)	critical splice donor site	probably null
IGL02427:Cwf19l2	APN	9	3,456,817 (GRCm39)	missense	probably benign	0.00
IGL03026:Cwf19l2	APN	9	3,428,777 (GRCm39)	missense	probably benign	0.28
IGL03028:Cwf19l2	APN	9	3,430,622 (GRCm39)	missense	probably benign	0.26
IGL03199:Cwf19l2	APN	9	3,477,830 (GRCm39)	missense	probably damaging	1.00
R0015:Cwf19l2	UTSW	9	3,454,666 (GRCm39)	missense	probably benign	0.00
R0015:Cwf19l2	UTSW	9	3,454,666 (GRCm39)	missense	probably benign	0.00
R0532:Cwf19l2	UTSW	9	3,431,057 (GRCm39)	missense	probably benign	0.38
R0724:Cwf19l2	UTSW	9	3,421,377 (GRCm39)	critical splice donor site	probably null
R0924:Cwf19l2	UTSW	9	3,441,047 (GRCm39)	splice site	probably benign
R0947:Cwf19l2	UTSW	9	3,421,286 (GRCm39)	missense	probably benign	0.16
R1210:Cwf19l2	UTSW	9	3,430,810 (GRCm39)	missense	probably benign	0.00
R1393:Cwf19l2	UTSW	9	3,456,818 (GRCm39)	missense	probably benign	0.01
R1541:Cwf19l2	UTSW	9	3,456,760 (GRCm39)	missense	probably damaging	1.00
R1594:Cwf19l2	UTSW	9	3,430,973 (GRCm39)	missense	probably benign
R1870:Cwf19l2	UTSW	9	3,458,802 (GRCm39)	missense	possibly damaging	0.56
R1950:Cwf19l2	UTSW	9	3,418,674 (GRCm39)	missense	probably benign
R1996:Cwf19l2	UTSW	9	3,417,947 (GRCm39)	missense	probably benign	0.01
R2005:Cwf19l2	UTSW	9	3,430,720 (GRCm39)	missense	possibly damaging	0.92
R2246:Cwf19l2	UTSW	9	3,430,661 (GRCm39)	missense	probably benign	0.16
R2420:Cwf19l2	UTSW	9	3,411,341 (GRCm39)	missense	possibly damaging	0.80
R3051:Cwf19l2	UTSW	9	3,410,006 (GRCm39)	missense	probably benign	0.05
R3738:Cwf19l2	UTSW	9	3,456,803 (GRCm39)	missense	probably benign	0.01
R3915:Cwf19l2	UTSW	9	3,456,776 (GRCm39)	missense	probably damaging	1.00
R4034:Cwf19l2	UTSW	9	3,456,803 (GRCm39)	missense	probably benign	0.01
R4035:Cwf19l2	UTSW	9	3,456,803 (GRCm39)	missense	probably benign	0.01
R4323:Cwf19l2	UTSW	9	3,430,452 (GRCm39)	missense	probably damaging	0.99
R4328:Cwf19l2	UTSW	9	3,458,878 (GRCm39)	missense	probably damaging	1.00
R4329:Cwf19l2	UTSW	9	3,458,878 (GRCm39)	missense	probably damaging	1.00
R4775:Cwf19l2	UTSW	9	3,430,973 (GRCm39)	missense	probably benign
R4779:Cwf19l2	UTSW	9	3,410,035 (GRCm39)	missense	possibly damaging	0.95
R4822:Cwf19l2	UTSW	9	3,458,839 (GRCm39)	missense	probably damaging	1.00
R4833:Cwf19l2	UTSW	9	3,430,783 (GRCm39)	missense	probably benign	0.28
R5110:Cwf19l2	UTSW	9	3,450,012 (GRCm39)	critical splice acceptor site	probably null
R5120:Cwf19l2	UTSW	9	3,418,761 (GRCm39)	nonsense	probably null
R5164:Cwf19l2	UTSW	9	3,475,511 (GRCm39)	missense	probably damaging	1.00
R5440:Cwf19l2	UTSW	9	3,475,549 (GRCm39)	missense	probably damaging	1.00
R5567:Cwf19l2	UTSW	9	3,456,831 (GRCm39)	missense	probably damaging	1.00
R5594:Cwf19l2	UTSW	9	3,418,773 (GRCm39)	missense	probably benign	0.42
R5960:Cwf19l2	UTSW	9	3,411,404 (GRCm39)	missense	probably benign	0.43
R6222:Cwf19l2	UTSW	9	3,454,569 (GRCm39)	nonsense	probably null
R6259:Cwf19l2	UTSW	9	3,458,879 (GRCm39)	missense	probably damaging	1.00
R6688:Cwf19l2	UTSW	9	3,450,015 (GRCm39)	missense	probably benign	0.00
R6983:Cwf19l2	UTSW	9	3,477,817 (GRCm39)	missense	probably damaging	1.00
R7063:Cwf19l2	UTSW	9	3,430,532 (GRCm39)	missense	probably benign	0.03
R7506:Cwf19l2	UTSW	9	3,456,775 (GRCm39)	missense	probably damaging	1.00
R7733:Cwf19l2	UTSW	9	3,450,066 (GRCm39)	missense	probably benign	0.19
R7846:Cwf19l2	UTSW	9	3,477,889 (GRCm39)	missense	probably damaging	1.00
R7900:Cwf19l2	UTSW	9	3,460,107 (GRCm39)	missense	probably damaging	1.00
R8510:Cwf19l2	UTSW	9	3,454,732 (GRCm39)	missense	possibly damaging	0.89
R8709:Cwf19l2	UTSW	9	3,430,723 (GRCm39)	missense	probably benign	0.26
R8900:Cwf19l2	UTSW	9	3,447,245 (GRCm39)	missense	probably benign	0.01
R9031:Cwf19l2	UTSW	9	3,417,942 (GRCm39)	missense	probably benign	0.00
R9373:Cwf19l2	UTSW	9	3,454,718 (GRCm39)	missense	probably damaging	0.99
R9701:Cwf19l2	UTSW	9	3,430,454 (GRCm39)	missense	probably damaging	1.00
T0722:Cwf19l2	UTSW	9	3,456,755 (GRCm39)	missense	probably benign	0.00
X0003:Cwf19l2	UTSW	9	3,456,755 (GRCm39)	missense	probably benign	0.00
X0020:Cwf19l2	UTSW	9	3,418,662 (GRCm39)	missense	probably damaging	1.00
Z1177:Cwf19l2	UTSW	9	3,428,782 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCATGACAAGCCTTTATACCTTG -3'
(R):5'- TCCTTACATAATCACAAGCAGGAAG -3'

Sequencing Primer
(F):5'- GCCTTTATACCTTGTAAAAGTAGGC -3'
(R):5'- GTTTCAAGACTCCAAACAAA -3'

Posted On

2015-10-21