Mutagenetix > Incidental Mutations

Incidental Mutation 'R7149:CK137956'

553993

Institutional Source

Beutler Lab

Gene Symbol

CK137956

Ensembl Gene

ENSMUSG00000028813

Gene Name

cDNA sequence CK137956

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7149 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127927592-127970951 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 127970833 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000030614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030614]

Predicted Effect

probably null
Transcript: ENSMUST00000030614
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:DUF4688	197	596	3.8e-249	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,612,271	Q1172*	probably null	Het
Acly	A	C	11: 100,484,625	F790V	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,257,299		probably benign	Het
Brd8	C	T	18: 34,604,597		probably null	Het
Bsn	A	T	9: 108,116,321	L744*	probably null	Het
Capn9	A	G	8: 124,605,709	D429G	probably benign	Het
Cnot6	G	A	11: 49,680,143	P341S	probably benign	Het
Ddx58	T	C	4: 40,222,079	D445G	possibly damaging	Het
Dld	T	G	12: 31,335,590	I251L	probably benign	Het
Dlg5	T	C	14: 24,190,424	K253R	probably benign	Het
Dnmt3a	C	T	12: 3,902,397	P696L	probably damaging	Het
Dph1	T	C	11: 75,179,175	K409E	probably benign	Het
Dsg2	T	C	18: 20,579,454	S172P	probably damaging	Het
Gm1979	T	C	5: 26,001,947	N136S	probably benign	Het
Gm2663	A	T	6: 40,997,957	L60Q	probably damaging	Het
Gm5724	A	G	6: 141,744,452	S192P	probably damaging	Het
Hdac10	A	G	15: 89,127,449	F144S	probably damaging	Het
Ifi203	T	C	1: 173,928,928	T430A	unknown	Het
Itgb2l	T	C	16: 96,433,559	D244G	probably damaging	Het
Klk1b9	A	T	7: 43,979,417	Y115F	probably benign	Het
Llcfc1	C	A	6: 41,685,317	A85E	possibly damaging	Het
Lrp1b	C	T	2: 40,637,860	V4330M		Het
Map3k13	A	G	16: 21,925,437	E811G	probably benign	Het
Myl6b	A	G	10: 128,497,199		probably null	Het
Myo15	G	A	11: 60,510,010	A2997T	possibly damaging	Het
Nalcn	T	C	14: 123,599,865	D29G	probably benign	Het
Nepro	T	A	16: 44,729,715		probably null	Het
Nlrp1b	T	A	11: 71,181,656	R454*	probably null	Het
Nlrp4a	T	C	7: 26,450,438	V490A	probably benign	Het
Olfr166	T	C	16: 19,487,510	V224A	probably damaging	Het
Olfr397	G	A	11: 73,965,431	M274I	probably benign	Het
Pde8b	T	G	13: 95,086,841	M197L	probably benign	Het
Phldb2	T	A	16: 45,751,532	K1166*	probably null	Het
Plekhm1	A	G	11: 103,394,916	I231T	probably damaging	Het
Ppp6r2	T	C	15: 89,262,396	I199T	probably damaging	Het
Ptch1	G	T	13: 63,511,736	H1368N	probably benign	Het
Ptprj	T	A	2: 90,444,446	T1191S	possibly damaging	Het
Rapgef1	T	C	2: 29,720,700	S748P	probably damaging	Het
Rnmt	T	C	18: 68,319,151	S420P	probably damaging	Het
Sgms2	A	G	3: 131,336,259	F160S	possibly damaging	Het
Sim1	G	T	10: 50,909,540	R235L	probably damaging	Het
Smarcad1	T	A	6: 65,052,732	D101E	probably benign	Het
Smarcc2	G	A	10: 128,482,729	V627M	probably damaging	Het
Supt20	G	A	3: 54,728,411	R241H	unknown	Het
Tagln2	T	A	1: 172,505,819	I80N	probably damaging	Het
Tmod2	G	A	9: 75,581,885	T226I	possibly damaging	Het
Vmn2r80	A	T	10: 79,194,820	I827F	probably benign	Het
Vmn2r96	T	A	17: 18,597,727	M714K	possibly damaging	Het
Vps8	C	A	16: 21,459,776	D261E	probably damaging	Het
Yeats2	C	A	16: 20,154,189	A31E	probably damaging	Het
Zfp451	C	T	1: 33,777,324	R515Q	probably damaging	Het
Zfp553	A	G	7: 127,236,433	S387G	possibly damaging	Het

Other mutations in CK137956

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:CK137956	APN	4	127935850	missense	probably benign
IGL01365:CK137956	APN	4	127951342	missense	probably benign	0.01
IGL01563:CK137956	APN	4	127970635	missense	possibly damaging	0.94
IGL01834:CK137956	APN	4	127946649	missense	probably damaging	1.00
R0117:CK137956	UTSW	4	127946792	missense	possibly damaging	0.63
R0456:CK137956	UTSW	4	127945307	missense	probably damaging	0.99
R0492:CK137956	UTSW	4	127951300	missense	probably benign	0.03
R1793:CK137956	UTSW	4	127951449	missense	probably benign
R1869:CK137956	UTSW	4	127970534	missense	possibly damaging	0.92
R1932:CK137956	UTSW	4	127946858	missense	possibly damaging	0.89
R2011:CK137956	UTSW	4	127951036	missense	probably benign	0.25
R2030:CK137956	UTSW	4	127951387	missense	probably benign	0.23
R2032:CK137956	UTSW	4	127945276	missense	probably benign	0.38
R2135:CK137956	UTSW	4	127951640	splice site	probably benign
R2994:CK137956	UTSW	4	127951507	missense	probably benign	0.03
R3608:CK137956	UTSW	4	127951326	missense	probably damaging	1.00
R3895:CK137956	UTSW	4	127946648	missense	probably benign	0.01
R4165:CK137956	UTSW	4	127970729	missense	possibly damaging	0.83
R5610:CK137956	UTSW	4	127946647	critical splice donor site	probably null
R6861:CK137956	UTSW	4	127970726	missense	probably damaging	0.98
R8132:CK137956	UTSW	4	127951282	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCTATCCTGGGGTGTGTC -3'
(R):5'- AATATTTTCTTCTACGGGAGAGGGG -3'

Sequencing Primer
(F):5'- GGTGTGTCCTGGTGGATCC -3'
(R):5'- GCAAAAGCCAGGAAAGAGC -3'

Posted On

2019-05-15