Mutagenetix > Incidental Mutations

Incidental Mutation 'R0456:CK137956'

40003

Institutional Source

Beutler Lab

Gene Symbol

CK137956

Ensembl Gene

ENSMUSG00000028813

Gene Name

cDNA sequence CK137956

Synonyms

MMRRC Submission

038656-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R0456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127927592-127970951 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127945307 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 439 (N439K)

Ref Sequence

ENSEMBL: ENSMUSP00000030614 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000030614
AA Change: N439K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: N439K

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,295,979	P11L	probably damaging	Het
Antxr1	A	C	6: 87,217,275	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,232,740	N1127D	probably benign	Het
Bivm	T	A	1: 44,126,809	W140R	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,760,851	V928A	possibly damaging	Het
Chia1	T	C	3: 106,128,479	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,176,478	I268F	probably damaging	Het
Csf3r	C	A	4: 126,035,861	N392K	probably damaging	Het
Cyp1b1	T	C	17: 79,710,275	I484V	probably benign	Het
Dsc1	T	C	18: 20,099,112	K280E	probably damaging	Het
Eefsec	A	G	6: 88,297,888	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843		probably null	Het
Erap1	G	A	13: 74,664,220	V385I	probably benign	Het
Fat1	A	T	8: 45,029,534	I3077F	probably damaging	Het
Fras1	T	G	5: 96,714,343		probably null	Het
Fras1	G	T	5: 96,554,788	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,923,510	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,158,322	V60A	probably damaging	Het
Hapln4	A	T	8: 70,084,995	Y113F	probably benign	Het
Hist1h4f	T	C	13: 23,551,387	D86G	probably damaging	Het
Ikzf4	T	A	10: 128,635,808	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,735,726	H302L	probably damaging	Het
Klhl41	T	C	2: 69,670,549	V118A	probably damaging	Het
Kpna1	T	C	16: 36,002,900	S41P	possibly damaging	Het
Krt23	A	G	11: 99,486,778	V134A	probably benign	Het
Lamb1	G	A	12: 31,304,730	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,731,778	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,104	S171P	probably damaging	Het
Lvrn	G	A	18: 46,864,816		probably null	Het
Matr3	T	A	18: 35,572,864	F281I	probably damaging	Het
Nxn	G	A	11: 76,263,137	Q291*	probably null	Het
Olfr1467	A	G	19: 13,364,738	T37A	probably damaging	Het
Pdp2	G	T	8: 104,593,789	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,733,891	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,522,579	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,389,793		probably null	Het
Ptpro	G	T	6: 137,414,230	V783L	probably benign	Het
Rab40c	A	G	17: 25,884,657	V144A	possibly damaging	Het
Rasal2	T	C	1: 157,149,843	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,647,523	S103C	possibly damaging	Het
Rgl2	A	G	17: 33,936,849		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rit2	A	T	18: 30,975,451	F160L	probably benign	Het
Rnh1	A	G	7: 141,162,548	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,791,466	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,259,656	I505F	probably benign	Het
Sorcs3	A	T	19: 48,654,044	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,578,634	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,381,855	S456T	probably benign	Het
Syne1	T	C	10: 5,342,252	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,803,391	N164S	probably benign	Het
Tigd3	A	G	19: 5,892,793	L103P	probably damaging	Het
Tldc1	A	T	8: 119,768,423	F199I	probably damaging	Het
Tmem132b	T	C	5: 125,787,724	S965P	probably damaging	Het
Tmem82	T	C	4: 141,617,390	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,038,091	E198G	probably benign	Het
Tnpo2	A	G	8: 85,054,416	N767S	probably damaging	Het
Trf	T	C	9: 103,226,903	Y87C	probably damaging	Het
Tst	A	G	15: 78,405,580	V85A	probably damaging	Het
Usp37	A	T	1: 74,468,348	N503K	probably damaging	Het
Utp20	C	T	10: 88,754,573	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,711,406	D37G	probably benign	Het
Vmn1r77	T	A	7: 12,041,738	L79*	probably null	Het
Zbtb3	A	T	19: 8,803,200	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,808,854	F182S	probably benign	Het
Zfp426	A	G	9: 20,470,297	F465L	probably damaging	Het
Zfp526	A	G	7: 25,226,212	E632G	probably 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
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
R7149:CK137956	UTSW	4	127970833	start codon destroyed	probably null	0.53
R8132:CK137956	UTSW	4	127951282	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCAGAGACACACAGGTTGTCTAC -3'
(R):5'- ACTTGAAAGGACCCCTCTTGGAGC -3'

Sequencing Primer
(F):5'- CGTTCAAGGGGAGTCCCAAG -3'
(R):5'- CTTGGAGCTTAAGGGACCTGAC -3'

Posted On

2013-05-23