Mutagenetix > Incidental Mutations

Incidental Mutation 'R2032:CK137956'

221337

Institutional Source

Beutler Lab

Gene Symbol

CK137956

Ensembl Gene

ENSMUSG00000028813

Gene Name

cDNA sequence CK137956

Synonyms

MMRRC Submission

040039-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127927592-127970951 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127945276 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 450 (T450A)

Ref Sequence

ENSEMBL: ENSMUSP00000030614 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030614
AA Change: T450A

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: T450A

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

Meta Mutation Damage Score

0.0767

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	G	A	7: 131,243,052	G674E	probably damaging	Het
Abca3	G	A	17: 24,366,082		probably benign	Het
Abca7	C	T	10: 80,008,237	T1359M	probably damaging	Het
Acox2	A	G	14: 8,246,400	S464P	probably benign	Het
Adgrf1	C	T	17: 43,311,275	T801I	probably damaging	Het
Akap11	T	A	14: 78,510,037	I1637L	possibly damaging	Het
Akap12	C	A	10: 4,356,673	A1161D	possibly damaging	Het
Ankrd36	T	A	11: 5,628,616	V635D	possibly damaging	Het
Ankrd44	C	T	1: 54,723,009		probably null	Het
Atl2	A	G	17: 79,895,944	V28A	probably benign	Het
Atxn3	A	T	12: 101,942,194	L133*	probably null	Het
Bmp2	T	C	2: 133,561,296	S256P	probably benign	Het
Ccdc138	T	A	10: 58,513,162	Y177N	possibly damaging	Het
Cep164	C	T	9: 45,771,600	V931M	probably damaging	Het
Col23a1	G	A	11: 51,560,008	G215D	unknown	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dennd6a	T	C	14: 26,604,749	M5T	probably benign	Het
Dnajc6	T	G	4: 101,614,238	I284S	probably benign	Het
Dolpp1	C	T	2: 30,392,441	A2V	probably damaging	Het
Eml2	C	T	7: 19,202,555	T711I	probably benign	Het
Evi5l	T	C	8: 4,210,622	D1065G	probably damaging	Het
Fam110b	G	T	4: 5,799,460	A293S	probably benign	Het
Fap	A	G	2: 62,542,237	V266A	probably benign	Het
Fgf10	A	T	13: 118,715,595	Y71F	probably damaging	Het
Gm3443	G	T	19: 21,555,800	G43C	probably damaging	Het
Gm4788	T	A	1: 139,733,255		probably benign	Het
Gm6583	G	A	5: 112,355,112	T242I	possibly damaging	Het
Gm7257	T	C	9: 36,432,899		probably null	Het
Gm8251	C	A	1: 44,061,740	C66F	possibly damaging	Het
Gpr146	T	C	5: 139,379,147		probably benign	Het
Hif3a	A	T	7: 17,051,179	L172H	probably damaging	Het
Mas1	T	C	17: 12,842,570		probably benign	Het
Nlrp5	G	A	7: 23,421,512	R717Q	probably damaging	Het
Nop14	A	G	5: 34,659,939	V36A	possibly damaging	Het
Olfr1417	C	T	19: 11,828,300	C242Y	probably damaging	Het
Olfr33	A	T	7: 102,713,876	I179N	probably benign	Het
Olfr57	T	A	10: 79,035,329	F178I	possibly damaging	Het
Parp4	T	A	14: 56,629,096	I1039K	possibly damaging	Het
Pold2	A	T	11: 5,876,757	I59N	probably benign	Het
Prr36	T	C	8: 4,214,304		probably benign	Het
Pyroxd2	T	C	19: 42,727,649		probably benign	Het
Recql	C	T	6: 142,367,283	G403R	probably damaging	Het
Serpina3m	T	A	12: 104,389,669	D198E	probably benign	Het
Sik2	A	T	9: 50,995,647	Y93N	probably damaging	Het
Slc27a3	C	T	3: 90,387,397	R389H	probably damaging	Het
Slc29a1	A	T	17: 45,586,109	M417K	probably damaging	Het
Syt13	A	G	2: 92,953,401	K339E	probably damaging	Het
Tmem237	A	T	1: 59,109,106	H163Q	probably benign	Het
Tram2	C	T	1: 21,003,956	G253R	probably null	Het
Trpv1	A	G	11: 73,238,385	T43A	probably benign	Het
Ugt2b34	A	G	5: 86,891,272	I510T	probably damaging	Het
Vmn1r224	C	A	17: 20,419,396	D78E	probably benign	Het
Vmn1r78	A	T	7: 12,153,283	I274L	probably benign	Het
Wdfy4	C	T	14: 33,146,989	V361I	probably benign	Het
Zpbp2	A	T	11: 98,554,708	K165N	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
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
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'- AGAGACACACAGGTTGTCTACTC -3'
(R):5'- ACCTGACCCCTGAGAATCTG -3'

Sequencing Primer
(F):5'- CCTCATATGAGCTATGGTTAGAGATG -3'
(R):5'- CTGAGAATCTGTATTCCCTGGTCG -3'

Posted On

2014-08-25