Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:A430033K04Rik'

332846

Institutional Source

Beutler Lab

Gene Symbol

A430033K04Rik

Ensembl Gene

ENSMUSG00000056014

Gene Name

RIKEN cDNA A430033K04 gene

Synonyms

MMRRC Submission

041589-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138622859-138652414 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 138647744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 630 (K630N)

Ref Sequence

ENSEMBL: ENSMUSP00000142904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069862] [ENSMUST00000198958]

AlphaFold

E9Q8G5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069862
AA Change: K630N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: K630N

Domain	Start	End	E-Value	Type
KRAB	16	76	6.23e-34	SMART
ZnF_C2H2	261	280	1.01e2	SMART
ZnF_C2H2	455	477	1.47e-3	SMART
ZnF_C2H2	483	505	4.05e-1	SMART
ZnF_C2H2	511	533	5.5e-3	SMART
ZnF_C2H2	539	561	7.26e-3	SMART
ZnF_C2H2	567	589	5.14e-3	SMART
ZnF_C2H2	595	617	3.63e-3	SMART
ZnF_C2H2	623	645	1.92e-2	SMART
ZnF_C2H2	651	673	2.12e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000198958
AA Change: K630N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: K630N

Domain	Start	End	E-Value	Type
KRAB	16	76	2.7e-36	SMART
ZnF_C2H2	261	280	4.2e-1	SMART
ZnF_C2H2	455	477	6.4e-6	SMART
ZnF_C2H2	483	505	1.8e-3	SMART
ZnF_C2H2	511	533	2.3e-5	SMART
ZnF_C2H2	539	561	3e-5	SMART
ZnF_C2H2	567	589	2.1e-5	SMART
ZnF_C2H2	595	617	1.5e-5	SMART
ZnF_C2H2	623	643	2.7e-1	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het

Other mutations in A430033K04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:A430033K04Rik	APN	5	138647592	missense	probably damaging	1.00
IGL00336:A430033K04Rik	APN	5	138647104	missense	probably damaging	0.99
IGL02615:A430033K04Rik	APN	5	138646140	nonsense	probably null
IGL03354:A430033K04Rik	APN	5	138646779	missense	possibly damaging	0.85
R0172:A430033K04Rik	UTSW	5	138647316	missense	probably damaging	0.99
R1769:A430033K04Rik	UTSW	5	138646257	missense	probably benign	0.04
R4903:A430033K04Rik	UTSW	5	138646857	nonsense	probably null
R4964:A430033K04Rik	UTSW	5	138646857	nonsense	probably null
R5389:A430033K04Rik	UTSW	5	138646297	missense	probably benign	0.02
R5769:A430033K04Rik	UTSW	5	138646333	missense	possibly damaging	0.86
R6128:A430033K04Rik	UTSW	5	138647776	missense	probably damaging	1.00
R6399:A430033K04Rik	UTSW	5	138647559	missense	probably damaging	1.00
R6444:A430033K04Rik	UTSW	5	138639569	small deletion	probably benign
R6600:A430033K04Rik	UTSW	5	138647448	frame shift	probably null
R6774:A430033K04Rik	UTSW	5	138646450	missense	probably benign
R7098:A430033K04Rik	UTSW	5	138646522	missense	probably benign
R7217:A430033K04Rik	UTSW	5	138646926	missense	probably benign
R7269:A430033K04Rik	UTSW	5	138646752	missense	possibly damaging	0.86
R7429:A430033K04Rik	UTSW	5	138636183	missense	possibly damaging	0.92
R7442:A430033K04Rik	UTSW	5	138647247	missense	possibly damaging	0.55
R7718:A430033K04Rik	UTSW	5	138647860	missense	possibly damaging	0.73
R8007:A430033K04Rik	UTSW	5	138646639	missense	probably benign	0.33
R8170:A430033K04Rik	UTSW	5	138647053	missense	possibly damaging	0.72
R8348:A430033K04Rik	UTSW	5	138636252	missense	probably damaging	1.00
R8496:A430033K04Rik	UTSW	5	138646858	missense	probably benign	0.00
R8520:A430033K04Rik	UTSW	5	138646706	missense	possibly damaging	0.72
R8778:A430033K04Rik	UTSW	5	138646887	missense	possibly damaging	0.53
R8858:A430033K04Rik	UTSW	5	138640076	missense	probably benign	0.01
R9147:A430033K04Rik	UTSW	5	138646285	missense	possibly damaging	0.86
R9148:A430033K04Rik	UTSW	5	138646285	missense	possibly damaging	0.86
R9418:A430033K04Rik	UTSW	5	138647055	missense	probably damaging	1.00
R9645:A430033K04Rik	UTSW	5	138646531	missense	probably benign	0.33
R9661:A430033K04Rik	UTSW	5	138647189	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AATGCCGGAAAGCTTTCTCC -3'
(R):5'- ACTAGCTTAAGAACCTTCTCCATCG -3'

Sequencing Primer
(F):5'- GGAAAGCTTTCTCCCGTAATTCACAC -3'
(R):5'- AAGAACCTTCTCCATCGTTTACATC -3'

Posted On

2015-08-18