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Incidental Mutations

50 incidental mutations are currently displayed, and affect 50 genes.

10 are Possibly Damaging.

20 are Probably Damaging.

10 are Probably Benign.

10 are Probably Null.

4 create premature stop codons.

3 are critical splice junction mutations.

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Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing

[records 1 to 50 of 50] 10 25 50 100 500 1000 per page Full List
	ID	Source UTSW APN	Gene	E-score	Stock #	Gen G0 G0' G1 G2 G3 G3R F1 F2 F3 C0 C1 C2 C3 D1 HES IPS A3	Quality -	Vld Y N ?	Strain	Chr 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 X Y	Position	Mutation A R N D C E Q G H I L K M F P S T W Y V * A R N D C E Q G H I L K M F P S T W Y V *	Ref A C G T -	Var A C G T -	Type makesense missense nonsense start codon destroyed start gained synonymous splice acceptor site splice donor site critical splice acceptor site critical splice donor site splice site large deletion large insertion rearrangement small deletion small insertion exon frame shift intragenic intron utr 3 prime utr 5 prime unclassified	Exon Dist	Zygosity Homo Het Hemi Null	Predicted Effect unknown probably benign probably null possibly damaging probably damaging noncoding transcript silent not run no transcript	PPH Score -	Meta Score	MGI Phenotype available none listed	Posted
1	514016		Abca5	0.188	R6343	G1	225.01	Y		11	110314552	L301Q	A	T	missense		Het	probably damaging	0.997		phenotype	04/27/2018
2	513986		Adgrl4	0.000	R6343	G1	225.01	Y		3	151517806	L632P	T	C	missense		Het	probably damaging	1.000	0.364	phenotype	04/27/2018
3	513993		Cacna2d1	0.380	R6343	G1	225.01	Y		5	16322564	I539N	T	A	missense		Het	probably benign	0.094		phenotype	04/27/2018
4	513992		Camta1	0.557	R6343	G1	225.01	Y		4	151079849	H314L	T	A	missense		Het	probably damaging	0.977	0.247	phenotype	04/27/2018
5	513985		Car2	0.462	R6343	G1	225.01	Y		3	14887965	S56P	T	C	missense		Het	probably damaging	0.996		phenotype	04/27/2018
6	513984		Chrm5	0.086	R6343	G1	225.01	Y		2	112479448	A441V	G	A	missense		Het	probably damaging	0.996	0.364	phenotype	04/27/2018
7	513983		Ckap5	1.000	R6343	G1	225.01	Y		2	91596474	N1380K	T	A	missense		Het	possibly damaging	0.949	0.162	phenotype	04/27/2018
8	514011		Cspg4	0.000	R6343	G1	225.01	Y		9	56892692	V1580A	T	C	missense		Het	probably benign	0.000		phenotype	04/27/2018
9	514024		Dcc	1.000	R6343	G1	225.01	Y		18	71336035	L1099P	A	G	missense		Het	probably damaging	0.996		phenotype	04/27/2018
10	514028		Dnase1l1	0.108	R6343	G1	222	Y		X	74277038		C	T	critical splice donor site	1 bp	Homo	probably null		0.971	phenotype	04/27/2018
11	513995		Epha5	0.000	R6343	G1	225.01	Y		5	84106747	H644Q	A	T	missense		Het	probably damaging	1.000		phenotype	04/27/2018
12	513989		Eya3	0.810	R6343	G1	225.01	Y		4	132672910	I80T	T	C	missense		Het	probably damaging	0.962	0.074	phenotype	04/27/2018
13	514021		Fdft1	1.000	R6343	G1	225.01	Y		14	63151272	Y304N	A	T	missense		Het	probably damaging	1.000		phenotype	04/27/2018
14	514000		Fiz1	0.114	R6343	G1	136.01	Y		7	5008401	A373T	C	T	missense		Het	possibly damaging	0.939	0.127	phenotype	04/27/2018
15	514018		Gpatch2l	0.000	R6343	G1	225.01	Y		12	86260605	Y252*	T	A	nonsense		Het	probably null		0.976		04/27/2018
16	514020		Hivep1	0.713	R6343	G1	225.01	Y		13	42159671	G1796*	G	T	nonsense		Het	probably null			phenotype	04/27/2018
17	514008		Irf8	0.000	R6343	G1	223.01	Y		8	120753707	V228A	T	C	missense		Het	probably damaging	0.968	0.305	phenotype	04/27/2018
18	514012		Islr	0.141	R6343	G1	225.01	Y		9	58157096	V376G	A	C	missense		Het	probably damaging	0.999		phenotype	04/27/2018
19	513999		Kdm5a	1.000	R6343	G1	165.01	Y		6	120382933	V230A	T	C	missense		Het	probably benign	0.010		phenotype	04/27/2018
20	513982		Lpgat1	0.360	R6343	G1	122.01	Y		1	191776572		A	G	intron	143 bp	Het	probably null		0.976	phenotype	04/27/2018
21	513987		Lrp8	0.611	R6343	G1	198.01	Y		4	107869156		T	C	splice site	6 bp	Het	probably null			phenotype	04/27/2018
22	514013		Lyzl4	0.056	R6343	G1	131.01	Y		9	121578084	S127A	A	C	missense		Het	possibly damaging	0.710	0.275	phenotype	04/27/2018
23	514002		Map4k1	0.000	R6343	G1	225.01	Y		7	29000290	V606A	T	C	missense		Het	possibly damaging	0.763	0.314	phenotype	04/27/2018
24	514007		Mau2	1.000	R6343	G1	218.01	Y		8	70031523	K138N	T	A	missense		Het	probably damaging	0.986		phenotype	04/27/2018
25	514015		Meikin	0.136	R6343	G1	225.01	Y		11	54370766	L33P	T	C	missense		Het	probably damaging	0.974		phenotype	04/27/2018
26	514023		Mrpl28	0.866	R6343	G1	188.01	Y		17	26126278	V224A	T	C	missense		Het	probably benign	0.055	0.108	phenotype	04/27/2018
27	513988		Ncdn	1.000	R6343	G1	225.01	Y		4	126747171	D512G	T	C	missense		Het	possibly damaging	0.737	0.076	phenotype	04/27/2018
28	514001		Nlrp2	0.000	R6343	G1	225.01	Y		7	5300926	Q200L	T	A	missense		Het	possibly damaging	0.820		phenotype	04/27/2018
29	514005		Nup98	1.000	R6343	G1	225.01	Y		7	102194750	N89S	T	C	missense		Het	possibly damaging	0.897		phenotype	04/27/2018
30	513980		Ogfrl1	0.094	R6343	G1	225.01	Y		1	23369863	K427N	T	G	missense		Het	probably benign	0.044	0.090		04/27/2018
31	514025		Olfr1448	0.112	R6343	G1	225.01	Y		19	12919582	H242Q	G	T	missense		Het	probably damaging	1.000		phenotype	04/27/2018
32	514003		Olfr304	0.084	R6343	G1	225.01	Y		7	86385851	R270*	T	A	nonsense		Het	probably null			phenotype	04/27/2018
33	514006		Olfr551	0.094	R6343	G1	225.01	Y		7	102588546	C66R	A	G	missense		Het	probably damaging	0.981		phenotype	04/27/2018
34	514014		Olfr770	0.061	R6343	G1	225.01	Y		10	129133666	L34*	A	T	nonsense		Het	probably null			phenotype	04/27/2018
35	513991		Padi3	0.000	R6343	G1	225.01	Y		4	140803508	V68I	C	T	missense		Het	possibly damaging	0.580	0.179	phenotype	04/27/2018
36	513981		Pign	0.712	R6343	G1	225.01	Y		1	105585095	M621K	A	T	missense		Het	probably benign	0.329	0.263	phenotype	04/27/2018
37	513990		Pigv	0.826	R6343	G1	225.01	Y		4	133665236	V208M	C	T	missense		Het	probably damaging	1.000	0.647	phenotype	04/27/2018
38	514022		Ripk4	0.484	R6343	G1	200.01	Y		16	97763526		A	G	critical splice donor site	2 bp	Het	probably null			phenotype	04/27/2018
39	514004		Rsf1	1.000	R6343	G1	225.01	Y		7	97660917	K285E	A	G	missense		Het	probably benign	0.300		phenotype	04/27/2018
40	514019		Serpina3k	0.063	R6343	G1	225.01	Y		12	104345303	G380A	G	C	missense		Het	probably benign	0.000	0.090		04/27/2018
41	514027		Sorbs1	0.781	R6343	G1	225.01	Y		19	40376982		A	G	critical splice donor site	2 bp	Het	probably null			phenotype	04/27/2018
42	513997		Srrd	0.788	R6343	G1	225.01	Y		5	112340000	A104G	G	C	missense		Het	probably benign	0.047	0.090		04/27/2018
43	535629		Tbp	1.000	R6343	G1	222.01	Y		17	15501089		T	A	unclassified		Het	probably null		0.976	phenotype	09/13/2018
44	513994		Tecrl	0.272	R6343	G1	225.01	Y		5	83294600	H209Y	G	A	missense		Het	probably damaging	0.958			04/27/2018
45	513996		Tmprss11c	0.000	R6343	G1	225.01	Y		5	86256345	L157P	A	G	missense		Het	probably damaging	1.000			04/27/2018
46	514010		Tmprss13	0.000	R6343	G1	225.01	Y		9	45343200	T422S	A	T	missense		Het	possibly damaging	0.658		phenotype	04/27/2018
47	514017		Ttll5	0.515	R6343	G1	225.01	Y		12	85956699	H1103R	A	G	missense		Het	probably benign	0.001	0.060	phenotype	04/27/2018
48	514009		Urb2	0.951	R6343	G1	225.01	Y		8	124031125	E1190D	G	T	missense		Het	probably damaging	0.990	0.647		04/27/2018
49	514026		Vldlr	0.361	R6343	G1	225.01	Y		19	27245649	Y699C	A	G	missense		Het	probably damaging	0.989		phenotype	04/27/2018
50	513998		Vmn1r22	0.118	R6343	G1	225.01	Y		6	57900578	N138T	T	G	missense		Het	possibly damaging	0.651	0.179		04/27/2018
[records 1 to 50 of 50]