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Incidental Mutations

86 incidental mutations are currently displayed, and affect 84 genes.

13 are Possibly Damaging.

32 are Probably Damaging.

30 are Probably Benign.

10 are Probably Null.

3 create premature stop codons.

4 are critical splice junction mutations.

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

[records 1 to 86 of 86] 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	48666		2010300C02Rik	0.000	R0523	G1	225	N		1	37644629	M1K	A	T	start codon destroyed		Het	probably null	0.942			06/12/2013
2	48738		2410089E03Rik	1.000	R0523	G1	225	N		15	8194386	Y878N	T	A	missense		Het	probably damaging	0.997		phenotype	06/12/2013
3	48703		A2ml1	0.000	R0523	G1	225	N		6	128558326	D807G	T	C	missense		Het	possibly damaging	0.921			06/12/2013
4	48751		Actl9	0.000	R0523	G1	225	N		17	33433349	W128R	T	A	missense		Het	probably damaging	1.000			06/12/2013
5	48736		Aggf1	0.810	R0523	G1	209	N		13	95356416	I562V	T	C	missense		Het	probably damaging	0.991		phenotype	06/12/2013
6	48672		Ano3	0.114	R0523	G1	225	N		2	110884855	E79D	T	A	missense		Het	probably benign	0.130		phenotype	06/12/2013
7	48702		Apobec1	0.000	R0523	G1	225	N		6	122581545	I84F	T	A	missense		Het	probably damaging	0.998		phenotype	06/12/2013
8	48713		Atp6v1b2	1.000	R0523	G1	225	N		8	69109985	F458L	T	C	missense		Het	possibly damaging	0.520		phenotype	06/12/2013
9	48752		BC051142	0.103	R0523	G1	225	N		17	34445499		G	T	critical splice donor site	1 bp	Het	probably null				06/12/2013
10	48717		Bco2	0.078	R0523	G1	196	N		9	50534626	V490E	A	T	missense		Het	probably damaging	0.999		phenotype	06/12/2013
11	261909		Catsperg1	0.063	R0523	G1	91	N		7	29185190		G	A	unclassified		Het	probably benign				02/04/2015
12	48715		Cdc37	0.939	R0523	G1	225	N		9	21142996	K111R	T	C	missense		Het	probably damaging	0.998		phenotype	06/12/2013
13	48723		Cfap54	0.080	R0523	G1	225	N		10	92908883		T	C	utr 3 prime		Het	probably benign			phenotype	06/12/2013
14	48747		Cpox	0.909	R0523	G1	197	N		16	58675245	C308*	T	A	nonsense		Het	probably null			phenotype	06/12/2013
15	48722		Ctnna3	0.181	R0523	G1	225	N		10	64675909	M626R	T	G	missense		Het	probably damaging	0.973		phenotype	06/12/2013
16	48758		Cyp2c68	0.000	R0523	G1	225	N		19	39739429	E93G	T	C	missense		Het	probably benign	0.078			06/12/2013
17	48707		Cyp2s1	0.000	R0523	G1	225	N		7	25806050	R330W	G	A	missense		Het	probably damaging	0.996		phenotype	06/12/2013
18	48755		Diaph1	0.000	R0523	G1	225	N		18	37856500	V860I	C	T	missense		Het	possibly damaging	0.564		phenotype	06/12/2013
19	48735		Dicer1	1.000	R0523	G1	225	N		12	104702491	S1311P	A	G	missense		Het	probably damaging	1.000		phenotype	06/12/2013
20	48684		Dpyd	0.000	R0523	G1	225	N		3	118899203	R332K	G	A	missense		Het	probably benign	0.000		phenotype	06/12/2013
21	48685		E130308A19Rik	0.188	R0523	G1	225	N		4	59719716	R416H	G	A	missense		Het	probably damaging	0.980			06/12/2013
22	48741		Eef1d	0.305	R0523	G1	107	N		15	75903156	D218G	T	C	missense		Het	probably benign	0.000		phenotype	06/12/2013
23	48697		Eif2ak1	0.163	R0523	G1	225	N		5	143882166	V215A	T	C	missense		Het	probably damaging	0.996		phenotype	06/12/2013
24	48673		Eif2ak4	0.000	R0523	G1	145	N		2	118442096		T	C	critical splice donor site	2 bp	Het	probably null			phenotype	06/12/2013
25	48706		Fam71e2	0.077	R0523	G1	225	N		7	4759393	S246P	A	G	missense		Het	possibly damaging	0.744			06/12/2013
26	48681		Fcrl5	0.061	R0523	G1	162	N		3	87457792	S583P	T	C	missense		Het	possibly damaging	0.720		phenotype	06/12/2013
27	48696		Grid2ip	0.239	R0523	G1	105	N		5	143373043	Q29K	C	A	missense		Het	possibly damaging	0.851		phenotype	06/12/2013
28	48748		Htr1f	0.000	R0523	G1	225	N		16	64925899	N343K	A	T	missense		Het	probably damaging	1.000		phenotype	06/12/2013
29	48694		Hvcn1	0.114	R0523	G1	225	N		5	122216365		T	C	critical splice donor site	2 bp	Het	probably null			phenotype	06/12/2013
30	48750		Igf2r	0.909	R0523	G1	225	N		17	12692064	I1956V	T	C	missense		Het	probably benign	0.273		phenotype	06/12/2013
31	48719		Impdh2	1.000	R0523	G1	225	N		9	108561819		A	T	unclassified	4042 bp	Het	probably null			phenotype	06/12/2013
32	48720		Impdh2	1.000	R0523	G1	225	N		9	108561820	T96I	C	T	missense		Het	possibly damaging	0.796		phenotype	06/12/2013
33	48718		Lactb	0.000	R0523	G1	225	N		9	66970692	G285A	C	G	missense		Het	probably benign	0.071		phenotype	06/12/2013
34	48695		Lrrc43	0.067	R0523	G1	152	N		5	123501242	S445P	T	C	missense		Het	probably damaging	0.998			06/12/2013
35	48746		Maats1	0.000	R0523	G1	225	N		16	38328374	P231S	G	A	missense		Het	probably damaging	1.000			06/12/2013
36	48743		Mapk12	0.000	R0523	G1	225	N		15	89135645	M120L	T	G	missense		Het	probably benign	0.118		phenotype	06/12/2013
37	48678		Mroh8	0.921	R0523	G1	225	N		2	157224036	A669P	C	G	missense		Het	probably damaging	1.000		phenotype	06/12/2013
38	48732		Mrpl38	0.945	R0523	G1	225	N		11	116132018	H373Q	A	C	missense		Het	probably benign	0.027		phenotype	06/12/2013
39	48728		Myocd	1.000	R0523	G1	216	N		11	65180902	V740A	A	G	missense		Het	probably damaging	0.999		phenotype	06/12/2013
40	48740		Naprt	0.081	R0523	G1	140	N		15	75892465	F300S	A	G	missense		Het	probably damaging	1.000		phenotype	06/12/2013
41	48749		Ncam2	0.000	R0523	G1	225	N		16	81461643	I271T	T	C	missense		Het	probably damaging	0.993		phenotype	06/12/2013
42	48737		Nek4	0.368	R0523	G1	225	N		14	30980038	T582A	A	G	missense		Het	probably benign	0.180		phenotype	06/12/2013
43	48682		Notch2	1.000	R0523	G1	225	N		3	98070970	T89I	C	T	missense		Het	probably benign	0.337		phenotype	06/12/2013
44	48683		Notch2	1.000	R0523	G1	225	N		3	98111598	R692H	G	A	missense		Het	probably benign	0.005		phenotype	06/12/2013
45	48700		Nt5c3	0.197	R0523	G1	200	N		6	56883681	N296K	A	T	missense		Het	probably damaging	1.000		phenotype	06/12/2013
46	48730		Nt5c3b	0.122	R0523	G1	225	N		11	100436210	I87F	T	A	missense		Het	probably damaging	0.991			06/12/2013
47	48693		Oas3	0.079	R0523	G1	225	N		5	120766144	Q555R	T	C	missense		Het	unknown			phenotype	06/12/2013
48	48670		Olfr1013	0.142	R0523	G1	225	N		2	85769929	S43T	T	A	missense		Het	probably benign	0.000		phenotype	06/12/2013
49	48709		Olfr494	0.152	R0523	G1	225	N		7	108368231	H247L	A	T	missense		Het	probably damaging	0.996		phenotype	06/12/2013
50	48708		Olfr699	0.088	R0523	G1	225	N		7	106790326	V225A	A	G	missense		Het	probably damaging	0.996		phenotype	06/12/2013
51	48687		P3h1	0.000	R0523	G1	132	N		4	119241530	Q410K	C	A	missense		Het	probably benign	0.323		phenotype	06/12/2013
52	48667		Pax3	0.820	R0523	G1	225	N		1	78195441	V44A	A	G	missense		Het	possibly damaging	0.832		phenotype	06/12/2013
53	48699		Pde1c	0.115	R0523	G1	225	N		6	56174941	L252F	T	A	missense		Het	probably damaging	1.000		phenotype	06/12/2013
54	48759		Pdzd7	0.394	R0523	G1	225	N		19	45036090	T497S	T	A	missense		Het	probably benign	0.009		phenotype	06/12/2013
55	48756		Piezo2	1.000	R0523	G1	225	N		18	63022481	T253A	T	C	missense		Het	probably damaging	1.000		phenotype	06/12/2013
56	48729		Pipox	0.000	R0523	G1	225	N		11	77892139	E79G	T	C	missense		Het	probably damaging	0.999			06/12/2013
57	48692		Pole	1.000	R0523	G1	225	N		5	110303593	M829I	G	T	missense		Het	probably damaging	0.960		phenotype	06/12/2013
58	48705		Ppp1r12c	0.168	R0523	G1	225	N		7	4489772	L156Q	A	T	missense		Het	probably damaging	1.000		phenotype	06/12/2013
59	48726		Psme2b	0.140	R0523	G1	225	N		11	48945782	T113P	T	G	missense		Het	probably damaging	0.970		phenotype	06/12/2013
60	48724		Ptprq	0.444	R0523	G1	225	N		10	107580220	I1739T	A	G	missense		Het	possibly damaging	0.539		phenotype	06/12/2013
61	48671		Qser1	0.510	R0523	G1	225	N		2	104789676	T174A	T	C	missense		Het	probably damaging	0.996			06/12/2013
62	48668		Rcor3	0.555	R0523	G1	225	N		1	192130436	D81A	T	G	missense		Het	probably damaging	0.999			06/12/2013
63	48721		Rev3l	1.000	R0523	G1	225	N		10	39848049	V785A	T	C	missense		Het	probably benign	0.017	0.090	phenotype	06/12/2013
64	48686		Rnf11		R0523	G1	225	N		4	109456922	D90G	T	C	missense		Het	probably benign	0.001		phenotype	06/12/2013
65	66947		Sh3tc1	0.090	R0523	G1	108	N		5	35724066		GCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCC	small deletion		Het	probably benign				08/19/2013
66	48757		Smad2	1.000	R0523	G1	211	N		18	76262552	S21T	T	A	missense		Het	probably benign	0.000		phenotype	06/12/2013
67	48679		Smc4	0.967	R0523	G1	225	N		3	69025888	D639G	A	G	missense		Het	probably damaging	1.000		phenotype	06/12/2013
68	48725		Smtn	0.730	R0523	G1	84	N		11	3524664	S716T	A	T	missense		Het	possibly damaging	0.892		phenotype	06/12/2013
69	48744		Smug1		R0523	G1	207	N		15	103155709	Q262K	G	T	missense		Het	probably benign	0.001		phenotype	06/12/2013
70	48698		Sspo	0.000	R0523	G1	225	N		6	48451860	G403V	G	T	missense		Het	probably benign	0.202			06/12/2013
71	48704		Tas2r131	0.000	R0523	G1	225	N		6	132957451	F132L	A	G	missense		Het	possibly damaging	0.710			06/12/2013
72	48676		Tgm3	0.000	R0523	G1	225	N		2	130044662		T	C	critical splice donor site	2 bp	Het	probably null			phenotype	06/12/2013
73	48701		Tigd2	0.100	R0523	G1	225	N		6	59210373	T75M	C	T	missense		Het	probably benign	0.301		phenotype	06/12/2013
74	48727		Tnfrsf13b	0.068	R0523	G1	117	N		11	61147587	V232A	T	C	missense		Het	probably benign	0.326		phenotype	06/12/2013
75	48753		Tnfrsf21	0.131	R0523	G1	225	N		17	43038213	H239Y	C	T	missense		Het	probably benign	0.000	0.068	phenotype	06/12/2013
76	48731		Trim47	0.000	R0523	G1	219	N		11	116107890	L301S	A	G	missense		Het	probably damaging	1.000			06/12/2013
77	48712		Trim75	0.201	R0523	G1	225	N		8	64983790	H3Y	G	A	missense		Het	probably benign	0.050			06/12/2013
78	48674		Trp53bp1	0.000	R0523	G1	225	N		2	121251868	A317S	C	A	missense		Het	probably null	0.125	0.976	phenotype	06/12/2013
79	48714		Ttc29	0.073	R0523	G1	225	N		8	78276837	L227F	G	C	missense		Het	probably benign	0.007			06/12/2013
80	48754		Ttc39d	0.136	R0523	G1	225	N		17	80216457	D182N	G	A	missense		Het	possibly damaging	0.780			06/12/2013
81	48690		Ttll10	0.000	R0523	G1	225	N		4	156045361	R164*	T	A	nonsense		Het	probably null				06/12/2013
82	48711		Ufsp2	1.000	R0523	G1	225	N		8	45996743	D447E	T	A	missense		Het	probably benign	0.002		phenotype	06/12/2013
83	48691		Ugt2b37	0.059	R0523	G1	225	N		5	87251832	L272F	T	A	missense		Het	possibly damaging	0.908			06/12/2013
84	48739		Vps13b	0.000	R0523	G1	225	N		15	35472050	V833A	T	C	missense		Het	probably benign	0.204		phenotype	06/12/2013
85	48680		Zbbx	0.061	R0523	G1	225	N		3	75081858	T308A	T	C	missense		Het	probably benign	0.025			06/12/2013
86	48688		Zfp933	0.080	R0523	G1	225	N		4	147826462	Q226*	G	A	nonsense		Het	probably null				06/12/2013
[records 1 to 86 of 86]