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Incidental Mutations

111 incidental mutations are currently displayed, and affect 110 genes.

12 are Possibly Damaging.

36 are Probably Damaging.

48 are Probably Benign.

13 are Probably Null.

3 create premature stop codons.

2 are critical splice junction mutations.

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

[records 1 to 100 of 111] next >> last >| 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	31658		A730017C20Rik	0.000	R0390	G1	225	Y		18	59075688	V136E	T	A	missense		Het	probably damaging	0.975	0.647		04/24/2013
2	31604		Adam18	0.000	R0390	G1	225	Y		8	24674054	G38R	C	T	missense		Het	probably benign	0.065	0.090	phenotype	04/24/2013
3	31648		Ap2m1	1.000	R0390	G1	225	Y		16	20541099	M183T	T	C	missense		Het	probably damaging	0.976	0.924	phenotype	04/24/2013
4	31627		Apob	0.911	R0390	G1	225	Y		12	7988678	I364F	A	T	missense		Het	probably damaging	0.992	0.293	phenotype	04/24/2013
5	31652		Arl6	0.790	R0390	G1	225	Y		16	59622421		A	T	intron		Het	probably benign		0.090	phenotype	04/24/2013
6	218523		Cand2	0.000	R0390	G1	45	Y		6	115774653	M15V	A	G	missense		Het	possibly damaging	0.900	0.106		08/14/2014
7	31612		Cbl	0.716	R0390	G1	225	Y		9	44201005	F131S	A	G	missense		Het	probably damaging	1.000	0.974	phenotype	04/24/2013
8	31608		Ccdc151	0.062	R0390	G1	225	Y		9	21991708	H442L	T	A	missense		Het	probably benign	0.001	0.081	phenotype	04/24/2013
9	31647		Ccdc74a	0.131	R0390	G1	225	Y		16	17650476	S321G	A	G	missense		Het	probably benign	0.317	0.090		04/24/2013
10	31634		Cdc14b	0.287	R0390	G1	225	Y		13	64210192		T	C	unclassified		Het	probably benign			phenotype	04/24/2013
11	31573		Cep152	1.000	R0390	G1	225	Y		2	125576869		T	C	splice site		Het	probably benign			phenotype	04/24/2013
12	31621		Cep290	0.925	R0390	G1	225	Y		10	100508758	E479G	A	G	missense		Het	probably benign	0.093	0.126	phenotype	04/24/2013
13	31588		Chrm2	0.073	R0390	G1	225	Y		6	36524111	I301R	T	G	missense		Het	probably benign	0.061	0.078	phenotype	04/24/2013
14	31591		Clec2e	0.047	R0390	G1	225	Y		6	129093468	W197R	A	G	missense		Het	probably damaging	0.989	0.647		04/24/2013
15	31619		Cnot10	1.000	R0390	G1	225	Y		9	114629150	S96*	G	T	nonsense		Het	probably null		0.976		04/24/2013
16	31560		Col19a1	1.000	R0390	G1	225	Y		1	24289655		A	G	splice site		Het	probably benign			phenotype	04/24/2013
17	271559		Csmd2	0.154	R0390	G1	211	Y		4	128133673		T	C	intron		Het	probably benign				03/23/2015
18	31640		Cthrc1	0.000	R0390	G1	217	Y		15	39086764	*172L	A	T	makesense		Het	probably null		0.855	phenotype	04/24/2013
19	31653		Cul9	0.259	R0390	G1	225	Y		17	46528589	I821N	A	T	missense		Het	probably benign	0.342	0.145	phenotype	04/24/2013
20	31629		Daam1	1.000	R0390	G1	225	Y		12	71975304		G	C	splice site		Het	probably benign			phenotype	04/24/2013
21	31626		Dhx58	0.237	R0390	G1	225	Y		11	100699264	I398N	A	T	missense		Het	probably damaging	1.000	0.674	phenotype	04/24/2013
22	31644		Dip2b	0.681	R0390	G1	225	Y		15	100193913	H844Q	T	A	missense		Het	probably damaging	0.986	0.367	phenotype	04/24/2013
23	31593		Dmac2	0.243	R0390	G1	225	Y		7	25621029	D50G	A	G	missense		Het	probably damaging	1.000	0.681		04/24/2013
24	31657		Dmxl1	0.958	R0390	G1	225	Y		18	49879362	Q1529K	C	A	missense		Het	probably benign	0.136	0.069	phenotype	04/24/2013
25	31656		Dtna	0.345	R0390	G1	225	Y		18	23597501	P315L	C	T	missense		Het	probably damaging	1.000	0.174	phenotype	04/24/2013
26	31642		Ep300	1.000	R0390	G1	225	Y		15	81640116	S1382P	T	C	missense		Het	unknown		0.888	phenotype	04/24/2013
27	31625		Fat2	0.000	R0390	G1	225	Y		11	55310777	N490K	A	T	missense		Het	probably damaging	0.994	0.736	phenotype	04/24/2013
28	31576		Flg2	0.169	R0390	G1	225	Y		3	93200355		T	A	splice site		Het	probably benign				04/24/2013
29	31585		Gm13084	0.075	R0390	G1	225	Y		4	143811699	D234V	T	A	missense		Het	probably benign	0.087	0.090		04/24/2013
30	65413		Gpatch1	1.000	R0390	G1	146	Y		7	35281381		T	C	intron		Het	probably benign		0.066		08/08/2013
31	31646		Grin2a	0.468	R0390	G1	221	N		16	9579585	K879N	C	A	missense		Het	possibly damaging	0.847		phenotype	04/24/2013
32	31615		Hacd3	0.124	R0390	G1	225	Y		9	65001022	I164S	A	C	missense		Het	possibly damaging	0.895	0.876		04/24/2013
33	31613		Hinfp	1.000	R0390	G1	225	Y		9	44298948	C197G	A	C	missense		Het	probably damaging	1.000	0.970	phenotype	04/24/2013
34	31570		Hsd17b12	1.000	R0390	G1	225	Y		2	94114990		T	C	splice site		Het	probably benign			phenotype	04/24/2013
35	31577		Hsd3b1	0.091	R0390	G1	225	Y		3	98853039	L212Q	A	T	missense		Het	probably damaging	0.999	0.754	phenotype	04/24/2013
36	31628		Ifrd1	0.581	R0390	G1	225	Y		12	40214094		C	T	splice site		Het	probably null		0.079	phenotype	04/24/2013
37	31649		Igf2bp2	0.233	R0390	G1	225	Y		16	22081801	F129L	A	G	missense		Het	possibly damaging	0.867	0.070	phenotype	04/24/2013
38	31610		Kirrel3	0.220	R0390	G1	225	Y		9	35020163	I409N	T	A	missense		Het	probably damaging	1.000	0.577	phenotype	04/24/2013
39	65412		Klhdc10	0.327	R0390	G1	128	Y		6	30447412	I204T	T	C	missense		Het	probably damaging	0.984	0.552		08/08/2013
40	31583		Kpna6	0.000	R0390	G1	225	Y		4	129657804	S65R	A	T	missense		Het	possibly damaging	0.613	0.073	phenotype	04/24/2013
41	31655		Lama3	1.000	R0390	G1	225	Y		18	12407563	D308V	A	T	missense		Het	probably benign	0.102	0.090	phenotype	04/24/2013
42	98815		Larp4b	0.509	R0390	G1	185	Y		13	9158107		T	A	intron		Het	probably null		0.976	phenotype	01/10/2014
43	65410		Lgr6	0.000	R0390	G1	225	Y		1	134994010	A199T	C	T	missense		Het	probably damaging	1.000	0.165	phenotype	08/08/2013
44	31654		Lyzl1	0.061	R0390	G1	225	Y		18	4169175	T11S	A	T	missense		Het	probably benign	0.012	0.074	phenotype	04/24/2013
45	31584		Man1c1	0.740	R0390	G1	225	Y		4	134578315	L366P	A	G	missense		Het	probably damaging	0.995	0.921		04/24/2013
46	31598		Mef2a	1.000	R0390	G1	225	Y		7	67251724	M100T	A	G	missense		Het	probably damaging	0.960	0.207	phenotype	04/24/2013
47	31564		Mettl13	0.361	R0390	G1	225	Y		1	162538889	H474Y	G	A	missense		Het	possibly damaging	0.514	0.449		04/24/2013
48	31607		Mmp3	0.074	R0390	G1	225	Y		9	7451320	D352G	A	G	missense		Het	probably benign	0.287	0.196	phenotype	04/24/2013
49	31616		Mns1	0.119	R0390	G1	225	Y		9	72452804	I412T	T	C	missense		Het	probably damaging	1.000	0.164	phenotype	04/24/2013
50	31623		Mon2	0.819	R0390	G1	193	Y		10	123007021	D1501G	T	C	missense		Het	probably null	0.052	0.612		04/24/2013
51	31650		Mylk	0.000	R0390	G1	225	Y		16	34875620	G242W	G	T	missense		Het	probably damaging	0.974	0.241	phenotype	04/24/2013
52	31562		Nav1	0.930	R0390	G1	225	Y		1	135449966	D1715G	T	C	missense		Het	possibly damaging	0.802	0.226	phenotype	04/24/2013
53	31645		Nckap1l	0.883	R0390	G1	206	Y		15	103453883	S2P	T	C	missense		Het	probably damaging	1.000	0.105	phenotype	04/24/2013
54	31603		Nek3	0.000	R0390	G1	196	Y		8	22128729		A	T	unclassified		Het	probably benign		0.060	phenotype	04/24/2013
55	261836		Nfrkb	0.678	R0390	G1	209	Y		9	31388897		A	G	start gained		Het	probably benign				02/04/2015
56	31592		Nlrp4d	0.000	R0390	G1	225	Y		7	10388778	D53G	T	C	missense		Het	probably benign	0.044	0.090		04/24/2013
57	31632		Nol8	1.000	R0390	G1	225	Y		13	49662152	S561P	T	C	missense		Het	probably damaging	0.999	0.093	phenotype	04/24/2013
58	31565		Nuf2	0.947	R0390	G1	195	Y		1	169525297		A	C	unclassified		Het	probably benign		0.090	phenotype	04/24/2013
59	31631		Ofcc1	0.000	R0390	G1	225	Y		13	40015313	D866V	T	A	missense		Het	possibly damaging	0.848	0.179	phenotype	04/24/2013
60	31651		Olfr195	0.156	R0390	G1	225	Y		16	59149299	I150V	A	G	missense		Het	probably benign	0.006	0.090	phenotype	04/24/2013
61	31567		Optn	0.196	R0390	G1	225	Y		2	5046195	L125P	A	G	missense		Het	probably benign	0.000	0.090	phenotype	04/24/2013
62	31602		Otoa	0.000	R0390	G1	225	Y		7	121131341	F588Y	T	A	missense		Het	probably benign	0.074	0.120	phenotype	04/24/2013
63	31580		Pappa	0.657	R0390	G1	225	Y		4	65351613		T	A	splice site		Het	probably null		0.976	phenotype	04/24/2013
64	31578		Pde5a	0.668	R0390	G1	193	Y		3	122835583	C635W	T	G	missense		Het	probably damaging	1.000	0.647	phenotype	04/24/2013
65	31641		Pdgfb	1.000	R0390	G1	225	Y		15	80003419		A	T	splice site		Het	probably null		0.976	phenotype	04/24/2013
66	31614		Pih1d2	0.059	R0390	G1	225	Y		9	50621046	C135S	T	A	missense		Het	probably damaging	0.998	0.140		04/24/2013
67	31575		Plcg1	1.000	R0390	G1	225	Y		2	160752366	C361F	G	T	missense		Het	probably damaging	1.000	0.952	phenotype	04/24/2013
68	65414		Ppp4r4	0.134	R0390	G1	122	Y		12	103601360		T	C	splice site		Het	probably benign			phenotype	08/08/2013
69	31609		Prdm10	1.000	R0390	G1	163	Y		9	31349268		G	A	critical splice donor site	1 bp	Het	probably null		0.948	phenotype	04/24/2013
70	31558		Prex2	0.289	R0390	G1	183	Y		1	11089706		T	A	splice site		Het	probably null		0.976	phenotype	04/24/2013
71	261835		Prss56	0.000	R0390	G1	174	N		1	87184730		T	G	intron		Het	probably null			phenotype	02/04/2015
72	31617		Prtg	0.718	R0390	G1	225	Y		9	72844958	K209E	A	G	missense		Het	probably benign	0.242	0.105	phenotype	04/24/2013
73	31563		Ptprc	0.304	R0390	G1	225	Y		1	138122575	T36I	G	A	missense		Het	possibly damaging	0.713	0.182	phenotype	04/24/2013
74	31595		Rasgrp4	0.000	R0390	G1	190	Y		7	29145860	Y302C	A	G	missense		Het	probably damaging	1.000	0.958	phenotype	04/24/2013
75	31557		Rb1cc1	1.000	R0390	G1	225	Y		1	6248634	M759K	T	A	missense		Het	probably damaging	0.998	0.445	phenotype	04/24/2013
76	31618		Rbm15b	0.363	R0390	G1	225	Y		9	106885998	M324L	T	A	missense		Het	probably benign	0.026	0.063	phenotype	04/24/2013
77	31638		Rcbtb2	0.112	R0390	G1	225	Y		14	73178547	V500A	T	C	missense		Het	probably damaging	0.960	0.141	phenotype	04/24/2013
78	31630		Rgs6	0.236	R0390	G1	225	Y		12	83133677	K434R	A	G	missense		Het	probably damaging	0.999	0.467	phenotype	04/24/2013
79	31559		Rims1	0.637	R0390	G1	225	Y		1	22596526	A125T	C	T	missense		Het	possibly damaging	0.922	0.058	phenotype	04/24/2013
80	31611		Robo3	1.000	R0390	G1	225	Y		9	37422177	V746A	A	G	missense		Het	probably benign	0.001	0.090	phenotype	04/24/2013
81	65415		Rtl1	1.000	R0390	G1	81	N		12	109591386	E1340K	C	T	missense		Het	unknown			phenotype	08/08/2013
82	31637		Sacs	0.000	R0390	G1	225	Y		14	61205640	D1712N	G	A	missense		Het	possibly damaging	0.923	0.106	phenotype	04/24/2013
83	31594		Samd4b	0.508	R0390	G1	225	Y		7	28403977	P19S	G	A	missense		Het	probably benign	0.133	0.064		04/24/2013
84	31574		Samhd1	0.000	R0390	G1	225	Y		2	157114231	Y347C	T	C	missense		Het	probably damaging	1.000	0.975	phenotype	04/24/2013
85	31572		Sema6d	0.000	R0390	G1	225	Y		2	124658490	I393N	T	A	missense		Het	probably damaging	1.000	0.931	phenotype	04/24/2013
86	31579		Sigmar1	0.000	R0390	G1	179	Y		4	41741243	A4T	C	T	missense		Het	probably benign	0.001	0.073	phenotype	04/24/2013
87	31581		Skint9	0.109	R0390	G1	225	Y		4	112389179	L245F	C	A	missense		Het	probably benign	0.213	0.090		04/24/2013
88	31561		Slc35f5	0.436	R0390	G1	225	Y		1	125585095	L372P	T	C	missense		Het	probably damaging	1.000	0.897		04/24/2013
89	31643		Smc1b	0.596	R0390	G1	225	Y		15	85066277	I1182N	A	T	missense		Het	probably damaging	1.000	0.662	phenotype	04/24/2013
90	31566		Smyd3	0.000	R0390	G1	225	Y		1	178957573		A	G	splice site		Het	probably benign		0.090	phenotype	04/24/2013
91	31633		Sptlc1	1.000	R0390	G1	225	Y		13	53337612	D417G	T	C	missense		Het	probably benign	0.059	0.153	phenotype	04/24/2013
92	31635		Sv2c	0.056	R0390	G1	225	Y		13	96088708	N31S	T	C	missense		Het	probably benign	0.000	0.059	phenotype	04/24/2013
93	31597		Tjp1	1.000	R0390	G1	225	Y		7	65314990	D811G	T	C	missense		Het	probably damaging	1.000	0.309	phenotype	04/24/2013
94	31636		Top2b	0.939	R0390	G1	225	Y		14	16418442	T1221A	A	G	missense		Het	probably benign	0.001	0.093	phenotype	04/24/2013
95	31622		Tph2	0.309	R0390	G1	194	Y		10	115174109	D182G	T	C	missense		Het	probably damaging	0.998	0.926	phenotype	04/24/2013
96	31571		Traf6	1.000	R0390	G1	190	Y		2	101688588	Q141*	C	T	nonsense		Het	probably null		0.976	phenotype	04/24/2013
97	31569		Ttn	1.000	R0390	G1	225	Y		2	76756931	D21574G	T	C	missense		Het	probably damaging	1.000	0.151	phenotype	04/24/2013
98	31596		Uba2	1.000	R0390	G1	225	Y		7	34151021	N367I	T	A	missense		Het	probably benign	0.100	0.110	phenotype	04/24/2013
99	31624		Ube2b	0.649	R0390	G1	182	Y		11	51988602		T	C	splice site		Het	probably benign			phenotype	04/24/2013
100	31639		Ubr5	1.000	R0390	G1	225	Y		15	38030672	L426I	G	T	missense		Het	probably benign	0.194	0.071	phenotype	04/24/2013
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