Mutagenetix > Incidental Mutations

Incidental Mutation 'R2109:Tenm3'

232376

Institutional Source

Beutler Lab

Gene Symbol

Tenm3

Ensembl Gene

ENSMUSG00000031561

Gene Name

teneurin transmembrane protein 3

Synonyms

Ten-m3, Odz3, 2610100B16Rik

MMRRC Submission

040113-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

R2109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48227682-48843951 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 48343349 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 202 (S202A)

Ref Sequence

ENSEMBL: ENSMUSP00000105975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033965] [ENSMUST00000110346] [ENSMUST00000190840]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033965
AA Change: S474A

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033965
Gene: ENSMUSG00000031561
AA Change: S474A

Domain	Start	End	E-Value	Type
Pfam:Ten_N	11	177	6.9e-91	PFAM
Pfam:Ten_N	171	308	1e-72	PFAM
transmembrane domain	309	331	N/A	INTRINSIC
EGF	517	545	2.32e-1	SMART
EGF_like	548	576	4.11e1	SMART
EGF	581	610	1.69e1	SMART
EGF	613	642	1.35e-2	SMART
EGF	647	677	6.11e-1	SMART
EGF	680	708	7.95e0	SMART
EGF	711	739	1.28e1	SMART
EGF	751	783	1.64e-1	SMART
PDB:1RWL\|A	1276	1511	9e-6	PDB
low complexity region	2593	2602	N/A	INTRINSIC
Pfam:Tox-GHH	2631	2708	1.5e-34	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110346
AA Change: S202A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105975
Gene: ENSMUSG00000031561
AA Change: S202A

Domain	Start	End	E-Value	Type
Pfam:Ten_N	1	36	1.1e-14	PFAM
transmembrane domain	37	59	N/A	INTRINSIC
EGF	245	273	2.32e-1	SMART
EGF_like	276	304	4.11e1	SMART
EGF	309	338	1.69e1	SMART
EGF	341	370	1.35e-2	SMART
EGF	375	405	6.11e-1	SMART
EGF	408	436	7.95e0	SMART
EGF	439	467	1.28e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190840
AA Change: S474A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140141
Gene: ENSMUSG00000031561
AA Change: S474A

Domain	Start	End	E-Value	Type
Pfam:Ten_N	10	182	7.6e-77	PFAM
Pfam:Ten_N	168	308	6.6e-50	PFAM
transmembrane domain	309	331	N/A	INTRINSIC
EGF	517	545	2.32e-1	SMART
EGF_like	548	576	4.11e1	SMART
EGF	581	610	1.69e1	SMART
EGF	613	642	1.35e-2	SMART
EGF	647	677	6.11e-1	SMART
EGF	680	708	7.95e0	SMART
EGF	711	739	1.28e1	SMART
EGF	751	783	1.64e-1	SMART
PDB:1RWL\|A	1276	1511	9e-6	PDB
low complexity region	2593	2602	N/A	INTRINSIC
Pfam:Tox-GHH	2630	2708	3.2e-35	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large transmembrane protein that may be involved in the regulation of neuronal development. Mutation in this gene causes microphthalmia. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null mutation display abnormal ipsilateral retinal ganglion cell projections and impaired performance in visually mediated behavioral tasks. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	T	9: 94,524,445	I303N	probably damaging	Het
1700001C02Rik	G	A	5: 30,480,507	G66E	probably damaging	Het
2410002F23Rik	G	T	7: 44,251,011	R113S	probably benign	Het
Ackr2	A	T	9: 121,908,960	I134F	probably damaging	Het
Actr3b	T	A	5: 25,831,711	I174N	possibly damaging	Het
Akap9	T	A	5: 4,044,847	S2214T	possibly damaging	Het
Arhgef12	C	A	9: 42,979,472	R986L	possibly damaging	Het
BC049762	T	A	11: 51,254,437	I108F	possibly damaging	Het
Brap	G	T	5: 121,663,359	S59I	possibly damaging	Het
Btnl1	C	T	17: 34,379,604	H65Y	probably damaging	Het
C1s2	T	C	6: 124,635,045	T121A	probably damaging	Het
Capn1	T	A	19: 6,014,358	Y37F	probably benign	Het
Ccdc39	T	C	3: 33,815,501	K726E	probably damaging	Het
Cd300lb	G	A	11: 114,926,039	S195F	probably damaging	Het
Cenpf	T	C	1: 189,679,067	K307E	probably damaging	Het
Chodl	A	C	16: 78,941,363	N73T	possibly damaging	Het
Crnn	A	T	3: 93,148,440	M178L	probably benign	Het
Cyp4a12b	A	G	4: 115,432,913	D221G	probably damaging	Het
D10Wsu102e	C	T	10: 83,365,792	S143L	probably damaging	Het
Dmxl2	A	G	9: 54,393,813	V2338A	probably benign	Het
Dnah9	G	T	11: 66,037,585	P2086Q	probably damaging	Het
Dsg2	A	G	18: 20,592,289	I486V	probably benign	Het
E2f8	A	G	7: 48,875,107	S265P	probably damaging	Het
Eif1b	A	G	9: 120,494,230	D52G	probably benign	Het
Etl4	A	T	2: 20,785,342	T602S	probably benign	Het
Exoc3l2	A	T	7: 19,489,134		probably benign	Het
Fbxl6	C	A	15: 76,536,973	V297F	probably damaging	Het
Fgr	T	A	4: 132,998,475	N398K	probably benign	Het
G3bp1	A	G	11: 55,489,160	R107G	probably damaging	Het
Gp2	A	T	7: 119,452,932	N186K	probably benign	Het
Hbs1l	T	A	10: 21,341,932	L249*	probably null	Het
Hmgcs2	T	A	3: 98,297,021	L246*	probably null	Het
Hsp90ab1	G	T	17: 45,569,328	H96Q	probably benign	Het
Ibtk	C	T	9: 85,706,550	V1078I	probably benign	Het
Ltn1	T	C	16: 87,415,642	D677G	probably benign	Het
Lyst	C	T	13: 13,712,820	T3078I	possibly damaging	Het
Mamdc4	A	G	2: 25,569,390	F199S	probably damaging	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mki67	G	A	7: 135,697,863	T1814I	probably damaging	Het
Mttp	A	T	3: 138,095,002	F766I	probably benign	Het
Nbl1	T	A	4: 139,083,604		probably null	Het
Nmrk1	T	A	19: 18,641,438	L118Q	probably damaging	Het
Olfr1381	T	G	11: 49,552,433	S229A	probably damaging	Het
Oog3	A	T	4: 144,159,512	L172H	probably damaging	Het
Osbpl1a	T	G	18: 12,759,400	Q332P	probably damaging	Het
Pik3cg	A	G	12: 32,193,710	F921L	possibly damaging	Het
Plch2	T	C	4: 154,984,597	S1086G	possibly damaging	Het
Plekha5	A	G	6: 140,424,216	T18A	possibly damaging	Het
Pogz	T	A	3: 94,878,965	S955T	probably benign	Het
Pot1b	A	T	17: 55,653,413	I639N	probably benign	Het
Prkdc	T	C	16: 15,687,390	I852T	probably benign	Het
Prps1l1	A	G	12: 34,985,522	K212R	probably benign	Het
Ptpn5	A	G	7: 47,086,059	Y304H	probably damaging	Het
Ralgapa1	A	G	12: 55,776,188	I281T	possibly damaging	Het
Rgs22	A	T	15: 36,099,734	Y278*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	T	A	11: 119,442,663	Y2899*	probably null	Het
Rttn	C	T	18: 88,986,073	T397I	possibly damaging	Het
Sacs	G	T	14: 61,173,453		probably null	Het
Sbf2	G	T	7: 110,461,212	Q182K	probably damaging	Het
Sec14l5	C	T	16: 5,167,104	R105*	probably null	Het
Sh2b1	A	T	7: 126,472,364	D216E	possibly damaging	Het
Sh3gl3	A	G	7: 82,270,800	N72S	possibly damaging	Het
Slc12a1	A	T	2: 125,173,699	I391F	probably damaging	Het
Slc36a2	G	A	11: 55,181,555	A77V	probably damaging	Het
Smc2	A	T	4: 52,474,987	I888L	probably benign	Het
Smoc1	C	T	12: 81,150,676	T194M	probably damaging	Het
Sorcs1	C	T	19: 50,678,192	G93R	probably benign	Het
Sox30	T	G	11: 45,991,768	F542V	probably damaging	Het
Svep1	A	G	4: 58,206,030	V116A	possibly damaging	Het
Synj2	A	G	17: 6,013,691	D330G	probably benign	Het
Tg	C	T	15: 66,729,594	T151I	probably benign	Het
Tnfaip2	A	G	12: 111,448,093	E361G	probably damaging	Het
Tnk1	A	T	11: 69,855,183	D305E	probably damaging	Het
Tpp1	A	G	7: 105,749,970	L133P	probably damaging	Het
Trappc1	T	A	11: 69,324,417	M41K	probably damaging	Het
Tsen54	A	G	11: 115,815,723	D9G	probably damaging	Het
Ttn	T	A	2: 76,974,254	I225F	probably damaging	Het
Ube4b	T	C	4: 149,372,841	K313R	probably benign	Het
Vps50	T	C	6: 3,555,379	V425A	probably damaging	Het
Wbp2	A	T	11: 116,080,619	Y153*	probably null	Het
Xrn1	A	G	9: 95,979,220	S478G	probably benign	Het
Zfp354c	T	C	11: 50,817,142	E77G	probably benign	Het
Zfp462	T	C	4: 55,008,496	M154T	probably benign	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp763	G	T	17: 33,019,778	A131E	probably benign	Het
Zfp931	A	T	2: 178,069,858	V32E	probably null	Het

Other mutations in Tenm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Tenm3	APN	8	48417060	missense	probably damaging	1.00
IGL00538:Tenm3	APN	8	48236025	missense	probably damaging	1.00
IGL00719:Tenm3	APN	8	48279042	missense	probably benign	0.39
IGL00720:Tenm3	APN	8	48276421	missense	probably damaging	0.98
IGL00870:Tenm3	APN	8	48417132	missense	probably benign	0.00
IGL00976:Tenm3	APN	8	48256841	missense	probably benign	0.14
IGL01469:Tenm3	APN	8	48236423	missense	probably damaging	1.00
IGL01508:Tenm3	APN	8	48276645	missense	probably benign	0.09
IGL01590:Tenm3	APN	8	48228802	missense	probably damaging	1.00
IGL01610:Tenm3	APN	8	48254477	missense	probably damaging	1.00
IGL01874:Tenm3	APN	8	48236758	nonsense	probably null
IGL01892:Tenm3	APN	8	48276396	missense	probably benign	0.09
IGL02098:Tenm3	APN	8	48276576	missense	possibly damaging	0.94
IGL02382:Tenm3	APN	8	48235476	missense	probably damaging	1.00
IGL02397:Tenm3	APN	8	48236694	missense	possibly damaging	0.94
IGL02475:Tenm3	APN	8	48279198	splice site	probably benign
IGL02502:Tenm3	APN	8	48288016	missense	probably damaging	1.00
IGL02508:Tenm3	APN	8	48299639	missense	probably benign	0.30
IGL02543:Tenm3	APN	8	48298956	missense	probably damaging	1.00
IGL02723:Tenm3	APN	8	48276903	missense	probably benign	0.02
IGL03037:Tenm3	APN	8	48298878	missense	possibly damaging	0.90
IGL03160:Tenm3	APN	8	48646418	missense	probably benign	0.05
IGL03268:Tenm3	APN	8	48235523	missense	probably damaging	1.00
IGL02988:Tenm3	UTSW	8	48235346	missense	probably damaging	0.99
PIT4431001:Tenm3	UTSW	8	48235607	missense	probably damaging	1.00
PIT4504001:Tenm3	UTSW	8	48293657	missense	probably damaging	1.00
R0079:Tenm3	UTSW	8	48343345	missense	possibly damaging	0.90
R0121:Tenm3	UTSW	8	48342659	missense	probably damaging	0.99
R0123:Tenm3	UTSW	8	48674472	missense	probably damaging	1.00
R0134:Tenm3	UTSW	8	48674472	missense	probably damaging	1.00
R0147:Tenm3	UTSW	8	48236720	missense	probably damaging	1.00
R0148:Tenm3	UTSW	8	48236720	missense	probably damaging	1.00
R0309:Tenm3	UTSW	8	48341034	missense	probably damaging	1.00
R0322:Tenm3	UTSW	8	48236912	splice site	probably benign
R0335:Tenm3	UTSW	8	48232105	missense	probably damaging	1.00
R0355:Tenm3	UTSW	8	48228975	missense	probably damaging	1.00
R0411:Tenm3	UTSW	8	48287791	missense	possibly damaging	0.61
R0505:Tenm3	UTSW	8	48341160	splice site	probably benign
R0573:Tenm3	UTSW	8	48674399	splice site	probably benign
R0599:Tenm3	UTSW	8	48277710	missense	probably damaging	1.00
R0616:Tenm3	UTSW	8	48276156	missense	possibly damaging	0.76
R0637:Tenm3	UTSW	8	48236525	missense	probably damaging	1.00
R0726:Tenm3	UTSW	8	48236594	missense	probably damaging	1.00
R0840:Tenm3	UTSW	8	48335742	missense	probably damaging	0.99
R0981:Tenm3	UTSW	8	48298965	missense	probably damaging	1.00
R1006:Tenm3	UTSW	8	48228542	missense	probably damaging	1.00
R1199:Tenm3	UTSW	8	48235582	missense	probably damaging	0.99
R1223:Tenm3	UTSW	8	48240396	missense	possibly damaging	0.72
R1240:Tenm3	UTSW	8	48287893	missense	possibly damaging	0.74
R1394:Tenm3	UTSW	8	48276400	missense	probably benign
R1455:Tenm3	UTSW	8	48279048	missense	possibly damaging	0.87
R1459:Tenm3	UTSW	8	48235971	missense	probably damaging	1.00
R1473:Tenm3	UTSW	8	48310625	missense	probably damaging	1.00
R1501:Tenm3	UTSW	8	48343316	missense	probably damaging	0.99
R1507:Tenm3	UTSW	8	48287822	missense	probably benign	0.01
R1522:Tenm3	UTSW	8	48395576	missense	probably damaging	1.00
R1524:Tenm3	UTSW	8	48228981	missense	possibly damaging	0.92
R1553:Tenm3	UTSW	8	48236421	missense	probably damaging	1.00
R1572:Tenm3	UTSW	8	48228993	missense	possibly damaging	0.94
R1583:Tenm3	UTSW	8	48279074	missense	probably benign	0.09
R1676:Tenm3	UTSW	8	48417119	missense	possibly damaging	0.83
R1732:Tenm3	UTSW	8	48310634	missense	probably damaging	1.00
R1768:Tenm3	UTSW	8	48232104	missense	probably damaging	1.00
R1777:Tenm3	UTSW	8	48417179	missense	probably benign	0.05
R1793:Tenm3	UTSW	8	48674544	missense	probably damaging	0.98
R1801:Tenm3	UTSW	8	48276256	missense	probably benign	0.39
R1863:Tenm3	UTSW	8	48276346	missense	probably benign	0.20
R1898:Tenm3	UTSW	8	48310761	missense	probably damaging	1.00
R1971:Tenm3	UTSW	8	48236313	missense	probably damaging	1.00
R1972:Tenm3	UTSW	8	48228591	missense	probably damaging	1.00
R1996:Tenm3	UTSW	8	48228668	missense	probably damaging	1.00
R2061:Tenm3	UTSW	8	48342256	critical splice donor site	probably null
R2124:Tenm3	UTSW	8	48417006	critical splice donor site	probably null
R2190:Tenm3	UTSW	8	48395544	missense	probably damaging	1.00
R2204:Tenm3	UTSW	8	48674550	missense	probably benign	0.17
R2233:Tenm3	UTSW	8	48276169	missense	probably benign	0.04
R2234:Tenm3	UTSW	8	48276169	missense	probably benign	0.04
R2235:Tenm3	UTSW	8	48276169	missense	probably benign	0.04
R2237:Tenm3	UTSW	8	48342337	missense	probably damaging	1.00
R2418:Tenm3	UTSW	8	48276658	missense	possibly damaging	0.87
R2419:Tenm3	UTSW	8	48276658	missense	possibly damaging	0.87
R2435:Tenm3	UTSW	8	48287953	missense	probably damaging	1.00
R2483:Tenm3	UTSW	8	48240270	missense	probably damaging	0.99
R3406:Tenm3	UTSW	8	48228555	missense	probably damaging	1.00
R3724:Tenm3	UTSW	8	48277746	missense	probably damaging	0.97
R4009:Tenm3	UTSW	8	48349223	missense	probably damaging	1.00
R4210:Tenm3	UTSW	8	48349404	missense	probably damaging	1.00
R4293:Tenm3	UTSW	8	48395658	missense	probably damaging	1.00
R4656:Tenm3	UTSW	8	48293726	missense	probably damaging	1.00
R4663:Tenm3	UTSW	8	48235970	missense	probably damaging	1.00
R4835:Tenm3	UTSW	8	48313236	critical splice donor site	probably null
R4851:Tenm3	UTSW	8	48310621	critical splice donor site	probably null
R4867:Tenm3	UTSW	8	48235821	missense	probably damaging	1.00
R4892:Tenm3	UTSW	8	48276861	missense	probably damaging	0.99
R4895:Tenm3	UTSW	8	48300971	missense	probably damaging	1.00
R4962:Tenm3	UTSW	8	48278961	nonsense	probably null
R4995:Tenm3	UTSW	8	48229137	missense	possibly damaging	0.87
R4996:Tenm3	UTSW	8	48235826	missense	probably damaging	0.97
R5091:Tenm3	UTSW	8	48342308	missense	probably benign	0.14
R5228:Tenm3	UTSW	8	48236355	missense	probably damaging	1.00
R5253:Tenm3	UTSW	8	48229198	missense	possibly damaging	0.92
R5260:Tenm3	UTSW	8	48236855	missense	probably damaging	1.00
R5363:Tenm3	UTSW	8	48287831	missense	possibly damaging	0.55
R5414:Tenm3	UTSW	8	48236355	missense	probably damaging	1.00
R5427:Tenm3	UTSW	8	48236564	missense	probably damaging	1.00
R5431:Tenm3	UTSW	8	48367377	nonsense	probably null
R5566:Tenm3	UTSW	8	48279006	missense	probably damaging	1.00
R5579:Tenm3	UTSW	8	48236764	missense	probably damaging	1.00
R5656:Tenm3	UTSW	8	48228762	missense	probably damaging	1.00
R5931:Tenm3	UTSW	8	48646498	missense	probably benign	0.00
R5959:Tenm3	UTSW	8	48646447	nonsense	probably null
R5965:Tenm3	UTSW	8	48228508	nonsense	probably null
R6062:Tenm3	UTSW	8	48343406	missense	possibly damaging	0.46
R6151:Tenm3	UTSW	8	48395573	missense	probably damaging	1.00
R6157:Tenm3	UTSW	8	48298808	missense	probably damaging	0.96
R6167:Tenm3	UTSW	8	48254622	missense	possibly damaging	0.46
R6217:Tenm3	UTSW	8	48293665	missense	probably damaging	0.99
R6233:Tenm3	UTSW	8	48417059	missense	probably damaging	1.00
R6270:Tenm3	UTSW	8	48367394	missense	probably damaging	0.98
R6329:Tenm3	UTSW	8	48276849	missense	probably damaging	0.99
R6466:Tenm3	UTSW	8	48236063	missense	probably damaging	0.97
R6515:Tenm3	UTSW	8	48417222	missense	probably benign
R6516:Tenm3	UTSW	8	48417222	missense	probably benign
R6747:Tenm3	UTSW	8	48343243	missense	probably damaging	1.00
R6782:Tenm3	UTSW	8	48646256	critical splice donor site	probably null
R6788:Tenm3	UTSW	8	48674493	missense	probably damaging	1.00
R6823:Tenm3	UTSW	8	48256837	missense	probably damaging	0.99
R6846:Tenm3	UTSW	8	48276738	missense	probably benign	0.39
R6913:Tenm3	UTSW	8	48298937	missense	probably damaging	0.99
R6941:Tenm3	UTSW	8	48674416	missense	probably damaging	0.99
R6950:Tenm3	UTSW	8	48240479	nonsense	probably null
R6968:Tenm3	UTSW	8	48236439	missense	probably damaging	1.00
R6970:Tenm3	UTSW	8	48236439	missense	probably damaging	1.00
R6993:Tenm3	UTSW	8	48236439	missense	probably damaging	1.00
R7003:Tenm3	UTSW	8	48240444	missense	probably damaging	1.00
R7125:Tenm3	UTSW	8	48674553	missense	probably benign	0.00
R7140:Tenm3	UTSW	8	48292236	missense	probably damaging	1.00
R7222:Tenm3	UTSW	8	48300969	missense	probably damaging	1.00
R7232:Tenm3	UTSW	8	48235935	missense	probably damaging	1.00
R7336:Tenm3	UTSW	8	48236177	missense	possibly damaging	0.93
R7417:Tenm3	UTSW	8	48236183	missense	probably damaging	1.00
R7526:Tenm3	UTSW	8	48287812	missense	probably damaging	0.96
R7527:Tenm3	UTSW	8	48276600	missense	possibly damaging	0.60
R7616:Tenm3	UTSW	8	48341049	missense	possibly damaging	0.56
R7662:Tenm3	UTSW	8	48335727	missense	probably benign	0.27
R7734:Tenm3	UTSW	8	48646333	missense	probably damaging	1.00
R7802:Tenm3	UTSW	8	48236465	missense	probably damaging	1.00
R7812:Tenm3	UTSW	8	48276300	missense	probably benign	0.01
X0010:Tenm3	UTSW	8	48287829	missense	probably damaging	0.98
X0025:Tenm3	UTSW	8	48236477	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACAGAGACTAGGCTGTAG -3'
(R):5'- AGGCTTCTGTCACTTGGACC -3'

Sequencing Primer
(F):5'- CTGTAGGTGGAAAAGGATGCTTG -3'
(R):5'- CAAGAACTGCTTTCCAATACTGTG -3'

Posted On

2014-09-18