Mutagenetix > Incidental Mutation

Incidental Mutation 'R0501:Tmem214'

47108

Institutional Source

Beutler Lab

Gene Symbol

Tmem214

Ensembl Gene

ENSMUSG00000038828

Gene Name

transmembrane protein 214

Synonyms

MMRRC Submission

038696-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30868012-30879180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30872532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 251 (R251L)

Ref Sequence

ENSEMBL: ENSMUSP00000144615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114716] [ENSMUST00000201203]

AlphaFold

Q8BM55

Predicted Effect

probably damaging
Transcript: ENSMUST00000046349
AA Change: R251L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037484
Gene: ENSMUSG00000038828
AA Change: R251L

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC
Pfam:DUF2359	217	683	6.9e-246	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114716
AA Change: R206L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828
AA Change: R206L

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC
Pfam:DUF2359	172	638	8e-247	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201203
AA Change: R251L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828
AA Change: R251L

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC
Pfam:DUF2359	217	683	6.9e-246	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202951

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,372	S415P	probably benign	Het
Adam19	C	T	11: 46,123,130	P316S	probably damaging	Het
Adamts2	A	G	11: 50,668,145	D229G	probably benign	Het
Adcy10	C	T	1: 165,510,390	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,559,150	Y1379C	probably damaging	Het
Akap9	T	C	5: 3,970,685	L1132P	probably damaging	Het
Aoah	A	G	13: 21,005,073	T489A	probably benign	Het
Apc2	T	C	10: 80,315,124	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,163,696	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,335,470		noncoding transcript	Het
Cacna1h	A	T	17: 25,388,667	V892E	probably damaging	Het
Car4	G	A	11: 84,963,442	V72I	probably benign	Het
Chst3	A	G	10: 60,186,227	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,285,491	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,618,335	D471V	probably damaging	Het
Cntrob	G	A	11: 69,322,868	S32F	probably damaging	Het
Cpne7	T	A	8: 123,126,255	N200K	possibly damaging	Het
Creb3l3	C	A	10: 81,086,582	M271I	probably benign	Het
Csmd1	T	A	8: 17,027,323	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 134,294,972	T563I	probably damaging	Het
Dmac1	T	G	4: 75,278,176	N26H	unknown	Het
Dopey2	T	C	16: 93,752,862	F230L	probably benign	Het
Dpp6	T	A	5: 27,725,606	I812N	probably damaging	Het
Fabp12	T	C	3: 10,250,143	D48G	probably benign	Het
Fbn1	G	A	2: 125,301,749	T2820M	probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fcho2	A	T	13: 98,764,515	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,876,928	S470P	probably benign	Het
Gm17541	T	G	12: 4,689,730		probably benign	Het
Gm4353	A	T	7: 116,083,471	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,243,306	I69N	probably damaging	Het
Insrr	G	T	3: 87,810,684	A871S	probably benign	Het
Irs2	C	T	8: 11,006,396	V679M	probably damaging	Het
Itpr3	T	A	17: 27,107,289	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,311,716	M1074V	possibly damaging	Het
Kif1a	G	A	1: 93,056,245	R602W	probably damaging	Het
Kif21b	A	T	1: 136,163,099	D1215V	probably benign	Het
Maats1	C	G	16: 38,335,635	M75I	probably damaging	Het
Mapk13	G	A	17: 28,776,353	V183M	probably damaging	Het
Mbp	C	T	18: 82,575,197	S100F	probably damaging	Het
Mcm6	A	G	1: 128,355,636	I44T	probably benign	Het
Ncor1	T	A	11: 62,373,322	D418V	possibly damaging	Het
Nid2	T	A	14: 19,789,668		probably null	Het
Nolc1	T	C	19: 46,078,920	V80A	probably damaging	Het
Olfr1024	A	G	2: 85,905,004	F17L	probably damaging	Het
Olfr1121	A	T	2: 87,371,552	R7W	probably damaging	Het
Olfr1162	A	T	2: 88,050,471	I51N	probably damaging	Het
Olfr1240	T	C	2: 89,439,716	T188A	probably benign	Het
Olfr1338	C	A	4: 118,753,830	C238F	probably benign	Het
Olfr1508	T	A	14: 52,463,926	M1L	possibly damaging	Het
Olfr3	A	T	2: 36,812,480	L204*	probably null	Het
Olfr70	A	C	4: 43,697,079	C31W	probably damaging	Het
Olfr700	G	A	7: 106,805,811	S217F	probably damaging	Het
Olfr705	A	T	7: 106,714,603	M26K	probably benign	Het
Olfr713	A	T	7: 107,036,232	T26S	probably benign	Het
Olfr855	T	A	9: 19,584,618	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,475,112	C38S	probably damaging	Het
Pdia4	A	T	6: 47,801,002	V352E	probably damaging	Het
Pik3c2a	C	A	7: 116,354,055	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,332,530	A184E	possibly damaging	Het
Rsph3a	T	A	17: 7,979,120	L442*	probably null	Het
Scg2	G	C	1: 79,435,603	L468V	probably damaging	Het
Sdk1	A	T	5: 141,937,718	I365L	probably benign	Het
Setdb1	A	G	3: 95,338,829	V595A	probably benign	Het
Slc22a22	T	A	15: 57,249,650	T398S	probably benign	Het
Stk11	C	A	10: 80,126,285	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,558	D222N	probably benign	Het
Tmem132e	T	A	11: 82,435,068	I206N	possibly damaging	Het
Tmem253	T	A	14: 52,018,579	I105N	probably damaging	Het
Toe1	A	G	4: 116,807,485	V12A	probably benign	Het
Top1	C	A	2: 160,714,159	H513N	probably damaging	Het
Tph1	G	T	7: 46,649,988	Y376*	probably null	Het
Trim45	T	A	3: 100,923,219	L103Q	probably damaging	Het
Ttc37	A	C	13: 76,147,806	M1063L	probably benign	Het
Ttn	T	A	2: 76,944,174		probably null	Het
Twnk	T	C	19: 45,007,746	V206A	probably damaging	Het
Ube2z	A	G	11: 96,050,288	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,803,183	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,225,807	T15S	probably benign	Het
Wdr59	C	T	8: 111,458,947	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,308,840	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,962,803	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,205,072	L461P	probably damaging	Het
Zcchc2	T	G	1: 106,016,091	F462C	possibly damaging	Het

Other mutations in Tmem214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Tmem214	APN	5	30876093	missense	probably benign	0.15
IGL02119:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02123:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02124:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02126:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02186:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02395:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02396:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02397:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02400:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02403:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02404:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02539:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02544:Tmem214	APN	5	30872746	missense	probably benign	0.01
IGL02934:Tmem214	APN	5	30871544	missense	probably benign	0.26
PIT4382001:Tmem214	UTSW	5	30871451	missense	possibly damaging	0.89
R0519:Tmem214	UTSW	5	30869668	start codon destroyed	probably null	0.98
R0675:Tmem214	UTSW	5	30871825	missense	possibly damaging	0.70
R1204:Tmem214	UTSW	5	30875790	missense	probably damaging	0.97
R1616:Tmem214	UTSW	5	30871563	nonsense	probably null
R2096:Tmem214	UTSW	5	30876370	missense	probably damaging	1.00
R2219:Tmem214	UTSW	5	30873631	missense	possibly damaging	0.72
R5635:Tmem214	UTSW	5	30871517	missense	probably damaging	1.00
R6003:Tmem214	UTSW	5	30870724	missense	possibly damaging	0.52
R6744:Tmem214	UTSW	5	30874028	missense	probably damaging	1.00
R7208:Tmem214	UTSW	5	30870721	missense	possibly damaging	0.52
R8155:Tmem214	UTSW	5	30871792	missense	possibly damaging	0.56
R8335:Tmem214	UTSW	5	30872122	missense	possibly damaging	0.85
R9562:Tmem214	UTSW	5	30869699	nonsense	probably null
R9565:Tmem214	UTSW	5	30869699	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGAAGCTGTCACGACTCACTATG -3'
(R):5'- GCATCCCATTTTGCTGAAACAGCC -3'

Sequencing Primer
(F):5'- ACGACTCACTATGTGGCACTG -3'
(R):5'- TGAAACAGCCTCTTGTGGAC -3'

Posted On

2013-06-12