Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02126:Tmem214'

280870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem214

Ensembl Gene

ENSMUSG00000038828

Gene Name

transmembrane protein 214

Synonyms

1110039B18Rik, 4921530J21Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

IGL02126

Quality Score

Status

Chromosome

Chromosomal Location

31026923-31034813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31030090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 296 (A296T)

Ref Sequence

ENSEMBL: ENSMUSP00000144615 (fasta)

Gene Model

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

AlphaFold

Q8BM55

Predicted Effect

probably benign
Transcript: ENSMUST00000114716
AA Change: A251T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828
AA Change: A251T

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 benign
Transcript: ENSMUST00000201203
AA Change: A296T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828
AA Change: A296T

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Angptl3	T	C	4: 98,919,738 (GRCm39)		probably null	Het
Atoh1	T	C	6: 64,706,334 (GRCm39)	W10R	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Ccm2	A	G	11: 6,544,154 (GRCm39)	T317A	probably damaging	Het
Ccnt1	A	T	15: 98,465,484 (GRCm39)	W12R	probably damaging	Het
Celf1	T	A	2: 90,831,408 (GRCm39)	L79H	probably damaging	Het
Cmip	T	C	8: 118,175,770 (GRCm39)	V423A	probably damaging	Het
Ddr1	T	A	17: 35,999,481 (GRCm39)	I431F	probably damaging	Het
Dnah6	A	G	6: 73,080,149 (GRCm39)	L2343P	probably benign	Het
Duox1	A	G	2: 122,176,817 (GRCm39)	D1446G	probably benign	Het
Erich3	A	G	3: 154,419,599 (GRCm39)	H231R	possibly damaging	Het
Fam221b	T	A	4: 43,666,450 (GRCm39)	I54F	probably benign	Het
Fcgbpl1	G	A	7: 27,839,281 (GRCm39)	V365M	probably damaging	Het
Galntl5	T	C	5: 25,394,839 (GRCm39)	F69L	possibly damaging	Het
Gba2	T	G	4: 43,567,918 (GRCm39)		probably null	Het
Gbf1	C	A	19: 46,240,556 (GRCm39)	P46Q	probably damaging	Het
Gimap6	T	G	6: 48,679,635 (GRCm39)	S134R	probably damaging	Het
Gm5424	A	C	10: 61,907,377 (GRCm39)		noncoding transcript	Het
Hexb	T	C	13: 97,314,532 (GRCm39)	K404E	possibly damaging	Het
Hs3st3a1	G	A	11: 64,327,331 (GRCm39)	V147M	probably damaging	Het
Hsd17b4	T	C	18: 50,315,063 (GRCm39)	V610A	probably benign	Het
Loxl3	T	A	6: 83,025,628 (GRCm39)	W329R	probably damaging	Het
Lrrc52	A	G	1: 167,273,575 (GRCm39)	F247S	probably damaging	Het
Naa38	C	T	11: 69,287,045 (GRCm39)	R42W	probably damaging	Het
Nadsyn1	G	A	7: 143,357,753 (GRCm39)	Q485*	probably null	Het
Nid1	A	G	13: 13,663,743 (GRCm39)		probably null	Het
Ofcc1	T	C	13: 40,362,251 (GRCm39)	T224A	probably benign	Het
Or5m11b	T	G	2: 85,806,517 (GRCm39)	I310S	probably benign	Het
Palld	A	G	8: 62,330,476 (GRCm39)	Y134H	possibly damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pfn3	T	C	13: 55,562,699 (GRCm39)	D94G	possibly damaging	Het
Pkhd1	G	A	1: 20,187,419 (GRCm39)	R3630C	probably damaging	Het
Por	T	A	5: 135,744,829 (GRCm39)	F31I	probably benign	Het
Ppp1r12c	T	C	7: 4,492,858 (GRCm39)	E127G	probably benign	Het
Ppp1r9a	T	A	6: 5,156,229 (GRCm39)	S1162T	probably damaging	Het
Psen2	C	A	1: 180,057,488 (GRCm39)	A297S	probably benign	Het
Rpusd2	G	A	2: 118,869,119 (GRCm39)	R514Q	probably damaging	Het
Rxrg	A	G	1: 167,462,029 (GRCm39)	M235V	probably damaging	Het
Sash1	T	C	10: 8,615,229 (GRCm39)	M644V	probably damaging	Het
Sf3b3	T	C	8: 111,550,075 (GRCm39)	T648A	probably benign	Het
Slco1a7	T	A	6: 141,684,739 (GRCm39)	T239S	probably benign	Het
Ssu72	T	C	4: 155,816,483 (GRCm39)	I155T	probably benign	Het
Tas2r102	A	G	6: 132,739,607 (GRCm39)	R172G	probably damaging	Het
Trav12-2	C	A	14: 53,853,859 (GRCm39)	N2K	probably damaging	Het
Tyrp1	C	T	4: 80,755,845 (GRCm39)	Q205*	probably null	Het
Ubr4	T	A	4: 139,180,052 (GRCm39)		probably null	Het
Ush2a	A	G	1: 187,995,588 (GRCm39)	S120G	probably benign	Het
Vmn2r100	T	C	17: 19,741,504 (GRCm39)		probably benign	Het
Zer1	G	T	2: 29,994,928 (GRCm39)	T489K	probably benign	Het
Zfp955b	G	T	17: 33,521,238 (GRCm39)	G236*	probably null	Het

Other mutations in Tmem214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Tmem214	APN	5	31,033,437 (GRCm39)	missense	probably benign	0.15
IGL02119:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02123:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02124:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02186:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02395:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02396:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02397:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02400:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02403:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02404:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02539:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02544:Tmem214	APN	5	31,030,090 (GRCm39)	missense	probably benign	0.01
IGL02934:Tmem214	APN	5	31,028,888 (GRCm39)	missense	probably benign	0.26
PIT4382001:Tmem214	UTSW	5	31,028,795 (GRCm39)	missense	possibly damaging	0.89
R0501:Tmem214	UTSW	5	31,029,876 (GRCm39)	missense	probably damaging	1.00
R0519:Tmem214	UTSW	5	31,027,012 (GRCm39)	start codon destroyed	probably null	0.98
R0675:Tmem214	UTSW	5	31,029,169 (GRCm39)	missense	possibly damaging	0.70
R1204:Tmem214	UTSW	5	31,033,134 (GRCm39)	missense	probably damaging	0.97
R1616:Tmem214	UTSW	5	31,028,907 (GRCm39)	nonsense	probably null
R2096:Tmem214	UTSW	5	31,033,714 (GRCm39)	missense	probably damaging	1.00
R2219:Tmem214	UTSW	5	31,030,975 (GRCm39)	missense	possibly damaging	0.72
R5635:Tmem214	UTSW	5	31,028,861 (GRCm39)	missense	probably damaging	1.00
R6003:Tmem214	UTSW	5	31,028,068 (GRCm39)	missense	possibly damaging	0.52
R6744:Tmem214	UTSW	5	31,031,372 (GRCm39)	missense	probably damaging	1.00
R7208:Tmem214	UTSW	5	31,028,065 (GRCm39)	missense	possibly damaging	0.52
R8155:Tmem214	UTSW	5	31,029,136 (GRCm39)	missense	possibly damaging	0.56
R8335:Tmem214	UTSW	5	31,029,466 (GRCm39)	missense	possibly damaging	0.85
R9562:Tmem214	UTSW	5	31,027,043 (GRCm39)	nonsense	probably null
R9565:Tmem214	UTSW	5	31,027,043 (GRCm39)	nonsense	probably null

Posted On

2015-04-16