Mutagenetix > Incidental Mutation

Incidental Mutation 'R2408:Tmem222'

248089

Institutional Source

Beutler Lab

Gene Symbol

Tmem222

Ensembl Gene

ENSMUSG00000028857

Gene Name

transmembrane protein 222

Synonyms

D4Ertd196e, 5730406H10Rik

MMRRC Submission

040374-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R2408 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132993356-133005101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132998335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 73 (H73R)

Ref Sequence

ENSEMBL: ENSMUSP00000101527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105907] [ENSMUST00000139030]

AlphaFold

Q8BVA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105907
AA Change: H73R

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101527
Gene: ENSMUSG00000028857
AA Change: H73R

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Pfam:DUF778	61	118	4.4e-28	PFAM
Pfam:DUF778	112	178	3.2e-22	PFAM
transmembrane domain	188	207	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132713

Predicted Effect

unknown
Transcript: ENSMUST00000134781
AA Change: H37R

SMART Domains

Protein: ENSMUSP00000120532
Gene: ENSMUSG00000028857
AA Change: H37R

Domain	Start	End	E-Value	Type
Pfam:DUF778	26	66	2.7e-16	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000137622
AA Change: H52R

SMART Domains

Protein: ENSMUSP00000117527
Gene: ENSMUSG00000028857
AA Change: H52R

Domain	Start	End	E-Value	Type
Pfam:DUF778	41	96	2.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139030

SMART Domains

Protein: ENSMUSP00000121858
Gene: ENSMUSG00000028857

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153059

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

97% (33/34)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	G	8: 95,730,121 (GRCm39)	L103V	probably null	Het
BC051076	C	T	5: 88,111,684 (GRCm39)		noncoding transcript	Het
Ccdc191	A	T	16: 43,751,561 (GRCm39)	Q239L	probably benign	Het
Dennd4b	G	T	3: 90,178,882 (GRCm39)	G538*	probably null	Het
Dipk1a	T	C	5: 108,062,291 (GRCm39)	D78G	possibly damaging	Het
Dusp7	C	T	9: 106,246,361 (GRCm39)	A122V	probably benign	Het
Exd2	T	G	12: 80,531,015 (GRCm39)		probably benign	Het
Gm10782	C	A	13: 56,510,944 (GRCm39)		noncoding transcript	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hhipl1	T	A	12: 108,284,806 (GRCm39)	D386E	probably benign	Het
Hnf1a	C	T	5: 115,098,070 (GRCm39)		probably null	Het
Ifi204	A	G	1: 173,583,198 (GRCm39)	F340S	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Med26	T	C	8: 73,249,476 (GRCm39)	D541G	probably benign	Het
Mgam	T	A	6: 40,663,456 (GRCm39)	L1218Q	probably damaging	Het
Msh5	T	C	17: 35,264,095 (GRCm39)	D136G	probably damaging	Het
Nbl1	C	T	4: 138,810,843 (GRCm39)	C117Y	probably damaging	Het
Niban2	A	G	2: 32,813,482 (GRCm39)	Y565C	probably damaging	Het
Noct	T	C	3: 51,132,710 (GRCm39)		probably null	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Prmt2	A	T	10: 76,044,301 (GRCm39)	M417K	probably damaging	Het
Rptor	A	G	11: 119,748,277 (GRCm39)	E3G	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc13a5	A	G	11: 72,152,902 (GRCm39)	S60P	probably damaging	Het
Sycp1	T	C	3: 102,832,575 (GRCm39)	Y197C	probably damaging	Het
Trmt1l	G	A	1: 151,315,267 (GRCm39)	G151D	possibly damaging	Het
Ttc16	A	G	2: 32,658,020 (GRCm39)	F409L	probably benign	Het
Ubap2l	T	C	3: 89,916,439 (GRCm39)	Q925R	probably null	Het
Ucn3	T	G	13: 3,991,413 (GRCm39)	I80L	probably benign	Het
Vwa3a	T	C	7: 120,372,517 (GRCm39)	S302P	probably benign	Het
Zfp804b	A	T	5: 7,229,410 (GRCm39)		probably benign	Het
Zmynd19	A	G	2: 24,848,937 (GRCm39)	E144G	possibly damaging	Het

Other mutations in Tmem222

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
kaufman	UTSW	4	132,997,119 (GRCm39)	missense	possibly damaging	0.94
R0496:Tmem222	UTSW	4	133,004,902 (GRCm39)	missense	possibly damaging	0.66
R4726:Tmem222	UTSW	4	133,004,975 (GRCm39)	missense	probably benign	0.27
R5330:Tmem222	UTSW	4	133,004,935 (GRCm39)	missense	possibly damaging	0.83
R6239:Tmem222	UTSW	4	132,995,606 (GRCm39)	missense	probably damaging	1.00
R6803:Tmem222	UTSW	4	132,994,154 (GRCm39)	missense	probably benign	0.04
R6884:Tmem222	UTSW	4	132,995,514 (GRCm39)	missense	probably damaging	1.00
R9026:Tmem222	UTSW	4	132,997,119 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CACAGAGGCTGAACCAGTTAC -3'
(R):5'- TCCGTCAGAGAGCTGGTTTC -3'

Sequencing Primer
(F):5'- GGCTGAACCAGTTACTTAAGATGCC -3'
(R):5'- TCTTCCCAGTAGAGATCCGG -3'

Posted On

2014-11-11