Mutagenetix > Incidental Mutation

Incidental Mutation 'R5217:Tmem216'

403575

Institutional Source

Beutler Lab

Gene Symbol

Tmem216

Ensembl Gene

ENSMUSG00000024667

Gene Name

transmembrane protein 216

Synonyms

4921533J23Rik, A930021F15Rik, 1110017C22Rik, 2810441K11Rik

MMRRC Submission

042790-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5217 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10516690-10533663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10529155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 131 (T131M)

Ref Sequence

ENSEMBL: ENSMUSP00000115319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025569] [ENSMUST00000038379] [ENSMUST00000059582] [ENSMUST00000123788] [ENSMUST00000145210] [ENSMUST00000154383]

AlphaFold

Q9CQC4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025569
AA Change: T77M

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025569
Gene: ENSMUSG00000024667
AA Change: T77M

Domain	Start	End	E-Value	Type
Pfam:Transmemb_17	1	69	2.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038379

SMART Domains

Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820

Domain	Start	End	E-Value	Type
low complexity region	51	63	N/A	INTRINSIC
RRM	83	158	7.31e-8	SMART
low complexity region	188	202	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	265	291	N/A	INTRINSIC
low complexity region	346	362	N/A	INTRINSIC
low complexity region	405	439	N/A	INTRINSIC
low complexity region	454	471	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059582
AA Change: T77M

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059878
Gene: ENSMUSG00000024667
AA Change: T77M

Domain	Start	End	E-Value	Type
Pfam:Transmemb_17	1	69	2.8e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123788
AA Change: T131M

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119596
Gene: ENSMUSG00000024667
AA Change: T131M

Domain	Start	End	E-Value	Type
Pfam:Transmemb_17	15	123	9.9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131205

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145210
AA Change: T77M

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123397
Gene: ENSMUSG00000024667
AA Change: T77M

Domain	Start	End	E-Value	Type
Pfam:Transmemb_17	1	69	2.8e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154383
AA Change: T131M

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115319
Gene: ENSMUSG00000024667
AA Change: T131M

Domain	Start	End	E-Value	Type
Pfam:Transmemb_17	15	122	2.2e-33	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein which is involved in regulation of signaling and trafficking of associated proteins. In humans, mutations in this gene are associated with ciliopathies including Joubert, Meckel and related syndromes. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Abhd11	T	A	5: 135,040,398 (GRCm39)	W144R	probably damaging	Het
Abhd2	A	G	7: 78,973,378 (GRCm39)	E119G	probably benign	Het
Acbd3	A	G	1: 180,553,938 (GRCm39)	Y91C	probably benign	Het
Aox4	C	A	1: 58,285,400 (GRCm39)	S628*	probably null	Het
Bahcc1	T	A	11: 120,165,285 (GRCm39)	Y905*	probably null	Het
Baiap2l2	T	G	15: 79,154,687 (GRCm39)	S211R	probably benign	Het
Cab39l	T	A	14: 59,764,258 (GRCm39)	Y206*	probably null	Het
Cacna1i	A	T	15: 80,275,041 (GRCm39)	T1830S	possibly damaging	Het
Catsperg1	A	T	7: 28,889,723 (GRCm39)	L793*	probably null	Het
Cdh10	G	T	15: 18,966,108 (GRCm39)	V198F	probably damaging	Het
Cenpk	A	T	13: 104,385,917 (GRCm39)	I271F	probably damaging	Het
Chchd4	A	T	6: 91,442,260 (GRCm39)	C53S	probably damaging	Het
Cluh	T	G	11: 74,550,531 (GRCm39)	C252W	probably damaging	Het
Cmklr1	G	T	5: 113,752,710 (GRCm39)	A97E	probably damaging	Het
Coil	C	A	11: 88,871,987 (GRCm39)	A116D	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,196 (GRCm39)	H58R	probably benign	Het
F830045P16Rik	C	A	2: 129,305,493 (GRCm39)	V294F	probably damaging	Het
Fgd6	T	A	10: 93,969,939 (GRCm39)	M1196K	possibly damaging	Het
Gabra5	G	A	7: 57,140,604 (GRCm39)	S31L	probably benign	Het
Gm7135	A	T	1: 97,362,790 (GRCm39)		noncoding transcript	Het
Gon4l	C	A	3: 88,794,882 (GRCm39)	T695K	probably damaging	Het
Hectd4	A	G	5: 121,491,614 (GRCm39)	H3684R	possibly damaging	Het
Ica1l	T	A	1: 60,054,917 (GRCm39)	M105L	probably benign	Het
Ift70a1	A	G	2: 75,811,147 (GRCm39)	L312P	probably damaging	Het
Igkv8-24	A	T	6: 70,194,386 (GRCm39)	V7D	probably damaging	Het
Klf10	G	A	15: 38,296,331 (GRCm39)	R420W	probably damaging	Het
Klrc2	C	A	6: 129,633,843 (GRCm39)	W177C	probably damaging	Het
Krit1	T	A	5: 3,856,451 (GRCm39)	C15*	probably null	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrrc37a	C	T	11: 103,347,780 (GRCm39)	V2972I	unknown	Het
Mapkapk5	T	C	5: 121,672,492 (GRCm39)	D13G	probably damaging	Het
Mcph1	T	A	8: 18,838,489 (GRCm39)	L804I	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrto4	A	G	4: 139,075,770 (GRCm39)	Y119H	probably benign	Het
Nbeal2	G	T	9: 110,461,158 (GRCm39)	A1635E	possibly damaging	Het
Ndc1	T	C	4: 107,246,773 (GRCm39)	S399P	probably benign	Het
Ndufv2	A	G	17: 66,394,424 (GRCm39)	I147T	probably damaging	Het
Neb	C	A	2: 52,052,142 (GRCm39)	E382*	probably null	Het
Nhsl3	C	T	4: 129,116,478 (GRCm39)	E729K	probably damaging	Het
Nme8	T	A	13: 19,880,861 (GRCm39)	I32F	probably damaging	Het
Obox5	T	A	7: 15,491,793 (GRCm39)		probably null	Het
Or8g23	A	G	9: 38,971,065 (GRCm39)	V299A	probably benign	Het
Pcdhb19	A	T	18: 37,630,939 (GRCm39)	M245L	probably benign	Het
Pex5l	A	T	3: 33,061,477 (GRCm39)		probably null	Het
Phrf1	T	G	7: 140,840,616 (GRCm39)	D1270E	probably damaging	Het
Pik3r5	A	G	11: 68,382,790 (GRCm39)	K277E	possibly damaging	Het
Ppan	T	C	9: 20,802,221 (GRCm39)	V204A	possibly damaging	Het
Ppp1r9a	A	T	6: 5,115,367 (GRCm39)	N830I	probably damaging	Het
Pxn	C	G	5: 115,682,974 (GRCm39)	A92G	probably benign	Het
Qsox1	A	G	1: 155,666,742 (GRCm39)	V249A	probably benign	Het
Rgl3	T	A	9: 21,898,944 (GRCm39)	*88C	probably null	Het
Rps6kc1	A	T	1: 190,515,802 (GRCm39)	W975R	probably damaging	Het
Sash1	G	T	10: 8,656,368 (GRCm39)	A208D	possibly damaging	Het
Simc1	A	T	13: 54,687,709 (GRCm39)		probably benign	Het
Sox7	T	C	14: 64,185,449 (GRCm39)	Y162H	probably damaging	Het
Srp72	T	A	5: 77,128,375 (GRCm39)	L171H	probably damaging	Het
Stab1	T	A	14: 30,881,476 (GRCm39)	Y577F	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tagln	T	C	9: 45,842,177 (GRCm39)	T139A	probably benign	Het
Thbs3	T	C	3: 89,130,471 (GRCm39)		probably null	Het
Tmprss11c	A	G	5: 86,404,249 (GRCm39)	V142A	probably benign	Het
Trarg1	C	G	11: 76,585,102 (GRCm39)	A164G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubtf	T	C	11: 102,199,128 (GRCm39)	M511V	probably null	Het
Ugt2b36	A	T	5: 87,214,114 (GRCm39)	V510E	probably damaging	Het
Vars2	G	C	17: 35,969,041 (GRCm39)	P887A	probably damaging	Het
Vmn2r80	A	G	10: 79,004,980 (GRCm39)	M206V	possibly damaging	Het
Zbtb5	A	G	4: 44,993,990 (GRCm39)	F465L	probably benign	Het
Zfp119a	G	A	17: 56,172,425 (GRCm39)	Q473*	probably null	Het
Zfp607a	T	G	7: 27,577,269 (GRCm39)	I113R	probably damaging	Het
Zfp998	A	T	13: 66,581,787 (GRCm39)	L28H	probably damaging	Het
Zmym6	C	A	4: 126,999,167 (GRCm39)	N450K	possibly damaging	Het

Other mutations in Tmem216

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0131:Tmem216	UTSW	19	10,531,970 (GRCm39)	missense	probably damaging	1.00
R2280:Tmem216	UTSW	19	10,529,237 (GRCm39)	missense	probably damaging	1.00
R2281:Tmem216	UTSW	19	10,529,237 (GRCm39)	missense	probably damaging	1.00
R7575:Tmem216	UTSW	19	10,529,266 (GRCm39)	missense	probably benign
R8311:Tmem216	UTSW	19	10,529,191 (GRCm39)	missense	probably benign	0.13
R8343:Tmem216	UTSW	19	10,529,336 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTACAGATGCAGAACACATATACAG -3'
(R):5'- TACCATCTTGAGGCTGACTGTGG -3'

Sequencing Primer
(F):5'- CAGAGAACTTTTCTACCTACTGGAGG -3'
(R):5'- ATTACCTGCTGCTGCAGA -3'

Posted On

2016-07-22