Mutagenetix > Incidental Mutation

Incidental Mutation 'R6515:Tmem184a'

520587

Institutional Source

Beutler Lab

Gene Symbol

Tmem184a

Ensembl Gene

ENSMUSG00000036687

Gene Name

transmembrane protein 184a

Synonyms

Sdmg1

MMRRC Submission

044642-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6515 (G1)

Quality Score

177.009

Status

Validated

Chromosome

Chromosomal Location

139790707-139805725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139794193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 177 (F177L)

Ref Sequence

ENSEMBL: ENSMUSP00000138120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044002] [ENSMUST00000110832] [ENSMUST00000146780] [ENSMUST00000147328] [ENSMUST00000182839]

AlphaFold

Q3UFJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000044002
AA Change: F129L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035399
Gene: ENSMUSG00000036687
AA Change: F129L

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	46	54	N/A	INTRINSIC
Pfam:Solute_trans_a	82	356	2.2e-93	PFAM
low complexity region	408	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110832
AA Change: F105L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106456
Gene: ENSMUSG00000036687
AA Change: F105L

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
Pfam:Solute_trans_a	55	332	6.7e-101	PFAM
low complexity region	384	411	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132677

Predicted Effect

probably benign
Transcript: ENSMUST00000146780

SMART Domains

Protein: ENSMUSP00000117714
Gene: ENSMUSG00000036687

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147328

SMART Domains

Protein: ENSMUSP00000119412
Gene: ENSMUSG00000036687

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182839
AA Change: F177L

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138120
Gene: ENSMUSG00000098140
AA Change: F177L

Domain	Start	End	E-Value	Type
Pfam:DUF2372	34	82	2e-14	PFAM
low complexity region	94	102	N/A	INTRINSIC
Pfam:Solute_trans_a	127	226	3.5e-36	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1s3	T	C	1: 79,592,044 (GRCm39)	D102G	probably damaging	Het
Apcdd1	T	A	18: 63,084,910 (GRCm39)	M369K	probably damaging	Het
Atp4a	A	G	7: 30,411,903 (GRCm39)	K46R	possibly damaging	Het
Bcl9l	A	G	9: 44,419,171 (GRCm39)		probably null	Het
Cabyr	A	G	18: 12,887,340 (GRCm39)	S324G	possibly damaging	Het
Casp8ap2	A	G	4: 32,646,423 (GRCm39)	D1832G	possibly damaging	Het
Cdk4	C	T	10: 126,902,052 (GRCm39)	P256S	probably null	Het
Cnot6l	C	A	5: 96,309,537 (GRCm39)		probably benign	Het
Cox17	C	A	16: 38,167,557 (GRCm39)	A32E	probably damaging	Het
Cyp27b1	G	T	10: 126,884,119 (GRCm39)		probably benign	Het
Enpp2	T	A	15: 54,723,489 (GRCm39)	N628I	possibly damaging	Het
Ggcx	T	C	6: 72,402,815 (GRCm39)	C258R	probably benign	Het
Hbb-bh1	T	C	7: 103,491,974 (GRCm39)	D80G	probably damaging	Het
Hoxb5	A	T	11: 96,195,908 (GRCm39)	D252V	probably damaging	Het
Hspa4l	A	G	3: 40,736,014 (GRCm39)	D545G	possibly damaging	Het
Hspa5	T	A	2: 34,662,416 (GRCm39)	V28E	probably benign	Het
Ifit1bl1	T	C	19: 34,571,899 (GRCm39)	Y186C	probably damaging	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Kif19b	T	C	5: 140,480,779 (GRCm39)	S970P	possibly damaging	Het
Klra17	A	T	6: 129,808,462 (GRCm39)	I257N	probably damaging	Het
Megf6	C	T	4: 154,343,376 (GRCm39)	H662Y	possibly damaging	Het
Mfsd6	T	C	1: 52,700,120 (GRCm39)	K676R	probably damaging	Het
Nutm1	A	C	2: 112,086,665 (GRCm39)	L22R	probably benign	Het
Oas1f	T	C	5: 120,986,497 (GRCm39)	V150A	probably damaging	Het
Or10ak13	T	C	4: 118,639,467 (GRCm39)	Y105C	probably benign	Het
Or4f62	T	C	2: 111,986,710 (GRCm39)	L138P	probably benign	Het
Pik3ap1	A	G	19: 41,364,585 (GRCm39)	Y45H	probably benign	Het
Pnlip	T	C	19: 58,661,547 (GRCm39)	S79P	probably damaging	Het
Ppfia3	T	C	7: 44,989,657 (GRCm39)	D1185G	possibly damaging	Het
Pphln1-ps1	G	A	16: 13,494,820 (GRCm39)		probably benign	Het
Rbm34	A	T	8: 127,688,682 (GRCm39)	S217T	possibly damaging	Het
Rbm44	T	C	1: 91,092,860 (GRCm39)	I820T	probably damaging	Het
Rnf151	A	T	17: 24,935,391 (GRCm39)	L180Q	probably benign	Het
Sec24d	G	A	3: 123,136,719 (GRCm39)	R484Q	possibly damaging	Het
Spop	C	A	11: 95,376,761 (GRCm39)	D271E	possibly damaging	Het
Svep1	C	T	4: 58,088,280 (GRCm39)	G1723D	probably damaging	Het
Tenm3	G	C	8: 48,870,257 (GRCm39)	Q179E	probably benign	Het
Thap12	A	G	7: 98,356,302 (GRCm39)	E63G	probably damaging	Het
Thsd7a	T	A	6: 12,501,085 (GRCm39)	T441S	possibly damaging	Het
Tle6	G	A	10: 81,427,810 (GRCm39)	H482Y	probably damaging	Het
Uggt2	A	T	14: 119,315,131 (GRCm39)	S313T	possibly damaging	Het
Unc13a	A	G	8: 72,100,584 (GRCm39)	I1068T	probably benign	Het
Xirp1	T	C	9: 119,845,983 (GRCm39)	R967G	probably benign	Het

Other mutations in Tmem184a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01800:Tmem184a	APN	5	139,798,899 (GRCm39)	missense	possibly damaging	0.90
IGL02111:Tmem184a	APN	5	139,798,856 (GRCm39)	missense	possibly damaging	0.92
IGL02483:Tmem184a	APN	5	139,798,832 (GRCm39)	missense	probably benign	0.01
IGL03352:Tmem184a	APN	5	139,798,755 (GRCm39)	missense	probably damaging	0.98
R1488:Tmem184a	UTSW	5	139,793,395 (GRCm39)	missense	probably benign	0.14
R1950:Tmem184a	UTSW	5	139,793,381 (GRCm39)	missense	probably damaging	1.00
R3610:Tmem184a	UTSW	5	139,793,710 (GRCm39)	critical splice donor site	probably null
R4690:Tmem184a	UTSW	5	139,791,377 (GRCm39)	missense	probably benign	0.01
R4977:Tmem184a	UTSW	5	139,793,757 (GRCm39)	missense	probably null	0.57
R6247:Tmem184a	UTSW	5	139,798,827 (GRCm39)	missense	probably benign	0.02
R6497:Tmem184a	UTSW	5	139,798,755 (GRCm39)	missense	probably damaging	0.99
R7348:Tmem184a	UTSW	5	139,799,809 (GRCm39)	missense	probably null	0.12
R7742:Tmem184a	UTSW	5	139,792,744 (GRCm39)	missense	probably benign	0.16
R8949:Tmem184a	UTSW	5	139,791,311 (GRCm39)	missense	probably benign	0.12
R9522:Tmem184a	UTSW	5	139,791,485 (GRCm39)	missense	probably benign	0.03
R9691:Tmem184a	UTSW	5	139,798,790 (GRCm39)	missense	possibly damaging	0.83
R9776:Tmem184a	UTSW	5	139,791,984 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- ATCTTGCAGGGGAAGTGTGC -3'
(R):5'- TCGGTAGAACATTAGGCAGTG -3'

Sequencing Primer
(F):5'- CAGGGGAAGTGTGCGCATG -3'
(R):5'- AAAGAGCATCCTGGCGC -3'

Posted On

2018-06-06