Mutagenetix > Incidental Mutation

Incidental Mutation 'R8982:Tmem179'

683794

Institutional Source

Beutler Lab

Gene Symbol

Tmem179

Ensembl Gene

ENSMUSG00000054013

Gene Name

transmembrane protein 179

Synonyms

MMRRC Submission

068815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112466618-112477594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112468301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 193 (L193Q)

Ref Sequence

ENSEMBL: ENSMUSP00000068004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057465] [ENSMUST00000066791] [ENSMUST00000222836] [ENSMUST00000223266]

AlphaFold

Q8BHH9

Predicted Effect

probably benign
Transcript: ENSMUST00000057465

SMART Domains

Protein: ENSMUSP00000056220
Gene: ENSMUSG00000043122

Domain	Start	End	E-Value	Type
Pfam:DUF4658	32	165	4e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000066791
AA Change: L193Q

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

SMART Domains

Protein: ENSMUSP00000068004
Gene: ENSMUSG00000054013
AA Change: L193Q

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC
transmembrane domain	102	124	N/A	INTRINSIC
transmembrane domain	171	193	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000222836
AA Change: L60Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223266

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,677,485 (GRCm39)	N493S	probably benign	Het
Actg2	T	C	6: 83,497,697 (GRCm39)	D185G	probably benign	Het
Alpk3	A	G	7: 80,748,750 (GRCm39)	N1439S	probably damaging	Het
Arid1b	T	A	17: 5,293,316 (GRCm39)	S745T	probably damaging	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
C4b	A	G	17: 34,953,338 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,195,533 (GRCm39)	S79P	probably damaging	Het
Cep295nl	A	T	11: 118,224,671 (GRCm39)	W58R	probably damaging	Het
Ces2f	T	A	8: 105,679,667 (GRCm39)	C387S	probably benign	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Ckap5	T	C	2: 91,437,923 (GRCm39)	V1668A	possibly damaging	Het
Clock	A	G	5: 76,364,559 (GRCm39)	V852A	unknown	Het
Col22a1	A	G	15: 71,845,487 (GRCm39)		probably null	Het
Copb2	T	C	9: 98,456,164 (GRCm39)	S233P	probably damaging	Het
Dnah3	T	C	7: 119,536,294 (GRCm39)	Y684C	probably damaging	Het
Dnah7a	T	C	1: 53,570,301 (GRCm39)	E1835G	probably benign	Het
F830045P16Rik	T	A	2: 129,314,812 (GRCm39)	Q155L	probably damaging	Het
Fhad1	T	C	4: 141,729,895 (GRCm39)	D36G	probably damaging	Het
Hectd4	T	C	5: 121,466,305 (GRCm39)	V2412A	probably benign	Het
Hoxa13	T	A	6: 52,235,916 (GRCm39)	K210*	probably null	Het
Hoxc5	T	C	15: 102,923,740 (GRCm39)	Y179H	probably damaging	Het
Hrob	G	A	11: 102,146,110 (GRCm39)	A129T	probably benign	Het
Htr1d	A	T	4: 136,170,866 (GRCm39)	Q365L	possibly damaging	Het
Krt72	C	T	15: 101,690,059 (GRCm39)	V253M	possibly damaging	Het
Mecom	G	A	3: 30,017,255 (GRCm39)	T470I	probably damaging	Het
Nefh	G	A	11: 4,897,549 (GRCm39)	A129V	probably damaging	Het
Nlrp2	T	A	7: 5,327,978 (GRCm39)	I692F	probably damaging	Het
Nr6a1	T	A	2: 38,762,613 (GRCm39)	I61L	probably benign	Het
Or10aa1	T	G	1: 173,870,188 (GRCm39)	V224G	probably damaging	Het
Or10j2	G	A	1: 173,098,306 (GRCm39)	C188Y	probably damaging	Het
Or5d18	A	T	2: 87,864,613 (GRCm39)	I290K	probably damaging	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pkhd1l1	T	A	15: 44,387,069 (GRCm39)	L1314*	probably null	Het
Pogz	G	A	3: 94,786,879 (GRCm39)	V1156M	probably damaging	Het
Pramel23	T	G	4: 143,424,886 (GRCm39)	I186L	probably benign	Het
Prrc2b	T	A	2: 32,102,134 (GRCm39)	C736S	probably damaging	Het
Psg18	T	A	7: 18,083,300 (GRCm39)	H285L	probably benign	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Rfx6	G	A	10: 51,599,915 (GRCm39)	V554M	probably benign	Het
Rimbp3	A	G	16: 17,027,511 (GRCm39)	T312A	probably benign	Het
Slfn5	G	A	11: 82,850,966 (GRCm39)	W421*	probably null	Het
Srcin1	A	G	11: 97,426,624 (GRCm39)	I291T	probably damaging	Het
Sult3a2	T	C	10: 33,658,069 (GRCm39)	N15D	probably damaging	Het
Tmem200b	T	A	4: 131,649,668 (GRCm39)	L196Q	probably damaging	Het
Trim71	T	C	9: 114,342,804 (GRCm39)	T493A	possibly damaging	Het
Trp53bp2	T	A	1: 182,263,001 (GRCm39)		probably null	Het
Zbtb47	A	G	9: 121,592,334 (GRCm39)	E218G	probably benign	Het
Zbtb7c	G	A	18: 76,279,344 (GRCm39)	G601S	probably damaging	Het
Zdhhc3	A	G	9: 122,929,578 (GRCm39)	L19P	probably benign	Het
Zfp385b	G	T	2: 77,242,300 (GRCm39)	T473K	probably damaging	Het
Zfp804a	A	G	2: 82,066,172 (GRCm39)	K48E	probably damaging	Het

Other mutations in Tmem179

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1470:Tmem179	UTSW	12	112,468,288 (GRCm39)	missense	probably benign	0.05
R1470:Tmem179	UTSW	12	112,468,288 (GRCm39)	missense	probably benign	0.05
R1553:Tmem179	UTSW	12	112,471,094 (GRCm39)	missense	probably benign
R2405:Tmem179	UTSW	12	112,468,347 (GRCm39)	missense	probably damaging	1.00
R4125:Tmem179	UTSW	12	112,477,461 (GRCm39)	missense	possibly damaging	0.71
R4128:Tmem179	UTSW	12	112,477,461 (GRCm39)	missense	possibly damaging	0.71
R4480:Tmem179	UTSW	12	112,469,737 (GRCm39)	missense	probably benign
R4916:Tmem179	UTSW	12	112,468,268 (GRCm39)	missense	probably damaging	1.00
R6682:Tmem179	UTSW	12	112,469,714 (GRCm39)	missense	probably benign	0.25
R7636:Tmem179	UTSW	12	112,477,177 (GRCm39)	critical splice donor site	probably null
R9321:Tmem179	UTSW	12	112,477,390 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACATGCAGAGCTGTGTTGG -3'
(R):5'- CCAAATGTGGGTGTGCATG -3'

Sequencing Primer
(F):5'- AGAGCTGTGTTGGCCAGC -3'
(R):5'- TGCATGGGCTCTCAGGTC -3'

Posted On

2021-10-11