Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Tmem107'

345455

Institutional Source

Beutler Lab

Gene Symbol

Tmem107

Ensembl Gene

ENSMUSG00000020895

Gene Name

transmembrane protein 107

Synonyms

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69070806-69073293 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69071448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 77 (M77K)

Ref Sequence

ENSEMBL: ENSMUSP00000091624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075980] [ENSMUST00000094081]

AlphaFold

Q9CPV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000075980
AA Change: M77K

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

SMART Domains

Protein: ENSMUSP00000075363
Gene: ENSMUSG00000020895
AA Change: M77K

Domain	Start	End	E-Value	Type
Pfam:TMEM107	7	130	2e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082965

Predicted Effect

probably damaging
Transcript: ENSMUST00000094081
AA Change: M77K

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

SMART Domains

Protein: ENSMUSP00000091624
Gene: ENSMUSG00000020895
AA Change: M77K

Domain	Start	End	E-Value	Type
Pfam:TMEM107	7	124	2.4e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158162

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for an ENU induced allele exhibit preaxial polydactyly, exencephaly, microphthalmia, cleft palate, craniofacial defects, short sternum, split sternum and absent floor plate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403 (GRCm38)	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668 (GRCm38)	R677G	probably benign	Het
Apc	T	A	18: 34,317,987 (GRCm38)	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069 (GRCm38)	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802 (GRCm38)	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329 (GRCm38)	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900 (GRCm38)	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790 (GRCm38)	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810 (GRCm38)	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460 (GRCm38)	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819 (GRCm38)	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559 (GRCm38)		probably null	Het
Coq6	T	C	12: 84,362,139 (GRCm38)	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128 (GRCm38)	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183 (GRCm38)	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047 (GRCm38)	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536 (GRCm38)	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548 (GRCm38)	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431 (GRCm38)	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859 (GRCm38)	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574 (GRCm38)	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837 (GRCm38)	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493 (GRCm38)	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945 (GRCm38)	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490 (GRCm38)	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713 (GRCm38)	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453 (GRCm38)	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113 (GRCm38)	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459 (GRCm38)	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008 (GRCm38)	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005 (GRCm38)		probably benign	Het
Lin7a	T	C	10: 107,412,166 (GRCm38)	S111P	unknown	Het
Med27	A	G	2: 29,524,458 (GRCm38)	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578 (GRCm38)	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151 (GRCm38)		probably null	Het
Myo1c	T	C	11: 75,668,193 (GRCm38)	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784 (GRCm38)	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068 (GRCm38)	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252 (GRCm38)	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718 (GRCm38)	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073 (GRCm38)	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111 (GRCm38)	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557 (GRCm38)	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390 (GRCm38)	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069 (GRCm38)	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764 (GRCm38)	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382 (GRCm38)	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276 (GRCm38)	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329 (GRCm38)	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789 (GRCm38)		probably null	Het
Rilp	T	C	11: 75,512,760 (GRCm38)	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910 (GRCm38)	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004 (GRCm38)	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926 (GRCm38)	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231 (GRCm38)	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378 (GRCm38)	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460 (GRCm38)	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753 (GRCm38)	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924 (GRCm38)	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634 (GRCm38)	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332 (GRCm38)	Y375C	probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747 (GRCm38)	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521 (GRCm38)	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117 (GRCm38)	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647 (GRCm38)	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456 (GRCm38)	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007 (GRCm38)		probably null	Het
Zp3	A	T	5: 135,984,235 (GRCm38)	K168*	probably null	Het

Other mutations in Tmem107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02567:Tmem107	APN	11	69,071,019 (GRCm38)	missense	possibly damaging	0.79
PIT4696001:Tmem107	UTSW	11	69,072,573 (GRCm38)	missense	probably benign
R0133:Tmem107	UTSW	11	69,072,413 (GRCm38)	splice site	probably benign
R1537:Tmem107	UTSW	11	69,072,458 (GRCm38)	missense	probably damaging	0.99
R2210:Tmem107	UTSW	11	69,071,270 (GRCm38)	missense	possibly damaging	0.89
R2919:Tmem107	UTSW	11	69,071,421 (GRCm38)	missense	probably damaging	1.00
R2920:Tmem107	UTSW	11	69,071,421 (GRCm38)	missense	probably damaging	1.00
R3974:Tmem107	UTSW	11	69,071,475 (GRCm38)	critical splice donor site	probably null
R4326:Tmem107	UTSW	11	69,071,475 (GRCm38)	critical splice donor site	probably null
R4327:Tmem107	UTSW	11	69,071,475 (GRCm38)	critical splice donor site	probably null
R4328:Tmem107	UTSW	11	69,071,475 (GRCm38)	critical splice donor site	probably null
R4962:Tmem107	UTSW	11	69,071,261 (GRCm38)	missense	possibly damaging	0.89
R6218:Tmem107	UTSW	11	69,071,415 (GRCm38)	missense	probably damaging	1.00
R6755:Tmem107	UTSW	11	69,071,011 (GRCm38)	missense	probably damaging	0.98
R7575:Tmem107	UTSW	11	69,072,807 (GRCm38)	missense	probably benign	0.27
R8271:Tmem107	UTSW	11	69,071,455 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTCTCAAATTCACCCCGGAG -3'
(R):5'- GCTCACATCCGGATTTAACGAATG -3'

Sequencing Primer
(F):5'- GGAATACGAAAAGCAGGACAACC -3'
(R):5'- CCGGATTTAACGAATGTTTGAAGTC -3'

Posted On

2015-09-25