Mutagenetix > Incidental Mutation

Incidental Mutation 'R8250:Tmem126b'

640284

Institutional Source

Beutler Lab

Gene Symbol

Tmem126b

Ensembl Gene

ENSMUSG00000030614

Gene Name

transmembrane protein 126B

Synonyms

1110001A23Rik

MMRRC Submission

067676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90118041-90125203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90118317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 188 (L188F)

Ref Sequence

ENSEMBL: ENSMUSP00000032843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032843]

AlphaFold

Q9D1R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000032843
AA Change: L188F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032843
Gene: ENSMUSG00000030614
AA Change: L188F

Domain	Start	End	E-Value	Type
Pfam:DUF1370	51	228	2.9e-72	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,260,846 (GRCm39)	E1027V	probably damaging	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Bltp1	T	C	3: 36,971,811 (GRCm39)	S515P	probably damaging	Het
Ccdc27	A	T	4: 154,126,245 (GRCm39)	D81E	unknown	Het
Csrnp3	A	G	2: 65,852,562 (GRCm39)	E330G	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Ftcd	T	G	10: 76,417,461 (GRCm39)	I300R	probably damaging	Het
Fxr1	T	A	3: 34,101,178 (GRCm39)	Y161*	probably null	Het
Gabrg2	C	T	11: 41,858,379 (GRCm39)	V250I	probably benign	Het
Gmcl1	T	C	6: 86,698,384 (GRCm39)	D171G	possibly damaging	Het
Grk2	A	G	19: 4,339,962 (GRCm39)	F375S	probably damaging	Het
Kat2b	T	A	17: 53,970,564 (GRCm39)	I650N	probably damaging	Het
Lhfpl6	T	C	3: 52,950,759 (GRCm39)	I11T	probably benign	Het
Mbtd1	A	G	11: 93,801,176 (GRCm39)	Y141C	probably damaging	Het
Mon1b	A	T	8: 114,366,351 (GRCm39)	E449V	probably damaging	Het
Mrpl47	T	C	3: 32,785,382 (GRCm39)	N112S	probably damaging	Het
Myo9a	T	A	9: 59,767,392 (GRCm39)	H865Q	probably damaging	Het
Notch3	T	C	17: 32,351,310 (GRCm39)	N1895S	probably damaging	Het
Nuggc	A	G	14: 65,879,318 (GRCm39)	I693V	probably benign	Het
Oip5	A	G	2: 119,446,110 (GRCm39)	S133P	probably benign	Het
Opcml	A	G	9: 28,586,566 (GRCm39)	I95V	probably damaging	Het
Or10v1	A	T	19: 11,873,741 (GRCm39)	M119L	probably damaging	Het
Or52l1	T	C	7: 104,830,518 (GRCm39)	M16V		Het
Or8k20	T	C	2: 86,106,498 (GRCm39)	E111G	probably damaging	Het
P2rx3	A	C	2: 84,852,735 (GRCm39)	V221G	probably damaging	Het
Prr27	A	G	5: 87,990,556 (GRCm39)	N56S	possibly damaging	Het
Psmd11	T	C	11: 80,336,752 (GRCm39)	S135P	possibly damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Sall3	T	C	18: 81,016,743 (GRCm39)	D395G	probably benign	Het
Scube2	T	C	7: 109,463,377 (GRCm39)	N62S	probably benign	Het
Sema6a	A	T	18: 47,423,182 (GRCm39)	S275T	probably damaging	Het
Sirpb1a	A	T	3: 15,444,104 (GRCm39)	L382Q	possibly damaging	Het
Snrpn	T	A	7: 59,636,633 (GRCm39)		probably null	Het
Sox5	A	T	6: 144,100,777 (GRCm39)	S71T	possibly damaging	Het
Synpo2l	G	T	14: 20,712,344 (GRCm39)	T321K	probably benign	Het
Tex15	G	A	8: 34,055,233 (GRCm39)	E285K	probably null	Het
Ttll2	T	C	17: 7,618,767 (GRCm39)	T387A	probably benign	Het
Ttn	A	G	2: 76,667,155 (GRCm39)	Y11484H	unknown	Het
Vmn2r76	T	A	7: 85,875,231 (GRCm39)	Y582F	possibly damaging	Het
Zfp786	A	T	6: 47,797,729 (GRCm39)	L403Q	possibly damaging	Het

Other mutations in Tmem126b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Tmem126b	APN	7	90,118,269 (GRCm39)	missense	probably damaging	0.96
R1661:Tmem126b	UTSW	7	90,125,179 (GRCm39)	missense	probably damaging	1.00
R1665:Tmem126b	UTSW	7	90,125,179 (GRCm39)	missense	probably damaging	1.00
R1911:Tmem126b	UTSW	7	90,118,367 (GRCm39)	missense	possibly damaging	0.89
R2894:Tmem126b	UTSW	7	90,120,121 (GRCm39)	missense	probably damaging	0.99
R4519:Tmem126b	UTSW	7	90,118,316 (GRCm39)	missense	probably damaging	1.00
R5098:Tmem126b	UTSW	7	90,118,850 (GRCm39)	missense	probably damaging	1.00
R5425:Tmem126b	UTSW	7	90,120,155 (GRCm39)	missense	probably benign	0.06
R5750:Tmem126b	UTSW	7	90,118,865 (GRCm39)	missense	probably damaging	0.99
R7493:Tmem126b	UTSW	7	90,121,854 (GRCm39)	missense	probably benign	0.03
R8038:Tmem126b	UTSW	7	90,118,830 (GRCm39)	missense	probably benign	0.41
R9580:Tmem126b	UTSW	7	90,118,231 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGAACCGGCTTCCATGGAG -3'
(R):5'- GGGGTGGTACTGATAAACTCTTC -3'

Sequencing Primer
(F):5'- GTCCATGGAGTCTTTGGTTAATCATC -3'
(R):5'- AACTCTTCTTTTTCTTAAGCTACAGG -3'

Posted On

2020-07-28