Mutagenetix > Incidental Mutation

Incidental Mutation 'R9794:Tmem63b'

734853

Institutional Source

Beutler Lab

Gene Symbol

Tmem63b

Ensembl Gene

ENSMUSG00000036026

Gene Name

transmembrane protein 63b

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9794 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45971102-45997212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45977252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 417 (N417S)

Ref Sequence

ENSEMBL: ENSMUSP00000109151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113523] [ENSMUST00000145873] [ENSMUST00000156254]

AlphaFold

Q3TWI9

Predicted Effect

probably benign
Transcript: ENSMUST00000113523
AA Change: N417S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: N417S

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
low complexity region	82	92	N/A	INTRINSIC
Pfam:RSN1_TM	101	226	2.5e-23	PFAM
Pfam:PHM7_cyt	274	344	9.1e-10	PFAM
Pfam:RSN1_7TM	362	706	5.3e-96	PFAM
transmembrane domain	711	733	N/A	INTRINSIC
low complexity region	778	805	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145873

SMART Domains

Protein: ENSMUSP00000121681
Gene: ENSMUSG00000036026

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
Pfam:RSN1_TM	87	213	1.1e-24	PFAM
Blast:RRM	228	308	3e-23	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000156254

SMART Domains

Protein: ENSMUSP00000118838
Gene: ENSMUSG00000036026

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
low complexity region	82	92	N/A	INTRINSIC
Pfam:RSN1_TM	102	226	3.3e-24	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,395,038 (GRCm39)	I39L	possibly damaging	Het
Acacb	T	C	5: 114,387,578 (GRCm39)	V2415A	probably benign	Het
Adgrg6	C	A	10: 14,314,196 (GRCm39)	G669C	probably damaging	Het
Ahcyl	A	G	16: 45,974,342 (GRCm39)	V345A	probably benign	Het
Arhgdib	A	G	6: 136,906,608 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,501,634 (GRCm39)	V643I	probably benign	Het
Aspm	T	A	1: 139,406,480 (GRCm39)	I1789N	probably damaging	Het
Atm	C	T	9: 53,429,867 (GRCm39)	V390I	probably benign	Het
AW554918	A	G	18: 25,337,031 (GRCm39)	E148G	probably damaging	Het
Bmal2	T	A	6: 146,734,033 (GRCm39)	D543E	probably benign	Het
Camk2a	T	C	18: 61,097,031 (GRCm39)	V327A	probably benign	Het
Celsr3	T	C	9: 108,728,502 (GRCm39)	V3302A	probably benign	Het
Ces2a	G	A	8: 105,467,896 (GRCm39)	V509M	probably benign	Het
Cpa5	T	C	6: 30,625,920 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,509,522 (GRCm39)	*159R	probably null	Het
Cyp2b23	A	T	7: 26,381,121 (GRCm39)	Y79N	probably benign	Het
Dapk1	A	G	13: 60,909,082 (GRCm39)	T1232A	probably damaging	Het
Dsg3	A	T	18: 20,673,154 (GRCm39)	T942S	probably benign	Het
Efnb3	G	A	11: 69,448,232 (GRCm39)	P70L	probably damaging	Het
Eln	G	T	5: 134,751,352 (GRCm39)	Y280*	probably null	Het
Epha8	G	T	4: 136,666,035 (GRCm39)	H374N	probably benign	Het
Erbin	A	T	13: 103,971,359 (GRCm39)	D752E	probably benign	Het
Fam149a	A	G	8: 45,834,449 (GRCm39)	S117P	possibly damaging	Het
Fchsd2	G	A	7: 100,893,410 (GRCm39)	C304Y	probably benign	Het
Galnt6	C	A	15: 100,595,859 (GRCm39)	V390L	probably damaging	Het
Grk3	T	C	5: 113,121,448 (GRCm39)		probably null	Het
Il17rc	A	T	6: 113,453,726 (GRCm39)	T237S	probably benign	Het
Inpp5b	A	G	4: 124,687,174 (GRCm39)	D800G	probably damaging	Het
Itga11	A	G	9: 62,662,868 (GRCm39)	N528S	probably benign	Het
Kif19b	T	A	5: 140,448,070 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,714,708 (GRCm39)	F442L	probably benign	Het
Ldah	G	T	12: 8,318,430 (GRCm39)	A180S	possibly damaging	Het
Lingo1	T	C	9: 56,528,592 (GRCm39)	E5G	probably benign	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Liph	A	T	16: 21,774,862 (GRCm39)	L445Q	probably damaging	Het
Lonrf1	A	G	8: 36,703,235 (GRCm39)	Y314H	probably damaging	Het
Lrit3	A	T	3: 129,594,073 (GRCm39)	L168Q	probably damaging	Het
Mideas	T	A	12: 84,220,576 (GRCm39)	Q126L	probably damaging	Het
Mylk4	G	T	13: 32,899,950 (GRCm39)	T312K	probably damaging	Het
Myzap	A	T	9: 71,487,082 (GRCm39)	M15K	probably benign	Het
Ngf	G	A	3: 102,428,132 (GRCm39)	V298M	probably damaging	Het
Nlrp9a	A	G	7: 26,264,302 (GRCm39)	I741V	probably benign	Het
Nrxn2	T	C	19: 6,567,064 (GRCm39)	V1313A	possibly damaging	Het
Nuf2	C	T	1: 169,334,954 (GRCm39)		probably null	Het
Or13a27	G	A	7: 139,925,483 (GRCm39)	Q140*	probably null	Het
Or5m8	A	G	2: 85,822,464 (GRCm39)	Y101C	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Phykpl	A	T	11: 51,489,212 (GRCm39)	H346L	probably benign	Het
Plk4	C	A	3: 40,759,535 (GRCm39)	L144I	probably damaging	Het
Pole	C	A	5: 110,466,201 (GRCm39)	P1301Q	probably benign	Het
Prkch	T	A	12: 73,744,744 (GRCm39)	N252K	possibly damaging	Het
Psen2	A	T	1: 180,068,294 (GRCm39)		probably null	Het
Ptgds	C	A	2: 25,359,129 (GRCm39)	R42L	probably benign	Het
Ptprz1	A	G	6: 23,000,204 (GRCm39)	T765A	probably benign	Het
Rab6b	T	C	9: 103,041,061 (GRCm39)	F152L	possibly damaging	Het
Rbm12b2	T	A	4: 12,095,335 (GRCm39)	F731L	probably damaging	Het
Resf1	T	A	6: 149,228,239 (GRCm39)	Y428*	probably null	Het
Rnf32	T	C	5: 29,429,125 (GRCm39)	I234T	probably damaging	Het
Scart2	G	A	7: 139,874,716 (GRCm39)	G398D	probably damaging	Het
Scn8a	T	A	15: 100,933,332 (GRCm39)	I1512N	probably benign	Het
Senp6	T	A	9: 79,999,590 (GRCm39)	D81E	probably benign	Het
Slc26a7	T	G	4: 14,590,416 (GRCm39)	N125T	possibly damaging	Het
Sptlc1	A	T	13: 53,512,803 (GRCm39)	I185N	possibly damaging	Het
Syne2	C	A	12: 76,047,617 (GRCm39)	H4013N	probably benign	Het
Tbc1d9b	T	C	11: 50,062,005 (GRCm39)	V1171A	probably benign	Het
Ttn	A	G	2: 76,706,193 (GRCm39)	V9176A	unknown	Het
Vmn1r210	T	C	13: 23,011,432 (GRCm39)	I285V	probably damaging	Het
Wbp11	C	T	6: 136,795,021 (GRCm39)	V308I	possibly damaging	Het
Wnk2	A	C	13: 49,229,674 (GRCm39)	V950G	probably benign	Het
Zfp110	A	G	7: 12,578,521 (GRCm39)	N144S	probably benign	Het

Other mutations in Tmem63b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01681:Tmem63b	APN	17	45,974,497 (GRCm39)	missense	probably damaging	1.00
IGL02486:Tmem63b	APN	17	45,984,909 (GRCm39)	missense	probably damaging	0.97
IGL02519:Tmem63b	APN	17	45,976,134 (GRCm39)	missense	possibly damaging	0.46
IGL02893:Tmem63b	APN	17	45,972,826 (GRCm39)	missense	probably damaging	1.00
IGL03137:Tmem63b	APN	17	45,975,921 (GRCm39)	missense	probably damaging	0.98
R0211:Tmem63b	UTSW	17	45,972,839 (GRCm39)	missense	probably benign	0.00
R0211:Tmem63b	UTSW	17	45,972,839 (GRCm39)	missense	probably benign	0.00
R0276:Tmem63b	UTSW	17	45,986,299 (GRCm39)	splice site	probably benign
R0441:Tmem63b	UTSW	17	45,977,241 (GRCm39)	critical splice donor site	probably null
R0729:Tmem63b	UTSW	17	45,985,060 (GRCm39)	missense	probably damaging	1.00
R0749:Tmem63b	UTSW	17	45,977,041 (GRCm39)	missense	possibly damaging	0.89
R0834:Tmem63b	UTSW	17	45,971,870 (GRCm39)	missense	possibly damaging	0.93
R0835:Tmem63b	UTSW	17	45,971,870 (GRCm39)	missense	possibly damaging	0.93
R0865:Tmem63b	UTSW	17	45,972,445 (GRCm39)	missense	probably benign	0.02
R1144:Tmem63b	UTSW	17	45,977,353 (GRCm39)	missense	probably benign	0.07
R1448:Tmem63b	UTSW	17	45,989,904 (GRCm39)	missense	possibly damaging	0.89
R1468:Tmem63b	UTSW	17	45,989,904 (GRCm39)	missense	possibly damaging	0.89
R1468:Tmem63b	UTSW	17	45,989,904 (GRCm39)	missense	possibly damaging	0.89
R1538:Tmem63b	UTSW	17	45,989,904 (GRCm39)	missense	possibly damaging	0.89
R1853:Tmem63b	UTSW	17	45,972,223 (GRCm39)	missense	possibly damaging	0.68
R1935:Tmem63b	UTSW	17	45,989,887 (GRCm39)	critical splice donor site	probably null
R2078:Tmem63b	UTSW	17	45,974,462 (GRCm39)	missense	possibly damaging	0.91
R2518:Tmem63b	UTSW	17	45,977,080 (GRCm39)	missense	probably benign
R3911:Tmem63b	UTSW	17	45,988,884 (GRCm39)	missense	probably damaging	1.00
R5093:Tmem63b	UTSW	17	45,971,800 (GRCm39)	missense	probably damaging	1.00
R5186:Tmem63b	UTSW	17	45,972,403 (GRCm39)	missense	possibly damaging	0.68
R5364:Tmem63b	UTSW	17	45,975,653 (GRCm39)	unclassified	probably benign
R5396:Tmem63b	UTSW	17	45,980,888 (GRCm39)	missense	possibly damaging	0.72
R5548:Tmem63b	UTSW	17	45,975,884 (GRCm39)	missense	probably damaging	0.98
R5582:Tmem63b	UTSW	17	45,978,689 (GRCm39)	missense	probably benign
R5998:Tmem63b	UTSW	17	45,980,926 (GRCm39)	missense	possibly damaging	0.94
R6198:Tmem63b	UTSW	17	45,972,442 (GRCm39)	missense	probably benign	0.00
R6656:Tmem63b	UTSW	17	45,978,634 (GRCm39)	missense	probably benign
R6808:Tmem63b	UTSW	17	45,971,734 (GRCm39)	missense	probably benign	0.13
R6967:Tmem63b	UTSW	17	45,977,558 (GRCm39)	missense	probably benign	0.00
R7089:Tmem63b	UTSW	17	45,978,709 (GRCm39)	missense	probably benign	0.00
R7181:Tmem63b	UTSW	17	45,984,094 (GRCm39)	missense	probably benign	0.00
R7214:Tmem63b	UTSW	17	45,972,748 (GRCm39)	missense	probably benign	0.02
R7267:Tmem63b	UTSW	17	45,977,048 (GRCm39)	missense	probably benign
R7323:Tmem63b	UTSW	17	45,971,773 (GRCm39)	missense	possibly damaging	0.86
R7346:Tmem63b	UTSW	17	45,977,517 (GRCm39)	missense	probably benign
R8281:Tmem63b	UTSW	17	45,971,722 (GRCm39)	missense	probably benign	0.23
R8927:Tmem63b	UTSW	17	45,975,908 (GRCm39)	missense	probably damaging	1.00
R8928:Tmem63b	UTSW	17	45,975,908 (GRCm39)	missense	probably damaging	1.00
R9042:Tmem63b	UTSW	17	45,977,517 (GRCm39)	missense	probably benign
R9289:Tmem63b	UTSW	17	45,975,697 (GRCm39)	missense	probably benign	0.45
R9539:Tmem63b	UTSW	17	45,984,105 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAGAGGACCACATTGATGACC -3'
(R):5'- TGTACTCACCACTGTGGACC -3'

Sequencing Primer
(F):5'- CACATTGATGACCAGGCAGCG -3'
(R):5'- ACTGTGGACCCCAGTCTG -3'

Posted On

2022-11-14