Mutagenetix > Incidental Mutation

Incidental Mutation 'R7214:Tmem63b'

561349

Institutional Source

Beutler Lab

Gene Symbol

Tmem63b

Ensembl Gene

ENSMUSG00000036026

Gene Name

transmembrane protein 63b

Synonyms

MMRRC Submission

045286-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7214 (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 G at 45972748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 682 (N682T)

Ref Sequence

ENSEMBL: ENSMUSP00000109151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113523] [ENSMUST00000120717] [ENSMUST00000151350]

AlphaFold

Q3TWI9

Predicted Effect

probably benign
Transcript: ENSMUST00000113523
AA Change: N682T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: N682T

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: ENSMUST00000120717

SMART Domains

Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626

Domain	Start	End	E-Value	Type
CysPc	37	362	2.75e-157	SMART
calpain_III	366	523	2.57e-84	SMART
EFh	590	618	3.91e-4	SMART
EFh	620	648	6.88e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151350

SMART Domains

Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C2	94	153	1.5e-14	PFAM
low complexity region	163	174	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	C	T	8: 95,660,646 (GRCm39)	T95I		Het
Arap2	C	T	5: 62,906,681 (GRCm39)	V113I	probably benign	Het
Atraid	C	T	5: 31,209,590 (GRCm39)	Q85*	probably null	Het
Bcdin3d	T	C	15: 99,368,344 (GRCm39)	D285G	probably benign	Het
Bmal1	T	A	7: 112,898,610 (GRCm39)	I346K	probably benign	Het
Carmil3	T	C	14: 55,736,069 (GRCm39)	W604R	probably damaging	Het
Ccl6	C	T	11: 83,480,582 (GRCm39)		probably null	Het
Cct4	C	T	11: 22,940,616 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,156,285 (GRCm39)	R84Q	possibly damaging	Het
Cdt1	T	A	8: 123,295,012 (GRCm39)		probably null	Het
Cln3	C	T	7: 126,181,942 (GRCm39)	G40D	probably damaging	Het
Crlf3	T	C	11: 79,955,216 (GRCm39)	S47G	possibly damaging	Het
Csrp3	T	C	7: 48,480,385 (GRCm39)	K193R	probably benign	Het
Cxcl3	A	C	5: 90,934,219 (GRCm39)	E33A	probably damaging	Het
Cyp11b1	T	C	15: 74,708,708 (GRCm39)	D362G	probably benign	Het
Dnah2	T	C	11: 69,321,935 (GRCm39)	D3795G	probably damaging	Het
Dnah3	G	A	7: 119,521,965 (GRCm39)	A4076V	probably damaging	Het
Dnaja3	T	A	16: 4,519,046 (GRCm39)	I380N	possibly damaging	Het
Dock10	T	A	1: 80,546,246 (GRCm39)	H785L	probably benign	Het
Dop1b	T	G	16: 93,607,023 (GRCm39)	F2226V	possibly damaging	Het
Dscaml1	A	T	9: 45,581,437 (GRCm39)	I419F	probably benign	Het
Dyrk4	T	A	6: 126,862,200 (GRCm39)	I431F	probably benign	Het
Endog	C	T	2: 30,062,902 (GRCm39)	R181C	probably damaging	Het
Fam90a1a	A	T	8: 22,453,641 (GRCm39)	Y332F	probably benign	Het
Fastkd3	T	C	13: 68,737,499 (GRCm39)	I588T	probably benign	Het
Galnt9	G	A	5: 110,737,694 (GRCm39)	V217I	probably benign	Het
Gm973	A	T	1: 59,601,888 (GRCm39)	R501*	probably null	Het
Gnptab	C	T	10: 88,215,019 (GRCm39)		probably benign	Het
Gpn1	T	C	5: 31,660,761 (GRCm39)	F184S	probably damaging	Het
Imp3	G	T	9: 56,845,007 (GRCm39)	V73L	probably benign	Het
Ipo11	T	C	13: 107,032,365 (GRCm39)	D259G	probably null	Het
Jag1	T	C	2: 136,948,802 (GRCm39)	S142G	probably benign	Het
Klhl5	A	T	5: 65,289,098 (GRCm39)	E120V	probably benign	Het
Lct	C	A	1: 128,228,197 (GRCm39)	V1099L	probably benign	Het
Lrba	G	C	3: 86,235,633 (GRCm39)	W912C	probably damaging	Het
Lss	C	T	10: 76,383,305 (GRCm39)	T535I	probably damaging	Het
Mcts2	T	C	2: 152,529,297 (GRCm39)	I36T	probably benign	Het
Meikin	T	A	11: 54,302,738 (GRCm39)	N383K	probably benign	Het
Myo1g	T	C	11: 6,461,055 (GRCm39)	Y663C	probably damaging	Het
Nadk2	T	A	15: 9,108,342 (GRCm39)	M419K	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfat5	T	C	8: 108,020,515 (GRCm39)	S20P	probably damaging	Het
Nlrp1a	C	T	11: 71,014,119 (GRCm39)	C377Y	probably damaging	Het
Nlrp9a	T	C	7: 26,250,463 (GRCm39)	V76A	probably damaging	Het
Nrap	C	A	19: 56,366,567 (GRCm39)	A341S	probably benign	Het
Ntng2	T	C	2: 29,117,732 (GRCm39)	S239G	probably damaging	Het
Nup188	T	A	2: 30,197,566 (GRCm39)	C207S	possibly damaging	Het
Or10a4	T	C	7: 106,697,619 (GRCm39)	*316R	probably null	Het
Or10ak7	T	A	4: 118,791,146 (GRCm39)	I300F	possibly damaging	Het
Or1j17	T	C	2: 36,578,107 (GRCm39)	I31T	probably benign	Het
Or2ag1	T	C	7: 106,473,474 (GRCm39)		probably benign	Het
Or5b118	T	A	19: 13,448,337 (GRCm39)	M1K	probably null	Het
Or8c13	A	C	9: 38,091,318 (GRCm39)	V267G	probably damaging	Het
Or8k31-ps1	C	T	2: 86,356,150 (GRCm39)	V124I	probably damaging	Het
Pcdhgb2	C	A	18: 37,823,159 (GRCm39)	A50E	probably damaging	Het
Pgap1	A	T	1: 54,582,220 (GRCm39)	M209K	possibly damaging	Het
Plbd1	T	A	6: 136,589,829 (GRCm39)	D463V	probably damaging	Het
Plcg2	T	A	8: 118,310,288 (GRCm39)	I380N	probably damaging	Het
Pnpt1	T	C	11: 29,087,285 (GRCm39)	W184R	probably damaging	Het
Pptc7	G	A	5: 122,451,840 (GRCm39)	V202I	probably benign	Het
Prpf6	C	T	2: 181,282,389 (GRCm39)	A510V	probably damaging	Het
Prr5l	T	C	2: 101,559,777 (GRCm39)	Y235C	probably benign	Het
Ptprk	T	C	10: 28,450,905 (GRCm39)	V1022A	probably benign	Het
Rbl2	T	C	8: 91,810,057 (GRCm39)		probably null	Het
Rmnd1	T	C	10: 4,360,753 (GRCm39)	K348E	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,241 (GRCm39)	N433K	probably benign	Het
Scyl1	T	C	19: 5,810,057 (GRCm39)	T590A	probably benign	Het
Sdhd	A	G	9: 50,508,533 (GRCm39)	V111A	possibly damaging	Het
Sec24b	G	T	3: 129,827,509 (GRCm39)	P330Q	probably benign	Het
Serpinb6d	C	T	13: 33,848,128 (GRCm39)	P31S	probably damaging	Het
Slc26a9	A	T	1: 131,687,211 (GRCm39)	R457W	probably damaging	Het
Slc5a8	G	A	10: 88,755,364 (GRCm39)	M490I	probably benign	Het
Slx4	A	G	16: 3,806,844 (GRCm39)	I533T	probably benign	Het
Slx4ip	T	A	2: 136,888,650 (GRCm39)	F110L	probably benign	Het
Smchd1	T	C	17: 71,652,359 (GRCm39)	R2000G	probably benign	Het
Snx8	T	C	5: 140,346,008 (GRCm39)	E75G	possibly damaging	Het
Stab2	C	A	10: 86,735,705 (GRCm39)	C1292F	probably damaging	Het
Swt1	A	T	1: 151,270,364 (GRCm39)	M617K	possibly damaging	Het
Thoc2l	A	G	5: 104,670,229 (GRCm39)	T1584A	probably benign	Het
Tiam2	T	A	17: 3,568,687 (GRCm39)	I1611N	possibly damaging	Het
Trio	C	T	15: 27,871,273 (GRCm39)	V674M	probably damaging	Het
Trpc3	G	A	3: 36,704,286 (GRCm39)	T557M	possibly damaging	Het
Vac14	T	G	8: 111,397,674 (GRCm39)	L463R	probably damaging	Het
Vmn2r43	C	T	7: 8,256,379 (GRCm39)		probably null	Het
Wdr49	A	T	3: 75,265,751 (GRCm39)	Y232N	possibly damaging	Het
Wdr90	T	C	17: 26,064,367 (GRCm39)	M1835V	probably benign	Het
Xpc	T	C	6: 91,469,320 (GRCm39)	E809G	probably damaging	Het
Zfhx3	A	T	8: 109,675,493 (GRCm39)	Q2181L	probably damaging	Het
Zfp442	T	C	2: 150,251,201 (GRCm39)	T234A	probably benign	Het
Zfp764	A	T	7: 127,004,450 (GRCm39)	M227K	probably benign	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp957	A	G	14: 79,450,750 (GRCm39)	S350P	unknown	Het
Zscan29	T	A	2: 120,999,761 (GRCm39)	K147*	probably null	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
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
R9794:Tmem63b	UTSW	17	45,977,252 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTGTCCAAAGCAGACGTG -3'
(R):5'- ATCTCAAGGCCAGGTACAGC -3'

Sequencing Primer
(F):5'- AAGGGGCTCACTACCTCTGAC -3'
(R):5'- GTACAGCCTGTGGTCCAC -3'

Posted On

2019-06-26