Mutagenetix > Incidental Mutation

Incidental Mutation 'R1853:Tmem63b'

208383

Institutional Source

Beutler Lab

Gene Symbol

Tmem63b

Ensembl Gene

ENSMUSG00000036026

Gene Name

transmembrane protein 63b

Synonyms

MMRRC Submission

039877-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45971102-45997212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45972223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 745 (H745Y)

Ref Sequence

ENSEMBL: ENSMUSP00000109151 (fasta)

Gene Model

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

AlphaFold

Q3TWI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113523
AA Change: H745Y

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: H745Y

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

noncoding transcript
Transcript: ENSMUST00000129177

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156224

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 69,901,696 (GRCm39)	K554E	probably damaging	Het
Acap2	C	T	16: 30,936,122 (GRCm39)	E322K	probably damaging	Het
Adam32	T	C	8: 25,388,642 (GRCm39)	Y354C	probably benign	Het
Agl	A	T	3: 116,572,971 (GRCm39)	Y789*	probably null	Het
Aida	A	G	1: 183,087,380 (GRCm39)	T68A	probably benign	Het
Aldh3b3	T	A	19: 4,015,822 (GRCm39)	L264Q	probably damaging	Het
Anks6	T	C	4: 47,049,387 (GRCm39)	T173A	probably benign	Het
Ankzf1	A	G	1: 75,174,772 (GRCm39)		probably null	Het
Apob	A	T	12: 8,060,928 (GRCm39)	K3137*	probably null	Het
Arhgef16	C	T	4: 154,375,563 (GRCm39)	V144I	probably benign	Het
Arhgef2	A	T	3: 88,540,222 (GRCm39)	T107S	possibly damaging	Het
Ark2c	T	A	18: 77,550,671 (GRCm39)	S279C	possibly damaging	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
Atp6ap1l	T	C	13: 91,031,707 (GRCm39)	E325G	probably damaging	Het
BC035947	T	C	1: 78,475,653 (GRCm39)	N293S	possibly damaging	Het
Bhmt	C	T	13: 93,761,843 (GRCm39)	V147M	probably damaging	Het
Ccdc112	A	T	18: 46,418,767 (GRCm39)	H447Q	probably benign	Het
Cd274	T	A	19: 29,357,882 (GRCm39)	N191K	probably damaging	Het
Ckmt1	C	T	2: 121,191,131 (GRCm39)	T181I	probably damaging	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Col28a1	T	G	6: 8,014,574 (GRCm39)	I944L	probably benign	Het
Cttnbp2	T	C	6: 18,408,601 (GRCm39)	T1007A	probably benign	Het
Cux2	G	T	5: 122,007,184 (GRCm39)	P826T	possibly damaging	Het
Cyren	A	G	6: 34,852,494 (GRCm39)	V67A	probably damaging	Het
Dap3	A	T	3: 88,838,233 (GRCm39)	V86E	probably damaging	Het
Ddah1	A	G	3: 145,597,304 (GRCm39)	I180M	probably benign	Het
Ddt	T	C	10: 75,609,138 (GRCm39)	E7G	possibly damaging	Het
Dhx57	A	T	17: 80,582,308 (GRCm39)	Y432*	probably null	Het
Dpp9	T	C	17: 56,509,885 (GRCm39)	I314V	probably benign	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Ercc6	T	A	14: 32,298,773 (GRCm39)	I1387N	possibly damaging	Het
Fancg	T	C	4: 43,009,727 (GRCm39)	E57G	probably benign	Het
Fcgbpl1	C	T	7: 27,854,971 (GRCm39)	Q1866*	probably null	Het
Fkbp5	A	T	17: 28,648,281 (GRCm39)	C103S	possibly damaging	Het
Gm14403	C	A	2: 177,200,932 (GRCm39)	H293N	probably damaging	Het
Gm4353	G	A	7: 115,682,804 (GRCm39)	P259L	probably benign	Het
Gm4787	T	A	12: 81,425,108 (GRCm39)	H350L	probably damaging	Het
Hibch	T	C	1: 52,940,494 (GRCm39)		probably null	Het
Impg2	T	C	16: 56,080,640 (GRCm39)	S815P	probably damaging	Het
Ipo11	A	T	13: 106,997,395 (GRCm39)	I688K	probably benign	Het
Kcnd3	A	T	3: 105,367,068 (GRCm39)	T313S	probably damaging	Het
Kctd14	A	T	7: 97,102,631 (GRCm39)	S38C	possibly damaging	Het
Kdm3b	G	T	18: 34,966,446 (GRCm39)	R1660L	probably damaging	Het
Kdr	C	T	5: 76,113,565 (GRCm39)	G768S	possibly damaging	Het
Klhl2	G	A	8: 65,275,658 (GRCm39)	H82Y	probably benign	Het
Lama3	A	T	18: 12,646,762 (GRCm39)	T1759S	possibly damaging	Het
Lamb1	T	G	12: 31,368,271 (GRCm39)	C1134G	probably damaging	Het
Macf1	T	C	4: 123,406,513 (GRCm39)		probably null	Het
Mlph	C	T	1: 90,873,389 (GRCm39)	Q567*	probably null	Het
Mocos	A	C	18: 24,829,026 (GRCm39)	E777A	probably damaging	Het
Neil1	T	A	9: 57,051,999 (GRCm39)	Q214L	probably damaging	Het
Nes	A	G	3: 87,883,114 (GRCm39)	T458A	possibly damaging	Het
Nlgn1	A	T	3: 26,187,671 (GRCm39)	N71K	possibly damaging	Het
Nr4a1	T	C	15: 101,169,645 (GRCm39)	I305T	probably benign	Het
Nup58	T	C	14: 60,481,996 (GRCm39)	T123A	possibly damaging	Het
Oas1c	A	T	5: 120,946,060 (GRCm39)	V146E	probably damaging	Het
Oit3	C	T	10: 59,277,444 (GRCm39)		probably null	Het
Or12k8	A	T	2: 36,975,232 (GRCm39)	F176Y	probably damaging	Het
Or4k15c	A	G	14: 50,321,577 (GRCm39)	L187P	probably damaging	Het
Osbp	T	C	19: 11,951,255 (GRCm39)	S267P	possibly damaging	Het
Pclo	T	A	5: 14,726,698 (GRCm39)		probably benign	Het
Pde9a	C	T	17: 31,674,094 (GRCm39)	P60S	probably damaging	Het
Pdia3	T	C	2: 121,262,144 (GRCm39)	I205T	probably benign	Het
Pdia4	A	T	6: 47,790,161 (GRCm39)	D26E	unknown	Het
Pds5a	A	G	5: 65,781,372 (GRCm39)	V1036A	possibly damaging	Het
Pitx3	C	T	19: 46,125,912 (GRCm39)	G4R	probably benign	Het
Pnn	T	A	12: 59,118,399 (GRCm39)	N327K	probably damaging	Het
Pole	T	G	5: 110,454,719 (GRCm39)	I984R	possibly damaging	Het
Psme2	T	A	14: 55,825,936 (GRCm39)	I124F	probably damaging	Het
Pstpip2	T	A	18: 77,959,499 (GRCm39)	L198Q	probably damaging	Het
Siglece	A	G	7: 43,309,360 (GRCm39)	F66S	probably benign	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Snd1	T	A	6: 28,545,563 (GRCm39)	I373N	probably damaging	Het
Srrm2	A	G	17: 24,039,499 (GRCm39)	T2144A	probably damaging	Het
Sst	A	G	16: 23,709,403 (GRCm39)	L31P	probably damaging	Het
Stab1	C	T	14: 30,862,420 (GRCm39)	V2305M	probably damaging	Het
Stard9	T	C	2: 120,519,232 (GRCm39)	I545T	probably damaging	Het
Tcaim	T	C	9: 122,655,271 (GRCm39)	W248R	probably damaging	Het
Tepsin	A	C	11: 119,989,462 (GRCm39)	F13C	probably damaging	Het
Terf1	T	A	1: 15,889,162 (GRCm39)	L197*	probably null	Het
Tiam2	C	T	17: 3,465,410 (GRCm39)	R380C	probably damaging	Het
Trim40	A	G	17: 37,199,970 (GRCm39)	L36P	probably damaging	Het
Trim72	A	G	7: 127,608,254 (GRCm39)	I251V	probably benign	Het
Trio	T	C	15: 27,756,622 (GRCm39)	Y914C	probably damaging	Het
Vmn2r113	G	A	17: 23,164,501 (GRCm39)	V135I	probably benign	Het
Vmn2r117	T	A	17: 23,696,429 (GRCm39)	H326L	probably damaging	Het
Vmn2r28	A	T	7: 5,484,246 (GRCm39)	C651*	probably null	Het
Xpnpep1	T	C	19: 52,994,641 (GRCm39)	E329G	probably benign	Het
Xpo4	G	A	14: 57,823,364 (GRCm39)	T1042M	possibly damaging	Het
Ypel1	A	C	16: 16,925,087 (GRCm39)	D28E	probably benign	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,344,701 (GRCm39)		probably null	Het
Zfp51	A	T	17: 21,684,585 (GRCm39)	H400L	probably damaging	Het
Zfp518b	A	T	5: 38,830,750 (GRCm39)	F418L	probably benign	Het
Zfp54	T	A	17: 21,654,404 (GRCm39)	Y299*	probably null	Het
Zfp672	T	C	11: 58,207,790 (GRCm39)	H177R	probably benign	Het
Zfp692	C	A	11: 58,200,805 (GRCm39)	P229T	possibly damaging	Het
Zswim4	A	T	8: 84,950,829 (GRCm39)	C533S	probably damaging	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
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
R9794:Tmem63b	UTSW	17	45,977,252 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGAGTAGTTCTGGCATTCACTG -3'
(R):5'- ACGTCTGCTTTGGACACTTC -3'

Sequencing Primer
(F):5'- TCACTGCCGTGAGATCAGGAAC -3'
(R):5'- GCTTTGGACACTTCAAATACCTCAG -3'

Posted On

2014-06-23