Mutagenetix > Incidental Mutation

Incidental Mutation 'R0729:Tmem63b'

67421

Institutional Source

Beutler Lab

Gene Symbol

Tmem63b

Ensembl Gene

ENSMUSG00000036026

Gene Name

transmembrane protein 63b

Synonyms

MMRRC Submission

038910-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45971102-45997212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45985060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 179 (S179P)

Ref Sequence

ENSEMBL: ENSMUSP00000118826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113523] [ENSMUST00000127065] [ENSMUST00000133741] [ENSMUST00000143907] [ENSMUST00000145873] [ENSMUST00000156254]

AlphaFold

Q3TWI9

Predicted Effect

probably benign
Transcript: ENSMUST00000113523
AA Change: S179P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: S179P

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 damaging
Transcript: ENSMUST00000127065
AA Change: S179P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118826
Gene: ENSMUSG00000036026
AA Change: S179P

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	201	1.4e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133741
AA Change: S166P

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115408
Gene: ENSMUSG00000036026
AA Change: S166P

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
Pfam:RSN1_TM	88	213	2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143907

SMART Domains

Protein: ENSMUSP00000120579
Gene: ENSMUSG00000036026

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
low complexity region	82	92	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145873
AA Change: S166P

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121681
Gene: ENSMUSG00000036026
AA Change: S166P

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
AA Change: S179P

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118838
Gene: ENSMUSG00000036026
AA Change: S179P

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

Meta Mutation Damage Score

0.8288

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.0%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,050,281 (GRCm39)	A828S	probably benign	Het
Acsm3	T	C	7: 119,383,207 (GRCm39)		probably benign	Het
Adamts12	G	A	15: 11,255,769 (GRCm39)	R446H	possibly damaging	Het
Adgrb1	A	G	15: 74,420,398 (GRCm39)	N849S	probably damaging	Het
Ankra2	A	G	13: 98,408,235 (GRCm39)	D228G	probably damaging	Het
Bicd1	T	C	6: 149,414,412 (GRCm39)	V375A	probably damaging	Het
Blvrb	A	G	7: 27,147,555 (GRCm39)	K5E	possibly damaging	Het
Cacna2d2	A	G	9: 107,394,456 (GRCm39)	N573D	probably benign	Het
Calhm2	C	A	19: 47,121,356 (GRCm39)	G271V	possibly damaging	Het
Capn13	C	T	17: 73,629,064 (GRCm39)	G581E	probably damaging	Het
Capzb	T	C	4: 139,016,288 (GRCm39)		probably benign	Het
Casd1	T	C	6: 4,619,753 (GRCm39)		probably benign	Het
Clca4b	A	G	3: 144,634,111 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crx	A	G	7: 15,605,058 (GRCm39)		probably benign	Het
Cyp2c68	T	C	19: 39,727,994 (GRCm39)		probably benign	Het
Dcaf8	T	A	1: 172,000,221 (GRCm39)	D126E	probably benign	Het
Ddx31	T	C	2: 28,764,186 (GRCm39)	I464T	probably damaging	Het
Dhx32	G	A	7: 133,339,150 (GRCm39)	T155I	probably benign	Het
Elac2	C	A	11: 64,889,349 (GRCm39)	P567T	possibly damaging	Het
Fat4	A	G	3: 39,054,444 (GRCm39)		probably benign	Het
Fh1	T	G	1: 175,442,383 (GRCm39)	N156H	probably damaging	Het
Gm10064	T	C	5: 122,835,584 (GRCm39)		noncoding transcript	Het
Gm14137	A	G	2: 119,005,834 (GRCm39)	E131G	probably benign	Het
Gpr22	T	A	12: 31,759,312 (GRCm39)	K233M	probably damaging	Het
Gpr63	A	G	4: 25,007,480 (GRCm39)	N68S	probably benign	Het
Gypa	C	T	8: 81,223,421 (GRCm39)	P66S	unknown	Het
Htr2a	A	T	14: 74,879,587 (GRCm39)	Q72L	probably benign	Het
Klhdc7b	C	T	15: 89,271,598 (GRCm39)	R827*	probably null	Het
Leo1	G	A	9: 75,364,420 (GRCm39)	R520Q	possibly damaging	Het
Lrrc66	T	C	5: 73,765,757 (GRCm39)	M429V	probably benign	Het
Lrrc74a	C	T	12: 86,792,353 (GRCm39)	Q225*	probably null	Het
Mamdc4	T	A	2: 25,460,048 (GRCm39)	N68Y	probably damaging	Het
Map3k10	G	A	7: 27,360,992 (GRCm39)	P507L	probably damaging	Het
Methig1	T	A	15: 100,272,870 (GRCm39)	C68S	probably benign	Het
Metrn	C	T	17: 26,015,202 (GRCm39)		probably benign	Het
Mmp12	C	T	9: 7,358,290 (GRCm39)	T392I	possibly damaging	Het
Mss51	A	T	14: 20,533,160 (GRCm39)	I437N	probably damaging	Het
Mtus2	A	G	5: 148,014,097 (GRCm39)	T297A	probably benign	Het
Myo10	T	C	15: 25,722,243 (GRCm39)		probably benign	Het
Ncoa7	G	A	10: 30,567,575 (GRCm39)	P319S	probably benign	Het
Nlrp4d	A	T	7: 10,111,612 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,923,535 (GRCm39)	S6455P	probably damaging	Het
Or5b97	T	C	19: 12,878,259 (GRCm39)	N295S	probably damaging	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Pcdh12	A	G	18: 38,415,517 (GRCm39)	I536T	probably benign	Het
Pex5l	G	T	3: 33,008,685 (GRCm39)		probably benign	Het
Pla2g2e	A	C	4: 138,608,046 (GRCm39)	K43Q	possibly damaging	Het
Rasa4	T	C	5: 136,130,924 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,328,234 (GRCm39)	R1079W	probably damaging	Het
Sez6	A	G	11: 77,867,411 (GRCm39)	T803A	probably benign	Het
Shcbp1	T	A	8: 4,786,297 (GRCm39)	N602Y	probably benign	Het
Slc16a13	G	A	11: 70,109,857 (GRCm39)	P215S	probably damaging	Het
Slc39a6	T	C	18: 24,734,527 (GRCm39)	Q54R	probably benign	Het
Smg1	C	A	7: 117,745,512 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,797,156 (GRCm39)	N110D	probably damaging	Het
Sptbn1	A	T	11: 30,060,902 (GRCm39)	S2010T	probably damaging	Het
Sun1	T	A	5: 139,223,619 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,860,736 (GRCm39)	E717G	probably damaging	Het
Tle1	A	T	4: 72,044,679 (GRCm39)		probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Trpm3	T	A	19: 22,965,153 (GRCm39)	F1549L	probably benign	Het
Ubr4	A	T	4: 139,212,631 (GRCm39)	Y5063F	possibly damaging	Het
Uroc1	T	A	6: 90,313,937 (GRCm39)	Y75N	probably damaging	Het
Vmn2r70	T	C	7: 85,215,112 (GRCm39)	T141A	probably benign	Het
Vps13c	A	G	9: 67,868,931 (GRCm39)	K3128E	probably damaging	Het
Wdr26	T	C	1: 181,013,470 (GRCm39)		probably null	Het
Wrn	T	A	8: 33,738,946 (GRCm39)		probably null	Het
Zfp106	C	T	2: 120,385,729 (GRCm39)	V13M	probably damaging	Het
Zfp456	G	A	13: 67,514,663 (GRCm39)	H348Y	probably damaging	Het
Zfpm1	G	A	8: 123,063,398 (GRCm39)	R819H	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
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
R9794:Tmem63b	UTSW	17	45,977,252 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCAAGTTGGCAATGGTGGTTCTCC -3'
(R):5'- CCCAGGAAATTGGGATGGGAAGTTC -3'

Sequencing Primer
(F):5'- AATGGTGGTTCTCCCAAAGC -3'
(R):5'- GATGGGAAGTTCTGTCTCAACAC -3'

Posted On

2013-09-03