Mutagenetix > Incidental Mutation

Incidental Mutation 'R7346:Tmem63b'

570236

Institutional Source

Beutler Lab

Gene Symbol

Tmem63b

Ensembl Gene

ENSMUSG00000036026

Gene Name

transmembrane protein 63b

Synonyms

MMRRC Submission

045373-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7346 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45971102-45997212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45977517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 370 (T370A)

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: T370A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: T370A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,914,587 (GRCm39)	P52S	unknown	Het
Adarb2	A	G	13: 8,620,420 (GRCm39)	E302G	probably damaging	Het
Adgrf5	T	A	17: 43,762,070 (GRCm39)	L1255H	probably damaging	Het
Adra1a	T	A	14: 66,875,733 (GRCm39)	I236N	probably benign	Het
As3mt	T	C	19: 46,708,891 (GRCm39)	F295S	probably damaging	Het
Bmp5	G	A	9: 75,780,642 (GRCm39)	R313Q	probably damaging	Het
Ccnj	T	A	19: 40,833,394 (GRCm39)	S191T	probably benign	Het
Clk2	T	A	3: 89,080,852 (GRCm39)		probably null	Het
Cpz	T	C	5: 35,675,000 (GRCm39)	E83G	probably damaging	Het
Cts3	A	G	13: 61,715,434 (GRCm39)	I133T	probably benign	Het
Dars2	C	T	1: 160,874,342 (GRCm39)		probably null	Het
Dsel	A	T	1: 111,788,798 (GRCm39)	V579D	probably damaging	Het
Dync1h1	C	A	12: 110,602,076 (GRCm39)	A2038E	probably damaging	Het
Eaf1	A	G	14: 31,216,777 (GRCm39)		probably benign	Het
Fsip2	A	C	2: 82,828,524 (GRCm39)	I6774L	probably benign	Het
Glis2	T	C	16: 4,431,432 (GRCm39)	F320L	possibly damaging	Het
Hcar1	A	G	5: 124,017,693 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,797,104 (GRCm39)	H2211Q	probably benign	Het
Hmcn1	A	G	1: 150,559,496 (GRCm39)	I2385T	probably damaging	Het
Ifi44	T	A	3: 151,438,094 (GRCm39)	M398L	probably benign	Het
Il16	C	T	7: 83,293,249 (GRCm39)	E1273K	probably damaging	Het
Inpp5j	G	A	11: 3,451,065 (GRCm39)	T528I	probably damaging	Het
Kbtbd6	C	T	14: 79,690,627 (GRCm39)	P441S	probably damaging	Het
Kcnt1	C	T	2: 25,753,855 (GRCm39)		probably benign	Het
Kif26b	T	C	1: 178,358,306 (GRCm39)	L139P	probably damaging	Het
Klb	C	T	5: 65,505,974 (GRCm39)	Q74*	probably null	Het
L3mbtl1	G	A	2: 162,808,926 (GRCm39)	V600I	probably benign	Het
Lcp1	C	T	14: 75,447,946 (GRCm39)	A317V	possibly damaging	Het
Lipc	C	T	9: 70,720,029 (GRCm39)	G326D	probably damaging	Het
Mbnl2	T	A	14: 120,616,694 (GRCm39)	F103I	probably benign	Het
Mdm1	G	T	10: 118,000,193 (GRCm39)	E609*	probably null	Het
Med16	A	G	10: 79,744,650 (GRCm39)		probably null	Het
Mga	T	C	2: 119,766,008 (GRCm39)	V1424A	possibly damaging	Het
Mocs2	G	T	13: 114,964,710 (GRCm39)		probably null	Het
Morc1	C	T	16: 48,451,263 (GRCm39)		probably null	Het
Mpc2	T	A	1: 165,307,080 (GRCm39)	W94R	probably damaging	Het
Mrm3	G	A	11: 76,141,002 (GRCm39)	V337I	possibly damaging	Het
N4bp3	T	C	11: 51,536,433 (GRCm39)	H133R	probably benign	Het
Ncam2	G	T	16: 81,420,256 (GRCm39)	G810V	probably damaging	Het
Nipbl	T	C	15: 8,373,090 (GRCm39)	E1052G	possibly damaging	Het
Nlrp12	C	T	7: 3,297,887 (GRCm39)	V95M	probably damaging	Het
Nrip1	T	C	16: 76,090,244 (GRCm39)	N438D	possibly damaging	Het
Nsun4	C	A	4: 115,909,035 (GRCm39)	M508I	probably benign	Het
Pla2g2c	T	C	4: 138,461,650 (GRCm39)	S40P	probably damaging	Het
Plec	A	G	15: 76,082,178 (GRCm39)		probably null	Het
Ppfia2	G	T	10: 106,693,356 (GRCm39)	M620I	possibly damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prkd1	A	T	12: 50,695,617 (GRCm39)	I47N	possibly damaging	Het
Prr14l	T	C	5: 32,988,028 (GRCm39)	D489G	probably benign	Het
Ptch2	T	A	4: 116,971,849 (GRCm39)	Y1124N	probably benign	Het
Ptpra	T	G	2: 130,395,320 (GRCm39)	Y808D	probably damaging	Het
Rint1	T	A	5: 24,020,651 (GRCm39)	F558Y	possibly damaging	Het
Rnf215	T	A	11: 4,089,792 (GRCm39)	C268*	probably null	Het
Slc25a13	T	C	6: 6,181,100 (GRCm39)	E28G	possibly damaging	Het
Slc38a8	G	T	8: 120,226,554 (GRCm39)	Y78*	probably null	Het
Slc4a7	T	C	14: 14,775,000 (GRCm38)	M810T	probably damaging	Het
Slitrk1	A	G	14: 109,150,591 (GRCm39)	V40A	possibly damaging	Het
Sobp	A	T	10: 42,898,831 (GRCm39)	S251R	probably damaging	Het
Spata31d1a	G	A	13: 59,851,015 (GRCm39)	S371L	probably benign	Het
Tada2b	T	C	5: 36,634,180 (GRCm39)	T133A	possibly damaging	Het
Tbc1d20	A	G	2: 152,146,881 (GRCm39)	D90G	probably benign	Het
Tek	T	A	4: 94,715,533 (GRCm39)	I408K	probably benign	Het
Tgfb2	A	G	1: 186,382,077 (GRCm39)	F150S	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tspan17	C	G	13: 54,940,434 (GRCm39)	L34V	probably benign	Het
Vmn1r238	A	T	18: 3,123,151 (GRCm39)	Y88N	probably damaging	Het
Vmn1r85	A	G	7: 12,818,964 (GRCm39)	I60T	probably damaging	Het
Vmn2r96	T	C	17: 18,803,029 (GRCm39)	M313T	probably benign	Het
Zp3r	G	A	1: 130,511,217 (GRCm39)	S387F	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
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'- GGCATTTGCACACGTTGAAG -3'
(R):5'- GGACAGAGTGACTCATACGCAG -3'

Sequencing Primer
(F):5'- GCACACGTTGAAGTCCTTTAG -3'
(R):5'- GTGACTCATACGCAGAAAAAGCTTCG -3'

Posted On

2019-09-13