Mutagenetix > Incidental Mutation

Incidental Mutation 'R8390:Tmem236'

647308

Institutional Source

Beutler Lab

Gene Symbol

Tmem236

Ensembl Gene

ENSMUSG00000061531

Gene Name

transmembrane protein 236

Synonyms

Fam23a, 2010003H20Rik

MMRRC Submission

067755-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8390 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14179335-14226804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14224168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 319 (L319P)

Ref Sequence

ENSEMBL: ENSMUSP00000076722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077517]

AlphaFold

A2ARJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000077517
AA Change: L319P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076722
Gene: ENSMUSG00000061531
AA Change: L319P

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	82	104	N/A	INTRINSIC
low complexity region	119	143	N/A	INTRINSIC
transmembrane domain	256	275	N/A	INTRINSIC
transmembrane domain	295	314	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,830,841 (GRCm39)	F50I	unknown	Het
Abca9	A	T	11: 110,036,456 (GRCm39)	M551K	probably benign	Het
Adgrl3	T	C	5: 81,914,057 (GRCm39)	S1145P	probably damaging	Het
Brix1	C	T	15: 10,485,954 (GRCm39)	R9H	probably benign	Het
C1d	T	C	11: 17,213,993 (GRCm39)	V83A	probably damaging	Het
Ciz1	G	T	2: 32,257,335 (GRCm39)	V127L	probably benign	Het
Csnk1g3	A	T	18: 54,081,150 (GRCm39)	T374S	probably benign	Het
Elavl1	T	A	8: 4,339,623 (GRCm39)	K320*	probably null	Het
Foxn3	T	A	12: 99,355,000 (GRCm39)	M55L	probably benign	Het
Gm14399	A	T	2: 174,972,605 (GRCm39)	Y383*	probably null	Het
H2-M10.5	T	A	17: 37,085,487 (GRCm39)	H215Q	probably benign	Het
Hsd17b13	C	A	5: 104,120,512 (GRCm39)	C80F	probably damaging	Het
Ifi206	G	T	1: 173,308,511 (GRCm39)	T495N		Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,769,534 (GRCm39)	I86N	probably damaging	Het
Iqcf3	T	G	9: 106,438,175 (GRCm39)	E16A	unknown	Het
Kcnh5	T	A	12: 75,134,532 (GRCm39)	D339V	probably damaging	Het
Lmbr1	C	T	5: 29,440,040 (GRCm39)	M441I	probably benign	Het
Me3	G	T	7: 89,498,803 (GRCm39)	G461V	probably damaging	Het
Mepce	A	G	5: 137,783,441 (GRCm39)	L295P	possibly damaging	Het
Mtpap	T	A	18: 4,396,141 (GRCm39)	Y478N	probably damaging	Het
Myl12a	T	C	17: 71,303,231 (GRCm39)	M74V	probably benign	Het
Neil3	A	T	8: 54,062,559 (GRCm39)	M99K	probably damaging	Het
Nlrp3	A	G	11: 59,442,616 (GRCm39)	T723A	possibly damaging	Het
Obscn	A	T	11: 58,892,870 (GRCm39)	I6792N	probably benign	Het
Or13a19	G	T	7: 139,903,027 (GRCm39)	W138C	possibly damaging	Het
Or2d2	A	G	7: 106,728,522 (GRCm39)	L26P	probably benign	Het
Or5al7	A	G	2: 85,993,266 (GRCm39)	V9A	possibly damaging	Het
Or8b49	T	A	9: 38,505,887 (GRCm39)	Y123*	probably null	Het
Or8h10	G	A	2: 86,808,501 (GRCm39)	T213I	probably benign	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pitx2	C	A	3: 129,012,507 (GRCm39)	N312K	probably damaging	Het
Pot1b	C	A	17: 55,999,739 (GRCm39)	V229L	probably benign	Het
Psmd1	A	G	1: 86,006,329 (GRCm39)	I232V	possibly damaging	Het
Rif1	A	G	2: 52,000,935 (GRCm39)	E1463G	probably damaging	Het
Scn5a	T	A	9: 119,368,604 (GRCm39)	Y307F	possibly damaging	Het
Shprh	G	A	10: 11,063,727 (GRCm39)	E1267K	possibly damaging	Het
Smtnl1	A	T	2: 84,645,694 (GRCm39)	Y392*	probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,444,896 (GRCm39)	G2268R	probably benign	Het
Tex47	G	A	5: 7,355,301 (GRCm39)	E161K	probably benign	Het
Timd6	G	T	11: 46,468,082 (GRCm39)	R52L	probably damaging	Het
Tnk1	T	C	11: 69,742,695 (GRCm39)	T606A	possibly damaging	Het
Tnrc6a	A	G	7: 122,761,794 (GRCm39)	T81A	probably damaging	Het
Trav6d-4	A	T	14: 52,991,092 (GRCm39)	T46S	probably benign	Het
Wdr19	T	A	5: 65,381,210 (GRCm39)	Y411*	probably null	Het
Zfp553	A	G	7: 126,835,476 (GRCm39)	T344A	probably damaging	Het
Zfp62	G	A	11: 49,106,019 (GRCm39)	G37S	probably benign	Het

Other mutations in Tmem236

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Tmem236	APN	2	14,224,189 (GRCm39)	missense	probably damaging	1.00
IGL01363:Tmem236	APN	2	14,179,441 (GRCm39)	missense	probably damaging	1.00
IGL01980:Tmem236	APN	2	14,223,716 (GRCm39)	missense	probably benign	0.16
IGL02749:Tmem236	APN	2	14,224,132 (GRCm39)	missense	probably damaging	1.00
R0172:Tmem236	UTSW	2	14,223,694 (GRCm39)	missense	probably benign	0.06
R1470:Tmem236	UTSW	2	14,223,732 (GRCm39)	missense	probably benign	0.22
R1470:Tmem236	UTSW	2	14,223,732 (GRCm39)	missense	probably benign	0.22
R1519:Tmem236	UTSW	2	14,197,091 (GRCm39)	missense	probably benign	0.00
R1923:Tmem236	UTSW	2	14,224,117 (GRCm39)	missense	probably damaging	1.00
R2147:Tmem236	UTSW	2	14,223,861 (GRCm39)	missense	probably benign	0.03
R4226:Tmem236	UTSW	2	14,179,437 (GRCm39)	nonsense	probably null
R4551:Tmem236	UTSW	2	14,223,964 (GRCm39)	missense	probably benign	0.02
R4904:Tmem236	UTSW	2	14,200,803 (GRCm39)	missense	probably benign
R5168:Tmem236	UTSW	2	14,197,139 (GRCm39)	critical splice donor site	probably null
R5283:Tmem236	UTSW	2	14,179,644 (GRCm39)	missense	probably benign	0.01
R5306:Tmem236	UTSW	2	14,223,975 (GRCm39)	nonsense	probably null
R5334:Tmem236	UTSW	2	14,223,871 (GRCm39)	missense	possibly damaging	0.85
R6516:Tmem236	UTSW	2	14,200,791 (GRCm39)	missense	probably benign	0.00
R6604:Tmem236	UTSW	2	14,179,512 (GRCm39)	missense	probably benign	0.03
R7689:Tmem236	UTSW	2	14,197,076 (GRCm39)	missense	probably damaging	0.99
R9157:Tmem236	UTSW	2	14,223,889 (GRCm39)	missense	probably benign	0.00
R9630:Tmem236	UTSW	2	14,223,815 (GRCm39)	missense	probably benign
X0062:Tmem236	UTSW	2	14,224,089 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmem236	UTSW	2	14,179,538 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGTACCCGGTCTACATATTCAG -3'
(R):5'- AGTGATGTCATGACTCCTGTC -3'

Sequencing Primer
(F):5'- ACCCGGTCTACATATTCAGTTTTATC -3'
(R):5'- AGCACCATTATATACGTGTGTGTG -3'

Posted On

2020-09-02