Mutagenetix > Incidental Mutation

Incidental Mutation 'R5472:Tmem45b'

433872

Institutional Source

Beutler Lab

Gene Symbol

Tmem45b

Ensembl Gene

ENSMUSG00000041737

Gene Name

transmembrane protein 45b

Synonyms

MMRRC Submission

043033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31426196-31464462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31428044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 211 (D211V)

Ref Sequence

ENSEMBL: ENSMUSP00000042313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048050] [ENSMUST00000213807] [ENSMUST00000217007]

AlphaFold

Q8VCZ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048050
AA Change: D211V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042313
Gene: ENSMUSG00000041737
AA Change: D211V

Domain	Start	End	E-Value	Type
transmembrane domain	10	27	N/A	INTRINSIC
transmembrane domain	47	69	N/A	INTRINSIC
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:DUF716	117	238	2.8e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213807

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217007
AA Change: D125V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,513,429 (GRCm38)	N506S	probably benign	Het
BC067074	A	G	13: 113,319,169 (GRCm38)	D583G	probably benign	Het
Brinp3	A	T	1: 146,901,459 (GRCm38)	H548L	possibly damaging	Het
Cacna1c	A	G	6: 118,638,446 (GRCm38)	V1328A	possibly damaging	Het
Carmil1	C	T	13: 24,155,471 (GRCm38)	V47I	probably damaging	Het
Cdk2ap2	C	A	19: 4,098,048 (GRCm38)	T76K	probably benign	Het
Col16a1	T	C	4: 130,092,771 (GRCm38)		probably benign	Het
Cxcr4	C	A	1: 128,589,625 (GRCm38)	A100S	probably damaging	Het
Fancl	G	T	11: 26,469,677 (GRCm38)	C305F	probably damaging	Het
Gcnt2	T	C	13: 40,953,579 (GRCm38)	V308A	probably benign	Het
Gm11733	A	T	11: 117,484,496 (GRCm38)	I24L	unknown	Het
Gm765	A	T	6: 98,238,276 (GRCm38)	C129S	probably damaging	Het
Gm973	A	G	1: 59,628,287 (GRCm38)		probably null	Het
Gm996	T	C	2: 25,579,702 (GRCm38)	T66A	probably benign	Het
Heatr5b	A	T	17: 78,801,660 (GRCm38)	F1057I	probably damaging	Het
Ifi213	A	T	1: 173,567,272 (GRCm38)		probably null	Het
Ighv1-20	A	T	12: 114,723,851 (GRCm38)	V91E	probably damaging	Het
Inhba	A	G	13: 16,026,786 (GRCm38)	E311G	probably damaging	Het
Irx3	G	T	8: 91,799,480 (GRCm38)		probably null	Het
Jag1	C	A	2: 137,084,995 (GRCm38)	C948F	probably damaging	Het
Kcna2	T	C	3: 107,105,309 (GRCm38)	I402T	possibly damaging	Het
Kcnh8	A	T	17: 52,977,816 (GRCm38)	Q938L	possibly damaging	Het
Lrsam1	ACC	AC	2: 32,945,858 (GRCm38)		probably null	Het
Macf1	T	C	4: 123,450,061 (GRCm38)	T2123A	probably benign	Het
Mdh1	A	T	11: 21,559,786 (GRCm38)	N196K	probably benign	Het
Msh6	G	A	17: 87,984,561 (GRCm38)	R248Q	possibly damaging	Het
Odf2l	G	T	3: 145,146,866 (GRCm38)	R457L	probably benign	Het
Olfr822	A	T	10: 130,075,029 (GRCm38)	L206F	probably damaging	Het
Pphln1	T	C	15: 93,488,975 (GRCm38)	V318A	possibly damaging	Het
Ppp1r12a	C	T	10: 108,240,112 (GRCm38)	T267I	probably damaging	Het
Pramef20	T	C	4: 144,377,157 (GRCm38)	D133G	probably benign	Het
Prpf8	A	C	11: 75,503,643 (GRCm38)	K1801N	possibly damaging	Het
Raf1	A	G	6: 115,626,706 (GRCm38)		probably null	Het
Rasal3	C	A	17: 32,396,669 (GRCm38)	L374F	probably damaging	Het
S1pr3	T	A	13: 51,419,647 (GRCm38)	V288D	probably damaging	Het
Setd7	G	A	3: 51,521,465 (GRCm38)	P315S	probably benign	Het
Slx4	C	T	16: 3,991,540 (GRCm38)	A364T	probably benign	Het
Sp7	G	A	15: 102,359,314 (GRCm38)	T19I	probably benign	Het
Tlr9	T	A	9: 106,224,313 (GRCm38)	C268S	probably damaging	Het
Tmem117	T	A	15: 95,094,513 (GRCm38)	D351E	possibly damaging	Het
Tns3	A	G	11: 8,451,092 (GRCm38)	S1069P	probably benign	Het
Tsnax	A	G	8: 125,015,762 (GRCm38)	I77V	probably benign	Het
Txndc5	G	A	13: 38,513,125 (GRCm38)	L79F	possibly damaging	Het
Ube2q1	A	G	3: 89,777,241 (GRCm38)	E14G	probably benign	Het
Vmn2r28	C	T	7: 5,487,944 (GRCm38)		probably null	Het
Vwde	A	T	6: 13,193,118 (GRCm38)	D407E	probably benign	Het
Wdr35	T	A	12: 9,016,619 (GRCm38)	M749K	probably benign	Het
Zfp109	A	T	7: 24,228,621 (GRCm38)	C462*	probably null	Het

Other mutations in Tmem45b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02269:Tmem45b	APN	9	31,427,983 (GRCm38)	nonsense	probably null
PIT4403001:Tmem45b	UTSW	9	31,426,892 (GRCm38)	missense	probably benign	0.01
R0689:Tmem45b	UTSW	9	31,428,583 (GRCm38)	missense	probably benign	0.05
R1845:Tmem45b	UTSW	9	31,431,355 (GRCm38)	missense	probably damaging	0.99
R1874:Tmem45b	UTSW	9	31,429,087 (GRCm38)	missense	probably damaging	1.00
R2147:Tmem45b	UTSW	9	31,428,981 (GRCm38)	missense	probably benign	0.01
R4584:Tmem45b	UTSW	9	31,428,655 (GRCm38)	missense	probably damaging	1.00
R5308:Tmem45b	UTSW	9	31,429,084 (GRCm38)	missense	probably damaging	0.97
R6564:Tmem45b	UTSW	9	31,428,005 (GRCm38)	missense	probably damaging	1.00
R7140:Tmem45b	UTSW	9	31,434,484 (GRCm38)	splice site	probably null
R7145:Tmem45b	UTSW	9	31,429,041 (GRCm38)	missense	probably damaging	1.00
R7154:Tmem45b	UTSW	9	31,428,032 (GRCm38)	missense	possibly damaging	0.88
R7419:Tmem45b	UTSW	9	31,428,038 (GRCm38)	missense	probably benign	0.01
Z1088:Tmem45b	UTSW	9	31,428,027 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAGACATTGGCAGTCATTTAAG -3'
(R):5'- ACGGAAGTCCTCAAGTTCAGC -3'

Sequencing Primer
(F):5'- ATTGGCAGTCATTTAAGTAATAGAGG -3'
(R):5'- AACTAAGAGCAGCTTTCCTGTGTG -3'

Posted On

2016-10-06