Mutagenetix > Incidental Mutation

Incidental Mutation 'R9286:Tmem45a2'

703945

Institutional Source

Beutler Lab

Gene Symbol

Tmem45a2

Ensembl Gene

ENSMUSG00000046748

Gene Name

transmembrane protein 45A2

Synonyms

2310005G13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56857330-56891735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56867332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 123 (I123T)

Ref Sequence

ENSEMBL: ENSMUSP00000070137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067173] [ENSMUST00000227043]

AlphaFold

B7ZWJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000067173
AA Change: I123T

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

SMART Domains

Protein: ENSMUSP00000070137
Gene: ENSMUSG00000046748
AA Change: I123T

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
transmembrane domain	108	126	N/A	INTRINSIC
Pfam:DUF716	133	255	9.1e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227043
AA Change: I123T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	G	C	15: 91,058,827 (GRCm39)	P539R	possibly damaging	Het
Adgrl3	A	T	5: 81,794,413 (GRCm39)	D478V	probably benign	Het
Adgrv1	A	T	13: 81,594,520 (GRCm39)	Y4165N	probably damaging	Het
Ago2	A	G	15: 72,997,065 (GRCm39)	L326P	probably damaging	Het
Akap6	A	C	12: 53,119,254 (GRCm39)	K1107T	possibly damaging	Het
Ank2	C	T	3: 126,846,381 (GRCm39)	A205T	probably damaging	Het
Ankrd27	T	C	7: 35,326,869 (GRCm39)	V738A	probably benign	Het
Asb1	A	G	1: 91,480,150 (GRCm39)	K291R	probably benign	Het
Cacna1e	G	T	1: 154,288,845 (GRCm39)	P1847T	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cps1	T	G	1: 67,198,030 (GRCm39)	M365R	probably damaging	Het
Ctc1	T	G	11: 68,917,180 (GRCm39)		probably null	Het
Cyp2b10	G	T	7: 25,616,391 (GRCm39)	G333C	probably damaging	Het
Cyp2d12	A	G	15: 82,443,403 (GRCm39)	E455G	probably damaging	Het
Daam2	A	T	17: 49,786,922 (GRCm39)	D539E	possibly damaging	Het
Dip2a	T	A	10: 76,138,096 (GRCm39)	Y370F	probably benign	Het
Dok5	G	A	2: 170,672,099 (GRCm39)	E134K	possibly damaging	Het
Dync2h1	C	T	9: 6,941,668 (GRCm39)	A4164T	probably benign	Het
Ecm2	A	G	13: 49,683,696 (GRCm39)	Y558C		Het
Eif3b	A	G	5: 140,411,064 (GRCm39)	I172V	probably benign	Het
Flnb	T	C	14: 7,873,414 (GRCm38)	F237L	probably damaging	Het
Gdpd4	A	G	7: 97,647,639 (GRCm39)	I429V	probably damaging	Het
Grik1	T	C	16: 87,848,315 (GRCm39)	Y151C		Het
Gys2	C	A	6: 142,376,037 (GRCm39)	V542L	possibly damaging	Het
Hmx1	A	G	5: 35,546,776 (GRCm39)	T106A	probably benign	Het
Il1rap	T	C	16: 26,517,604 (GRCm39)	V268A	possibly damaging	Het
Kansl3	T	C	1: 36,387,720 (GRCm39)	T543A	probably benign	Het
Kcnk1	T	A	8: 126,752,148 (GRCm39)		probably null	Het
Larp7	CCTTCTT	CCTT	3: 127,340,008 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,740,844 (GRCm39)	F449L	probably damaging	Het
Lmod2	A	G	6: 24,603,712 (GRCm39)	E229G	probably damaging	Het
Loxl4	A	T	19: 42,586,047 (GRCm39)	V699E	possibly damaging	Het
Miga2	A	G	2: 30,273,609 (GRCm39)	D489G	probably benign	Het
Nlrp1b	T	A	11: 71,060,573 (GRCm39)	H748L	probably benign	Het
Nudcd2	T	A	11: 40,627,403 (GRCm39)	Y108N	probably damaging	Het
Or10g1	G	A	14: 52,648,075 (GRCm39)	R85*	probably null	Het
Or52b2	A	C	7: 104,985,971 (GRCm39)	C317W	probably damaging	Het
Or5b120	T	A	19: 13,479,791 (GRCm39)	I28N	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,422 (GRCm39)	V404E	probably benign	Het
Pde4dip	T	C	3: 97,607,183 (GRCm39)	D2084G	probably damaging	Het
Phf20	A	T	2: 156,134,470 (GRCm39)	K552M	probably damaging	Het
Plcg2	A	G	8: 118,331,976 (GRCm39)	D854G	probably benign	Het
Psen1	A	G	12: 83,775,549 (GRCm39)	N316D	probably benign	Het
Rabgap1l	G	A	1: 160,051,818 (GRCm39)	Q361*	probably null	Het
Ralb	A	T	1: 119,399,544 (GRCm39)	D171E	probably benign	Het
Rev3l	T	C	10: 39,682,947 (GRCm39)	I355T	possibly damaging	Het
Rttn	A	G	18: 88,995,849 (GRCm39)	K211E	probably benign	Het
Scg2	A	G	1: 79,413,653 (GRCm39)	S357P	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc17a5	A	T	9: 78,445,566 (GRCm39)	W456R	probably damaging	Het
Slf1	A	T	13: 77,191,932 (GRCm39)	D967E	probably damaging	Het
Spryd3	A	T	15: 102,041,869 (GRCm39)	V51E	possibly damaging	Het
Tgfbi	A	G	13: 56,773,563 (GRCm39)	H187R	probably damaging	Het
Tmc3	A	G	7: 83,252,643 (GRCm39)	E348G	probably damaging	Het
Tonsl	G	A	15: 76,515,213 (GRCm39)	H1058Y	probably damaging	Het
Trav13d-1	A	G	14: 53,089,050 (GRCm39)	K20E	probably benign	Het
Trpm2	C	A	10: 77,777,014 (GRCm39)	V428L	probably benign	Het
Usp25	A	G	16: 76,904,864 (GRCm39)	Y810C	probably damaging	Het
Vmn1r40	T	A	6: 89,692,079 (GRCm39)	F299I	probably benign	Het
Vmn2r18	A	G	5: 151,499,175 (GRCm39)	F430L	probably benign	Het
Vps13c	G	A	9: 67,880,203 (GRCm39)	V3462I	probably benign	Het
Zfp955b	T	C	17: 33,521,683 (GRCm39)	I384T	probably benign	Het
Zmym4	T	C	4: 126,783,812 (GRCm39)	D1138G	probably damaging	Het

Other mutations in Tmem45a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Tmem45a2	APN	16	56,865,618 (GRCm39)	missense	probably damaging	1.00
IGL01121:Tmem45a2	APN	16	56,861,153 (GRCm39)	missense	possibly damaging	0.81
IGL01481:Tmem45a2	APN	16	56,867,375 (GRCm39)	missense	probably benign	0.00
R0230:Tmem45a2	UTSW	16	56,867,359 (GRCm39)	missense	possibly damaging	0.79
R0633:Tmem45a2	UTSW	16	56,869,777 (GRCm39)	missense	probably benign	0.03
R0850:Tmem45a2	UTSW	16	56,865,732 (GRCm39)	missense	probably benign	0.00
R1164:Tmem45a2	UTSW	16	56,869,789 (GRCm39)	missense	probably damaging	0.99
R1874:Tmem45a2	UTSW	16	56,867,447 (GRCm39)	missense	possibly damaging	0.86
R3938:Tmem45a2	UTSW	16	56,859,398 (GRCm39)	missense	probably benign
R4084:Tmem45a2	UTSW	16	56,891,387 (GRCm39)	missense	probably benign
R5309:Tmem45a2	UTSW	16	56,859,370 (GRCm39)	missense	possibly damaging	0.70
R5312:Tmem45a2	UTSW	16	56,859,370 (GRCm39)	missense	possibly damaging	0.70
R6866:Tmem45a2	UTSW	16	56,867,386 (GRCm39)	missense	probably damaging	0.97
R9055:Tmem45a2	UTSW	16	56,861,115 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- GGCATCCTACAGAGCATACC -3'
(R):5'- TGTTGCCAAAACTGTGACATG -3'

Sequencing Primer
(F):5'- AATAAGGCTGGGATACTTTGCCC -3'
(R):5'- CAGCAATGGTTGGCCAAT -3'

Posted On

2022-03-25