Mutagenetix > Incidental Mutation

Incidental Mutation 'R5589:Trim45'

501144

Institutional Source

Beutler Lab

Gene Symbol

Trim45

Ensembl Gene

ENSMUSG00000033233

Gene Name

tripartite motif-containing 45

Synonyms

4921530N01Rik

MMRRC Submission

043142-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100829518-100844236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100837257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 531 (P531L)

Ref Sequence

ENSEMBL: ENSMUSP00000115669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037409] [ENSMUST00000094048] [ENSMUST00000106980] [ENSMUST00000134993]

AlphaFold

Q6PFY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037409
AA Change: P531L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233
AA Change: P531L

Domain	Start	End	E-Value	Type
RING	29	97	5.35e-5	SMART
BBOX	130	176	1.03e-1	SMART
BBOX	186	227	4.34e-5	SMART
BBC	234	360	3.55e-9	SMART
IG_FLMN	398	500	7.63e-33	SMART
low complexity region	532	549	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094048
AA Change: P482L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091590
Gene: ENSMUSG00000033233
AA Change: P482L

Domain	Start	End	E-Value	Type
BBOX	81	127	1.03e-1	SMART
BBOX	137	178	4.34e-5	SMART
BBC	185	311	3.55e-9	SMART
IG_FLMN	349	451	7.63e-33	SMART
low complexity region	483	500	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106980
AA Change: P531L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233
AA Change: P531L

Domain	Start	End	E-Value	Type
RING	29	97	5.35e-5	SMART
BBOX	130	176	1.03e-1	SMART
BBOX	186	227	4.34e-5	SMART
BBC	234	360	3.55e-9	SMART
IG_FLMN	398	500	7.63e-33	SMART
low complexity region	532	549	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000134993
AA Change: P531L

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

SMART Domains

Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: P531L

Domain	Start	End	E-Value	Type
RING	29	97	5.35e-5	SMART
BBOX	130	176	1.03e-1	SMART
BBOX	186	227	4.34e-5	SMART
BBC	234	360	3.55e-9	SMART
IG_FLMN	398	500	7.63e-33	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,468,066 (GRCm39)	M76L	probably benign	Het
Adrm1b	T	A	3: 92,336,112 (GRCm39)		probably benign	Het
Alg1	T	A	16: 5,053,086 (GRCm39)	W116R	probably benign	Het
Ano3	A	T	2: 110,715,340 (GRCm39)	S33T	probably damaging	Het
Atp2b2	T	C	6: 113,751,400 (GRCm39)	E556G	possibly damaging	Het
Brca2	T	A	5: 150,480,597 (GRCm39)	I2761K	possibly damaging	Het
Ccdc68	G	A	18: 70,079,577 (GRCm39)	G141E	probably benign	Het
Cckbr	T	C	7: 105,083,732 (GRCm39)	V220A	probably damaging	Het
Ccnd3	G	A	17: 47,909,544 (GRCm39)	R45Q	probably damaging	Het
Cdh24	G	T	14: 54,874,832 (GRCm39)	T391N	probably damaging	Het
Cldn11	A	G	3: 31,204,395 (GRCm39)	T33A	probably damaging	Het
Clec2e	T	A	6: 129,075,391 (GRCm39)	Y50F	probably benign	Het
Cntnap1	A	G	11: 101,075,944 (GRCm39)	N943D	probably benign	Het
Cspg4b	A	G	13: 113,454,484 (GRCm39)	R177G	possibly damaging	Het
Dmgdh	T	C	13: 93,813,665 (GRCm39)	V70A	probably damaging	Het
Gm14496	C	A	2: 181,637,674 (GRCm39)	Y249*	probably null	Het
Gmnc	T	A	16: 26,781,714 (GRCm39)	H105L	probably damaging	Het
Gpt2	A	G	8: 86,219,740 (GRCm39)	Y62C	probably damaging	Het
Ift80	T	C	3: 68,838,233 (GRCm39)	R413G	probably damaging	Het
Kctd16	C	A	18: 40,392,061 (GRCm39)	D216E	probably damaging	Het
Kif26b	T	C	1: 178,743,864 (GRCm39)	V873A	probably benign	Het
Klra4	G	T	6: 130,039,117 (GRCm39)	Q92K	probably benign	Het
L1td1	C	A	4: 98,626,341 (GRCm39)	N845K	possibly damaging	Het
Lama3	C	T	18: 12,605,277 (GRCm39)	T1077I	possibly damaging	Het
Loxhd1	T	C	18: 77,429,751 (GRCm39)	I230T	possibly damaging	Het
Lsg1	T	C	16: 30,399,819 (GRCm39)	N160S	probably damaging	Het
Lyzl4	G	A	9: 121,413,469 (GRCm39)	R24C	probably damaging	Het
Mib1	A	G	18: 10,794,488 (GRCm39)	N658S	probably benign	Het
Mmp8	T	C	9: 7,566,275 (GRCm39)	I377T	probably damaging	Het
Mtmr14	T	C	6: 113,238,243 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,548,414 (GRCm39)	T58A	possibly damaging	Het
Myo9a	C	T	9: 59,802,527 (GRCm39)	Q2005*	probably null	Het
Neu3	G	T	7: 99,472,636 (GRCm39)	P34T	probably benign	Het
Nlrp4b	G	A	7: 10,449,512 (GRCm39)	V205I	probably benign	Het
Or4b1b	C	T	2: 90,112,313 (GRCm39)	G202D	probably damaging	Het
Or4k38	T	C	2: 111,165,850 (GRCm39)	N191S	possibly damaging	Het
Or5h23	A	T	16: 58,906,334 (GRCm39)	S171T	probably benign	Het
Or5t15	A	G	2: 86,681,118 (GRCm39)	I308T	unknown	Het
Or6c66	T	G	10: 129,461,319 (GRCm39)	T204P	probably damaging	Het
Or9m1	T	C	2: 87,733,691 (GRCm39)	T110A	probably benign	Het
Pcsk6	T	C	7: 65,578,933 (GRCm39)		probably null	Het
Pik3c2a	A	G	7: 116,016,893 (GRCm39)	V288A	probably benign	Het
Plcd3	T	C	11: 102,968,629 (GRCm39)	D354G	probably benign	Het
Prkdc	C	A	16: 15,524,655 (GRCm39)	N1219K	probably benign	Het
Prl3d1	T	A	13: 27,278,927 (GRCm39)	Y41N	probably damaging	Het
Qrich2	C	T	11: 116,332,234 (GRCm39)	G2321R	probably damaging	Het
Rrbp1	T	C	2: 143,831,886 (GRCm39)	I94V	probably benign	Het
Serinc1	C	A	10: 57,399,262 (GRCm39)	V214L	probably benign	Het
Serpina9	G	T	12: 103,967,728 (GRCm39)	N222K	probably benign	Het
Smchd1	A	G	17: 71,747,956 (GRCm39)	Y429H	probably damaging	Het
Smyd1	C	T	6: 71,239,164 (GRCm39)	V9M	probably damaging	Het
Sostdc1	C	T	12: 36,367,246 (GRCm39)	Q141*	probably null	Het
Spam1	C	T	6: 24,796,109 (GRCm39)	T20I	probably benign	Het
Tex47	T	C	5: 7,354,834 (GRCm39)	V5A	probably benign	Het
Thbs4	T	C	13: 92,912,582 (GRCm39)		probably null	Het
Tshb	A	T	3: 102,685,478 (GRCm39)	Y50*	probably null	Het
Ttn	T	C	2: 76,599,320 (GRCm39)	I19230V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba6	G	A	5: 86,270,288 (GRCm39)	T832I	probably damaging	Het
Unc13d	A	T	11: 115,960,579 (GRCm39)	V497D	probably damaging	Het
Usp13	T	C	3: 32,892,007 (GRCm39)	V62A	probably damaging	Het
Vmn1r215	A	C	13: 23,260,189 (GRCm39)	L76F	probably damaging	Het
Vmn1r215	G	T	13: 23,260,190 (GRCm39)	G77C	probably damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zbtb40	T	C	4: 136,722,594 (GRCm39)	D828G	probably damaging	Het
Zfp74	A	T	7: 29,633,990 (GRCm39)	C573S	probably damaging	Het

Other mutations in Trim45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Trim45	APN	3	100,839,042 (GRCm39)	intron	probably benign
IGL01472:Trim45	APN	3	100,835,381 (GRCm39)	missense	probably benign	0.00
IGL01996:Trim45	APN	3	100,835,425 (GRCm39)	nonsense	probably null	0.00
IGL02392:Trim45	APN	3	100,832,621 (GRCm39)	missense	probably benign	0.04
IGL03229:Trim45	APN	3	100,830,385 (GRCm39)	missense	probably damaging	1.00
IGL02837:Trim45	UTSW	3	100,838,943 (GRCm39)	intron	probably benign
R0021:Trim45	UTSW	3	100,832,736 (GRCm39)	missense	probably damaging	1.00
R0243:Trim45	UTSW	3	100,837,160 (GRCm39)	missense	probably benign	0.05
R0501:Trim45	UTSW	3	100,830,535 (GRCm39)	missense	probably damaging	1.00
R1222:Trim45	UTSW	3	100,834,614 (GRCm39)	missense	probably benign	0.14
R1418:Trim45	UTSW	3	100,834,614 (GRCm39)	missense	probably benign	0.14
R1813:Trim45	UTSW	3	100,830,283 (GRCm39)	missense	probably benign	0.16
R2148:Trim45	UTSW	3	100,839,360 (GRCm39)	nonsense	probably null
R2383:Trim45	UTSW	3	100,832,543 (GRCm39)	missense	probably damaging	0.97
R4368:Trim45	UTSW	3	100,830,502 (GRCm39)	missense	probably damaging	1.00
R4769:Trim45	UTSW	3	100,839,050 (GRCm39)	intron	probably benign
R4840:Trim45	UTSW	3	100,832,804 (GRCm39)	missense	possibly damaging	0.95
R5030:Trim45	UTSW	3	100,835,388 (GRCm39)	missense	probably damaging	1.00
R5272:Trim45	UTSW	3	100,837,235 (GRCm39)	missense	probably damaging	1.00
R5298:Trim45	UTSW	3	100,832,787 (GRCm39)	missense	probably damaging	1.00
R5498:Trim45	UTSW	3	100,832,457 (GRCm39)	missense	possibly damaging	0.67
R6537:Trim45	UTSW	3	100,832,712 (GRCm39)	missense	probably benign	0.39
R6850:Trim45	UTSW	3	100,830,541 (GRCm39)	nonsense	probably null
R7009:Trim45	UTSW	3	100,839,195 (GRCm39)	intron	probably benign
R7122:Trim45	UTSW	3	100,839,353 (GRCm39)	missense	unknown
R7583:Trim45	UTSW	3	100,832,339 (GRCm39)	missense	probably damaging	1.00
R8358:Trim45	UTSW	3	100,834,634 (GRCm39)	missense	probably damaging	0.98
R8368:Trim45	UTSW	3	100,830,672 (GRCm39)	missense	possibly damaging	0.61
R8924:Trim45	UTSW	3	100,835,394 (GRCm39)	missense	probably damaging	1.00
R8998:Trim45	UTSW	3	100,838,960 (GRCm39)	missense	unknown
R8999:Trim45	UTSW	3	100,838,960 (GRCm39)	missense	unknown
R9069:Trim45	UTSW	3	100,832,440 (GRCm39)	nonsense	probably null
R9368:Trim45	UTSW	3	100,832,319 (GRCm39)	missense	possibly damaging	0.51
R9594:Trim45	UTSW	3	100,830,265 (GRCm39)	missense	probably benign	0.00
R9634:Trim45	UTSW	3	100,839,306 (GRCm39)	missense	unknown
R9651:Trim45	UTSW	3	100,832,705 (GRCm39)	nonsense	probably null
X0066:Trim45	UTSW	3	100,839,083 (GRCm39)	intron	probably benign
Z1088:Trim45	UTSW	3	100,832,956 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CGTCCTTGTGACTTTGAGCC -3'
(R):5'- GAATTCTTTGAGAAAAGCCTCAGTC -3'

Sequencing Primer
(F):5'- TGCCTACCATGCACTGATGG -3'
(R):5'- TCTTTGAGAAAAGCCTCAGTCCAAAC -3'

Posted On

2017-12-01