Mutagenetix > Incidental Mutation

Incidental Mutation 'R1988:Trim5'

222847

Institutional Source

Beutler Lab

Gene Symbol

Trim5

Ensembl Gene

ENSMUSG00000060441

Gene Name

tripartite motif-containing 5

Synonyms

MMRRC Submission

040000-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1988 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103912593-103937301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103914828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 414 (S414P)

Ref Sequence

ENSEMBL: ENSMUSP00000095781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051795] [ENSMUST00000060315] [ENSMUST00000098179] [ENSMUST00000106848] [ENSMUST00000106849]

AlphaFold

E9PV98

Predicted Effect

probably damaging
Transcript: ENSMUST00000051795
AA Change: S405P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050084
Gene: ENSMUSG00000060441
AA Change: S405P

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
coiled coil region	172	232	N/A	INTRINSIC
Pfam:SPRY	349	485	9.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060315

SMART Domains

Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	347	474	1e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098179
AA Change: S414P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095781
Gene: ENSMUSG00000060441
AA Change: S414P

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
Pfam:SPRY	351	493	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106848

SMART Domains

Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	345	484	6.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106849

SMART Domains

Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	345	484	6.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217156

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
2610021A01Rik	C	T	7: 41,276,081 (GRCm39)	R595*	probably null	Het
Adgrl3	A	G	5: 81,836,414 (GRCm39)	D724G	probably damaging	Het
Akap6	T	C	12: 53,187,578 (GRCm39)	F1664S	possibly damaging	Het
Akt1	T	C	12: 112,621,585 (GRCm39)	I404V	probably benign	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Atoh1	T	C	6: 64,706,617 (GRCm39)	V104A	probably benign	Het
Brwd1	T	C	16: 95,822,437 (GRCm39)	D1256G	probably damaging	Het
C9	ATTTT	ATTT	15: 6,512,619 (GRCm39)		probably null	Het
Cd164	A	G	10: 41,399,177 (GRCm39)	T89A	probably benign	Het
Cep350	G	C	1: 155,808,850 (GRCm39)	N575K	possibly damaging	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cnot1	A	G	8: 96,468,572 (GRCm39)	V1417A	possibly damaging	Het
Cntnap3	T	C	13: 64,906,204 (GRCm39)	T801A	probably damaging	Het
Cntnap5b	A	C	1: 99,999,865 (GRCm39)	K208Q	possibly damaging	Het
Crx	A	T	7: 15,603,272 (GRCm39)	V107D	possibly damaging	Het
Csrnp2	A	G	15: 100,387,321 (GRCm39)	F49S	probably damaging	Het
Ctbp1	A	G	5: 33,408,248 (GRCm39)	L228P	possibly damaging	Het
Ctdp1	A	T	18: 80,492,616 (GRCm39)	D626E	possibly damaging	Het
Cyp1a2	T	C	9: 57,589,569 (GRCm39)	T82A	possibly damaging	Het
Dnah3	T	A	7: 119,566,793 (GRCm39)	T2478S	possibly damaging	Het
Dnah3	T	G	7: 119,567,182 (GRCm39)	D2348A	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
Dnah6	A	G	6: 73,069,175 (GRCm39)	I2504T	probably damaging	Het
Dnase1l2	A	C	17: 24,660,625 (GRCm39)	W138G	probably damaging	Het
Dop1b	T	A	16: 93,563,061 (GRCm39)	I855N	probably damaging	Het
Dsc3	T	A	18: 20,098,903 (GRCm39)	N759Y	possibly damaging	Het
Dtx2	C	T	5: 136,061,147 (GRCm39)	R510*	probably null	Het
Fat4	G	T	3: 38,941,264 (GRCm39)	M52I	probably benign	Het
Fat4	G	A	3: 39,050,239 (GRCm39)	E4034K	probably damaging	Het
Fezf2	T	C	14: 12,344,350 (GRCm38)	K279R	probably damaging	Het
Fsip2	G	T	2: 82,806,861 (GRCm39)	W1060L	possibly damaging	Het
G6pc1	T	A	11: 101,258,768 (GRCm39)	I49N	probably damaging	Het
Gars1	A	G	6: 55,054,757 (GRCm39)	E688G	probably null	Het
Gdf11	T	C	10: 128,721,111 (GRCm39)	N361S	probably benign	Het
Gli3	A	C	13: 15,900,965 (GRCm39)	M1451L	probably benign	Het
Heatr3	T	C	8: 88,876,945 (GRCm39)	I329T	probably benign	Het
Herc3	T	G	6: 58,861,960 (GRCm39)		probably null	Het
Hrnr	A	G	3: 93,239,911 (GRCm39)	N3383S	unknown	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Kif21b	C	T	1: 136,080,002 (GRCm39)	R513W	probably damaging	Het
Kif7	G	T	7: 79,348,989 (GRCm39)	H1195Q	probably benign	Het
Lpcat4	T	C	2: 112,072,887 (GRCm39)	V182A	possibly damaging	Het
Map3k21	T	A	8: 126,654,294 (GRCm39)	I371N	probably benign	Het
Mns1	G	A	9: 72,356,041 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,140 (GRCm39)	T465A	possibly damaging	Het
Nlrc4	A	T	17: 74,733,938 (GRCm39)	S992T	probably benign	Het
Notch4	G	A	17: 34,806,562 (GRCm39)	G1833E	possibly damaging	Het
Or52ad1	T	A	7: 102,995,316 (GRCm39)	Y273F	possibly damaging	Het
Or52n2	T	C	7: 104,542,110 (GRCm39)	T242A	probably damaging	Het
Or5g29	G	A	2: 85,420,985 (GRCm39)	V34I	probably benign	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8a1b	A	T	9: 37,622,993 (GRCm39)	I194K	possibly damaging	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pik3cd	T	A	4: 149,747,660 (GRCm39)	T28S	probably damaging	Het
Pkd1	G	T	17: 24,795,566 (GRCm39)		probably null	Het
Plk4	A	T	3: 40,760,252 (GRCm39)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,326,297 (GRCm39)	L77P	probably damaging	Het
Ppm1f	T	C	16: 16,741,530 (GRCm39)	S335P	probably damaging	Het
Prr16	C	T	18: 51,436,349 (GRCm39)	P276L	probably damaging	Het
Rilp	A	G	11: 75,401,759 (GRCm39)		probably null	Het
Rspry1	A	G	8: 95,358,682 (GRCm39)		probably null	Het
Serpinb9b	T	C	13: 33,213,542 (GRCm39)	V33A	probably benign	Het
Slc4a10	C	A	2: 62,098,548 (GRCm39)	Q561K	probably damaging	Het
Smyd5	T	C	6: 85,415,118 (GRCm39)	I42T	possibly damaging	Het
Stk17b	T	C	1: 53,800,241 (GRCm39)	N246D	probably damaging	Het
Suco	T	C	1: 161,646,380 (GRCm39)		probably null	Het
Tecpr1	C	T	5: 144,141,515 (GRCm39)	V785M	possibly damaging	Het
Telo2	C	T	17: 25,320,642 (GRCm39)	V756I	probably benign	Het
Tgm1	C	T	14: 55,943,034 (GRCm39)	R602H	probably benign	Het
Timeless	A	G	10: 128,080,056 (GRCm39)	T402A	probably damaging	Het
Tnfaip2	T	A	12: 111,416,325 (GRCm39)		probably null	Het
Trgc3	C	A	13: 19,445,164 (GRCm39)	F37L	probably damaging	Het
Txnip	A	G	3: 96,467,066 (GRCm39)	T247A	possibly damaging	Het
Vmn1r174	A	T	7: 23,454,050 (GRCm39)	T239S	probably damaging	Het
Vmn1r231	T	A	17: 21,110,212 (GRCm39)	E234D	probably damaging	Het
Zranb3	A	T	1: 127,887,480 (GRCm39)	N982K	probably benign	Het

Other mutations in Trim5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01702:Trim5	APN	7	103,928,638 (GRCm39)	missense	probably damaging	1.00
IGL02165:Trim5	APN	7	103,928,566 (GRCm39)	missense	probably damaging	1.00
IGL02576:Trim5	APN	7	103,927,624 (GRCm39)	missense	probably damaging	0.97
IGL02660:Trim5	APN	7	103,915,425 (GRCm39)	missense	probably damaging	0.96
IGL02732:Trim5	APN	7	103,927,672 (GRCm39)	missense	probably benign	0.02
R0278:Trim5	UTSW	7	103,928,882 (GRCm39)	missense	probably benign	0.00
R0373:Trim5	UTSW	7	103,914,891 (GRCm39)	missense	probably benign	0.00
R0508:Trim5	UTSW	7	103,914,811 (GRCm39)	missense	probably null	0.98
R0840:Trim5	UTSW	7	103,914,978 (GRCm39)	missense	probably damaging	1.00
R0947:Trim5	UTSW	7	103,914,958 (GRCm39)	missense	probably damaging	1.00
R1432:Trim5	UTSW	7	103,928,728 (GRCm39)	missense	probably benign
R1432:Trim5	UTSW	7	103,928,726 (GRCm39)	missense	probably benign	0.04
R1770:Trim5	UTSW	7	103,925,868 (GRCm39)	missense	probably damaging	1.00
R1782:Trim5	UTSW	7	103,915,023 (GRCm39)	splice site	probably null
R2140:Trim5	UTSW	7	103,925,998 (GRCm39)	nonsense	probably null
R3110:Trim5	UTSW	7	103,928,845 (GRCm39)	missense	probably damaging	1.00
R3112:Trim5	UTSW	7	103,928,845 (GRCm39)	missense	probably damaging	1.00
R3893:Trim5	UTSW	7	103,926,042 (GRCm39)	missense	probably damaging	0.98
R3948:Trim5	UTSW	7	103,915,727 (GRCm39)	nonsense	probably null
R4114:Trim5	UTSW	7	103,914,947 (GRCm39)	missense	probably damaging	0.99
R4249:Trim5	UTSW	7	103,926,022 (GRCm39)	missense	possibly damaging	0.83
R4352:Trim5	UTSW	7	103,926,015 (GRCm39)	missense	probably damaging	1.00
R4595:Trim5	UTSW	7	103,914,639 (GRCm39)	missense	probably damaging	1.00
R5057:Trim5	UTSW	7	103,914,630 (GRCm39)	missense	probably damaging	1.00
R5583:Trim5	UTSW	7	103,926,042 (GRCm39)	missense	probably damaging	0.98
R5861:Trim5	UTSW	7	103,928,728 (GRCm39)	missense	probably benign
R5861:Trim5	UTSW	7	103,928,726 (GRCm39)	missense	probably benign	0.04
R7027:Trim5	UTSW	7	103,914,875 (GRCm39)	missense	probably benign	0.00
R7078:Trim5	UTSW	7	103,927,681 (GRCm39)	missense	possibly damaging	0.85
R7150:Trim5	UTSW	7	103,926,017 (GRCm39)	missense	probably damaging	0.96
R7657:Trim5	UTSW	7	103,925,884 (GRCm39)	missense	possibly damaging	0.51
R7660:Trim5	UTSW	7	103,928,569 (GRCm39)	missense	probably damaging	1.00
R7737:Trim5	UTSW	7	103,928,771 (GRCm39)	missense	probably damaging	1.00
R7821:Trim5	UTSW	7	103,927,633 (GRCm39)	missense	probably benign	0.32
R7861:Trim5	UTSW	7	103,915,675 (GRCm39)	critical splice donor site	probably null
R8167:Trim5	UTSW	7	103,927,630 (GRCm39)	missense	probably damaging	0.99
R8220:Trim5	UTSW	7	103,926,033 (GRCm39)	missense	probably damaging	0.96
R8296:Trim5	UTSW	7	103,914,993 (GRCm39)	missense	probably damaging	1.00
R8555:Trim5	UTSW	7	103,927,330 (GRCm39)	splice site	probably null
Z1088:Trim5	UTSW	7	103,915,432 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CCCTATCAGGAAAGGAAGCTG -3'
(R):5'- TGGGACATCCAGCTATCCAATC -3'

Sequencing Primer
(F):5'- TGTGCAGAATCTGTAGATAAGAGTCC -3'
(R):5'- CCAATCTGGAAAACATTACTGGG -3'

Posted On

2014-08-25