Mutagenetix > Incidental Mutation

Incidental Mutation 'R1497:Trim66'

168958

Institutional Source

Beutler Lab

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

MMRRC Submission

039548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R1497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109484619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 141 (P141L)

Ref Sequence

ENSEMBL: ENSMUSP00000102352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033339] [ENSMUST00000106739] [ENSMUST00000106741]

AlphaFold

Q924W6

Predicted Effect

probably benign
Transcript: ENSMUST00000033339
AA Change: P39L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: P39L

Domain	Start	End	E-Value	Type
PHD	4	69	7.77e0	SMART
BBC	108	234	1.61e-39	SMART
low complexity region	318	333	N/A	INTRINSIC
low complexity region	452	486	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
PHD	998	1041	4.09e-10	SMART
BROMO	1069	1175	8.22e-27	SMART
low complexity region	1185	1199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106739
AA Change: P39L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: P39L

Domain	Start	End	E-Value	Type
PHD	4	69	7.77e0	SMART
BBC	108	234	1.61e-39	SMART
low complexity region	318	333	N/A	INTRINSIC
low complexity region	452	486	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
PHD	998	1041	4.09e-10	SMART
BROMO	1069	1175	8.22e-27	SMART
low complexity region	1185	1199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106741
AA Change: P141L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: P141L

Domain	Start	End	E-Value	Type
RING	28	78	2.38e-2	SMART
BBOX	102	140	1.48e0	SMART
PHD	106	171	7.77e0	SMART
RING	107	170	4.38e0	SMART
BBOX	162	203	4.21e-3	SMART
BBC	210	336	1.61e-39	SMART
low complexity region	420	435	N/A	INTRINSIC
low complexity region	554	588	N/A	INTRINSIC
low complexity region	619	632	N/A	INTRINSIC
low complexity region	670	683	N/A	INTRINSIC
PHD	1100	1143	4.09e-10	SMART
BROMO	1171	1277	8.22e-27	SMART
low complexity region	1287	1301	N/A	INTRINSIC

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.4%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,973,821 (GRCm38)		probably benign	Het
Abhd17a	A	G	10: 80,584,330 (GRCm38)		probably benign	Het
Acacb	G	A	5: 114,196,807 (GRCm38)	E646K	probably damaging	Het
Afap1l2	T	C	19: 56,928,311 (GRCm38)	M262V	probably benign	Het
Anapc7	T	A	5: 122,435,515 (GRCm38)		probably benign	Het
Car5b	T	A	X: 163,988,404 (GRCm38)	K188N	probably benign	Het
Caskin1	C	T	17: 24,504,541 (GRCm38)	R768*	probably null	Het
Casp8ap2	T	C	4: 32,639,938 (GRCm38)	S331P	probably benign	Het
Ccdc68	C	T	18: 69,960,514 (GRCm38)		probably benign	Het
Cd44	A	T	2: 102,842,955 (GRCm38)		probably null	Het
Celsr3	A	G	9: 108,848,865 (GRCm38)	S3090G	probably benign	Het
Clasp1	A	T	1: 118,552,058 (GRCm38)	M1023L	probably benign	Het
Clec16a	T	C	16: 10,635,259 (GRCm38)	F608S	probably damaging	Het
Col7a1	A	C	9: 108,978,825 (GRCm38)	E2531A	unknown	Het
Ctc1	T	A	11: 69,022,561 (GRCm38)	C128S	probably benign	Het
Cyp2d41-ps	T	C	15: 82,782,022 (GRCm38)		noncoding transcript	Het
Cyp2j6	T	A	4: 96,531,661 (GRCm38)	I278F	probably damaging	Het
Dhtkd1	A	T	2: 5,904,113 (GRCm38)	S723R	probably damaging	Het
Dhx8	A	G	11: 101,735,387 (GRCm38)		probably benign	Het
Dnah17	A	T	11: 118,114,233 (GRCm38)	L775Q	probably damaging	Het
Dnah8	C	A	17: 30,752,075 (GRCm38)	T2701K	probably damaging	Het
Eml3	T	A	19: 8,936,369 (GRCm38)	S424R	probably damaging	Het
Epm2aip1	A	G	9: 111,272,247 (GRCm38)	E96G	possibly damaging	Het
Ezr	T	C	17: 6,742,708 (GRCm38)	H314R	probably benign	Het
Fam193b	G	T	13: 55,554,434 (GRCm38)	H43Q	probably damaging	Het
Fam208b	T	C	13: 3,570,409 (GRCm38)	E2164G	probably damaging	Het
Fam217a	T	A	13: 34,911,212 (GRCm38)	N340I	probably damaging	Het
Fcrl1	A	T	3: 87,384,802 (GRCm38)	Q89H	probably damaging	Het
Flg2	A	T	3: 93,219,769 (GRCm38)	H1996L	unknown	Het
Gabpb1	C	T	2: 126,639,249 (GRCm38)	V327M	possibly damaging	Het
Gtf3c3	A	G	1: 54,437,939 (GRCm38)	V36A	probably benign	Het
Hspg2	A	G	4: 137,548,096 (GRCm38)	N2739S	probably damaging	Het
Hyal1	A	G	9: 107,577,995 (GRCm38)		probably null	Het
Ipo13	T	C	4: 117,904,659 (GRCm38)	D448G	probably benign	Het
Kcnq5	T	C	1: 21,402,386 (GRCm38)	D860G	possibly damaging	Het
Kif13b	A	G	14: 64,736,266 (GRCm38)	N355S	probably damaging	Het
Kmt2c	T	A	5: 25,314,515 (GRCm38)	H2199L	possibly damaging	Het
Magi1	A	G	6: 93,747,329 (GRCm38)	F235S	probably damaging	Het
Maml1	A	C	11: 50,265,707 (GRCm38)	M547R	possibly damaging	Het
Mapk7	T	C	11: 61,493,863 (GRCm38)	K6E	possibly damaging	Het
Mbd5	T	A	2: 49,257,381 (GRCm38)	N534K	possibly damaging	Het
Mcat	G	A	15: 83,549,252 (GRCm38)	Q34*	probably null	Het
Mcu	T	A	10: 59,448,848 (GRCm38)	D180V	probably damaging	Het
Mettl21c	G	T	1: 44,009,791 (GRCm38)	P199T	probably benign	Het
Mndal	A	T	1: 173,872,875 (GRCm38)	S177T	probably benign	Het
Mpeg1	G	T	19: 12,461,247 (GRCm38)	C23F	probably benign	Het
Mup15	T	A	4: 61,438,234 (GRCm38)	Y98F	probably benign	Het
Myh8	T	C	11: 67,289,812 (GRCm38)	S625P	probably benign	Het
Nipsnap2	T	C	5: 129,753,218 (GRCm38)		probably benign	Het
Nlrp4e	T	C	7: 23,320,372 (GRCm38)	S95P	probably benign	Het
Olfr1196	T	C	2: 88,700,762 (GRCm38)	D189G	probably damaging	Het
Olfr378	T	A	11: 73,425,827 (GRCm38)	D52V	possibly damaging	Het
Otop2	A	G	11: 115,329,849 (GRCm38)		probably null	Het
Pcnx4	G	C	12: 72,574,400 (GRCm38)	G998A	probably benign	Het
Pnkd	C	A	1: 74,351,522 (GRCm38)		probably null	Het
Ppp4r4	T	A	12: 103,606,945 (GRCm38)	V701E	probably benign	Het
Ryr2	A	G	13: 11,601,841 (GRCm38)	I3897T	probably damaging	Het
Scn1a	T	C	2: 66,332,287 (GRCm38)	E205G	probably damaging	Het
Sdk2	G	A	11: 113,893,575 (GRCm38)		probably benign	Het
Serpinb5	A	T	1: 106,876,052 (GRCm38)	Q156L	probably benign	Het
Setdb1	A	T	3: 95,327,467 (GRCm38)	V975D	probably benign	Het
Shc1	A	G	3: 89,428,445 (GRCm38)	*470W	probably null	Het
Sik3	C	A	9: 46,221,089 (GRCm38)	H1276Q	probably benign	Het
Sik3	T	A	9: 46,202,022 (GRCm38)	V587E	probably damaging	Het
Spata7	T	C	12: 98,668,861 (GRCm38)	I384T	probably damaging	Het
Tanc2	T	A	11: 105,922,137 (GRCm38)	V1469D	probably benign	Het
Tdrd5	A	T	1: 156,255,802 (GRCm38)	N888K	probably benign	Het
Tex22	T	C	12: 113,075,380 (GRCm38)	S34P	probably benign	Het
Tmed6	T	C	8: 107,064,122 (GRCm38)	T98A	probably benign	Het
Trpa1	T	C	1: 14,885,812 (GRCm38)	I778V	probably benign	Het
Urb2	T	A	8: 124,028,077 (GRCm38)	H174Q	probably damaging	Het
Usb1	T	C	8: 95,338,697 (GRCm38)	V59A	probably benign	Het
Vmn1r11	T	A	6: 57,137,409 (GRCm38)	N19K	probably damaging	Het
Vmn1r185	A	T	7: 26,611,794 (GRCm38)	F95L	probably benign	Het
Vmn1r206	C	T	13: 22,620,990 (GRCm38)	V16M	probably benign	Het
Vmn2r92	T	C	17: 18,167,363 (GRCm38)	V210A	probably benign	Het
Wdr17	A	T	8: 54,672,501 (GRCm38)	I448K	possibly damaging	Het
Zfp768	T	A	7: 127,343,561 (GRCm38)	Q465L	probably damaging	Het
Zfp804b	T	A	5: 6,771,105 (GRCm38)	N617Y	probably damaging	Het

Other mutations in Trim66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01539:Trim66	APN	7	109,455,066 (GRCm38)	missense	probably benign	0.02
IGL01758:Trim66	APN	7	109,486,045 (GRCm38)	critical splice donor site	probably null
IGL01982:Trim66	APN	7	109,458,763 (GRCm38)	missense	probably benign	0.00
IGL01983:Trim66	APN	7	109,458,251 (GRCm38)	nonsense	probably null
IGL02149:Trim66	APN	7	109,460,902 (GRCm38)	missense	possibly damaging	0.66
IGL02392:Trim66	APN	7	109,460,274 (GRCm38)	missense	probably benign	0.01
IGL02483:Trim66	APN	7	109,477,630 (GRCm38)	splice site	probably benign
IGL02832:Trim66	APN	7	109,460,497 (GRCm38)	missense	probably damaging	1.00
IGL02945:Trim66	APN	7	109,460,176 (GRCm38)	nonsense	probably null
IGL03085:Trim66	APN	7	109,458,745 (GRCm38)	missense	probably benign	0.17
PIT1430001:Trim66	UTSW	7	109,475,247 (GRCm38)	missense	probably damaging	0.99
R0326:Trim66	UTSW	7	109,460,172 (GRCm38)	missense	probably benign	0.00
R0358:Trim66	UTSW	7	109,460,176 (GRCm38)	nonsense	probably null
R0401:Trim66	UTSW	7	109,475,264 (GRCm38)	missense	probably damaging	0.98
R0470:Trim66	UTSW	7	109,457,542 (GRCm38)	splice site	probably benign
R0568:Trim66	UTSW	7	109,460,695 (GRCm38)	missense	probably benign	0.00
R0669:Trim66	UTSW	7	109,454,992 (GRCm38)	intron	probably benign
R0980:Trim66	UTSW	7	109,455,670 (GRCm38)	missense	probably damaging	1.00
R1015:Trim66	UTSW	7	109,455,233 (GRCm38)	missense	probably damaging	1.00
R1078:Trim66	UTSW	7	109,472,319 (GRCm38)	missense	probably damaging	1.00
R1099:Trim66	UTSW	7	109,475,454 (GRCm38)	missense	probably benign	0.34
R1181:Trim66	UTSW	7	109,484,577 (GRCm38)	critical splice donor site	probably null
R1583:Trim66	UTSW	7	109,455,080 (GRCm38)	missense	probably damaging	1.00
R1843:Trim66	UTSW	7	109,475,839 (GRCm38)	missense	probably damaging	0.99
R1998:Trim66	UTSW	7	109,484,577 (GRCm38)	critical splice donor site	probably null
R2016:Trim66	UTSW	7	109,472,232 (GRCm38)	critical splice donor site	probably null
R2143:Trim66	UTSW	7	109,475,113 (GRCm38)	missense	probably damaging	0.98
R2144:Trim66	UTSW	7	109,475,113 (GRCm38)	missense	probably damaging	0.98
R2145:Trim66	UTSW	7	109,475,113 (GRCm38)	missense	probably damaging	0.98
R3945:Trim66	UTSW	7	109,472,268 (GRCm38)	missense	possibly damaging	0.94
R4012:Trim66	UTSW	7	109,458,131 (GRCm38)	missense	probably damaging	0.98
R4464:Trim66	UTSW	7	109,477,690 (GRCm38)	missense	possibly damaging	0.51
R4473:Trim66	UTSW	7	109,481,995 (GRCm38)	missense	probably damaging	1.00
R4729:Trim66	UTSW	7	109,456,060 (GRCm38)	critical splice donor site	probably null
R4730:Trim66	UTSW	7	109,483,069 (GRCm38)	missense	probably damaging	1.00
R4775:Trim66	UTSW	7	109,457,589 (GRCm38)	nonsense	probably null
R4819:Trim66	UTSW	7	109,457,586 (GRCm38)	missense	probably damaging	1.00
R5269:Trim66	UTSW	7	109,457,590 (GRCm38)	missense	probably benign	0.00
R5557:Trim66	UTSW	7	109,483,737 (GRCm38)	missense	probably benign	0.06
R5832:Trim66	UTSW	7	109,455,202 (GRCm38)	missense	probably damaging	1.00
R6220:Trim66	UTSW	7	109,483,093 (GRCm38)	missense	probably damaging	0.97
R6243:Trim66	UTSW	7	109,460,274 (GRCm38)	missense	probably benign	0.01
R6374:Trim66	UTSW	7	109,486,062 (GRCm38)	missense	probably benign
R6450:Trim66	UTSW	7	109,460,738 (GRCm38)	missense	probably benign	0.09
R6543:Trim66	UTSW	7	109,475,879 (GRCm38)	missense	probably benign	0.01
R6788:Trim66	UTSW	7	109,477,754 (GRCm38)	missense	probably damaging	1.00
R6842:Trim66	UTSW	7	109,460,776 (GRCm38)	missense	probably benign	0.00
R7169:Trim66	UTSW	7	109,455,121 (GRCm38)	missense	probably benign	0.25
R7257:Trim66	UTSW	7	109,460,244 (GRCm38)	missense	probably damaging	1.00
R7328:Trim66	UTSW	7	109,457,751 (GRCm38)	missense	probably damaging	0.99
R7616:Trim66	UTSW	7	109,483,749 (GRCm38)	missense	probably damaging	0.99
R8423:Trim66	UTSW	7	109,475,392 (GRCm38)	missense	possibly damaging	0.77
R8855:Trim66	UTSW	7	109,481,981 (GRCm38)	missense	probably damaging	1.00
R9130:Trim66	UTSW	7	109,477,689 (GRCm38)	missense	possibly damaging	0.90
R9137:Trim66	UTSW	7	109,475,123 (GRCm38)	missense	probably damaging	0.99
R9640:Trim66	UTSW	7	109,475,618 (GRCm38)	missense	probably damaging	1.00
RF013:Trim66	UTSW	7	109,460,753 (GRCm38)	missense	probably damaging	0.99
RF024:Trim66	UTSW	7	109,460,740 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GGCCTAGCTTCTGTGATTCAAGACC -3'
(R):5'- TGCTGCATACAGATGCAAGCCC -3'

Sequencing Primer
(F):5'- CTCTGACTCTGAGGAAGGCATTC -3'
(R):5'- CCAGCGGTGAGATGGTC -3'

Posted On

2014-04-13