Mutagenetix > Incidental Mutation

Incidental Mutation 'R0386:Trp53bp1'

65504

Institutional Source

Beutler Lab

Gene Symbol

Trp53bp1

Ensembl Gene

ENSMUSG00000043909

Gene Name

transformation related protein 53 binding protein 1

Synonyms

53BP1, p53BP1

MMRRC Submission

038592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0386 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

121023762-121101888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121035424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1609 (T1609K)

Ref Sequence

ENSEMBL: ENSMUSP00000106278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110647] [ENSMUST00000110648] [ENSMUST00000154426]

AlphaFold

P70399

Predicted Effect

probably damaging
Transcript: ENSMUST00000110647
AA Change: T1559K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: T1559K

Domain	Start	End	E-Value	Type
low complexity region	136	149	N/A	INTRINSIC
low complexity region	158	169	N/A	INTRINSIC
low complexity region	647	661	N/A	INTRINSIC
low complexity region	1031	1042	N/A	INTRINSIC
low complexity region	1099	1112	N/A	INTRINSIC
low complexity region	1260	1272	N/A	INTRINSIC
low complexity region	1290	1332	N/A	INTRINSIC
Pfam:53-BP1_Tudor	1430	1551	2.5e-80	PFAM
low complexity region	1581	1601	N/A	INTRINSIC
BRCT	1673	1785	7.13e-1	SMART
BRCT	1813	1901	1.03e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110648
AA Change: T1609K

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

SMART Domains

Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: T1609K

Domain	Start	End	E-Value	Type
low complexity region	136	149	N/A	INTRINSIC
low complexity region	158	169	N/A	INTRINSIC
low complexity region	647	661	N/A	INTRINSIC
low complexity region	1031	1042	N/A	INTRINSIC
low complexity region	1099	1112	N/A	INTRINSIC
low complexity region	1260	1272	N/A	INTRINSIC
low complexity region	1290	1332	N/A	INTRINSIC
low complexity region	1389	1409	N/A	INTRINSIC
Pfam:53-BP1_Tudor	1480	1601	1.5e-80	PFAM
low complexity region	1631	1651	N/A	INTRINSIC
BRCT	1723	1835	7.13e-1	SMART
BRCT	1863	1951	1.03e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124411

Predicted Effect

probably benign
Transcript: ENSMUST00000124554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135890

Predicted Effect

probably benign
Transcript: ENSMUST00000147540

Predicted Effect

probably damaging
Transcript: ENSMUST00000154426
AA Change: T78K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117548
Gene: ENSMUSG00000043909
AA Change: T78K

Domain	Start	End	E-Value	Type
Pfam:53-BP1_Tudor	1	70	2.5e-44	PFAM
low complexity region	100	120	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147554

Meta Mutation Damage Score

0.1753

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

98% (56/57)

MGI Phenotype

PHENOTYPE: Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,044,308 (GRCm39)	V194A	probably damaging	Het
Adamts13	G	A	2: 26,876,691 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,988,508 (GRCm39)	M3264T	possibly damaging	Het
Birc6	T	A	17: 74,906,335 (GRCm39)	C1409S	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Dnah2	A	G	11: 69,338,687 (GRCm39)	V3161A	probably damaging	Het
Dnah5	A	T	15: 28,383,727 (GRCm39)	Y2983F	probably damaging	Het
Dnah6	G	A	6: 73,060,107 (GRCm39)	L2774F	probably damaging	Het
Dst	A	T	1: 34,256,917 (GRCm39)	T4398S	probably damaging	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Efcab5	A	T	11: 77,063,204 (GRCm39)	M96K	probably benign	Het
Elavl4	A	G	4: 110,063,902 (GRCm39)		probably benign	Het
Flt4	G	A	11: 49,535,213 (GRCm39)	A1214T	probably benign	Het
Fn1	G	T	1: 71,634,945 (GRCm39)	T2127N	probably damaging	Het
Foxj1	A	T	11: 116,222,629 (GRCm39)	S391R	possibly damaging	Het
Gabrb1	A	T	5: 72,266,150 (GRCm39)	Y269F	probably damaging	Het
Ghitm	A	G	14: 36,847,868 (GRCm39)	S259P	possibly damaging	Het
Gm16332	A	G	1: 139,851,928 (GRCm39)		noncoding transcript	Het
Gm16380	T	A	9: 53,791,727 (GRCm39)		noncoding transcript	Het
Gm9869	A	T	9: 60,745,344 (GRCm39)		probably benign	Het
Gm9936	G	A	5: 114,995,192 (GRCm39)	Q142*	probably null	Het
Hmbs	T	C	9: 44,248,305 (GRCm39)	Y260C	probably benign	Het
Hoxc5	T	A	15: 102,923,784 (GRCm39)	C193*	probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Lce1j	T	C	3: 92,696,695 (GRCm39)	K28E	unknown	Het
Lpgat1	C	T	1: 191,451,460 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,882,799 (GRCm39)		probably benign	Het
Megf11	A	G	9: 64,547,360 (GRCm39)	N235D	probably damaging	Het
Mst1r	T	A	9: 107,794,003 (GRCm39)		probably null	Het
Nr2c2ap	A	G	8: 70,584,237 (GRCm39)	D9G	probably benign	Het
Obscn	T	C	11: 59,027,165 (GRCm39)	T13A	probably damaging	Het
Ofcc1	A	C	13: 40,367,950 (GRCm39)	L188*	probably null	Het
Oma1	A	T	4: 103,182,398 (GRCm39)		probably benign	Het
Or10aa3	A	T	1: 173,877,965 (GRCm39)	T9S	probably benign	Het
Or5m11	A	G	2: 85,782,217 (GRCm39)	E270G	probably damaging	Het
Pcm1	T	C	8: 41,769,060 (GRCm39)	F1642S	probably damaging	Het
Pglyrp2	A	G	17: 32,639,836 (GRCm39)	M1T	probably null	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm10	C	A	9: 31,227,596 (GRCm39)	T67K	probably damaging	Het
Ralgapa1	A	T	12: 55,754,852 (GRCm39)	H1193Q	probably benign	Het
Sall1	A	G	8: 89,759,232 (GRCm39)	S291P	probably damaging	Het
Sdk2	T	C	11: 113,784,290 (GRCm39)	T150A	probably damaging	Het
Sel1l2	T	A	2: 140,117,361 (GRCm39)	Y170F	probably benign	Het
Sema4a	C	T	3: 88,344,107 (GRCm39)	V715I	possibly damaging	Het
Smgc	G	A	15: 91,738,841 (GRCm39)	A500T	probably benign	Het
Spef2	A	G	15: 9,584,148 (GRCm39)	V1639A	probably damaging	Het
Srrm4	A	G	5: 116,620,437 (GRCm39)		probably benign	Het
Tbc1d23	G	A	16: 57,009,636 (GRCm39)	H418Y	probably damaging	Het
Tbk1	A	G	10: 121,420,159 (GRCm39)	L10P	probably damaging	Het
Thumpd3	G	A	6: 113,042,621 (GRCm39)		probably null	Het
Tut1	A	G	19: 8,932,919 (GRCm39)	N84S	probably benign	Het
Urb1	C	T	16: 90,593,287 (GRCm39)	G282R	probably damaging	Het
Usp19	A	T	9: 108,376,910 (GRCm39)	D1160V	probably damaging	Het
Usp9y	A	G	Y: 1,316,933 (GRCm39)	V1872A	probably damaging	Het
Zfp276	C	A	8: 123,986,242 (GRCm39)	Y386*	probably null	Het

Other mutations in Trp53bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Trp53bp1	APN	2	121,087,060 (GRCm39)	missense	possibly damaging	0.69
IGL00690:Trp53bp1	APN	2	121,066,476 (GRCm39)	missense	probably damaging	1.00
IGL00922:Trp53bp1	APN	2	121,038,963 (GRCm39)	missense	probably damaging	0.96
IGL01475:Trp53bp1	APN	2	121,100,800 (GRCm39)	splice site	probably null
IGL01639:Trp53bp1	APN	2	121,033,173 (GRCm39)	missense	possibly damaging	0.51
IGL01662:Trp53bp1	APN	2	121,066,506 (GRCm39)	missense	probably damaging	1.00
IGL01757:Trp53bp1	APN	2	121,041,785 (GRCm39)	missense	probably damaging	0.99
IGL01829:Trp53bp1	APN	2	121,046,377 (GRCm39)	missense	probably benign	0.39
IGL02247:Trp53bp1	APN	2	121,067,070 (GRCm39)	missense	probably damaging	1.00
IGL02349:Trp53bp1	APN	2	121,029,555 (GRCm39)	missense	probably damaging	1.00
IGL02391:Trp53bp1	APN	2	121,033,191 (GRCm39)	missense	possibly damaging	0.67
chives	UTSW	2	121,082,349 (GRCm39)	missense	probably null	0.13
concur	UTSW	2	121,100,800 (GRCm39)	splice site	probably null
confirmation	UTSW	2	121,035,594 (GRCm39)	critical splice acceptor site	probably null
Infra	UTSW	2	121,077,980 (GRCm39)	critical splice donor site	probably null
Legume	UTSW	2	121,029,523 (GRCm39)	missense	probably damaging	0.99
lentil	UTSW	2	121,082,349 (GRCm39)	missense	probably null	0.13
lentil2	UTSW	2	121,038,368 (GRCm39)	missense	probably damaging	1.00
Profundus	UTSW	2	121,038,284 (GRCm39)	missense	probably damaging	1.00
split_pea	UTSW	2	121,059,087 (GRCm39)	nonsense	probably null
verily	UTSW	2	121,041,794 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Trp53bp1	UTSW	2	121,101,756 (GRCm39)	missense	probably damaging	1.00
R0045:Trp53bp1	UTSW	2	121,034,978 (GRCm39)	missense	probably benign
R0060:Trp53bp1	UTSW	2	121,035,006 (GRCm39)	missense	probably damaging	1.00
R0060:Trp53bp1	UTSW	2	121,035,006 (GRCm39)	missense	probably damaging	1.00
R0103:Trp53bp1	UTSW	2	121,067,240 (GRCm39)	missense	possibly damaging	0.92
R0103:Trp53bp1	UTSW	2	121,067,240 (GRCm39)	missense	possibly damaging	0.92
R0281:Trp53bp1	UTSW	2	121,100,718 (GRCm39)	missense	probably damaging	1.00
R0427:Trp53bp1	UTSW	2	121,066,498 (GRCm39)	missense	probably damaging	1.00
R0505:Trp53bp1	UTSW	2	121,100,450 (GRCm39)	missense	probably damaging	0.99
R0522:Trp53bp1	UTSW	2	121,082,349 (GRCm39)	missense	probably null	0.13
R0523:Trp53bp1	UTSW	2	121,082,349 (GRCm39)	missense	probably null	0.13
R0525:Trp53bp1	UTSW	2	121,082,349 (GRCm39)	missense	probably null	0.13
R0543:Trp53bp1	UTSW	2	121,082,349 (GRCm39)	missense	probably null	0.13
R0559:Trp53bp1	UTSW	2	121,058,282 (GRCm39)	missense	probably damaging	1.00
R0573:Trp53bp1	UTSW	2	121,058,653 (GRCm39)	splice site	probably benign
R0593:Trp53bp1	UTSW	2	121,101,009 (GRCm39)	missense	possibly damaging	0.95
R0648:Trp53bp1	UTSW	2	121,066,188 (GRCm39)	missense	probably benign	0.20
R0680:Trp53bp1	UTSW	2	121,082,349 (GRCm39)	missense	probably null	0.13
R0732:Trp53bp1	UTSW	2	121,078,745 (GRCm39)	missense	probably null	0.96
R0905:Trp53bp1	UTSW	2	121,034,799 (GRCm39)	splice site	probably benign
R1377:Trp53bp1	UTSW	2	121,101,123 (GRCm39)	missense	probably damaging	1.00
R1415:Trp53bp1	UTSW	2	121,066,665 (GRCm39)	missense	probably damaging	1.00
R1725:Trp53bp1	UTSW	2	121,082,481 (GRCm39)	missense	possibly damaging	0.46
R1971:Trp53bp1	UTSW	2	121,035,517 (GRCm39)	missense	probably damaging	1.00
R2045:Trp53bp1	UTSW	2	121,034,964 (GRCm39)	missense	probably benign
R2143:Trp53bp1	UTSW	2	121,046,545 (GRCm39)	missense	probably benign	0.00
R2282:Trp53bp1	UTSW	2	121,100,754 (GRCm39)	nonsense	probably null
R2296:Trp53bp1	UTSW	2	121,039,728 (GRCm39)	missense	possibly damaging	0.96
R3106:Trp53bp1	UTSW	2	121,067,133 (GRCm39)	missense	probably damaging	1.00
R3792:Trp53bp1	UTSW	2	121,030,810 (GRCm39)	missense	probably damaging	1.00
R3793:Trp53bp1	UTSW	2	121,030,810 (GRCm39)	missense	probably damaging	1.00
R3946:Trp53bp1	UTSW	2	121,059,107 (GRCm39)	missense	probably damaging	0.99
R4001:Trp53bp1	UTSW	2	121,035,566 (GRCm39)	missense	probably damaging	1.00
R4327:Trp53bp1	UTSW	2	121,087,131 (GRCm39)	missense	probably damaging	1.00
R4585:Trp53bp1	UTSW	2	121,038,432 (GRCm39)	missense	probably damaging	1.00
R4630:Trp53bp1	UTSW	2	121,038,368 (GRCm39)	missense	probably damaging	1.00
R4744:Trp53bp1	UTSW	2	121,041,794 (GRCm39)	missense	probably damaging	1.00
R4751:Trp53bp1	UTSW	2	121,058,290 (GRCm39)	missense	probably damaging	1.00
R4754:Trp53bp1	UTSW	2	121,038,360 (GRCm39)	missense	probably damaging	1.00
R4755:Trp53bp1	UTSW	2	121,059,087 (GRCm39)	nonsense	probably null
R4850:Trp53bp1	UTSW	2	121,035,594 (GRCm39)	critical splice acceptor site	probably null
R4870:Trp53bp1	UTSW	2	121,087,122 (GRCm39)	missense	probably damaging	1.00
R4879:Trp53bp1	UTSW	2	121,033,084 (GRCm39)	missense	probably damaging	0.99
R4924:Trp53bp1	UTSW	2	121,051,701 (GRCm39)	nonsense	probably null
R4962:Trp53bp1	UTSW	2	121,101,027 (GRCm39)	missense	probably benign	0.12
R5019:Trp53bp1	UTSW	2	121,100,800 (GRCm39)	splice site	probably null
R5111:Trp53bp1	UTSW	2	121,041,868 (GRCm39)	missense	probably damaging	0.99
R5149:Trp53bp1	UTSW	2	121,046,598 (GRCm39)	missense	probably benign	0.00
R5252:Trp53bp1	UTSW	2	121,074,464 (GRCm39)	missense	probably benign	0.40
R5533:Trp53bp1	UTSW	2	121,038,227 (GRCm39)	missense	probably damaging	1.00
R5642:Trp53bp1	UTSW	2	121,067,143 (GRCm39)	missense	probably benign	0.00
R5773:Trp53bp1	UTSW	2	121,074,395 (GRCm39)	missense	probably damaging	1.00
R5819:Trp53bp1	UTSW	2	121,038,873 (GRCm39)	nonsense	probably null
R5886:Trp53bp1	UTSW	2	121,035,502 (GRCm39)	missense	probably damaging	1.00
R5908:Trp53bp1	UTSW	2	121,067,304 (GRCm39)	missense	probably benign	0.06
R6012:Trp53bp1	UTSW	2	121,087,083 (GRCm39)	missense	probably benign	0.07
R6351:Trp53bp1	UTSW	2	121,100,426 (GRCm39)	missense	probably damaging	1.00
R6406:Trp53bp1	UTSW	2	121,101,093 (GRCm39)	missense	probably damaging	0.99
R6575:Trp53bp1	UTSW	2	121,059,084 (GRCm39)	missense	probably damaging	1.00
R6619:Trp53bp1	UTSW	2	121,077,980 (GRCm39)	critical splice donor site	probably null
R6626:Trp53bp1	UTSW	2	121,038,284 (GRCm39)	missense	probably damaging	1.00
R6754:Trp53bp1	UTSW	2	121,101,057 (GRCm39)	missense	possibly damaging	0.83
R6765:Trp53bp1	UTSW	2	121,039,790 (GRCm39)	missense	probably damaging	1.00
R6806:Trp53bp1	UTSW	2	121,059,147 (GRCm39)	missense	probably damaging	0.99
R6860:Trp53bp1	UTSW	2	121,029,594 (GRCm39)	missense	probably damaging	1.00
R6991:Trp53bp1	UTSW	2	121,038,521 (GRCm39)	missense	probably damaging	1.00
R7278:Trp53bp1	UTSW	2	121,029,516 (GRCm39)	missense	probably damaging	1.00
R7339:Trp53bp1	UTSW	2	121,066,950 (GRCm39)	missense	probably benign	0.00
R7357:Trp53bp1	UTSW	2	121,041,781 (GRCm39)	missense	probably damaging	1.00
R7477:Trp53bp1	UTSW	2	121,066,827 (GRCm39)	missense	probably benign	0.34
R7577:Trp53bp1	UTSW	2	121,067,119 (GRCm39)	missense	possibly damaging	0.65
R7643:Trp53bp1	UTSW	2	121,078,295 (GRCm39)	splice site	probably null
R7728:Trp53bp1	UTSW	2	121,038,380 (GRCm39)	missense	probably damaging	1.00
R7806:Trp53bp1	UTSW	2	121,035,542 (GRCm39)	missense	probably damaging	0.99
R7955:Trp53bp1	UTSW	2	121,066,225 (GRCm39)	missense	possibly damaging	0.59
R8099:Trp53bp1	UTSW	2	121,030,230 (GRCm39)	missense	probably damaging	1.00
R8200:Trp53bp1	UTSW	2	121,066,657 (GRCm39)	missense	probably benign	0.00
R8282:Trp53bp1	UTSW	2	121,029,523 (GRCm39)	missense	probably damaging	0.99
R9136:Trp53bp1	UTSW	2	121,067,092 (GRCm39)	missense	possibly damaging	0.84
R9152:Trp53bp1	UTSW	2	121,029,056 (GRCm39)	missense	probably damaging	0.99
R9292:Trp53bp1	UTSW	2	121,046,177 (GRCm39)	missense	probably damaging	0.97
R9340:Trp53bp1	UTSW	2	121,100,460 (GRCm39)	missense	probably benign	0.40
R9475:Trp53bp1	UTSW	2	121,039,761 (GRCm39)	missense	probably benign	0.00
R9616:Trp53bp1	UTSW	2	121,066,657 (GRCm39)	missense	probably benign	0.30
R9675:Trp53bp1	UTSW	2	121,087,089 (GRCm39)	missense	probably benign	0.03
R9779:Trp53bp1	UTSW	2	121,066,469 (GRCm39)	missense	probably damaging	1.00
RF046:Trp53bp1	UTSW	2	121,046,482 (GRCm39)	frame shift	probably null
Z1088:Trp53bp1	UTSW	2	121,084,126 (GRCm39)	missense	probably benign	0.04
Z1177:Trp53bp1	UTSW	2	121,074,541 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TTGCTCCCCGATAGGAGGAGAAAG -3'
(R):5'- TCATCTCCAGGAGTGGTGAAAGGAC -3'

Sequencing Primer
(F):5'- GGCCAGAAAAATCCTAGAGACTTC -3'
(R):5'- ACATAGGAAGGAGTCTGGGG -3'

Posted On

2013-08-08