Mutagenetix > Incidental Mutation

Incidental Mutation 'R6575:Trp53bp1'

523380

Institutional Source

Beutler Lab

Gene Symbol

Trp53bp1

Ensembl Gene

ENSMUSG00000043909

Gene Name

transformation related protein 53 binding protein 1

Synonyms

53BP1, p53BP1

MMRRC Submission

044699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121023762-121101888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121059084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 926 (H926Y)

Ref Sequence

ENSEMBL: ENSMUSP00000106278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110647] [ENSMUST00000110648] [ENSMUST00000131245]

AlphaFold

P70399

Predicted Effect

probably damaging
Transcript: ENSMUST00000110647
AA Change: H926Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: H926Y

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: H926Y

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

SMART Domains

Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: H926Y

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: ENSMUST00000124031

Predicted Effect

probably benign
Transcript: ENSMUST00000131245

SMART Domains

Protein: ENSMUSP00000114457
Gene: ENSMUSG00000043909

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	991	1002	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000142400
AA Change: H74Y

Predicted Effect

unknown
Transcript: ENSMUST00000147540
AA Change: H180Y

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,330,683 (GRCm39)	Y1177C	probably damaging	Het
Acnat1	A	G	4: 49,450,785 (GRCm39)	Y109H	possibly damaging	Het
Adgrf3	T	A	5: 30,401,522 (GRCm39)	K835N	possibly damaging	Het
Afg1l	T	C	10: 42,194,712 (GRCm39)	D360G	probably damaging	Het
Ap3s1	C	T	18: 46,887,448 (GRCm39)	T27M	probably benign	Het
Atp8b4	A	G	2: 126,256,284 (GRCm39)	L225P	probably damaging	Het
Bicra	G	A	7: 15,713,056 (GRCm39)	T997I	probably benign	Het
Bod1l	T	C	5: 41,995,411 (GRCm39)	R112G	probably damaging	Het
Cabin1	T	C	10: 75,561,535 (GRCm39)	T989A	possibly damaging	Het
Cog1	C	A	11: 113,546,887 (GRCm39)	Q494K	probably benign	Het
Cyb5rl	T	C	4: 106,942,550 (GRCm39)	Y160H	probably benign	Het
Dnajb8	A	G	6: 88,200,057 (GRCm39)	N198D	probably damaging	Het
Eif1ad11	T	C	12: 87,994,117 (GRCm39)	I115T	probably damaging	Het
Eif3l	C	A	15: 78,970,778 (GRCm39)	Q351K	possibly damaging	Het
Esr1	T	C	10: 4,916,301 (GRCm39)		probably benign	Het
Fam3c	G	T	6: 22,329,607 (GRCm39)	A40D	probably damaging	Het
Fcrla	A	G	1: 170,749,797 (GRCm39)	S87P	probably damaging	Het
Glra1	A	G	11: 55,411,822 (GRCm39)	Y246H	probably damaging	Het
Gm45871	T	A	18: 90,609,844 (GRCm39)	C361S	probably damaging	Het
Greb1l	A	G	18: 10,547,347 (GRCm39)	N1522D	possibly damaging	Het
Hcn4	T	C	9: 58,731,435 (GRCm39)	M214T	unknown	Het
Heatr5b	A	T	17: 79,070,418 (GRCm39)	V1665E	probably damaging	Het
Hemgn	C	A	4: 46,395,990 (GRCm39)	M415I	possibly damaging	Het
Hibadh	G	A	6: 52,524,013 (GRCm39)	T295I	probably damaging	Het
Iars1	T	C	13: 49,878,745 (GRCm39)	L947P	probably damaging	Het
Icam2	G	A	11: 106,269,585 (GRCm39)	T178I	probably damaging	Het
Lbr	A	G	1: 181,663,763 (GRCm39)	S86P	probably damaging	Het
Lipe	G	A	7: 25,082,749 (GRCm39)	T801I	probably benign	Het
Lrp6	T	C	6: 134,518,934 (GRCm39)	T44A	possibly damaging	Het
Malrd1	A	G	2: 15,847,439 (GRCm39)	H1193R	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,699,676 (GRCm39)	I1671V	probably benign	Het
Or2c1	A	G	16: 3,656,894 (GRCm39)	D19G	probably benign	Het
Osbpl9	T	C	4: 108,930,129 (GRCm39)	D334G	possibly damaging	Het
Pdcd11	A	G	19: 47,098,117 (GRCm39)	D801G	probably damaging	Het
Pfdn4	C	A	2: 170,358,556 (GRCm39)	D16E	probably benign	Het
Pmp22	C	T	11: 63,049,099 (GRCm39)	A114V	probably damaging	Het
Rrp9	C	T	9: 106,360,778 (GRCm39)	T253I	probably damaging	Het
Speer1m	A	T	5: 11,970,612 (GRCm39)	K62*	probably null	Het
Tnrc6a	A	G	7: 122,769,133 (GRCm39)	T308A	probably damaging	Het
Trgv4	T	A	13: 19,369,250 (GRCm39)	C34S	probably benign	Het
Trhr	A	G	15: 44,092,602 (GRCm39)	M280V	possibly damaging	Het
Trpv5	A	T	6: 41,652,903 (GRCm39)	I90K	probably benign	Het
Ttn	T	C	2: 76,719,259 (GRCm39)		probably benign	Het
Vav1	A	C	17: 57,612,280 (GRCm39)	R513S	probably damaging	Het
Vmn2r100	A	T	17: 19,741,671 (GRCm39)	T128S	probably benign	Het
Zfp687	T	C	3: 94,915,700 (GRCm39)	Y1024C	probably damaging	Het
Zfp938	C	A	10: 82,061,160 (GRCm39)	G487*	probably null	Het
Znrf2	A	G	6: 54,855,430 (GRCm39)	Y73C	probably damaging	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
R0386:Trp53bp1	UTSW	2	121,035,424 (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
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'- AGTGAGGTCAAACCCTGCTG -3'
(R):5'- GGCTGTGAAGCTGATAGGAC -3'

Sequencing Primer
(F):5'- GTCAAACCCTGCTGCTCCAC -3'
(R):5'- TATCCCACCATTGACTGG -3'

Posted On

2018-06-22