Mutagenetix > Incidental Mutation

Incidental Mutation 'R0543:Trp53bp1'

50033

Institutional Source

Beutler Lab

Gene Symbol

Trp53bp1

Ensembl Gene

ENSMUSG00000043909

Gene Name

transformation related protein 53 binding protein 1

Synonyms

53BP1, p53BP1

MMRRC Submission

038735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0543 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

121023762-121101888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121082349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 317 (A317S)

Ref Sequence

ENSEMBL: ENSMUSP00000114457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110647] [ENSMUST00000110648] [ENSMUST00000129752] [ENSMUST00000131245]

AlphaFold

P70399

Predicted Effect

probably null
Transcript: ENSMUST00000110647
AA Change: A317S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: A317S

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 null
Transcript: ENSMUST00000110648
AA Change: A317S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: A317S

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

probably benign
Transcript: ENSMUST00000129752
AA Change: G54C

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably null
Transcript: ENSMUST00000131245
AA Change: A317S

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114457
Gene: ENSMUSG00000043909
AA Change: A317S

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

noncoding transcript
Transcript: ENSMUST00000136617

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	A	6: 116,431,278 (GRCm39)		probably null	Het
Apol9b	A	G	15: 77,619,840 (GRCm39)	N212S	probably damaging	Het
Ash1l	T	A	3: 88,971,085 (GRCm39)		probably null	Het
Bltp1	G	A	3: 37,050,607 (GRCm39)	S2981N	probably benign	Het
Ccdc180	A	T	4: 45,900,041 (GRCm39)	K200*	probably null	Het
Ccser2	A	T	14: 36,662,149 (GRCm39)	M345K	probably benign	Het
Cdcp2	A	T	4: 106,954,873 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,454,155 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,246,051 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,075,326 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,244,325 (GRCm39)	F1035S	probably damaging	Het
Dsg1a	A	T	18: 20,473,920 (GRCm39)	S998C	probably damaging	Het
Ecrg4	C	A	1: 43,781,449 (GRCm39)	N110K	possibly damaging	Het
Enox1	T	C	14: 77,744,399 (GRCm39)		probably benign	Het
Fgfr3	A	G	5: 33,887,054 (GRCm39)	M1V	probably null	Het
Fuca2	T	A	10: 13,378,870 (GRCm39)	Y5N	probably damaging	Het
Git2	G	T	5: 114,883,592 (GRCm39)	H42Q	probably damaging	Het
Gm7964	G	A	7: 83,405,602 (GRCm39)		noncoding transcript	Het
Hars2	G	A	18: 36,922,477 (GRCm39)	E337K	probably damaging	Het
Hells	A	G	19: 38,956,194 (GRCm39)	R797G	probably benign	Het
Hnf1a	G	A	5: 115,088,803 (GRCm39)	S571L	probably benign	Het
Hoxa5	T	C	6: 52,181,320 (GRCm39)	Y4C	probably damaging	Het
Inpp4a	G	A	1: 37,408,573 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,934,060 (GRCm39)	I816V	probably damaging	Het
Itpr1	T	C	6: 108,492,709 (GRCm39)		probably benign	Het
Itprid2	T	A	2: 79,474,850 (GRCm39)	S270T	possibly damaging	Het
Kcnt2	C	A	1: 140,537,352 (GRCm39)	P1037T	probably damaging	Het
Lyg2	T	A	1: 37,950,188 (GRCm39)	M47L	possibly damaging	Het
Macf1	G	T	4: 123,270,171 (GRCm39)	A4648D	probably damaging	Het
Mcf2l	T	C	8: 13,046,728 (GRCm39)		probably null	Het
Mcm9	C	T	10: 53,417,694 (GRCm39)	R3H	probably damaging	Het
Met	T	A	6: 17,491,969 (GRCm39)	Y244N	probably damaging	Het
Mettl14	A	T	3: 123,168,411 (GRCm39)	C210S	possibly damaging	Het
Mrgpra4	T	C	7: 47,631,058 (GRCm39)	Y181C	probably benign	Het
Mtch2	T	C	2: 90,680,026 (GRCm39)	V86A	possibly damaging	Het
Mttp	A	T	3: 137,817,457 (GRCm39)	I446N	possibly damaging	Het
Muc4	T	A	16: 32,577,120 (GRCm39)	S2207T	unknown	Het
Muc5b	A	G	7: 141,405,522 (GRCm39)	T944A	unknown	Het
Myo15a	A	T	11: 60,369,877 (GRCm39)	H879L	probably benign	Het
Nherf4	A	C	9: 44,160,231 (GRCm39)	H324Q	probably damaging	Het
Nkiras2	G	A	11: 100,515,018 (GRCm39)		probably benign	Het
Nostrin	T	G	2: 69,019,475 (GRCm39)	*507E	probably null	Het
Nup205	T	C	6: 35,175,904 (GRCm39)	V589A	probably benign	Het
Or12j3	A	G	7: 139,953,307 (GRCm39)	I72T	probably benign	Het
Or5b21	G	T	19: 12,839,252 (GRCm39)	V38F	probably benign	Het
Or5w17	C	A	2: 87,583,994 (GRCm39)	L114F	probably damaging	Het
Oxct2b	T	A	4: 123,010,782 (GRCm39)	M234K	possibly damaging	Het
Pcdha1	A	T	18: 37,318,121 (GRCm39)	I945F	probably damaging	Het
Pik3ca	G	A	3: 32,504,410 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,386,887 (GRCm39)		probably null	Het
Plscr1	A	T	9: 92,140,099 (GRCm39)		probably null	Het
Prkn	G	A	17: 11,286,066 (GRCm39)	D20N	probably damaging	Het
Psd	T	C	19: 46,307,956 (GRCm39)	E684G	possibly damaging	Het
Rab11fip3	T	C	17: 26,213,199 (GRCm39)	E870G	probably damaging	Het
Rpl22l1	C	A	3: 28,861,423 (GRCm39)	Y103*	probably null	Het
Semp2l2b	T	C	10: 21,942,823 (GRCm39)	S386G	possibly damaging	Het
Slc38a4	A	T	15: 96,914,720 (GRCm39)	N44K	possibly damaging	Het
Slco6c1	T	A	1: 97,055,623 (GRCm39)	I93F	probably damaging	Het
Strip1	G	A	3: 107,534,091 (GRCm39)	T181M	possibly damaging	Het
Stxbp5l	G	A	16: 37,028,458 (GRCm39)	A535V	probably damaging	Het
Tg	A	T	15: 66,601,446 (GRCm39)	Q152L	probably benign	Het
Thada	T	C	17: 84,730,591 (GRCm39)	T1036A	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tns1	T	A	1: 73,991,856 (GRCm39)	T941S	probably benign	Het
Tppp3	T	C	8: 106,194,840 (GRCm39)	D97G	probably benign	Het
Trpm7	T	C	2: 126,690,449 (GRCm39)	I210V	probably damaging	Het
Ubr1	A	G	2: 120,711,574 (GRCm39)	L1440P	probably damaging	Het
Utp18	A	T	11: 93,766,661 (GRCm39)	Y317N	probably damaging	Het
Zdhhc5	T	A	2: 84,522,824 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		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
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
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'- AATCCCACGCTTTCCTAGATGCAC -3'
(R):5'- AGTCCTCAAGTTTCTGTTGCTGCTG -3'

Sequencing Primer
(F):5'- GCTGACAAGTAAACACTCTCTG -3'
(R):5'- TGTTGCTGCTGTGGAAACAAAG -3'

Posted On

2013-06-12