Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00336:Trp53bp1'

7065

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trp53bp1

Ensembl Gene

ENSMUSG00000043909

Gene Name

transformation related protein 53 binding protein 1

Synonyms

53BP1, p53BP1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

121023762-121101888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121087060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 199 (Q199K)

Ref Sequence

ENSEMBL: ENSMUSP00000114457 (fasta)

Gene Model

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

AlphaFold

P70399

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110647
AA Change: Q199K

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: Q199K

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

possibly damaging
Transcript: ENSMUST00000110648
AA Change: Q199K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: Q199K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131245
AA Change: Q199K

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114457
Gene: ENSMUSG00000043909
AA Change: Q199K

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: ENSMUST00000131426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136617

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,645,366 (GRCm39)	Y417C	probably damaging	Het
Adam28	T	A	14: 68,859,569 (GRCm39)	H548L	possibly damaging	Het
Agbl3	A	T	6: 34,823,771 (GRCm39)	D812V	probably damaging	Het
Aopep	A	T	13: 63,163,237 (GRCm39)	D86V	possibly damaging	Het
Aox1	T	A	1: 58,098,203 (GRCm39)	L305Q	probably damaging	Het
Arhgef38	A	G	3: 132,837,812 (GRCm39)	V706A	probably benign	Het
Arl15	A	G	13: 114,291,288 (GRCm39)	I171V	probably benign	Het
Cacna1s	C	A	1: 136,012,011 (GRCm39)	Y237*	probably null	Het
Ccnt1	T	C	15: 98,462,990 (GRCm39)	T61A	possibly damaging	Het
Col25a1	T	A	3: 129,975,433 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,290,077 (GRCm39)		probably benign	Het
Dcun1d1	T	C	3: 35,970,455 (GRCm39)	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,181,309 (GRCm39)	M1065I	probably benign	Het
Ephb2	T	G	4: 136,384,795 (GRCm39)	K872T	probably damaging	Het
Fga	G	A	3: 82,938,981 (GRCm39)	G452D	probably damaging	Het
Flrt1	T	A	19: 7,074,277 (GRCm39)	N90I	probably damaging	Het
Fut10	T	A	8: 31,685,319 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr137b	T	C	13: 13,549,000 (GRCm39)		probably benign	Het
Gprc5d	G	A	6: 135,093,488 (GRCm39)	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,417,476 (GRCm39)	K237R	unknown	Het
Ipo8	A	T	6: 148,684,284 (GRCm39)	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Lama1	A	T	17: 68,120,943 (GRCm39)	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,755,889 (GRCm39)	W40R	probably damaging	Het
Minar1	T	C	9: 89,485,196 (GRCm39)	D67G	probably damaging	Het
Morn2	C	A	17: 80,602,933 (GRCm39)		probably benign	Het
Ms4a6b	T	A	19: 11,506,854 (GRCm39)	N214K	possibly damaging	Het
Nags	A	T	11: 102,039,892 (GRCm39)	S527C	probably damaging	Het
Ndst1	C	T	18: 60,841,028 (GRCm39)	G218D	probably damaging	Het
Or10j5	G	A	1: 172,785,045 (GRCm39)	V228M	probably benign	Het
Or5b94	T	A	19: 12,651,924 (GRCm39)	Y118*	probably null	Het
Or8h7	C	T	2: 86,720,589 (GRCm39)	C310Y	probably benign	Het
Oxa1l	G	T	14: 54,600,802 (GRCm39)	G92*	probably null	Het
Parp16	A	T	9: 65,137,245 (GRCm39)	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,684,984 (GRCm39)	I484F	probably damaging	Het
Pex16	A	G	2: 92,209,580 (GRCm39)	R263G	probably benign	Het
Pkd1l3	G	A	8: 110,356,869 (GRCm39)	E765K	possibly damaging	Het
Plce1	T	C	19: 38,640,350 (GRCm39)	V532A	probably damaging	Het
Polq	A	G	16: 36,885,609 (GRCm39)		probably benign	Het
Pramel5	T	C	4: 143,998,191 (GRCm39)	T351A	probably damaging	Het
Prokr1	A	T	6: 87,565,593 (GRCm39)	I84N	probably damaging	Het
Prss30	A	T	17: 24,192,695 (GRCm39)	S162T	probably benign	Het
Ranbp2	A	G	10: 58,287,806 (GRCm39)	K25E	probably damaging	Het
Rapsn	A	G	2: 90,866,205 (GRCm39)	T22A	probably damaging	Het
Rhoj	G	T	12: 75,355,680 (GRCm39)	G9V	probably damaging	Het
Rnf213	A	G	11: 119,340,169 (GRCm39)	R3467G	probably benign	Het
Rreb1	C	A	13: 38,113,622 (GRCm39)	S327*	probably null	Het
Scn5a	G	A	9: 119,315,290 (GRCm39)	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,423,042 (GRCm39)		probably null	Het
Stag3	G	A	5: 138,295,921 (GRCm39)	E416K	probably benign	Het
Stpg1	T	A	4: 135,256,856 (GRCm39)	S216T	possibly damaging	Het
Tfeb	C	A	17: 48,102,589 (GRCm39)	N426K	probably benign	Het
Ubr4	A	G	4: 139,155,877 (GRCm39)	D2234G	probably damaging	Het
Ush1c	T	G	7: 45,846,194 (GRCm39)	Q866P	probably benign	Het
Vdr	T	A	15: 97,782,735 (GRCm39)	D29V	probably damaging	Het
Vps13c	T	C	9: 67,853,224 (GRCm39)	V2439A	probably benign	Het
Xirp2	T	C	2: 67,342,942 (GRCm39)	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,441,436 (GRCm39)	S409P	probably damaging	Het

Other mutations in Trp53bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20