Mutagenetix > Incidental Mutation

Incidental Mutation 'R7139:Parp8'

553298

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117025266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 40 (M40L)

Ref Sequence

ENSEMBL: ENSMUSP00000022239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000225344] [ENSMUST00000225974] [ENSMUST00000226107]

AlphaFold

Q3UD82

Predicted Effect

probably benign
Transcript: ENSMUST00000022239
AA Change: M40L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: M40L

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
low complexity region	163	174	N/A	INTRINSIC
low complexity region	217	228	N/A	INTRINSIC
internal_repeat_1	332	410	4.61e-10	PROSPERO
internal_repeat_1	404	476	4.61e-10	PROSPERO
low complexity region	497	514	N/A	INTRINSIC
Pfam:PARP	712	839	2e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223949
AA Change: M1L

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225344
AA Change: M40L

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000225974
AA Change: M40L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000226107
AA Change: M1L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,941,838	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,590,078	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,850,184	M480L	probably benign	Het
Abcd4	A	G	12: 84,606,298	C377R	probably benign	Het
Adam23	C	A	1: 63,545,577	D381E	probably damaging	Het
Angpt1	T	A	15: 42,676,351	Q37H	probably damaging	Het
Apeh	A	T	9: 108,092,146	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,889	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,666,721	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,415,359	S46G	unknown	Het
Cfc1	T	C	1: 34,536,479	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,755,302	V196E	possibly damaging	Het
Cma1	T	C	14: 55,943,816	H44R	probably damaging	Het
Cnot2	T	C	10: 116,495,019	N394S	probably benign	Het
Cstf3	A	T	2: 104,653,064	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 107,071,011	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,613,976	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,617,427	N36S	probably benign	Het
Dnah6	A	G	6: 73,135,680	V1647A	probably damaging	Het
Dock6	T	C	9: 21,801,276	Y2063C	probably damaging	Het
Dst	T	A	1: 34,299,807	D5149E	probably damaging	Het
Fancl	A	G	11: 26,403,358	M85V	probably benign	Het
Fgd2	T	A	17: 29,373,255	F387Y	probably damaging	Het
Fshr	A	T	17: 88,986,161	I363N	possibly damaging	Het
Glce	G	T	9: 62,070,434	S56*	probably null	Het
Gm26727	A	T	2: 67,433,037	S49T	unknown	Het
Gm36210	T	A	7: 4,899,278	D131V	probably damaging	Het
Gm5089	T	C	14: 122,435,991	D106G	unknown	Het
Gm5622	G	T	14: 51,655,882	E89*	probably null	Het
Gm9573	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,622,633		probably benign	Het
H2afy2	T	A	10: 61,757,895	M1L	unknown	Het
H2-Eb2	C	T	17: 34,334,421	R194W	probably benign	Het
Hivep1	A	T	13: 42,159,954	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,158,821	C5*	probably null	Het
Ighv2-5	T	A	12: 113,685,599	Y78F	probably benign	Het
Il9	C	T	13: 56,480,613	V88I	probably benign	Het
Kidins220	A	G	12: 24,994,821	T163A	probably damaging	Het
Lama4	G	T	10: 39,075,495	D1079Y	probably damaging	Het
Lman1l	A	T	9: 57,615,596	H160Q	probably benign	Het
Lrrc34	T	C	3: 30,624,887	I354V	probably benign	Het
Mpeg1	A	T	19: 12,461,714	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,426,589	L307H	probably damaging	Het
Mst1	G	A	9: 108,082,828	R328H	probably damaging	Het
Nav3	C	A	10: 109,853,477	S313I	probably benign	Het
Nmt2	T	G	2: 3,284,315	S7A	probably benign	Het
Nsmce1	T	C	7: 125,469,082	S197G	probably benign	Het
Ociad2	A	G	5: 73,335,875	V4A	probably benign	Het
Olfr680-ps1	G	T	7: 105,092,798	T7K	probably benign	Het
Osmr	T	C	15: 6,821,088	D679G	possibly damaging	Het
Pappa	T	A	4: 65,189,450	F699L	probably benign	Het
Pcyox1	A	T	6: 86,394,537	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,890,737	S1224G		Het
Pkd1l3	T	A	8: 109,636,340	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,631,077	V155A	probably benign	Het
Rbm6	A	C	9: 107,853,211	D79E	probably damaging	Het
Sec31b	A	T	19: 44,518,936	S819T	probably benign	Het
Slc22a27	A	T	19: 7,926,547	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,098,589	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,365,319	S612P	probably benign	Het
Slc7a2	A	T	8: 40,915,013	I605F	probably benign	Het
Slit2	A	G	5: 48,244,683	T805A	probably benign	Het
Strbp	A	T	2: 37,624,502	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,607,009	Q155*	probably null	Het
Sybu	A	T	15: 44,677,714	N317K	possibly damaging	Het
Taok1	G	A	11: 77,571,633	S210F	probably damaging	Het
Tapbp	A	G	17: 33,920,048	D72G	possibly damaging	Het
Thbd	G	T	2: 148,406,541	T469K	probably benign	Het
Tia1	T	C	6: 86,427,688	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,840,283	F438L	probably benign	Het
Tmem235	C	T	11: 117,860,897	S49L	probably damaging	Het
Trip4	A	G	9: 65,885,221		probably benign	Het
Trrap	C	A	5: 144,803,178	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,513,848	E109G	probably benign	Het
Wdfy4	T	C	14: 33,151,578	Y258C		Het
Wdr91	T	G	6: 34,908,263	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,890,559	H459R	probably damaging	Het
Zfp936	T	A	7: 43,190,291	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,281,059	D423N	probably damaging	Het

Other mutations in Parp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Parp8	APN	13	116927323	missense	probably damaging	1.00
IGL01346:Parp8	APN	13	116895064	missense	possibly damaging	0.72
IGL01793:Parp8	APN	13	116910879	missense	probably damaging	1.00
IGL01926:Parp8	APN	13	116862302	splice site	probably benign
IGL01958:Parp8	APN	13	116876572	missense	probably benign	0.14
IGL02131:Parp8	APN	13	116910873	missense	probably benign	0.08
IGL02398:Parp8	APN	13	116910863	critical splice donor site	probably null
IGL02496:Parp8	APN	13	116862302	splice site	probably benign
IGL03135:Parp8	APN	13	116910942	missense	probably benign	0.41
IGL03143:Parp8	APN	13	116910961	splice site	probably benign
IGL03201:Parp8	APN	13	116863069	splice site	probably benign
blondi	UTSW	13	116893041	missense	possibly damaging	0.77
Heidi	UTSW	13	116862204	splice site	probably null
R0362:Parp8	UTSW	13	116924968	nonsense	probably null
R0699:Parp8	UTSW	13	116922584	missense	probably benign	0.01
R1445:Parp8	UTSW	13	117025350	splice site	probably null
R1676:Parp8	UTSW	13	116877528	missense	probably damaging	0.99
R1977:Parp8	UTSW	13	116910913	missense	probably damaging	0.96
R2019:Parp8	UTSW	13	116868432	splice site	probably benign
R2049:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2142:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2474:Parp8	UTSW	13	116893041	missense	possibly damaging	0.77
R2566:Parp8	UTSW	13	116895687	missense	possibly damaging	0.78
R3863:Parp8	UTSW	13	116894767	missense	probably benign	0.01
R4126:Parp8	UTSW	13	116868469	missense	possibly damaging	0.94
R4518:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4519:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4767:Parp8	UTSW	13	116868536	missense	probably damaging	0.99
R5355:Parp8	UTSW	13	116862204	splice site	probably null
R5633:Parp8	UTSW	13	116876580	missense	probably damaging	1.00
R5942:Parp8	UTSW	13	116869433	missense	probably benign	0.12
R5978:Parp8	UTSW	13	116895732	missense	probably benign	0.01
R6039:Parp8	UTSW	13	116877598	missense	probably damaging	1.00
R6039:Parp8	UTSW	13	116877598	missense	probably damaging	1.00
R6753:Parp8	UTSW	13	116895115	missense	possibly damaging	0.91
R7016:Parp8	UTSW	13	116895091	missense	probably damaging	1.00
R7305:Parp8	UTSW	13	116894925	missense	possibly damaging	0.95
R7314:Parp8	UTSW	13	116868460	missense	probably benign	0.01
R7360:Parp8	UTSW	13	116895771	missense	probably benign	0.02
R7526:Parp8	UTSW	13	116894805	missense	probably damaging	1.00
R8078:Parp8	UTSW	13	116924983	missense	probably damaging	1.00
R8108:Parp8	UTSW	13	116867073	nonsense	probably null
R8372:Parp8	UTSW	13	116855250	missense	probably damaging	1.00
R9005:Parp8	UTSW	13	116876590	missense	probably benign
R9072:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9073:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9351:Parp8	UTSW	13	116864245	missense	probably damaging	0.99
R9441:Parp8	UTSW	13	116893026	missense	probably damaging	1.00
R9448:Parp8	UTSW	13	116902824	nonsense	probably null
R9470:Parp8	UTSW	13	116894756	missense	probably benign	0.02
R9562:Parp8	UTSW	13	116893095	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TCAGAAATCTGGGCAATGGG -3'
(R):5'- GAAATTGGAATCCAGCAGCG -3'

Sequencing Primer
(F):5'- TCTGGGCAATGGGGGTAGAC -3'
(R):5'- GTCACATCTGGGAATGCAAAGCC -3'

Posted On

2019-05-15