Mutagenetix > Incidental Mutation

Incidental Mutation 'R8732:Paxip1'

662794

Institutional Source

Beutler Lab

Gene Symbol

Paxip1

Ensembl Gene

ENSMUSG00000002221

Gene Name

PAX interacting (with transcription-activation domain) protein 1

Synonyms

D5Ertd149e, PTIP

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27740080-27791691 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27744543 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 966 (Y966H)

Ref Sequence

ENSEMBL: ENSMUSP00000002291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002291]

AlphaFold

Q6NZQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000002291
AA Change: Y966H

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

SMART Domains

Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: Y966H

Domain	Start	End	E-Value	Type
BRCT	10	83	6.72e1	SMART
BRCT	96	173	8.83e-15	SMART
low complexity region	189	208	N/A	INTRINSIC
low complexity region	214	223	N/A	INTRINSIC
coiled coil region	489	547	N/A	INTRINSIC
BRCT	590	671	5.74e-14	SMART
BRCT	690	766	1.67e-15	SMART
BRCT	845	924	4.03e-9	SMART
BRCT	957	1046	3.54e-5	SMART

Meta Mutation Damage Score

0.1290

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: This gene encodes a nuclear-localized protein that contains six BRCT1 (C-terminal of breast cancer susceptibility protein) domains. The encoded protein is involved in the repair of DNA double-strand breaks and is necessary for progression through cell division. The protein also functions in the regulation of transcription by recruiting histone methyltransferases to gene promoters bound by the sequence-specific transcription factor paired box protein 2 (Pax2). [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice are developmentally retarded and embyronic lethal by E9.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,828,146	N82K	probably damaging	Het
Ankrd36	T	A	11: 5,628,906	S57T	possibly damaging	Het
Aoc3	A	G	11: 101,331,817	N293S	probably benign	Het
Aup1	A	T	6: 83,056,621	H302L	probably damaging	Het
Bptf	G	A	11: 107,040,380	R277W	probably damaging	Het
Cald1	A	G	6: 34,758,011	I346V	unknown	Het
Cd44	T	C	2: 102,834,300	T519A	possibly damaging	Het
Cela1	A	G	15: 100,682,885		probably null	Het
Ces2g	T	C	8: 104,962,563	V57A	possibly damaging	Het
Cpt1b	G	C	15: 89,424,425	T100S	probably benign	Het
D6Wsu163e	A	T	6: 126,955,896	I361F	possibly damaging	Het
Dock5	A	T	14: 67,846,000	D153E	possibly damaging	Het
Dync2h1	G	T	9: 7,168,326	R430S	probably damaging	Het
Eml5	C	T	12: 98,815,959	G1405R	probably damaging	Het
Ergic2	G	A	6: 148,201,477	A91V	probably damaging	Het
Fancl	A	T	11: 26,469,754	I336L	probably benign	Het
Fpr3	A	G	17: 17,970,961	T165A	possibly damaging	Het
Gm11639	T	A	11: 104,804,274	F1730L	probably benign	Het
Gon4l	A	G	3: 88,899,984	I1662V	possibly damaging	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Hdac4	C	A	1: 91,947,517	A911S	probably damaging	Het
Ighd	T	C	12: 113,414,563	N139D		Het
Klhl22	T	A	16: 17,771,826	L117Q	probably damaging	Het
Kntc1	A	G	5: 123,790,117	S1226G	probably benign	Het
Lama5	A	T	2: 180,186,688	C2126S	probably damaging	Het
Ldlr	A	G	9: 21,739,689	I468V	probably benign	Het
Lmtk3	G	A	7: 45,798,288	A1253T	unknown	Het
Lta	T	A	17: 35,204,069	N93Y	probably damaging	Het
Macf1	A	T	4: 123,509,770		probably null	Het
Mink1	A	G	11: 70,610,076		probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Ntpcr	A	G	8: 125,745,335	M132V	probably benign	Het
Olfr298	A	G	7: 86,488,853	S233P	probably damaging	Het
Olfr664	A	G	7: 104,733,908	M152T	probably benign	Het
Olfr851	T	C	9: 19,496,802	I18T	probably benign	Het
Padi2	A	G	4: 140,933,279	I357V	probably benign	Het
Pax7	G	T	4: 139,779,609	H372Q	probably benign	Het
Pde4b	A	C	4: 102,555,625	D199A	probably null	Het
Pkd1l2	T	C	8: 117,065,572	N494D	probably benign	Het
Prdm2	G	T	4: 143,136,010	Q237K	probably benign	Het
Prune2	T	C	19: 17,120,405	L1091P	probably damaging	Het
Rab9	C	T	X: 166,457,758	D186N	probably benign	Het
Rassf5	A	G	1: 131,178,527	*414Q	probably null	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rrp9	C	A	9: 106,483,189	T238K	probably benign	Het
Slc44a2	A	G	9: 21,348,586	D630G	probably benign	Het
Slc7a9	A	G	7: 35,457,018	D295G	probably benign	Het
Slco3a1	A	T	7: 74,284,306	M706K	possibly damaging	Het
Spag9	T	C	11: 94,071,688		probably null	Het
Stam2	A	T	2: 52,700,168	Y394N	probably damaging	Het
Stard9	T	C	2: 120,679,961	L341P	probably damaging	Het
Steap3	A	T	1: 120,243,894	H160Q	probably damaging	Het
Stxbp5l	A	T	16: 37,241,447	C334S	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem74	A	T	15: 43,868,060		probably benign	Het
Ttn	T	C	2: 76,707,136	K34816R	possibly damaging	Het
Ttn	T	A	2: 76,797,391	N14736I	probably damaging	Het
Vmn1r183	A	G	7: 24,055,465	Q231R	possibly damaging	Het
Vmn1r235	A	G	17: 21,262,177	T255A	probably damaging	Het
Wasl	A	T	6: 24,619,210	I437K	unknown	Het
Wdr34	T	A	2: 30,032,208	T414S	possibly damaging	Het
Ywhae	A	G	11: 75,751,943	N43D	probably damaging	Het
Zfp583	A	T	7: 6,317,211	Y267*	probably null	Het
Zfp608	C	T	18: 54,988,000	G172R	probably benign	Het

Other mutations in Paxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Paxip1	APN	5	27772552	utr 3 prime	probably benign
IGL01705:Paxip1	APN	5	27748859	missense	probably damaging	1.00
IGL01844:Paxip1	APN	5	27751038	missense	probably benign	0.17
IGL02143:Paxip1	APN	5	27775598	utr 3 prime	probably benign
IGL02863:Paxip1	APN	5	27759395	missense	probably benign	0.30
IGL02903:Paxip1	APN	5	27748872	missense	probably damaging	1.00
IGL03008:Paxip1	APN	5	27752766	missense	probably benign	0.01
BB003:Paxip1	UTSW	5	27791209	missense	unknown
BB013:Paxip1	UTSW	5	27791209	missense	unknown
R0128:Paxip1	UTSW	5	27744185	splice site	probably benign
R0130:Paxip1	UTSW	5	27744185	splice site	probably benign
R0331:Paxip1	UTSW	5	27765232	missense	probably damaging	0.96
R0357:Paxip1	UTSW	5	27758623	splice site	probably benign
R0370:Paxip1	UTSW	5	27760086	missense	probably damaging	1.00
R0625:Paxip1	UTSW	5	27765942	nonsense	probably null
R1969:Paxip1	UTSW	5	27744136	missense	probably damaging	1.00
R2214:Paxip1	UTSW	5	27742501	missense	probably damaging	1.00
R3424:Paxip1	UTSW	5	27775673	utr 3 prime	probably benign
R3808:Paxip1	UTSW	5	27772029	unclassified	probably benign
R3809:Paxip1	UTSW	5	27772029	unclassified	probably benign
R3881:Paxip1	UTSW	5	27748839	missense	probably damaging	1.00
R3882:Paxip1	UTSW	5	27748839	missense	probably damaging	1.00
R4685:Paxip1	UTSW	5	27761677	splice site	probably null
R4692:Paxip1	UTSW	5	27772097	unclassified	probably benign
R4776:Paxip1	UTSW	5	27765206	missense	probably damaging	1.00
R5093:Paxip1	UTSW	5	27766284	missense	unknown
R5388:Paxip1	UTSW	5	27781455	utr 3 prime	probably benign
R5397:Paxip1	UTSW	5	27772004	unclassified	probably benign
R5553:Paxip1	UTSW	5	27775639	utr 3 prime	probably benign
R6151:Paxip1	UTSW	5	27761618	missense	probably damaging	1.00
R6216:Paxip1	UTSW	5	27766173	missense	unknown
R6276:Paxip1	UTSW	5	27761668	missense	probably damaging	1.00
R6290:Paxip1	UTSW	5	27765578	splice site	probably null
R6584:Paxip1	UTSW	5	27758452	missense	probably damaging	0.98
R6688:Paxip1	UTSW	5	27744137	missense	probably benign	0.18
R6908:Paxip1	UTSW	5	27791224	missense	possibly damaging	0.90
R6981:Paxip1	UTSW	5	27765768	nonsense	probably null
R7252:Paxip1	UTSW	5	27760086	missense	probably damaging	0.96
R7385:Paxip1	UTSW	5	27781420	critical splice donor site	probably null
R7585:Paxip1	UTSW	5	27772004	missense	unknown
R7665:Paxip1	UTSW	5	27765738	missense	unknown
R7926:Paxip1	UTSW	5	27791209	missense	unknown
R8169:Paxip1	UTSW	5	27772095	missense	unknown
R8335:Paxip1	UTSW	5	27766124	missense	unknown
R8790:Paxip1	UTSW	5	27772080	missense	unknown
X0066:Paxip1	UTSW	5	27766018	missense	unknown
Z1176:Paxip1	UTSW	5	27783729	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGCAGGTCGTTCTCACAG -3'
(R):5'- CAGTAGAGCAGGTGTTCTCTAC -3'

Sequencing Primer
(F):5'- AATGATCTCTGAAAGACTCTAGGG -3'
(R):5'- AGCAGGTGTTCTCTACTTTAATTTTG -3'

Posted On

2021-03-08