Mutagenetix > Incidental Mutation

Incidental Mutation 'R9464:N4bp1'

715069

Institutional Source

Beutler Lab

Gene Symbol

N4bp1

Ensembl Gene

ENSMUSG00000031652

Gene Name

NEDD4 binding protein 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9464 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87567764-87612489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87587165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 591 (V591A)

Ref Sequence

ENSEMBL: ENSMUSP00000034074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034074]

AlphaFold

Q6A037

Predicted Effect

probably damaging
Transcript: ENSMUST00000034074
AA Change: V591A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: V591A

Domain	Start	End	E-Value	Type
low complexity region	29	43	N/A	INTRINSIC
low complexity region	375	390	N/A	INTRINSIC
low complexity region	548	571	N/A	INTRINSIC
Pfam:RNase_Zc3h12a	614	767	4.7e-59	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,865 (GRCm39)	F45S	possibly damaging	Het
Abca4	A	G	3: 121,913,714 (GRCm39)	T897A	probably benign	Het
Abhd5	A	T	9: 122,208,029 (GRCm39)	T308S	probably benign	Het
Abi2	G	A	1: 60,478,100 (GRCm39)		probably null	Het
Abi3bp	C	A	16: 56,409,046 (GRCm39)	T283N	possibly damaging	Het
Adcy2	A	C	13: 68,882,776 (GRCm39)	N320K	probably damaging	Het
Adcy3	T	A	12: 4,256,939 (GRCm39)	M819K	probably benign	Het
Anapc5	A	G	5: 122,940,209 (GRCm39)	V354A	probably benign	Het
Card14	A	G	11: 119,208,031 (GRCm39)	I34V	probably benign	Het
Ccdc153	A	T	9: 44,157,011 (GRCm39)	T118S	possibly damaging	Het
Champ1	G	A	8: 13,929,114 (GRCm39)	G424D	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Ctsr	T	A	13: 61,307,295 (GRCm39)	I334F	possibly damaging	Het
Dlgap1	A	T	17: 70,823,964 (GRCm39)	Q316H	probably benign	Het
Dnajc18	A	C	18: 35,830,166 (GRCm39)	C80G	probably damaging	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fancc	T	C	13: 63,550,769 (GRCm39)	K18E	possibly damaging	Het
Fbxo46	G	C	7: 18,870,791 (GRCm39)	R470P	probably damaging	Het
Fbxw20	A	C	9: 109,050,399 (GRCm39)	W409G	probably damaging	Het
Gcnt4	C	T	13: 97,083,493 (GRCm39)	T263M	probably benign	Het
Gfy	T	C	7: 44,827,251 (GRCm39)	T282A	probably benign	Het
Glb1l3	A	G	9: 26,761,351 (GRCm39)	M227T	probably damaging	Het
Gm8267	T	C	14: 44,960,346 (GRCm39)	E133G	probably damaging	Het
Hmcn1	A	C	1: 150,599,248 (GRCm39)	I1556R	possibly damaging	Het
Ifnl3	T	C	7: 28,223,287 (GRCm39)	V102A	probably damaging	Het
Kifc3	C	T	8: 95,830,622 (GRCm39)	R548Q	possibly damaging	Het
Lonrf1	T	A	8: 36,690,024 (GRCm39)	Q678L	probably benign	Het
Map2	A	G	1: 66,454,497 (GRCm39)	E1129G	probably damaging	Het
Mug2	C	A	6: 122,028,690 (GRCm39)	D561E	probably benign	Het
Myo3a	G	T	2: 22,232,383 (GRCm39)		probably benign	Het
Nckap5	C	T	1: 125,952,494 (GRCm39)	G1353R	probably benign	Het
Nek10	T	A	14: 14,937,766 (GRCm38)	H828Q	probably benign	Het
Or52n3	T	A	7: 104,530,050 (GRCm39)	C45*	probably null	Het
Or5k1b	G	T	16: 58,581,202 (GRCm39)	C112*	probably null	Het
Pclo	T	C	5: 14,816,830 (GRCm39)	S1297P		Het
Pkhd1l1	T	C	15: 44,343,009 (GRCm39)	I162T	probably damaging	Het
Plaat5	A	G	19: 7,591,923 (GRCm39)	E113G	probably damaging	Het
Plekhg2	T	C	7: 28,062,297 (GRCm39)	E541G	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,149 (GRCm39)	N220D	possibly damaging	Het
Prss3l	A	G	6: 41,420,486 (GRCm39)	V80A	probably benign	Het
Psmd4	A	G	3: 94,940,735 (GRCm39)	S343P	probably benign	Het
Rnf213	A	T	11: 119,354,406 (GRCm39)	H4063L		Het
Rnf40	T	C	7: 127,190,954 (GRCm39)	V313A	probably benign	Het
Ryr2	T	A	13: 11,752,680 (GRCm39)	E1880D	probably benign	Het
Slc30a4	A	T	2: 122,527,200 (GRCm39)	L398I	probably damaging	Het
Sp100	A	T	1: 85,624,751 (GRCm39)	N380I	probably damaging	Het
Speer4d	T	G	5: 15,828,393 (GRCm39)	L175W	probably damaging	Het
Srcap	T	A	7: 127,137,273 (GRCm39)	I985K	possibly damaging	Het
Tesk2	T	C	4: 116,658,443 (GRCm39)		probably null	Het
Tgfbrap1	A	G	1: 43,114,608 (GRCm39)	V164A	probably damaging	Het
Tlk1	T	C	2: 70,544,341 (GRCm39)	T765A	probably benign	Het
Tmem207	A	T	16: 26,345,413 (GRCm39)	C18S		Het
Tph2	A	T	10: 114,915,992 (GRCm39)	C394S	probably benign	Het
Trrap	C	A	5: 144,763,517 (GRCm39)	H2470N	probably damaging	Het
Ttc21b	T	C	2: 66,053,866 (GRCm39)	Y771C	probably damaging	Het
Uchl3	T	C	14: 101,904,451 (GRCm39)	F122L	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn2r117	G	T	17: 23,696,578 (GRCm39)	D276E	probably benign	Het
Vps13c	T	C	9: 67,858,674 (GRCm39)	L2708P	probably damaging	Het
Vwa3a	T	A	7: 120,385,682 (GRCm39)	S675T	possibly damaging	Het
Zfp473	A	G	7: 44,383,766 (GRCm39)	L189P	probably benign	Het
Zfp956	T	A	6: 47,941,041 (GRCm39)	C467S	probably damaging	Het
Zgrf1	T	A	3: 127,377,741 (GRCm39)	N995K	probably benign	Het

Other mutations in N4bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00653:N4bp1	APN	8	87,588,354 (GRCm39)	missense	probably benign	0.01
IGL00659:N4bp1	APN	8	87,588,430 (GRCm39)	missense	probably damaging	1.00
IGL01484:N4bp1	APN	8	87,571,400 (GRCm39)	missense	probably damaging	0.99
IGL01788:N4bp1	APN	8	87,587,624 (GRCm39)	missense	probably benign	0.06
IGL01989:N4bp1	APN	8	87,575,115 (GRCm39)	missense	probably damaging	1.00
IGL02619:N4bp1	APN	8	87,587,529 (GRCm39)	missense	probably benign	0.01
IGL03290:N4bp1	APN	8	87,575,161 (GRCm39)	missense	probably benign	0.31
Acorn	UTSW	8	87,588,534 (GRCm39)	nonsense	probably null
oak	UTSW	8	87,588,424 (GRCm39)	nonsense	probably null
Squirrel	UTSW	8	87,578,337 (GRCm39)	missense	probably damaging	1.00
Stash	UTSW	8	87,587,052 (GRCm39)	critical splice donor site	probably null
walnut	UTSW	8	87,573,540 (GRCm39)	missense	probably damaging	1.00
winter	UTSW	8	87,588,311 (GRCm39)	missense	probably benign
R0760:N4bp1	UTSW	8	87,573,540 (GRCm39)	missense	probably damaging	1.00
R1202:N4bp1	UTSW	8	87,571,515 (GRCm39)	missense	probably benign	0.02
R1653:N4bp1	UTSW	8	87,571,576 (GRCm39)	missense	probably benign	0.10
R1878:N4bp1	UTSW	8	87,588,169 (GRCm39)	missense	probably damaging	0.98
R2325:N4bp1	UTSW	8	87,575,088 (GRCm39)	missense	probably damaging	1.00
R2442:N4bp1	UTSW	8	87,588,668 (GRCm39)	missense	probably damaging	1.00
R2867:N4bp1	UTSW	8	87,588,033 (GRCm39)	missense	probably benign	0.02
R2867:N4bp1	UTSW	8	87,588,033 (GRCm39)	missense	probably benign	0.02
R2926:N4bp1	UTSW	8	87,588,424 (GRCm39)	nonsense	probably null
R3625:N4bp1	UTSW	8	87,578,337 (GRCm39)	missense	probably damaging	1.00
R3689:N4bp1	UTSW	8	87,587,184 (GRCm39)	missense	probably damaging	1.00
R3863:N4bp1	UTSW	8	87,587,055 (GRCm39)	missense	probably benign	0.13
R4872:N4bp1	UTSW	8	87,587,676 (GRCm39)	missense	probably benign	0.01
R4902:N4bp1	UTSW	8	87,588,311 (GRCm39)	missense	probably benign
R4965:N4bp1	UTSW	8	87,578,314 (GRCm39)	missense	possibly damaging	0.69
R5070:N4bp1	UTSW	8	87,587,165 (GRCm39)	missense	probably damaging	0.98
R5392:N4bp1	UTSW	8	87,587,048 (GRCm39)	splice site	probably null
R5719:N4bp1	UTSW	8	87,578,312 (GRCm39)	missense	probably damaging	1.00
R6280:N4bp1	UTSW	8	87,579,794 (GRCm39)	missense	possibly damaging	0.68
R6292:N4bp1	UTSW	8	87,579,867 (GRCm39)	missense	probably damaging	0.99
R6350:N4bp1	UTSW	8	87,588,596 (GRCm39)	missense	probably damaging	0.99
R6543:N4bp1	UTSW	8	87,588,534 (GRCm39)	nonsense	probably null
R6965:N4bp1	UTSW	8	87,571,461 (GRCm39)	missense	probably damaging	1.00
R7120:N4bp1	UTSW	8	87,587,495 (GRCm39)	missense	probably benign	0.01
R7172:N4bp1	UTSW	8	87,587,052 (GRCm39)	critical splice donor site	probably null
R7791:N4bp1	UTSW	8	87,579,831 (GRCm39)	missense	probably damaging	0.99
R8084:N4bp1	UTSW	8	87,587,636 (GRCm39)	missense	probably benign	0.28
R8220:N4bp1	UTSW	8	87,571,315 (GRCm39)	makesense	probably null
R8523:N4bp1	UTSW	8	87,579,789 (GRCm39)	missense	probably damaging	1.00
R8753:N4bp1	UTSW	8	87,575,085 (GRCm39)	missense	probably damaging	1.00
R9445:N4bp1	UTSW	8	87,587,238 (GRCm39)	nonsense	probably null
X0067:N4bp1	UTSW	8	87,588,548 (GRCm39)	missense	probably damaging	1.00
Z1177:N4bp1	UTSW	8	87,579,787 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGATTCACTGGAACACAAAG -3'
(R):5'- AATACGAAGCCTGCCTGTG -3'

Sequencing Primer
(F):5'- GATTCACTGGAACACAAAGGACAGTC -3'
(R):5'- TGAAAAGCGTTCTGGCTCC -3'

Posted On

2022-06-15