Mutagenetix > Incidental Mutation

Incidental Mutation 'R5548:N4bp2l1'

434983

Institutional Source

Beutler Lab

Gene Symbol

N4bp2l1

Ensembl Gene

ENSMUSG00000041132

Gene Name

NEDD4 binding protein 2-like 1

Synonyms

2410024N18Rik, B230342M21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R5548 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150495108-150518288 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 150496420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 65 (R65*)

Ref Sequence

ENSEMBL: ENSMUSP00000144164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016279] [ENSMUST00000044620] [ENSMUST00000202031] [ENSMUST00000202313] [ENSMUST00000202291] [ENSMUST00000202279]

AlphaFold

Q3V2Q8

Predicted Effect

probably null
Transcript: ENSMUST00000016279
AA Change: R169*

SMART Domains

Protein: ENSMUSP00000016279
Gene: ENSMUSG00000041132
AA Change: R169*

Domain	Start	End	E-Value	Type
low complexity region	15	35	N/A	INTRINSIC
Pfam:AAA_33	42	176	6.1e-19	PFAM
Pfam:AAA_17	42	198	3.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044620

SMART Domains

Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147

Domain	Start	End	E-Value	Type
low complexity region	36	51	N/A	INTRINSIC
low complexity region	100	123	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	746	761	N/A	INTRINSIC
low complexity region	904	917	N/A	INTRINSIC
Pfam:BRCA2	982	1014	2.6e-13	PFAM
Pfam:BRCA2	1193	1225	3.9e-16	PFAM
low complexity region	1239	1252	N/A	INTRINSIC
Pfam:BRCA2	1395	1425	1.4e-13	PFAM
Pfam:BRCA2	1492	1524	1.8e-13	PFAM
Pfam:BRCA2	1624	1655	8.4e-12	PFAM
Pfam:BRCA2	1925	1957	8e-15	PFAM
Pfam:BRCA2	2005	2037	1.7e-11	PFAM
Pfam:BRCA-2_helical	2402	2588	1.3e-94	PFAM
Pfam:BRCA-2_OB1	2591	2717	5.3e-44	PFAM
Tower	2752	2793	2.37e-18	SMART
Pfam:BRCA-2_OB3	2971	3104	1.5e-49	PFAM
low complexity region	3197	3208	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201309

Predicted Effect

probably null
Transcript: ENSMUST00000202031
AA Change: R65*

SMART Domains

Protein: ENSMUSP00000144164
Gene: ENSMUSG00000041132
AA Change: R65*

Domain	Start	End	E-Value	Type
SCOP:d1ly1a_	8	71	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202313

SMART Domains

Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147

Domain	Start	End	E-Value	Type
low complexity region	36	51	N/A	INTRINSIC
low complexity region	100	123	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	746	761	N/A	INTRINSIC
low complexity region	904	917	N/A	INTRINSIC
Pfam:BRCA2	982	1014	2.6e-13	PFAM
Pfam:BRCA2	1193	1225	3.9e-16	PFAM
low complexity region	1239	1252	N/A	INTRINSIC
Pfam:BRCA2	1395	1425	1.4e-13	PFAM
Pfam:BRCA2	1492	1524	1.8e-13	PFAM
Pfam:BRCA2	1624	1655	8.4e-12	PFAM
Pfam:BRCA2	1925	1957	8e-15	PFAM
Pfam:BRCA2	2005	2037	1.7e-11	PFAM
Pfam:BRCA-2_helical	2402	2588	1.3e-94	PFAM
Pfam:BRCA-2_OB1	2591	2717	5.3e-44	PFAM
Tower	2752	2793	2.37e-18	SMART
Pfam:BRCA-2_OB3	2971	3104	1.5e-49	PFAM
low complexity region	3197	3208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202291

Predicted Effect

probably benign
Transcript: ENSMUST00000202279

SMART Domains

Protein: ENSMUSP00000143792
Gene: ENSMUSG00000041132

Domain	Start	End	E-Value	Type
low complexity region	15	35	N/A	INTRINSIC
SCOP:d1l4ua_	42	58	1e-4	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,849,863 (GRCm39)	D191G	probably benign	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Cdh12	C	T	15: 21,492,740 (GRCm39)	T253I	probably damaging	Het
Cox4i2	C	T	2: 152,599,011 (GRCm39)	T56I	possibly damaging	Het
Cpsf1	A	C	15: 76,481,527 (GRCm39)	D1141E	possibly damaging	Het
Dennd5b	T	C	6: 148,920,847 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,128,672 (GRCm39)	D1194E	probably damaging	Het
Dst	C	A	1: 34,228,409 (GRCm39)	H1676N	probably benign	Het
Eif4a3l1	T	C	6: 136,306,568 (GRCm39)	V343A	probably damaging	Het
Fitm1	A	G	14: 55,813,154 (GRCm39)	T6A	probably benign	Het
Galnt5	T	A	2: 57,904,922 (GRCm39)	V495E	probably damaging	Het
Gtf2h2	C	A	13: 100,617,544 (GRCm39)	R206L	possibly damaging	Het
Heatr5a	A	T	12: 52,005,734 (GRCm39)	Y80*	probably null	Het
Il17ra	A	G	6: 120,455,434 (GRCm39)	R348G	probably benign	Het
Mmp28	A	T	11: 83,334,733 (GRCm39)	Y340*	probably null	Het
Mrgprb8	A	T	7: 48,038,778 (GRCm39)	T150S	probably benign	Het
Ms4a10	A	T	19: 10,945,484 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Mybbp1a	T	C	11: 72,336,998 (GRCm39)	L578P	probably damaging	Het
Nhsl3	GGTG	GGTGTG	4: 129,117,773 (GRCm39)		probably null	Het
Nup188	T	A	2: 30,216,505 (GRCm39)	Y770N	probably damaging	Het
Or8b3b	T	C	9: 38,584,600 (GRCm39)	I60V	probably benign	Het
Or8s5	T	A	15: 98,238,253 (GRCm39)	T206S	probably benign	Het
Pbrm1	T	A	14: 30,827,381 (GRCm39)	C1257S	probably damaging	Het
Pcdh8	T	C	14: 80,004,942 (GRCm39)	T1028A	probably damaging	Het
Pramel16	C	T	4: 143,676,550 (GRCm39)	E185K	probably benign	Het
Qars1	C	T	9: 108,390,117 (GRCm39)	P348S	possibly damaging	Het
Qrfpr	T	A	3: 36,276,075 (GRCm39)	Q105L	possibly damaging	Het
Slc10a5	A	T	3: 10,399,377 (GRCm39)	Y428N	probably benign	Het
Slc16a5	A	T	11: 115,360,630 (GRCm39)	Y271F	probably benign	Het
Slc1a4	T	A	11: 20,254,429 (GRCm39)	Q479L	possibly damaging	Het
Slc38a1	C	T	15: 96,488,355 (GRCm39)	G143S	probably damaging	Het
Susd1	G	A	4: 59,369,577 (GRCm39)	T364M	probably benign	Het
Tmem132c	T	A	5: 127,628,587 (GRCm39)	Y496*	probably null	Het
Tmem63b	A	G	17: 45,975,884 (GRCm39)	I523T	probably damaging	Het
Tnrc6c	T	C	11: 117,651,669 (GRCm39)	S1731P	possibly damaging	Het
Ttll3	T	A	6: 113,370,078 (GRCm39)	W139R	probably damaging	Het
Ubr4	C	T	4: 139,187,401 (GRCm39)	T3823M	probably damaging	Het
Vangl1	T	A	3: 102,091,762 (GRCm39)	D108V	possibly damaging	Het
Vmn1r120	T	C	7: 20,787,482 (GRCm39)	I76M	probably benign	Het
Wdr17	A	G	8: 55,156,886 (GRCm39)	Y17H	probably damaging	Het
Xkr4	C	T	1: 3,287,153 (GRCm39)	A346T	probably damaging	Het
Zfp267	C	G	3: 36,219,640 (GRCm39)	H554Q	possibly damaging	Het
Zfp600	T	A	4: 146,133,019 (GRCm39)	S562R	possibly damaging	Het

Other mutations in N4bp2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01737:N4bp2l1	APN	5	150,517,781 (GRCm39)	missense	possibly damaging	0.46
IGL02048:N4bp2l1	APN	5	150,500,103 (GRCm39)	critical splice donor site	probably null
R0625:N4bp2l1	UTSW	5	150,500,210 (GRCm39)	nonsense	probably null
R0763:N4bp2l1	UTSW	5	150,517,869 (GRCm39)	missense	possibly damaging	0.66
R2372:N4bp2l1	UTSW	5	150,496,246 (GRCm39)	missense	probably damaging	1.00
R7311:N4bp2l1	UTSW	5	150,496,389 (GRCm39)	missense	probably damaging	1.00
R7414:N4bp2l1	UTSW	5	150,499,758 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCCATTAATATCCTTGGTGG -3'
(R):5'- ACAACATATGCTTCTGCCTGG -3'

Sequencing Primer
(F):5'- CCATTAATATCCTTGGTGGTGGCC -3'
(R):5'- GTCTCCTGAGGCAGAGCAGTAG -3'

Posted On

2016-10-24