Mutagenetix > Incidental Mutation

Incidental Mutation 'R0723:N4bp2l2'

63601

Institutional Source

Beutler Lab

Gene Symbol

N4bp2l2

Ensembl Gene

ENSMUSG00000029655

Gene Name

NEDD4 binding protein 2-like 2

Synonyms

zag1, 2700092H06Rik

MMRRC Submission

038905-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R0723 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

150531472-150589648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150585897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 28 (S28P)

Ref Sequence

ENSEMBL: ENSMUSP00000113895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118316] [ENSMUST00000141857] [ENSMUST00000156180]

AlphaFold

Q8JZS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000118316
AA Change: S28P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113895
Gene: ENSMUSG00000029655
AA Change: S28P

Domain	Start	End	E-Value	Type
low complexity region	128	139	N/A	INTRINSIC
coiled coil region	161	194	N/A	INTRINSIC
Pfam:Zeta_toxin	380	498	1.3e-7	PFAM
Pfam:AAA_33	396	530	5.3e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141857
AA Change: S28P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144378

Predicted Effect

probably benign
Transcript: ENSMUST00000156180

SMART Domains

Protein: ENSMUSP00000118475
Gene: ENSMUSG00000029655

Domain	Start	End	E-Value	Type
SCOP:d3aky_1	53	134	1e-5	SMART
Blast:AAA	61	120	6e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201390

Meta Mutation Damage Score

0.0813

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.0%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acbd5	T	G	2: 22,959,608 (GRCm39)	V54G	probably damaging	Het
Acin1	A	T	14: 54,902,908 (GRCm39)	S255T	probably damaging	Het
Adcy2	A	G	13: 69,147,248 (GRCm39)	L56P	probably damaging	Het
Akap6	G	T	12: 53,188,685 (GRCm39)	C2033F	probably damaging	Het
Ano5	A	G	7: 51,237,506 (GRCm39)	I777V	probably benign	Het
Arhgef28	A	G	13: 98,075,987 (GRCm39)	V1349A	probably benign	Het
Atosa	G	A	9: 74,916,733 (GRCm39)	G444E	probably damaging	Het
Bank1	T	C	3: 135,760,164 (GRCm39)		probably null	Het
C2cd5	T	C	6: 142,987,281 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,287,697 (GRCm39)	V1161A	probably damaging	Het
Car8	A	T	4: 8,169,703 (GRCm39)	D268E	probably benign	Het
Ciao3	G	A	17: 26,000,795 (GRCm39)	V406M	probably damaging	Het
Ckap5	T	A	2: 91,385,676 (GRCm39)	S175T	probably damaging	Het
Clk4	T	A	11: 51,166,320 (GRCm39)	Y67*	probably null	Het
Copg2	T	C	6: 30,792,917 (GRCm39)	I473V	possibly damaging	Het
Cstdc1	T	C	2: 148,625,282 (GRCm39)	I72T	probably damaging	Het
Cyp2s1	C	T	7: 25,508,973 (GRCm39)	V43I	probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Efemp2	T	C	19: 5,530,078 (GRCm39)	S140P	probably damaging	Het
Fat1	C	A	8: 45,479,786 (GRCm39)	T2944K	probably damaging	Het
Fgfr1	T	A	8: 26,047,784 (GRCm39)	D43E	probably damaging	Het
Fry	G	A	5: 150,419,825 (GRCm39)	A996T	probably damaging	Het
Fyb2	G	A	4: 104,873,063 (GRCm39)	V784I	probably benign	Het
Gm6507	T	A	6: 89,162,144 (GRCm39)		noncoding transcript	Het
Gm7964	T	C	7: 83,405,374 (GRCm39)		noncoding transcript	Het
Gucy2c	T	C	6: 136,704,799 (GRCm39)		probably null	Het
Hdac10	A	T	15: 89,010,621 (GRCm39)	L259Q	probably damaging	Het
Hoxd9	A	T	2: 74,529,172 (GRCm39)	D258V	probably damaging	Het
Hs3st3b1	T	C	11: 63,812,401 (GRCm39)	T105A	probably benign	Het
Hsd17b7	A	G	1: 169,783,595 (GRCm39)	L271P	probably damaging	Het
Ifnlr1	T	A	4: 135,428,524 (GRCm39)		probably benign	Het
Kif22	A	T	7: 126,633,078 (GRCm39)	M121K	probably damaging	Het
Kl	G	A	5: 150,876,566 (GRCm39)	D129N	probably damaging	Het
Mettl13	A	T	1: 162,361,999 (GRCm39)	I648N	probably damaging	Het
Mlh1	C	T	9: 111,100,540 (GRCm39)	R18H	probably damaging	Het
Mtmr14	T	C	6: 113,247,473 (GRCm39)		probably benign	Het
Myo15a	C	A	11: 60,369,803 (GRCm39)	N854K	possibly damaging	Het
Myo1h	T	C	5: 114,457,741 (GRCm39)	I84T	probably benign	Het
Myo9a	A	T	9: 59,778,383 (GRCm39)	S1380C	probably benign	Het
Myof	A	G	19: 37,969,708 (GRCm39)	V318A	probably damaging	Het
Nbr1	C	T	11: 101,467,145 (GRCm39)	Q570*	probably null	Het
Nhp2	C	T	11: 51,510,750 (GRCm39)	Q36*	probably null	Het
Or1e17	T	G	11: 73,831,096 (GRCm39)	V8G	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Poc1b	T	A	10: 98,965,457 (GRCm39)	W129R	probably damaging	Het
Potegl	T	C	2: 23,146,936 (GRCm39)		probably benign	Het
Rapgef2	C	T	3: 78,986,481 (GRCm39)	E1018K	probably benign	Het
Rgs12	T	C	5: 35,181,710 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,833,873 (GRCm39)	V280I	probably benign	Het
Snx2	A	G	18: 53,343,444 (GRCm39)	I281V	probably benign	Het
Spag5	C	A	11: 78,210,410 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,971,691 (GRCm39)	N341K	probably damaging	Het
Stxbp5	A	T	10: 9,644,617 (GRCm39)	I961N	probably damaging	Het
Tet2	T	C	3: 133,173,045 (GRCm39)	E1739G	probably benign	Het
Tmod2	A	G	9: 75,502,337 (GRCm39)	F50S	possibly damaging	Het
Tnfsf13b	T	G	8: 10,057,166 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,616,679 (GRCm39)	K16525E	possibly damaging	Het
Txnrd2	T	C	16: 18,259,629 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,711,582 (GRCm39)	Y1437*	probably null	Het
Vwf	C	A	6: 125,543,225 (GRCm39)	D170E	probably benign	Het
Wdr95	C	G	5: 149,497,513 (GRCm39)	I230M	probably damaging	Het
Xirp2	C	T	2: 67,342,559 (GRCm39)	S1600F	probably damaging	Het
Zfp12	A	G	5: 143,230,638 (GRCm39)	K322E	probably damaging	Het

Other mutations in N4bp2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:N4bp2l2	APN	5	150,585,401 (GRCm39)	missense	probably benign	0.23
IGL03022:N4bp2l2	APN	5	150,566,761 (GRCm39)	missense	probably benign	0.37
IGL03234:N4bp2l2	APN	5	150,574,191 (GRCm39)	nonsense	probably null
IGL03274:N4bp2l2	APN	5	150,584,931 (GRCm39)	missense	probably damaging	0.99
R1745:N4bp2l2	UTSW	5	150,585,424 (GRCm39)	missense	probably benign	0.00
R1994:N4bp2l2	UTSW	5	150,584,748 (GRCm39)	missense	possibly damaging	0.81
R2141:N4bp2l2	UTSW	5	150,571,001 (GRCm39)	missense	probably damaging	1.00
R2201:N4bp2l2	UTSW	5	150,585,073 (GRCm39)	missense	probably damaging	0.98
R4662:N4bp2l2	UTSW	5	150,574,160 (GRCm39)	missense	probably damaging	1.00
R4854:N4bp2l2	UTSW	5	150,585,516 (GRCm39)	missense	probably benign	0.27
R4932:N4bp2l2	UTSW	5	150,566,606 (GRCm39)	missense	probably benign	0.30
R5572:N4bp2l2	UTSW	5	150,585,755 (GRCm39)	missense	probably benign	0.22
R7125:N4bp2l2	UTSW	5	150,573,894 (GRCm39)	splice site	probably null
R7552:N4bp2l2	UTSW	5	150,585,286 (GRCm39)	nonsense	probably null
R7806:N4bp2l2	UTSW	5	150,566,715 (GRCm39)	missense	unknown
R8143:N4bp2l2	UTSW	5	150,585,670 (GRCm39)	missense	probably benign	0.00
R8163:N4bp2l2	UTSW	5	150,584,774 (GRCm39)	missense	probably damaging	1.00
R8502:N4bp2l2	UTSW	5	150,585,821 (GRCm39)	missense	probably benign	0.31
R8936:N4bp2l2	UTSW	5	150,585,362 (GRCm39)	missense	probably benign	0.25
R9104:N4bp2l2	UTSW	5	150,566,724 (GRCm39)	missense	unknown
R9236:N4bp2l2	UTSW	5	150,585,734 (GRCm39)	missense	probably benign	0.00
R9236:N4bp2l2	UTSW	5	150,585,479 (GRCm39)	missense	probably benign	0.02
R9633:N4bp2l2	UTSW	5	150,585,103 (GRCm39)	missense	probably benign	0.02
R9792:N4bp2l2	UTSW	5	150,584,897 (GRCm39)	missense	probably benign	0.00
Z1176:N4bp2l2	UTSW	5	150,585,785 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TTCCATCCTGCAAAGCTGGGGAAC -3'
(R):5'- ATTTAATAGTGAGACCGgccaagcg -3'

Sequencing Primer
(F):5'- CCCAGTTTATCACCAGGCATC -3'
(R):5'- tgggaagcagaggcagg -3'

Posted On

2013-07-30