Mutagenetix > Incidental Mutation

Incidental Mutation 'R9176:Neurl1b'

696712

Institutional Source

Beutler Lab

Gene Symbol

Neurl1b

Ensembl Gene

ENSMUSG00000034413

Gene Name

neuralized E3 ubiquitin protein ligase 1B

Synonyms

EG240055, Neur2, C230078M08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R9176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26633833-26665295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26660055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 425 (T425I)

Ref Sequence

ENSEMBL: ENSMUSP00000051481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053020] [ENSMUST00000182897] [ENSMUST00000183077]

AlphaFold

Q0MW30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053020
AA Change: T425I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051481
Gene: ENSMUSG00000034413
AA Change: T425I

Domain	Start	End	E-Value	Type
NEUZ	36	159	5.7e-41	SMART
Blast:NEUZ	161	192	1e-12	BLAST
Blast:NEUZ	219	245	1e-8	BLAST
NEUZ	268	390	7.66e-24	SMART
low complexity region	436	449	N/A	INTRINSIC
low complexity region	457	486	N/A	INTRINSIC
RING	494	533	2.38e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182897
AA Change: T243I

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138417
Gene: ENSMUSG00000034413
AA Change: T243I

Domain	Start	End	E-Value	Type
Blast:NEUZ	37	63	5e-9	BLAST
Pfam:Neuralized	88	156	2.8e-14	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	304	N/A	INTRINSIC
RING	312	351	2.38e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183077
AA Change: T194I

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

SMART Domains

Protein: ENSMUSP00000138178
Gene: ENSMUSG00000034413
AA Change: T194I

Domain	Start	End	E-Value	Type
NEUZ	36	159	5.7e-41	SMART
Blast:NEUZ	161	225	2e-14	BLAST
low complexity region	226	255	N/A	INTRINSIC
RING	263	302	2.38e-2	SMART

Meta Mutation Damage Score

0.0703

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	C	5: 146,121,004 (GRCm39)	D119G	probably damaging	Het
1700123K08Rik	T	C	5: 138,561,155 (GRCm39)	D169G	probably damaging	Het
Abcd2	T	G	15: 91,075,623 (GRCm39)	R63S	probably benign	Het
Ankrd55	T	C	13: 112,459,610 (GRCm39)	V68A	possibly damaging	Het
Avil	T	C	10: 126,852,248 (GRCm39)	Y678H	probably damaging	Het
Bltp1	T	A	3: 37,010,852 (GRCm39)	V1750E	possibly damaging	Het
Cd300ld2	C	A	11: 114,904,772 (GRCm39)	E32*	probably null	Het
Chuk	A	T	19: 44,076,442 (GRCm39)	L423Q	probably damaging	Het
Cisd3	A	G	11: 97,579,127 (GRCm39)	T90A	probably damaging	Het
Cmpk2	T	A	12: 26,524,027 (GRCm39)	S275T	probably benign	Het
Cntnap5c	T	A	17: 58,620,730 (GRCm39)	N936K	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col4a4	G	T	1: 82,463,349 (GRCm39)	P1047Q	unknown	Het
Col6a4	A	G	9: 105,938,755 (GRCm39)	L1321P	probably damaging	Het
Crat	A	G	2: 30,297,892 (GRCm39)	F211L	probably damaging	Het
Csmd3	T	C	15: 47,864,937 (GRCm39)	Q27R		Het
Dapk1	T	C	13: 60,866,262 (GRCm39)	V205A	probably damaging	Het
Ddx20	T	C	3: 105,586,158 (GRCm39)	N729S	probably benign	Het
Derl2	A	G	11: 70,904,376 (GRCm39)	V139A	possibly damaging	Het
Dscam	C	T	16: 96,486,553 (GRCm39)	D1041N	probably benign	Het
Fbxo2	A	T	4: 148,250,147 (GRCm39)	R226W	probably damaging	Het
Fhip1b	A	C	7: 105,030,585 (GRCm39)	H180Q	probably benign	Het
Fhip2b	T	C	14: 70,826,540 (GRCm39)	K183E	probably benign	Het
Gpr19	A	G	6: 134,846,718 (GRCm39)	S322P	probably damaging	Het
Gvin2	T	C	7: 105,551,262 (GRCm39)	K597E	possibly damaging	Het
Herc6	A	G	6: 57,636,663 (GRCm39)	N793S	probably benign	Het
Ikbke	A	T	1: 131,191,025 (GRCm39)	S563T	probably benign	Het
Il1r2	T	C	1: 40,144,478 (GRCm39)	L55P	probably damaging	Het
Klhl8	C	A	5: 104,012,111 (GRCm39)	A575S	probably benign	Het
Lims1	T	G	10: 58,254,265 (GRCm39)	C340G	probably damaging	Het
Loxl3	G	A	6: 83,026,292 (GRCm39)	C460Y	probably damaging	Het
Mapk9	T	A	11: 49,763,565 (GRCm39)	L152*	probably null	Het
Mef2d	T	C	3: 88,066,463 (GRCm39)	V144A	possibly damaging	Het
Mertk	A	G	2: 128,620,892 (GRCm39)	D578G	possibly damaging	Het
Mettl1	C	A	10: 126,881,250 (GRCm39)	Q254K	probably benign	Het
Naip2	T	C	13: 100,298,707 (GRCm39)	E443G	probably damaging	Het
Ndor1	A	G	2: 25,138,241 (GRCm39)	F484L	probably damaging	Het
Nomo1	G	A	7: 45,730,828 (GRCm39)	V1104M	possibly damaging	Het
Or13a19	G	T	7: 139,903,121 (GRCm39)	G170C	probably damaging	Het
Or13p8	T	A	4: 118,583,850 (GRCm39)	Y135*	probably null	Het
Or4c10b	T	C	2: 89,711,515 (GRCm39)	V115A	probably benign	Het
Or5b95	A	G	19: 12,657,600 (GRCm39)	M43V	probably benign	Het
Or5p57	A	G	7: 107,665,246 (GRCm39)	V223A	probably benign	Het
Or8g20	T	A	9: 39,396,247 (GRCm39)	M98L	probably benign	Het
Or9i2	A	G	19: 13,815,796 (GRCm39)	V247A	probably damaging	Het
Parp4	A	G	14: 56,873,274 (GRCm39)	K1173E	possibly damaging	Het
Phkb	T	A	8: 86,697,623 (GRCm39)	N477K	probably damaging	Het
Plekha7	T	G	7: 115,739,926 (GRCm39)	I812L	possibly damaging	Het
Plxnb1	A	G	9: 108,941,651 (GRCm39)	T1711A	probably damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Pomt2	T	A	12: 87,194,451 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,316,123 (GRCm39)	H671R	probably damaging	Het
Prkca	G	A	11: 107,870,244 (GRCm39)	R15C	possibly damaging	Het
Prkch	T	A	12: 73,746,968 (GRCm39)	N282K	probably damaging	Het
Ptpn6	T	C	6: 124,702,249 (GRCm39)	R385G	probably benign	Het
Rad21	A	T	15: 51,841,455 (GRCm39)	M87K	probably damaging	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,103,689 (GRCm39)	V1857E	probably damaging	Het
Shprh	A	G	10: 11,036,320 (GRCm39)	T386A	probably benign	Het
Slco1b2	T	C	6: 141,598,229 (GRCm39)	L94P	probably damaging	Het
Snx29	A	G	16: 11,236,728 (GRCm39)	N90D	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tbc1d5	T	C	17: 51,089,363 (GRCm39)	T584A	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tpp2	A	G	1: 44,031,553 (GRCm39)	N1124D	probably null	Het
Trpv1	A	T	11: 73,130,481 (GRCm39)	T196S	probably benign	Het
Ulk4	T	C	9: 120,974,128 (GRCm39)	E968G	probably benign	Het
Zbtb8a	G	T	4: 129,254,221 (GRCm39)	T91K	probably damaging	Het
Zfp317	T	A	9: 19,559,163 (GRCm39)	V459E	probably damaging	Het
Zfp790	A	G	7: 29,529,387 (GRCm39)	T691A	probably benign	Het

Other mutations in Neurl1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Neurl1b	APN	17	26,651,152 (GRCm39)	missense	probably damaging	0.99
R0530:Neurl1b	UTSW	17	26,660,519 (GRCm39)	splice site	probably null
R1819:Neurl1b	UTSW	17	26,657,674 (GRCm39)	missense	probably benign	0.01
R2359:Neurl1b	UTSW	17	26,660,569 (GRCm39)	missense	probably benign	0.03
R3720:Neurl1b	UTSW	17	26,633,949 (GRCm39)	missense	probably damaging	1.00
R4574:Neurl1b	UTSW	17	26,650,860 (GRCm39)	missense	probably benign	0.19
R7508:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7509:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7642:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7654:Neurl1b	UTSW	17	26,657,671 (GRCm39)	missense	probably benign	0.00
R7669:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7670:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7722:Neurl1b	UTSW	17	26,660,132 (GRCm39)	missense	probably benign
R8069:Neurl1b	UTSW	17	26,651,201 (GRCm39)	missense	probably damaging	1.00
R8343:Neurl1b	UTSW	17	26,650,965 (GRCm39)	missense	probably damaging	1.00
R8711:Neurl1b	UTSW	17	26,660,747 (GRCm39)	missense	probably damaging	1.00
R8770:Neurl1b	UTSW	17	26,650,887 (GRCm39)	missense	probably damaging	1.00
R9405:Neurl1b	UTSW	17	26,658,265 (GRCm39)	missense	probably benign	0.19
R9406:Neurl1b	UTSW	17	26,657,820 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGCTCTTTGGGTTTGGCC -3'
(R):5'- GCACCCATGTCATGAGGAAGTC -3'

Sequencing Primer
(F):5'- CCCAAGGCTGTTTTTGAAATAGGAG -3'
(R):5'- AGGAAGTCCTGCCCCTC -3'

Posted On

2022-02-07