Mutagenetix > Incidental Mutation

Incidental Mutation 'R6293:Ndel1'

508566

Institutional Source

Beutler Lab

Gene Symbol

Ndel1

Ensembl Gene

ENSMUSG00000018736

Gene Name

nudE neurodevelopment protein 1 like 1

Synonyms

2600006O07Rik, mNudel

MMRRC Submission

044462-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68712260-68743961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68727101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 192 (R192H)

Ref Sequence

ENSEMBL: ENSMUSP00000104312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018880] [ENSMUST00000101017] [ENSMUST00000108672]

AlphaFold

Q9ERR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000018880
AA Change: R192H

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

SMART Domains

Protein: ENSMUSP00000018880
Gene: ENSMUSG00000018736
AA Change: R192H

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
Pfam:NUDE_C	135	309	6.6e-49	PFAM
low complexity region	322	339	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101017
AA Change: R192H

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

SMART Domains

Protein: ENSMUSP00000098579
Gene: ENSMUSG00000018736
AA Change: R192H

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
Pfam:NUDE_C	135	315	9.3e-72	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108672
AA Change: R192H

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

SMART Domains

Protein: ENSMUSP00000104312
Gene: ENSMUSG00000018736
AA Change: R192H

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
Pfam:NUDE_C	135	315	9.3e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144300

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous inactivation of this gene causes peri-implantation lethality. Blastocysts fail to grow in culture and exhibit inner cell mass degeneration. Compound heterozygous mice carrying one null and one hypomorphic allele show mild neuronal migration defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,903,493 (GRCm39)	I1048T	probably benign	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Alkbh8	G	T	9: 3,347,841 (GRCm39)	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,307,885 (GRCm39)	S375P	possibly damaging	Het
Apoc1	T	A	7: 19,425,817 (GRCm39)	T68S	probably damaging	Het
Arfgef2	T	A	2: 166,715,508 (GRCm39)	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,215,658 (GRCm39)	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,398,659 (GRCm39)	Q46*	probably null	Het
Cdk12	T	A	11: 98,115,379 (GRCm39)	M840K	unknown	Het
Cfap251	A	C	5: 123,460,511 (GRCm39)	N1158H	probably damaging	Het
Col12a1	A	T	9: 79,521,640 (GRCm39)	N2772K	probably benign	Het
Dthd1	A	G	5: 63,000,193 (GRCm39)	D505G	probably damaging	Het
Elf1	C	T	14: 79,798,226 (GRCm39)	H38Y	probably damaging	Het
Gcnt2	T	A	13: 41,072,173 (GRCm39)	V272D	probably damaging	Het
Gm9964	T	A	11: 79,187,420 (GRCm39)	K9M	unknown	Het
Gpr155	A	G	2: 73,204,341 (GRCm39)	S158P	possibly damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hydin	A	G	8: 111,324,543 (GRCm39)	S4635G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Lrrc8c	A	G	5: 105,754,612 (GRCm39)	Y129C	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,307,312 (GRCm39)	Y418*	probably null	Het
Mpdz	A	G	4: 81,278,293 (GRCm39)	L764P	probably damaging	Het
Myt1l	A	G	12: 29,877,627 (GRCm39)	D426G	unknown	Het
Nudt21	T	C	8: 94,755,506 (GRCm39)	D134G	probably damaging	Het
Nup210l	A	T	3: 90,022,371 (GRCm39)	H113L	probably damaging	Het
Nxf1	A	G	19: 8,746,546 (GRCm39)	K586E	probably damaging	Het
Or2ag15	T	C	7: 106,340,613 (GRCm39)	H176R	probably damaging	Het
Or4s2	A	G	2: 88,473,624 (GRCm39)	E171G	possibly damaging	Het
Osbpl8	A	G	10: 111,108,099 (GRCm39)	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,560,497 (GRCm39)	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,515,465 (GRCm39)	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,755,798 (GRCm39)	Y205C	probably damaging	Het
Prex2	A	G	1: 11,232,522 (GRCm39)	N863S	probably benign	Het
Prkdc	A	G	16: 15,605,019 (GRCm39)	K2979R	probably benign	Het
Ptk6	T	C	2: 180,840,253 (GRCm39)	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,525,607 (GRCm39)	W334R	probably damaging	Het
Rbm11	A	T	16: 75,393,655 (GRCm39)		probably null	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rhbg	G	A	3: 88,153,133 (GRCm39)	R274*	probably null	Het
Rpp30	A	G	19: 36,081,845 (GRCm39)	*269W	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Slc44a1	A	G	4: 53,561,099 (GRCm39)	K605R	probably damaging	Het
Slco2a1	A	G	9: 102,927,346 (GRCm39)	S80G	probably benign	Het
Tmem50b	A	T	16: 91,380,164 (GRCm39)	M71K	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,638,481 (GRCm39)	T303A	possibly damaging	Het
Uba3	A	T	6: 97,173,869 (GRCm39)	D105E	probably damaging	Het
Vmn1r21	T	C	6: 57,821,255 (GRCm39)	D63G	probably benign	Het
Vstm2b	T	A	7: 40,549,533 (GRCm39)	I63N	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zscan22	T	A	7: 12,640,834 (GRCm39)	C359*	probably null	Het

Other mutations in Ndel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03236:Ndel1	APN	11	68,732,976 (GRCm39)	missense	probably benign	0.05
FR4342:Ndel1	UTSW	11	68,724,235 (GRCm39)	missense	probably damaging	0.97
R0025:Ndel1	UTSW	11	68,726,999 (GRCm39)	missense	probably damaging	0.97
R0088:Ndel1	UTSW	11	68,724,246 (GRCm39)	missense	probably damaging	0.98
R1510:Ndel1	UTSW	11	68,713,482 (GRCm39)	missense	possibly damaging	0.80
R1944:Ndel1	UTSW	11	68,720,746 (GRCm39)	missense	probably benign
R4710:Ndel1	UTSW	11	68,736,163 (GRCm39)	missense	probably damaging	0.99
R5940:Ndel1	UTSW	11	68,713,397 (GRCm39)	utr 3 prime	probably benign
R6678:Ndel1	UTSW	11	68,724,239 (GRCm39)	missense	possibly damaging	0.87
R7043:Ndel1	UTSW	11	68,713,450 (GRCm39)	missense	possibly damaging	0.70
R7107:Ndel1	UTSW	11	68,713,474 (GRCm39)	missense	possibly damaging	0.90
R7840:Ndel1	UTSW	11	68,720,806 (GRCm39)	nonsense	probably null
R8866:Ndel1	UTSW	11	68,734,645 (GRCm39)	critical splice donor site	probably null
X0013:Ndel1	UTSW	11	68,730,814 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCACGCAGAACTGTAGCAGC -3'
(R):5'- AAGTTCTAGGGGAGTTCACATTTTG -3'

Sequencing Primer
(F):5'- CTAACATGGCCTTCAAGAG -3'
(R):5'- AGGGGAGTTCACATTTTGTTAAAGAG -3'

Posted On

2018-03-15