Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Ntm'

374393

Institutional Source

Beutler Lab

Gene Symbol

Ntm

Ensembl Gene

ENSMUSG00000059974

Gene Name

neurotrimin

Synonyms

B230210G24Rik, Hnt, 6230410L23Rik

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28906046-29874437 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 28923516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 45 (Y45*)

Ref Sequence

ENSEMBL: ENSMUSP00000119030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075069] [ENSMUST00000115236] [ENSMUST00000115237] [ENSMUST00000140118] [ENSMUST00000155308]

AlphaFold

Q99PJ0

Predicted Effect

probably null
Transcript: ENSMUST00000075069
AA Change: Y221*

SMART Domains

Protein: ENSMUSP00000074578
Gene: ENSMUSG00000059974
AA Change: Y221*

Domain	Start	End	E-Value	Type
IG	42	133	2.08e-10	SMART
IGc2	148	208	1.31e-16	SMART
IGc2	234	302	2.3e-12	SMART
low complexity region	332	342	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115236
AA Change: Y221*

SMART Domains

Protein: ENSMUSP00000110891
Gene: ENSMUSG00000059974
AA Change: Y221*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	42	133	2.08e-10	SMART
IGc2	148	208	1.31e-16	SMART
IGc2	234	302	2.3e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115237
AA Change: Y221*

SMART Domains

Protein: ENSMUSP00000110892
Gene: ENSMUSG00000059974
AA Change: Y221*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	42	133	2.08e-10	SMART
IGc2	148	208	1.31e-16	SMART
IGc2	234	302	2.3e-12	SMART
low complexity region	332	342	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126044

Predicted Effect

probably null
Transcript: ENSMUST00000140118
AA Change: Y45*

SMART Domains

Protein: ENSMUSP00000114810
Gene: ENSMUSG00000059974
AA Change: Y45*

Domain	Start	End	E-Value	Type
Pfam:Ig_2	3	43	5.2e-3	PFAM
IGc2	58	126	2.3e-12	SMART
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148606

Predicted Effect

probably null
Transcript: ENSMUST00000155308
AA Change: Y45*

SMART Domains

Protein: ENSMUSP00000119030
Gene: ENSMUSG00000059974
AA Change: Y45*

Domain	Start	End	E-Value	Type
Pfam:Ig_2	3	43	5.8e-3	PFAM
IGc2	58	126	2.3e-12	SMART
low complexity region	179	189	N/A	INTRINSIC

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm2	A	G	7: 119,153,732 (GRCm39)	H14R	unknown	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ak5	A	G	3: 152,361,517 (GRCm39)	I135T	probably damaging	Het
Alk	G	T	17: 72,206,236 (GRCm39)	S1038*	probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Ap2m1	A	T	16: 20,362,134 (GRCm39)	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,100,842 (GRCm39)	M649K	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Calhm6	T	A	10: 34,003,827 (GRCm39)	T27S	probably damaging	Het
Cdc25b	A	G	2: 131,033,618 (GRCm39)	S186G	probably benign	Het
Ceacam16	A	G	7: 19,587,514 (GRCm39)	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,926,667 (GRCm39)	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,020,144 (GRCm39)	V172F	possibly damaging	Het
Dynlt4	C	T	4: 116,985,320 (GRCm39)	R48C	probably damaging	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Esp36	T	A	17: 38,729,847 (GRCm39)	T15S	unknown	Het
Fat2	A	T	11: 55,200,466 (GRCm39)	H869Q	possibly damaging	Het
Fat3	A	G	9: 15,942,448 (GRCm39)	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,742,880 (GRCm39)	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,044,459 (GRCm39)	K13R	probably benign	Het
Hycc1	A	C	5: 24,184,579 (GRCm39)	C218G	possibly damaging	Het
Kdr	A	G	5: 76,104,585 (GRCm39)	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,303,681 (GRCm39)		probably benign	Het
Neto2	G	A	8: 86,367,712 (GRCm39)	T337I	probably damaging	Het
Nfib	C	T	4: 82,416,672 (GRCm39)	R137Q	probably damaging	Het
Nherf4	T	C	9: 44,159,285 (GRCm39)	*499W	probably null	Het
Nr3c2	A	G	8: 77,944,096 (GRCm39)	E890G	probably damaging	Het
Nsun4	A	G	4: 115,897,327 (GRCm39)	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,689 (GRCm39)	S263T	probably benign	Het
Nts	A	G	10: 102,320,888 (GRCm39)	V67A	probably benign	Het
Or1e19	A	T	11: 73,316,537 (GRCm39)	S91T	possibly damaging	Het
Or1e25	A	G	11: 73,493,712 (GRCm39)	Y102C	probably damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Or51ag1	T	A	7: 103,155,346 (GRCm39)	K269M	probably benign	Het
Ostm1	C	A	10: 42,555,119 (GRCm39)	A47E	probably benign	Het
Otol1	G	A	3: 69,925,881 (GRCm39)	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,814,304 (GRCm39)	I265T	probably damaging	Het
Pex14	T	C	4: 149,045,967 (GRCm39)	E321G	possibly damaging	Het
Phactr3	C	A	2: 177,924,925 (GRCm39)	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,528,570 (GRCm39)	T313M	probably benign	Het
Plce1	A	T	19: 38,755,745 (GRCm39)	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,042,308 (GRCm39)		noncoding transcript	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rhob	A	G	12: 8,549,533 (GRCm39)	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,419,829 (GRCm39)	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,152,442 (GRCm39)	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,765,752 (GRCm39)	E62Q	probably damaging	Het
Tll2	A	G	19: 41,109,787 (GRCm39)	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,014,954 (GRCm39)	N288S	probably benign	Het
Zfhx3	G	A	8: 109,682,269 (GRCm39)	R3236H	unknown	Het
Zfp764l1	T	G	7: 126,992,174 (GRCm39)	Q87P	possibly damaging	Het
Zgrf1	A	G	3: 127,355,727 (GRCm39)	T318A	probably benign	Het

Other mutations in Ntm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Ntm	APN	9	28,925,480 (GRCm39)	missense	probably damaging	1.00
IGL01790:Ntm	APN	9	29,322,886 (GRCm39)	missense	probably benign	0.05
IGL03236:Ntm	APN	9	29,020,802 (GRCm39)	missense	probably benign	0.04
Frowsy	UTSW	9	28,923,516 (GRCm39)	nonsense	probably null
R0423:Ntm	UTSW	9	29,090,395 (GRCm39)	missense	probably damaging	0.99
R1772:Ntm	UTSW	9	29,090,396 (GRCm39)	missense	probably benign	0.02
R1905:Ntm	UTSW	9	29,090,393 (GRCm39)	missense	probably damaging	1.00
R2295:Ntm	UTSW	9	29,020,817 (GRCm39)	missense	possibly damaging	0.89
R4342:Ntm	UTSW	9	29,020,727 (GRCm39)	missense	probably damaging	0.98
R4696:Ntm	UTSW	9	29,090,501 (GRCm39)	missense	possibly damaging	0.46
R5572:Ntm	UTSW	9	28,925,512 (GRCm39)	missense	probably damaging	1.00
R6031:Ntm	UTSW	9	28,920,671 (GRCm39)	missense	probably damaging	1.00
R6031:Ntm	UTSW	9	28,920,671 (GRCm39)	missense	probably damaging	1.00
R6431:Ntm	UTSW	9	29,322,978 (GRCm39)	missense	probably damaging	1.00
R7250:Ntm	UTSW	9	29,322,988 (GRCm39)	missense	probably benign	0.06
R8283:Ntm	UTSW	9	28,923,508 (GRCm39)	missense	probably damaging	0.96
R9477:Ntm	UTSW	9	29,322,922 (GRCm39)	missense	probably benign	0.03
R9713:Ntm	UTSW	9	29,090,327 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AATTCGATTGTCTGCAATTGGG -3'
(R):5'- TGACAGCTAAACCTCAGTACCG -3'

Sequencing Primer
(F):5'- CGATTGTCTGCAATTGGGAATTTG -3'
(R):5'- CGTATGCTGAAAAACGATGACTTCC -3'

Posted On

2016-03-04