Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03334:Nktr'

416968

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

5330401F18Rik, D9Wsu172e

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.659) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

121719169-121756843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121748176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 412 (F412L)

Ref Sequence

ENSEMBL: ENSMUSP00000138168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035112] [ENSMUST00000182179] [ENSMUST00000182225] [ENSMUST00000182503]

AlphaFold

P30415

Predicted Effect

probably benign
Transcript: ENSMUST00000035112
AA Change: F437L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: F437L

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	10	175	1.7e-48	PFAM
low complexity region	195	229	N/A	INTRINSIC
low complexity region	277	294	N/A	INTRINSIC
low complexity region	346	360	N/A	INTRINSIC
low complexity region	427	459	N/A	INTRINSIC
low complexity region	477	503	N/A	INTRINSIC
low complexity region	509	565	N/A	INTRINSIC
low complexity region	677	726	N/A	INTRINSIC
low complexity region	736	749	N/A	INTRINSIC
low complexity region	797	812	N/A	INTRINSIC
low complexity region	900	914	N/A	INTRINSIC
low complexity region	921	929	N/A	INTRINSIC
low complexity region	948	958	N/A	INTRINSIC
low complexity region	983	1003	N/A	INTRINSIC
low complexity region	1189	1200	N/A	INTRINSIC
low complexity region	1229	1236	N/A	INTRINSIC
low complexity region	1316	1453	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182076

Predicted Effect

probably benign
Transcript: ENSMUST00000182179

SMART Domains

Protein: ENSMUSP00000138437
Gene: ENSMUSG00000032525

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	10	103	1.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182225
AA Change: F412L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: F412L

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	10	175	2.1e-47	PFAM
low complexity region	184	215	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	321	335	N/A	INTRINSIC
low complexity region	402	434	N/A	INTRINSIC
low complexity region	452	478	N/A	INTRINSIC
low complexity region	484	540	N/A	INTRINSIC
low complexity region	652	701	N/A	INTRINSIC
low complexity region	711	724	N/A	INTRINSIC
low complexity region	772	787	N/A	INTRINSIC
low complexity region	875	889	N/A	INTRINSIC
low complexity region	896	904	N/A	INTRINSIC
low complexity region	923	933	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182503

SMART Domains

Protein: ENSMUSP00000138463
Gene: ENSMUSG00000032525

Domain	Start	End	E-Value	Type
low complexity region	10	85	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182607

Predicted Effect

probably benign
Transcript: ENSMUST00000182713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213351

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,947,475	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441		probably null	Het
Clca4a	A	T	3: 144,953,866	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821		probably benign	Het
Col27a1	A	T	4: 63,314,722	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837		probably null	Het
Fnbp1l	A	G	3: 122,557,949	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963	R48*	probably null	Het
Golga4	C	T	9: 118,537,233		probably benign	Het
Grin1	C	T	2: 25,298,393		probably null	Het
Ifi203	T	A	1: 173,937,835	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122	V594A	probably benign	Het
Krr1	T	G	10: 111,980,054	S275R	probably benign	Het
Lars	T	C	18: 42,221,506	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611		probably null	Het
Nlrp3	T	A	11: 59,549,016	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665		probably benign	Het
Vmn1r218	T	C	13: 23,136,618	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355	F382I	possibly damaging	Het

Other mutations in Nktr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Nktr	APN	9	121731564	missense	possibly damaging	0.94
IGL01402:Nktr	APN	9	121741152	splice site	probably null
IGL01404:Nktr	APN	9	121741152	splice site	probably null
IGL02945:Nktr	APN	9	121728631	missense	probably damaging	1.00
IGL03134:Nktr	UTSW	9	121746466	missense	probably damaging	1.00
PIT4131001:Nktr	UTSW	9	121741621	missense	probably damaging	1.00
R0010:Nktr	UTSW	9	121741166	splice site	probably benign
R0158:Nktr	UTSW	9	121750691	unclassified	probably benign
R0399:Nktr	UTSW	9	121731484	missense	probably damaging	0.98
R0503:Nktr	UTSW	9	121750740	unclassified	probably benign
R0585:Nktr	UTSW	9	121754280	utr 3 prime	probably benign
R0606:Nktr	UTSW	9	121749290	unclassified	probably benign
R1248:Nktr	UTSW	9	121727370	missense	probably damaging	1.00
R1899:Nktr	UTSW	9	121748866	unclassified	probably benign
R1912:Nktr	UTSW	9	121750240	unclassified	probably benign
R2049:Nktr	UTSW	9	121741694	missense	probably damaging	1.00
R2279:Nktr	UTSW	9	121731537	missense	possibly damaging	0.93
R2912:Nktr	UTSW	9	121749604	unclassified	probably benign
R2913:Nktr	UTSW	9	121749604	unclassified	probably benign
R2914:Nktr	UTSW	9	121749604	unclassified	probably benign
R3939:Nktr	UTSW	9	121749069	unclassified	probably benign
R4080:Nktr	UTSW	9	121741126	missense	probably damaging	1.00
R4471:Nktr	UTSW	9	121748896	unclassified	probably benign
R4472:Nktr	UTSW	9	121748896	unclassified	probably benign
R4506:Nktr	UTSW	9	121748883	unclassified	probably benign
R4556:Nktr	UTSW	9	121741123	missense	probably damaging	0.98
R4736:Nktr	UTSW	9	121749739	unclassified	probably benign
R4749:Nktr	UTSW	9	121741693	missense	probably damaging	1.00
R4943:Nktr	UTSW	9	121719954	intron	probably benign
R5084:Nktr	UTSW	9	121748110	missense	possibly damaging	0.86
R5250:Nktr	UTSW	9	121749792	unclassified	probably benign
R5288:Nktr	UTSW	9	121748593	missense	probably benign	0.23
R5324:Nktr	UTSW	9	121727346	missense	probably damaging	1.00
R5330:Nktr	UTSW	9	121752768	intron	probably benign
R5331:Nktr	UTSW	9	121752768	intron	probably benign
R5502:Nktr	UTSW	9	121748606	unclassified	probably benign
R5587:Nktr	UTSW	9	121748489	unclassified	probably benign
R5664:Nktr	UTSW	9	121749417	nonsense	probably null
R6005:Nktr	UTSW	9	121748394	unclassified	probably benign
R6057:Nktr	UTSW	9	121748389	unclassified	probably benign
R6083:Nktr	UTSW	9	121750136	unclassified	probably benign
R6274:Nktr	UTSW	9	121731565	missense	probably damaging	1.00
R6445:Nktr	UTSW	9	121748414	unclassified	probably benign
R6467:Nktr	UTSW	9	121731519	missense	probably damaging	1.00
R6911:Nktr	UTSW	9	121754326	nonsense	probably null
R6960:Nktr	UTSW	9	121742692	missense	probably damaging	0.99
R7226:Nktr	UTSW	9	121746533	missense	probably damaging	0.99
R7324:Nktr	UTSW	9	121727361	missense	probably damaging	1.00
R7324:Nktr	UTSW	9	121748291	missense	possibly damaging	0.66
R7451:Nktr	UTSW	9	121729656	missense	probably damaging	0.99
R7464:Nktr	UTSW	9	121750327	missense	unknown
R7537:Nktr	UTSW	9	121749279	missense	unknown
R8126:Nktr	UTSW	9	121746448	missense	probably damaging	1.00
R8163:Nktr	UTSW	9	121750863	unclassified	probably benign
R8812:Nktr	UTSW	9	121750251	missense	unknown
R8829:Nktr	UTSW	9	121754264	missense	unknown
R8945:Nktr	UTSW	9	121746492	missense	possibly damaging	0.70
R9158:Nktr	UTSW	9	121753088	missense	unknown
R9252:Nktr	UTSW	9	121750349	missense	unknown
R9378:Nktr	UTSW	9	121748198	missense	probably damaging	1.00

Posted On

2016-08-02