Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03144:Nhsl2'

410817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nhsl2

Ensembl Gene

ENSMUSG00000079481

Gene Name

NHS like 2

Synonyms

1110062M06Rik, Gm10456

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.043) question?

Stock #

IGL03144

Quality Score

Status

Chromosome

Chromosomal Location

100892991-101135661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101123115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 973 (R973G)

Ref Sequence

ENSEMBL: ENSMUSP00000098893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101339] [ENSMUST00000124279] [ENSMUST00000144753]

AlphaFold

B1AXH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101339
AA Change: R973G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098893
Gene: ENSMUSG00000079481
AA Change: R973G

Domain	Start	End	E-Value	Type
low complexity region	48	62	N/A	INTRINSIC
low complexity region	68	84	N/A	INTRINSIC
low complexity region	135	155	N/A	INTRINSIC
Pfam:NHS	494	613	3.8e-11	PFAM
Pfam:NHS	607	771	1.5e-25	PFAM
low complexity region	827	836	N/A	INTRINSIC
low complexity region	935	952	N/A	INTRINSIC
low complexity region	989	1002	N/A	INTRINSIC
low complexity region	1145	1160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124279

SMART Domains

Protein: ENSMUSP00000116112
Gene: ENSMUSG00000079481

Domain	Start	End	E-Value	Type
low complexity region	48	62	N/A	INTRINSIC
low complexity region	68	94	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129185

Predicted Effect

probably benign
Transcript: ENSMUST00000144753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155477

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	A	17: 24,600,938 (GRCm39)	Q451K	probably benign	Het
Acly	A	T	11: 100,405,909 (GRCm39)	D294E	possibly damaging	Het
Arid3a	C	T	10: 79,782,316 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,643,539 (GRCm39)	V1830A	probably benign	Het
Atp6v1b1	T	C	6: 83,735,333 (GRCm39)	V467A	probably benign	Het
Ccdc171	A	T	4: 83,736,327 (GRCm39)	I1233L	probably damaging	Het
Ccdc74a	C	A	16: 17,466,730 (GRCm39)	Q146K	possibly damaging	Het
Cdh26	A	G	2: 178,109,967 (GRCm39)	D420G	probably damaging	Het
Ceacam20	T	C	7: 19,705,444 (GRCm39)	V145A	possibly damaging	Het
Cmya5	C	A	13: 93,227,376 (GRCm39)	A2571S	probably damaging	Het
Cog2	T	C	8: 125,267,763 (GRCm39)	S360P	probably damaging	Het
Col26a1	G	T	5: 136,794,202 (GRCm39)	T132N	probably damaging	Het
Col6a2	T	A	10: 76,450,259 (GRCm39)	H224L	probably benign	Het
Cpm	C	T	10: 117,519,319 (GRCm39)	S409L	probably benign	Het
Dock4	G	T	12: 40,742,906 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,557,603 (GRCm39)	N391Y	possibly damaging	Het
Exosc9	G	A	3: 36,608,284 (GRCm39)	G126D	probably damaging	Het
Eya3	T	C	4: 132,420,453 (GRCm39)	S256P	probably benign	Het
Fat3	T	C	9: 16,286,541 (GRCm39)	D994G	probably damaging	Het
Fat4	A	G	3: 39,011,008 (GRCm39)	Q2036R	possibly damaging	Het
Fryl	T	C	5: 73,258,798 (GRCm39)	Q662R	probably null	Het
Gm13271	A	G	4: 88,673,636 (GRCm39)	R178G	probably benign	Het
Gpr165	T	A	X: 95,760,560 (GRCm39)	L279Q	probably damaging	Het
Htr1b	A	G	9: 81,513,998 (GRCm39)	L203P	probably damaging	Het
Kcnb2	T	C	1: 15,780,112 (GRCm39)	L328P	probably damaging	Het
Klhl26	C	T	8: 70,905,214 (GRCm39)	R198H	probably damaging	Het
Nmi	A	T	2: 51,842,546 (GRCm39)	F182Y	probably damaging	Het
Nop2	T	A	6: 125,114,475 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Ooep	G	T	9: 78,285,289 (GRCm39)	A109E	possibly damaging	Het
Or1j21	A	G	2: 36,684,093 (GRCm39)	T282A	probably benign	Het
Pan3	T	C	5: 147,387,591 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,467,459 (GRCm39)	N127D	probably damaging	Het
Rabgap1	G	A	2: 37,430,544 (GRCm39)	R695H	probably damaging	Het
Rxrg	G	A	1: 167,426,327 (GRCm39)	G3R	possibly damaging	Het
Slc17a3	T	C	13: 24,030,423 (GRCm39)	M178T	probably benign	Het
Slc39a8	A	G	3: 135,589,971 (GRCm39)	E287G	probably benign	Het
Slc44a5	G	T	3: 153,949,177 (GRCm39)	D217Y	possibly damaging	Het
Slc4a10	G	T	2: 62,080,810 (GRCm39)	V346L	probably benign	Het
Slc9a4	T	C	1: 40,651,362 (GRCm39)	Y547H	probably damaging	Het
St6galnac3	A	C	3: 152,911,164 (GRCm39)	Y266D	probably damaging	Het
Stard6	A	T	18: 70,609,182 (GRCm39)	Y3F	possibly damaging	Het
Stk25	C	A	1: 93,556,858 (GRCm39)	L53F	probably damaging	Het
Tep1	A	T	14: 51,081,474 (GRCm39)		probably benign	Het
Tmem151a	T	A	19: 5,135,400 (GRCm39)	M1L	probably benign	Het
Trim10	T	C	17: 37,187,740 (GRCm39)	S319P	probably damaging	Het
Trmt44	G	T	5: 35,721,766 (GRCm39)	P466T	probably benign	Het
Unc79	T	C	12: 103,008,401 (GRCm39)	I256T	probably damaging	Het
Vmn2r125	G	T	4: 156,702,314 (GRCm39)	L33F	possibly damaging	Het

Other mutations in Nhsl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Nhsl2	APN	X	101,121,858 (GRCm39)	missense	probably damaging	1.00
IGL02901:Nhsl2	APN	X	101,122,849 (GRCm39)	missense	probably benign	0.25
IGL03038:Nhsl2	APN	X	101,122,491 (GRCm39)	missense	probably damaging	1.00
IGL03120:Nhsl2	APN	X	101,114,939 (GRCm39)	missense	probably benign	0.14
R3076:Nhsl2	UTSW	X	101,121,201 (GRCm39)	missense	probably damaging	0.98
R3077:Nhsl2	UTSW	X	101,121,201 (GRCm39)	missense	probably damaging	0.98
R3078:Nhsl2	UTSW	X	101,121,201 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02