Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03120:Nhsl2'

409930

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 #

IGL03120

Quality Score

Status

Chromosome

Chromosomal Location

100892991-101135661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101114939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 97 (N97S)

Ref Sequence

ENSEMBL: ENSMUSP00000098893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101339] [ENSMUST00000113631] [ENSMUST00000119076] [ENSMUST00000124279] [ENSMUST00000144753] [ENSMUST00000188731]

AlphaFold

B1AXH1

Predicted Effect

probably benign
Transcript: ENSMUST00000101339
AA Change: N97S

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098893
Gene: ENSMUSG00000079481
AA Change: N97S

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: ENSMUST00000113631

SMART Domains

Protein: ENSMUSP00000109261
Gene: ENSMUSG00000049191

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
low complexity region	120	140	N/A	INTRINSIC
Pfam:DUF4939	146	237	4.2e-15	PFAM
Pfam:Retrotrans_gag	195	288	5.8e-13	PFAM
SCOP:d1sig__	349	492	6e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119076

SMART Domains

Protein: ENSMUSP00000133001
Gene: ENSMUSG00000049191

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
low complexity region	120	140	N/A	INTRINSIC
Pfam:Retrotrans_gag	195	288	9.3e-13	PFAM
SCOP:d1sig__	349	492	6e-3	SMART

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

noncoding transcript
Transcript: ENSMUST00000139878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155477

Predicted Effect

probably benign
Transcript: ENSMUST00000144753

Predicted Effect

probably benign
Transcript: ENSMUST00000188731

SMART Domains

Protein: ENSMUSP00000139504
Gene: ENSMUSG00000049191

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
low complexity region	120	140	N/A	INTRINSIC
Pfam:Retrotrans_gag	195	288	9.3e-13	PFAM
SCOP:d1sig__	349	492	6e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	A	G	9: 122,778,118 (GRCm39)	L42P	probably benign	Het
Cacna1e	T	C	1: 154,319,627 (GRCm39)	I1420V	probably damaging	Het
Cemip2	G	A	19: 21,801,207 (GRCm39)	D775N	possibly damaging	Het
Corin	T	C	5: 72,518,032 (GRCm39)	Y263C	probably damaging	Het
Cyp4f15	A	T	17: 32,909,738 (GRCm39)	I112F	probably damaging	Het
Dach1	T	C	14: 98,065,225 (GRCm39)	E724G	probably damaging	Het
Dip2b	T	C	15: 100,101,008 (GRCm39)		probably benign	Het
Dnah2	T	A	11: 69,312,674 (GRCm39)	E4297V	probably damaging	Het
Dot1l	A	G	10: 80,622,107 (GRCm39)		probably benign	Het
Endod1	C	A	9: 14,268,331 (GRCm39)	V385F	probably damaging	Het
Etnppl	A	G	3: 130,414,341 (GRCm39)	T73A	probably damaging	Het
Frmd4b	T	A	6: 97,373,206 (GRCm39)	D104V	possibly damaging	Het
Gp5	T	C	16: 30,127,016 (GRCm39)	I553V	possibly damaging	Het
Gpc5	A	G	14: 115,607,556 (GRCm39)	E386G	possibly damaging	Het
Hbb-bs	A	G	7: 103,476,985 (GRCm39)		probably benign	Het
Klra2	T	A	6: 131,197,180 (GRCm39)	Y273F	probably benign	Het
Lrrc37	T	C	11: 103,507,801 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,818,116 (GRCm39)	V366E	probably damaging	Het
Mtcl1	A	G	17: 66,686,378 (GRCm39)	S843P	probably damaging	Het
Npm2	C	A	14: 70,890,039 (GRCm39)		probably benign	Het
Npr2	C	T	4: 43,643,133 (GRCm39)	R506C	probably damaging	Het
Olr1	T	C	6: 129,465,898 (GRCm39)	E36G	probably damaging	Het
Or56b2	A	T	7: 104,337,609 (GRCm39)	Y129F	probably benign	Het
Pcdhb19	A	G	18: 37,631,209 (GRCm39)	I335V	probably benign	Het
Pla2g6	T	C	15: 79,171,060 (GRCm39)	D772G	probably damaging	Het
Ppfibp1	C	A	6: 146,899,667 (GRCm39)	D119E	probably benign	Het
Prdm9	T	C	17: 15,765,193 (GRCm39)	N529S	probably benign	Het
Rnf20	T	A	4: 49,649,955 (GRCm39)		probably benign	Het
Spata31h1	A	G	10: 82,120,869 (GRCm39)	V77A	possibly damaging	Het
Tmem132c	T	A	5: 127,640,448 (GRCm39)	V873E	probably benign	Het
Ttn	T	C	2: 76,757,428 (GRCm39)		probably null	Het
Vmn2r54	A	G	7: 12,349,314 (GRCm39)	I756T	probably 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
IGL03144:Nhsl2	APN	X	101,123,115 (GRCm39)	missense	possibly damaging	0.94
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