Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02901:Nhsl2'

363601

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 #

IGL02901

Quality Score

Status

Chromosome

Chromosomal Location

100892991-101135661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101122849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 884 (V884D)

Ref Sequence

ENSEMBL: ENSMUSP00000098893 (fasta)

Gene Model

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

AlphaFold

B1AXH1

Predicted Effect

probably benign
Transcript: ENSMUST00000101339
AA Change: V884D

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098893
Gene: ENSMUSG00000079481
AA Change: V884D

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,403,524 (GRCm39)	Y189N	probably damaging	Het
Ahdc1	A	G	4: 132,792,245 (GRCm39)	D1162G	possibly damaging	Het
Alpk2	A	G	18: 65,439,482 (GRCm39)	M637T	probably benign	Het
Arvcf	G	A	16: 18,216,992 (GRCm39)	A440T	probably damaging	Het
BC051665	A	T	13: 60,932,532 (GRCm39)	V51E	probably damaging	Het
Clca3a2	A	T	3: 144,522,529 (GRCm39)	V164E	probably damaging	Het
Cox6a2	A	C	7: 127,805,454 (GRCm39)	L5R	probably damaging	Het
Cpsf1	A	T	15: 76,483,696 (GRCm39)	L849*	probably null	Het
Dclk1	A	G	3: 55,395,208 (GRCm39)		probably benign	Het
Fam120b	T	A	17: 15,627,964 (GRCm39)		probably benign	Het
Iqub	A	G	6: 24,454,194 (GRCm39)	L563P	probably damaging	Het
Itgb3	A	T	11: 104,528,772 (GRCm39)	I300F	probably benign	Het
Mdga2	A	G	12: 66,844,583 (GRCm39)		probably benign	Het
Mfsd6	A	G	1: 52,747,632 (GRCm39)	I411T	probably benign	Het
Misp	A	T	10: 79,662,771 (GRCm39)	Y396F	possibly damaging	Het
Nxf7	A	T	X: 134,487,984 (GRCm39)		probably null	Het
Or10al4	T	A	17: 38,037,311 (GRCm39)	I132K	probably damaging	Het
Or4b12	G	A	2: 90,096,052 (GRCm39)	H241Y	probably damaging	Het
Palld	T	A	8: 62,330,029 (GRCm39)	K283*	probably null	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Proc	T	G	18: 32,256,678 (GRCm39)	T330P	possibly damaging	Het
Prpf38a	T	C	4: 108,425,615 (GRCm39)	D221G	probably damaging	Het
Prss55	T	A	14: 64,314,576 (GRCm39)	N198I	probably damaging	Het
Rabggta	A	G	14: 55,959,138 (GRCm39)	S10P	probably benign	Het
Sbk2	A	G	7: 4,960,289 (GRCm39)	Y294H	possibly damaging	Het
Smyd1	A	G	6: 71,215,614 (GRCm39)	V115A	probably benign	Het
Trpm7	A	G	2: 126,649,207 (GRCm39)		probably null	Het
Ttc21a	A	G	9: 119,787,347 (GRCm39)	N751S	probably damaging	Het
Upk1a	A	T	7: 30,303,204 (GRCm39)	M241K	possibly damaging	Het
Vmn2r71	A	C	7: 85,268,470 (GRCm39)	E224D	probably benign	Het
Vmn2r81	C	T	10: 79,106,564 (GRCm39)	T514I	probably damaging	Het
Zkscan16	T	C	4: 58,946,283 (GRCm39)	W53R	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
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
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

2015-12-18