Mutagenetix > Incidental Mutation

Incidental Mutation 'R5314:Nhsl3'

405732

Institutional Source

Beutler Lab

Gene Symbol

Nhsl3

Ensembl Gene

ENSMUSG00000050390

Gene Name

NHS like 3

Synonyms

C77080

MMRRC Submission

042897-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R5314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129113371-129155194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129118005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 208 (T208A)

Ref Sequence

ENSEMBL: ENSMUSP00000101666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052602] [ENSMUST00000097873] [ENSMUST00000106051] [ENSMUST00000106054] [ENSMUST00000145261] [ENSMUST00000146376]

AlphaFold

A2A7S8

Predicted Effect

probably benign
Transcript: ENSMUST00000052602
AA Change: T265A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: T265A

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
low complexity region	39	80	N/A	INTRINSIC
low complexity region	209	215	N/A	INTRINSIC
low complexity region	273	286	N/A	INTRINSIC
low complexity region	365	382	N/A	INTRINSIC
low complexity region	393	418	N/A	INTRINSIC
low complexity region	449	464	N/A	INTRINSIC
low complexity region	492	499	N/A	INTRINSIC
low complexity region	532	550	N/A	INTRINSIC
low complexity region	555	588	N/A	INTRINSIC
low complexity region	621	634	N/A	INTRINSIC
low complexity region	657	690	N/A	INTRINSIC
low complexity region	724	739	N/A	INTRINSIC
low complexity region	743	773	N/A	INTRINSIC
low complexity region	810	833	N/A	INTRINSIC
low complexity region	916	930	N/A	INTRINSIC
low complexity region	988	1020	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097873
AA Change: T220A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: T220A

Domain	Start	End	E-Value	Type
low complexity region	164	170	N/A	INTRINSIC
low complexity region	228	241	N/A	INTRINSIC
low complexity region	320	337	N/A	INTRINSIC
low complexity region	348	373	N/A	INTRINSIC
low complexity region	404	419	N/A	INTRINSIC
low complexity region	447	454	N/A	INTRINSIC
low complexity region	487	505	N/A	INTRINSIC
low complexity region	510	543	N/A	INTRINSIC
low complexity region	576	589	N/A	INTRINSIC
low complexity region	612	645	N/A	INTRINSIC
low complexity region	679	694	N/A	INTRINSIC
low complexity region	698	728	N/A	INTRINSIC
low complexity region	765	788	N/A	INTRINSIC
low complexity region	871	885	N/A	INTRINSIC
low complexity region	943	975	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106051
AA Change: T208A

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: T208A

Domain	Start	End	E-Value	Type
low complexity region	152	158	N/A	INTRINSIC
low complexity region	216	229	N/A	INTRINSIC
low complexity region	308	325	N/A	INTRINSIC
low complexity region	336	361	N/A	INTRINSIC
low complexity region	392	407	N/A	INTRINSIC
low complexity region	435	442	N/A	INTRINSIC
low complexity region	475	493	N/A	INTRINSIC
low complexity region	498	531	N/A	INTRINSIC
low complexity region	564	577	N/A	INTRINSIC
low complexity region	600	633	N/A	INTRINSIC
low complexity region	667	682	N/A	INTRINSIC
low complexity region	686	716	N/A	INTRINSIC
low complexity region	753	776	N/A	INTRINSIC
low complexity region	859	873	N/A	INTRINSIC
low complexity region	931	963	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106054

SMART Domains

Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:tRNA-synt_1b	67	358	1e-78	PFAM
Pfam:tRNA_bind	406	502	7.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145261

Predicted Effect

probably benign
Transcript: ENSMUST00000146376

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,473,172 (GRCm39)	F109S	unknown	Het
Ankhd1	A	T	18: 36,694,111 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,863,248 (GRCm39)		probably null	Het
Ccdc136	G	T	6: 29,417,497 (GRCm39)	V707F	probably benign	Het
Ccdc157	A	T	11: 4,100,078 (GRCm39)	C91*	probably null	Het
Ceacam3	T	A	7: 16,892,296 (GRCm39)	N346K	possibly damaging	Het
Cfap251	A	G	5: 123,460,626 (GRCm39)	D1196G	probably benign	Het
Chd4	A	G	6: 125,077,551 (GRCm39)	E74G	probably damaging	Het
Cntn1	A	G	15: 92,192,892 (GRCm39)	M665V	probably benign	Het
Crtc2	C	T	3: 90,168,348 (GRCm39)	Q364*	probably null	Het
Csf1r	T	A	18: 61,262,796 (GRCm39)	I857N	probably damaging	Het
Dner	C	T	1: 84,558,460 (GRCm39)	G168D	probably damaging	Het
Edar	T	C	10: 58,443,182 (GRCm39)	T315A	probably benign	Het
Egflam	A	G	15: 7,333,493 (GRCm39)	V153A	probably damaging	Het
Enoph1	T	C	5: 100,211,682 (GRCm39)	I193T	possibly damaging	Het
Epc1	A	G	18: 6,462,969 (GRCm39)	I9T	probably damaging	Het
Fbxw18	T	A	9: 109,522,246 (GRCm39)	I208F	possibly damaging	Het
Gm4841	A	G	18: 60,403,364 (GRCm39)	V243A	probably benign	Het
Herc2	T	C	7: 55,869,534 (GRCm39)	V4297A	probably damaging	Het
Itsn2	C	T	12: 4,677,960 (GRCm39)	P106S	probably benign	Het
Kcnu1	A	G	8: 26,352,486 (GRCm39)	T218A	probably damaging	Het
Kif1a	A	G	1: 92,946,220 (GRCm39)	S1677P	probably damaging	Het
Krt14	A	T	11: 100,095,526 (GRCm39)	M293K	probably damaging	Het
Meis3	T	A	7: 15,917,989 (GRCm39)	V307E	probably damaging	Het
Nadk2	A	C	15: 9,108,401 (GRCm39)	I417L	probably benign	Het
Nav2	AAGCAGCAGCAGCAGCAGCAGCAGCA	AAGCAGCAGCAGCAGCAGCAGCA	7: 49,058,440 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,171,515 (GRCm39)	N1659K	probably benign	Het
Or10w1	T	C	19: 13,632,630 (GRCm39)	V274A	probably benign	Het
Or8g32	T	C	9: 39,305,785 (GRCm39)	S233P	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pde3b	A	T	7: 114,093,772 (GRCm39)	N339Y	probably damaging	Het
Pde8b	A	G	13: 95,223,361 (GRCm39)	F298L	possibly damaging	Het
Phtf1	G	A	3: 103,906,603 (GRCm39)	R606H	probably damaging	Het
Psd4	A	G	2: 24,290,528 (GRCm39)	D535G	possibly damaging	Het
Rad51ap1	A	G	6: 126,905,121 (GRCm39)	V130A	probably damaging	Het
Rbm11	T	C	16: 75,393,474 (GRCm39)	F57L	probably damaging	Het
Rprd2	A	G	3: 95,671,401 (GRCm39)	V1334A	possibly damaging	Het
Satb2	T	C	1: 56,870,686 (GRCm39)	E433G	probably damaging	Het
Sema6b	G	A	17: 56,435,413 (GRCm39)	R277*	probably null	Het
Sepsecs	A	T	5: 52,805,015 (GRCm39)	S349T	probably benign	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Slc7a2	T	C	8: 41,368,067 (GRCm39)		probably null	Het
Smc1b	T	A	15: 84,955,066 (GRCm39)	Y1062F	probably benign	Het
Snrnp70	G	A	7: 45,026,476 (GRCm39)	R298*	probably null	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Taar8c	A	T	10: 23,977,246 (GRCm39)	C189S	probably damaging	Het
Tas1r2	T	A	4: 139,382,672 (GRCm39)	D103E	probably damaging	Het
Timd2	T	C	11: 46,568,087 (GRCm39)	I236V	probably benign	Het
Tmem87a	A	G	2: 120,208,407 (GRCm39)	V316A	probably damaging	Het
Treml2	T	A	17: 48,607,601 (GRCm39)	L16Q	probably damaging	Het
Zcchc14	G	A	8: 122,335,337 (GRCm39)		probably benign	Het
Zfp462	T	C	4: 55,013,178 (GRCm39)	Y567H	probably damaging	Het
Zfp551	G	A	7: 12,150,087 (GRCm39)	R441*	probably null	Het
Zfp930	A	G	8: 69,679,373 (GRCm39)	I59M	probably benign	Het

Other mutations in Nhsl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Nhsl3	APN	4	129,116,589 (GRCm39)	splice site	probably null
IGL02654:Nhsl3	APN	4	129,116,112 (GRCm39)	missense	probably damaging	1.00
IGL02797:Nhsl3	APN	4	129,117,104 (GRCm39)	missense	probably damaging	0.99
IGL03231:Nhsl3	APN	4	129,117,474 (GRCm39)	missense	possibly damaging	0.73
IGL03134:Nhsl3	UTSW	4	129,116,280 (GRCm39)	missense	possibly damaging	0.53
R0078:Nhsl3	UTSW	4	129,121,516 (GRCm39)	splice site	probably null
R0418:Nhsl3	UTSW	4	129,117,477 (GRCm39)	missense	probably damaging	1.00
R1374:Nhsl3	UTSW	4	129,116,082 (GRCm39)	missense	possibly damaging	0.83
R1632:Nhsl3	UTSW	4	129,116,459 (GRCm39)	missense	possibly damaging	0.94
R1735:Nhsl3	UTSW	4	129,117,370 (GRCm39)	missense	probably damaging	1.00
R1970:Nhsl3	UTSW	4	129,119,810 (GRCm39)	splice site	probably benign
R2018:Nhsl3	UTSW	4	129,116,148 (GRCm39)	missense	probably damaging	0.96
R2157:Nhsl3	UTSW	4	129,117,917 (GRCm39)	missense	possibly damaging	0.76
R2201:Nhsl3	UTSW	4	129,116,432 (GRCm39)	missense	probably benign
R2316:Nhsl3	UTSW	4	129,117,540 (GRCm39)	missense	probably damaging	1.00
R3751:Nhsl3	UTSW	4	129,118,115 (GRCm39)	unclassified	probably benign
R4648:Nhsl3	UTSW	4	129,115,733 (GRCm39)	missense	probably benign	0.00
R4790:Nhsl3	UTSW	4	129,117,095 (GRCm39)	missense	probably damaging	1.00
R4885:Nhsl3	UTSW	4	129,118,238 (GRCm39)	missense	probably damaging	1.00
R5217:Nhsl3	UTSW	4	129,116,478 (GRCm39)	missense	probably damaging	0.99
R5270:Nhsl3	UTSW	4	129,118,005 (GRCm39)	missense	possibly damaging	0.48
R5272:Nhsl3	UTSW	4	129,118,005 (GRCm39)	missense	possibly damaging	0.48
R5273:Nhsl3	UTSW	4	129,118,005 (GRCm39)	missense	possibly damaging	0.48
R5548:Nhsl3	UTSW	4	129,117,773 (GRCm39)	frame shift	probably null
R5752:Nhsl3	UTSW	4	129,117,773 (GRCm39)	frame shift	probably null
R5908:Nhsl3	UTSW	4	129,115,941 (GRCm39)	missense	probably damaging	0.98
R5960:Nhsl3	UTSW	4	129,115,865 (GRCm39)	missense	probably damaging	0.99
R7024:Nhsl3	UTSW	4	129,119,201 (GRCm39)	missense	probably null	0.73
R7296:Nhsl3	UTSW	4	129,119,211 (GRCm39)	missense	probably damaging	1.00
R7447:Nhsl3	UTSW	4	129,115,835 (GRCm39)	missense	possibly damaging	0.63
R7638:Nhsl3	UTSW	4	129,115,734 (GRCm39)	missense	probably benign
R7689:Nhsl3	UTSW	4	129,117,566 (GRCm39)	missense	probably benign	0.25
R7819:Nhsl3	UTSW	4	129,116,276 (GRCm39)	missense	probably benign	0.31
R8213:Nhsl3	UTSW	4	129,115,252 (GRCm39)	missense	possibly damaging	0.64
R8219:Nhsl3	UTSW	4	129,141,946 (GRCm39)	missense	possibly damaging	0.55
R8348:Nhsl3	UTSW	4	129,117,699 (GRCm39)	missense	probably damaging	1.00
R8360:Nhsl3	UTSW	4	129,117,995 (GRCm39)	missense	possibly damaging	0.89
R8788:Nhsl3	UTSW	4	129,119,743 (GRCm39)	missense	probably benign
R9252:Nhsl3	UTSW	4	129,117,269 (GRCm39)	missense	probably benign	0.01
R9652:Nhsl3	UTSW	4	129,117,962 (GRCm39)	missense	possibly damaging	0.90
Z1088:Nhsl3	UTSW	4	129,116,091 (GRCm39)	missense	probably damaging	1.00
Z1176:Nhsl3	UTSW	4	129,117,497 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCACTGCGAGAGACATTG -3'
(R):5'- CCATGACTCATTTCCCAAATCTGG -3'

Sequencing Primer
(F):5'- AGAGACATTGGCCTCGTCAGTG -3'
(R):5'- CCTCAGCACGTGCAGAAG -3'

Posted On

2016-07-22