Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Nhsl3'

590050

Institutional Source

Beutler Lab

Gene Symbol

Nhsl3

Ensembl Gene

ENSMUSG00000050390

Gene Name

NHS like 3

Synonyms

C77080

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129113371-129155194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129115734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1022 (T1022A)

Ref Sequence

ENSEMBL: ENSMUSP00000062395 (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: T1022A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: T1022A

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: T977A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: T977A

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

probably benign
Transcript: ENSMUST00000106051
AA Change: T965A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: T965A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	T	G	2: 26,733,855 (GRCm39)	T115P	probably damaging	Het
Aggf1	G	A	13: 95,492,921 (GRCm39)	R563*	probably null	Het
Amdhd1	A	T	10: 93,370,360 (GRCm39)	Y159*	probably null	Het
Camp	T	C	9: 109,677,461 (GRCm39)	E124G		Het
Casq2	A	G	3: 101,994,016 (GRCm39)	E21G	possibly damaging	Het
Cbln1	A	T	8: 88,198,357 (GRCm39)	F116Y	probably damaging	Het
Cklf	A	T	8: 104,989,996 (GRCm39)	K143*	probably null	Het
Clca3a1	A	G	3: 144,457,723 (GRCm39)	I387T	probably damaging	Het
Cndp1	T	A	18: 84,654,174 (GRCm39)	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,184,670 (GRCm39)	M317K	possibly damaging	Het
Dmxl2	A	T	9: 54,365,078 (GRCm39)	I138K	unknown	Het
Eapp	A	G	12: 54,720,508 (GRCm39)	S236P	probably benign	Het
Efcab3	T	A	11: 104,927,625 (GRCm39)	M4798K	probably benign	Het
Efnb3	T	C	11: 69,448,046 (GRCm39)	H132R	possibly damaging	Het
Fam243	A	G	16: 92,117,805 (GRCm39)	V161A	probably damaging	Het
Fbn2	A	T	18: 58,238,208 (GRCm39)	N596K	probably damaging	Het
Fzd9	A	G	5: 135,279,484 (GRCm39)	W134R	probably damaging	Het
Gga2	A	G	7: 121,603,157 (GRCm39)	S180P	probably damaging	Het
Golga3	A	G	5: 110,353,694 (GRCm39)	T911A	probably benign	Het
Gstm1	C	T	3: 107,921,866 (GRCm39)		probably null	Het
Heg1	A	G	16: 33,547,867 (GRCm39)	T909A	probably damaging	Het
Herc2	T	C	7: 55,807,186 (GRCm39)	S2455P	probably benign	Het
Herc2	C	T	7: 55,870,273 (GRCm39)	R4349W	probably damaging	Het
Hivep2	T	G	10: 14,019,595 (GRCm39)	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,564,707 (GRCm39)		probably null	Het
Kbtbd13	G	T	9: 65,298,605 (GRCm39)	C110*	probably null	Het
Krt78	T	C	15: 101,859,318 (GRCm39)	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,288,995 (GRCm39)	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,307,352 (GRCm39)		probably null	Het
Lrrc14	A	G	15: 76,598,173 (GRCm39)	D301G	probably benign	Het
Lrrc71	C	A	3: 87,649,113 (GRCm39)	G352W	probably damaging	Het
Map3k9	A	G	12: 81,771,506 (GRCm39)	V694A	probably benign	Het
Mboat2	T	C	12: 24,989,325 (GRCm39)	S162P	probably damaging	Het
Megf11	C	A	9: 64,586,535 (GRCm39)	N422K	probably damaging	Het
Miga1	C	T	3: 151,982,324 (GRCm39)	S584N	probably benign	Het
Mindy2	A	G	9: 70,524,141 (GRCm39)	Y403H	probably damaging	Het
Mmd	C	T	11: 90,167,583 (GRCm39)	A204V	possibly damaging	Het
Mta3	A	T	17: 84,107,572 (GRCm39)	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,598,794 (GRCm39)	S43F	probably benign	Het
Nphp4	T	C	4: 152,638,991 (GRCm39)	V874A	probably benign	Het
Nsd1	A	G	13: 55,460,141 (GRCm39)	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,190,792 (GRCm39)	H302R	probably benign	Het
Odc1	A	G	12: 17,600,003 (GRCm39)	Y389C	probably damaging	Het
Or52p2	A	G	7: 102,237,125 (GRCm39)	I275T	probably damaging	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Or8g37	T	G	9: 39,731,189 (GRCm39)	F85V	probably damaging	Het
Pcare	T	C	17: 72,057,880 (GRCm39)	D599G	probably damaging	Het
Pcdhb10	A	C	18: 37,545,365 (GRCm39)	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,465,675 (GRCm39)	C182G	probably damaging	Het
Pigv	T	C	4: 133,392,762 (GRCm39)	D136G	possibly damaging	Het
Polr1h	A	C	17: 37,268,722 (GRCm39)		probably null	Het
Pramel5	T	C	4: 143,998,010 (GRCm39)	E411G	possibly damaging	Het
Prkce	T	C	17: 86,476,028 (GRCm39)	V3A	probably benign	Het
Pth1r	T	C	9: 110,551,461 (GRCm39)	N546S	probably benign	Het
Qrich2	C	T	11: 116,346,148 (GRCm39)	V1559I	probably benign	Het
Rbm20	A	C	19: 53,802,764 (GRCm39)	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,388,284 (GRCm39)	D393N	probably damaging	Het
Sf3b3	G	A	8: 111,547,445 (GRCm39)	R728C	probably damaging	Het
Spata31e1	G	T	13: 49,940,451 (GRCm39)	Q420K	probably benign	Het
Srcap	A	G	7: 127,137,920 (GRCm39)	N1090S	probably benign	Het
Syt4	A	T	18: 31,576,875 (GRCm39)	S160T	probably benign	Het
Tcstv6	A	T	13: 120,304,224 (GRCm39)		probably null	Het
Tfap2e	C	T	4: 126,615,727 (GRCm39)	V236M	probably damaging	Het
Thsd4	G	A	9: 60,301,755 (GRCm39)	T180M	probably damaging	Het
Tlr4	T	A	4: 66,758,443 (GRCm39)	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883 (GRCm39)	H136L	probably benign	Het
Tnpo2	T	A	8: 85,771,044 (GRCm39)	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,270,870 (GRCm39)	M111V	probably benign	Het
Tubb3	A	T	8: 124,147,900 (GRCm39)	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299 (GRCm39)	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,067,706 (GRCm39)	S334P	probably damaging	Het
Vps13c	A	G	9: 67,852,791 (GRCm39)	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,454,172 (GRCm39)	Y125H	probably benign	Het
Zfp747	A	T	7: 126,973,819 (GRCm39)	M117K	probably benign	Het
Zscan4c	A	T	7: 10,743,658 (GRCm39)	N419I	possibly damaging	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
R5314: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
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'- AAGAGCATGCCCACCTATGG -3'
(R):5'- AGCTTCATCTTCTCCAAGGGC -3'

Sequencing Primer
(F):5'- TATGGTGGGCCCTCTGAGAAC -3'
(R):5'- AACTGCAGCTGGAGAGGCC -3'

Posted On

2019-10-24