Mutagenetix > Incidental Mutation

Incidental Mutation 'RF011:Nipal1'

603199

Institutional Source

Beutler Lab

Gene Symbol

Nipal1

Ensembl Gene

ENSMUSG00000067219

Gene Name

NIPA-like domain containing 1

Synonyms

3830408G10Rik, Npal1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

RF011 (G1)

Quality Score

184.009

Status

Not validated

Chromosome

Chromosomal Location

72647795-72671078 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72666813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 167 (N167D)

Ref Sequence

ENSEMBL: ENSMUSP00000084462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087212] [ENSMUST00000197837]

AlphaFold

Q8BMW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000087212
AA Change: N167D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: N167D

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	66	360	6e-136	PFAM
Pfam:EamA	107	186	1.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197837
AA Change: N78D

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219
AA Change: N78D

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	3	96	2.1e-45	PFAM
Pfam:EamA	17	96	2.8e-10	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,743,609	K672R	possibly damaging	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,913,573		probably benign	Het
A030005L19Rik	TGCTG	TGCTGTGGCGGCTG	1: 82,913,586		probably benign	Het
AI837181	GCG	GCGTCG	19: 5,425,236		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571		probably benign	Het
Aqp2	T	C	15: 99,583,872	S216P	probably damaging	Het
Cacna1f	GGA	GGAAGA	X: 7,620,056		probably benign	Het
Ccdc170	CCA	CCAGCA	10: 4,561,018		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cela2a	T	C	4: 141,821,715	N117D	probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,500,848		probably benign	Het
Cyb5r2	A	T	7: 107,751,168	S235R	probably benign	Het
Dnmt1	CACAGTTCCTACCTCGTT	CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT	9: 20,910,128		probably null	Het
Dnmt1	TT	TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT	9: 20,910,144		probably null	Het
E4f1	CCG	CCGTCG	17: 24,455,186		probably benign	Het
Fam171b	TCCAGCA	TCCAGCACCAGCA	2: 83,812,873		probably benign	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,271,316		probably benign	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,542,699		probably null	Het
Flii	G	A	11: 60,716,243	A969V	probably benign	Het
Fscb	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	12: 64,472,994		probably benign	Het
Gas1	G	GAAA	13: 60,176,531		probably benign	Het
Grip1	A	G	10: 119,931,315	D115G	probably null	Het
Guca2b	G	T	4: 119,656,847	T89N	possibly damaging	Het
Hcn4	T	A	9: 58,859,915	S920T	unknown	Het
Heatr1	A	G	13: 12,407,544	M484V	probably benign	Het
Iba57	G	T	11: 59,163,612	A27E	probably benign	Het
Ifi207	G	C	1: 173,729,121	L684V	not run	Het
Ints13	T	C	6: 146,556,240	H380R	probably damaging	Het
Jmjd1c	C	T	10: 67,220,199	T466I	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kif12	C	CCTCCACCCGGCGGGG	4: 63,171,427		probably benign	Het
Kmt2c	A	T	5: 25,338,459	D1399E	probably damaging	Het
Macf1	A	T	4: 123,473,855	L2371Q	probably damaging	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,273,610		probably benign	Het
Med12l	GCA	GCATCA	3: 59,275,980		probably benign	Het
Mgam	C	A	6: 40,757,436	Q1472K	probably damaging	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,149,345		probably benign	Het
Olfr1105	T	A	2: 87,034,041	Y60F	probably damaging	Het
Olfr1426	C	T	19: 12,088,247	V182I	probably benign	Het
Osbpl3	CCTGCA	C	6: 50,348,138		probably benign	Het
Phf20	CCCCCCCCC	CCCCCCCCCCCCCCCC	2: 156,304,620		probably benign	Het
Phf20	CCCCCCCC	CCCCCCCCCCCCCCC	2: 156,304,621		probably benign	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rbm33	CCAGCCGCAGC	CCAGC	5: 28,394,181		probably benign	Het
Rubcnl	T	C	14: 75,044,438	F445S	probably damaging	Het
S100a10	TTTTTTTA	T	3: 93,564,234		probably benign	Het
Sbp	AA	AAAATGCTGACAACGGA	17: 23,945,354		probably benign	Het
Sec14l3	A	C	11: 4,067,963	Q81P	possibly damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,343		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,368		probably benign	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,836,957		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739		probably benign	Het
Tmem28	CGCCGC	CGCCGCAGCCGC	X: 99,821,361		probably benign	Het
Tox2	A	G	2: 163,225,564	I68V	probably benign	Het
Triml2	G	T	8: 43,183,164		probably benign	Het
Tspan33	A	G	6: 29,716,730	Y162C	probably damaging	Het
Zfp384	GGCCCAGGCCCA	GGCCCAGGCCCAAGCCCAGGCCCA	6: 125,036,476		probably benign	Het
Zfp948	T	C	17: 21,588,312	Y589H	probably damaging	Het
Zic1	T	C	9: 91,364,330	I230V	probably benign	Het

Other mutations in Nipal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Nipal1	APN	5	72658724	missense	probably benign
IGL01894:Nipal1	APN	5	72663539	missense	probably benign	0.02
IGL01962:Nipal1	APN	5	72668058	missense	possibly damaging	0.50
IGL02145:Nipal1	APN	5	72666931	missense	probably damaging	1.00
IGL02902:Nipal1	APN	5	72668062	missense	possibly damaging	0.49
IGL02934:Nipal1	APN	5	72647907	missense	probably damaging	1.00
IGL03024:Nipal1	APN	5	72663625	critical splice donor site	probably null
IGL03237:Nipal1	APN	5	72666807	missense	probably damaging	0.99
R0848:Nipal1	UTSW	5	72667840	missense	probably damaging	0.99
R1024:Nipal1	UTSW	5	72667991	frame shift	probably null
R2106:Nipal1	UTSW	5	72663559	missense	probably damaging	0.99
R2883:Nipal1	UTSW	5	72667730	missense	probably damaging	1.00
R2932:Nipal1	UTSW	5	72667635	missense	possibly damaging	0.46
R5364:Nipal1	UTSW	5	72667900	missense	probably damaging	1.00
R6175:Nipal1	UTSW	5	72663555	missense	probably damaging	1.00
R6523:Nipal1	UTSW	5	72667608	missense	probably damaging	0.97
R7185:Nipal1	UTSW	5	72666855	missense	probably damaging	0.98
R7436:Nipal1	UTSW	5	72667641	missense	probably benign	0.00
R9388:Nipal1	UTSW	5	72668214	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GATTCAGGGTGTCTCAGCATC -3'
(R):5'- AGTGTCACCACAGATTTCCTC -3'

Sequencing Primer
(F):5'- TCAGGGTGTCTCAGCATCACATG -3'
(R):5'- TGCTGGAAATGTCAGCACTC -3'

Posted On

2019-12-04