Mutagenetix > Incidental Mutation

Incidental Mutation 'R9388:Nipal1'

710422

Institutional Source

Beutler Lab

Gene Symbol

Nipal1

Ensembl Gene

ENSMUSG00000067219

Gene Name

NIPA-like domain containing 1

Synonyms

Npal1, 3830408G10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R9388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72805139-72828421 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 72825557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 417 (*417R)

Ref Sequence

ENSEMBL: ENSMUSP00000084462 (fasta)

Gene Model

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

AlphaFold

Q8BMW7

Predicted Effect

probably null
Transcript: ENSMUST00000087212
AA Change: *417R

SMART Domains

Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: *417R

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

SMART Domains

Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,338,714 (GRCm39)	T433S	probably benign	Het
Abca14	A	G	7: 119,882,261 (GRCm39)	D1141G	probably benign	Het
Abca17	A	G	17: 24,483,273 (GRCm39)	S1728P	unknown	Het
Adam29	A	C	8: 56,325,285 (GRCm39)	C390G	probably damaging	Het
Angptl4	G	A	17: 33,996,158 (GRCm39)	R273*	probably null	Het
Arfgef3	T	C	10: 18,505,877 (GRCm39)	N929S	probably benign	Het
Baiap3	A	G	17: 25,466,109 (GRCm39)		probably null	Het
Btla	T	C	16: 45,059,454 (GRCm39)	S53P	probably damaging	Het
Cand1	A	G	10: 119,047,213 (GRCm39)	F759S	possibly damaging	Het
Cbll1	T	C	12: 31,541,567 (GRCm39)	T104A	probably benign	Het
Chd7	A	G	4: 8,865,756 (GRCm39)	M2688V	possibly damaging	Het
Cnot3	C	A	7: 3,661,367 (GRCm39)	H625Q	possibly damaging	Het
Dbn1	T	C	13: 55,624,088 (GRCm39)	I381V	probably benign	Het
Dennd2d	T	A	3: 106,395,915 (GRCm39)	N135K	possibly damaging	Het
Dnah7c	T	C	1: 46,779,886 (GRCm39)	I3196T	probably damaging	Het
Dock2	C	A	11: 34,212,460 (GRCm39)	R1227L	possibly damaging	Het
Esr1	A	G	10: 4,919,179 (GRCm39)	E423G	probably benign	Het
Ganab	A	G	19: 8,892,302 (GRCm39)	Q826R	probably damaging	Het
Herc4	T	A	10: 63,143,522 (GRCm39)	M684K	probably benign	Het
Hipk2	A	G	6: 38,707,956 (GRCm39)	L613P	probably damaging	Het
Hpf1	A	T	8: 61,353,182 (GRCm39)	I188L	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Kif1a	C	A	1: 93,000,029 (GRCm39)		probably null	Het
Kng1	A	T	16: 22,898,388 (GRCm39)	Y596F	possibly damaging	Het
Lrrc8d	T	A	5: 105,961,862 (GRCm39)	H757Q	probably damaging	Het
Med24	A	T	11: 98,600,893 (GRCm39)	I600N	possibly damaging	Het
Mmp10	G	A	9: 7,504,170 (GRCm39)	W203*	probably null	Het
Mnt	C	T	11: 74,727,450 (GRCm39)	A112V	probably benign	Het
Myh7b	A	T	2: 155,472,983 (GRCm39)	N1415Y	probably benign	Het
Nlrp4c	C	T	7: 6,069,874 (GRCm39)	Q592*	probably null	Het
Obscn	T	C	11: 58,943,489 (GRCm39)	E4220G	probably damaging	Het
Or10al7	C	T	17: 38,366,148 (GRCm39)	C103Y	probably damaging	Het
Or13a23-ps1	G	T	7: 140,118,928 (GRCm39)	C166F	unknown	Het
Or2w1b	T	C	13: 21,300,774 (GRCm39)	L304P	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,853 (GRCm39)	I460F	probably benign	Het
Prb1b	T	C	6: 132,289,437 (GRCm39)	Q129R	unknown	Het
Primpol	G	A	8: 47,034,605 (GRCm39)	T441I	possibly damaging	Het
Ptprc	A	G	1: 138,011,380 (GRCm39)	V583A	possibly damaging	Het
Rfx6	T	C	10: 51,554,117 (GRCm39)	V71A	possibly damaging	Het
Rgsl1	T	C	1: 153,693,355 (GRCm39)	I574V	probably benign	Het
Rims3	A	G	4: 120,748,552 (GRCm39)	I258V	possibly damaging	Het
Sec16b	T	C	1: 157,388,393 (GRCm39)	Y776H	probably benign	Het
Skint6	C	T	4: 113,049,838 (GRCm39)	D276N	possibly damaging	Het
Slc45a1	T	C	4: 150,727,067 (GRCm39)	D184G	probably damaging	Het
St6galnac4	A	T	2: 32,479,625 (GRCm39)	S61C	probably damaging	Het
Stab1	C	T	14: 30,876,312 (GRCm39)	V926M	probably damaging	Het
Stat1	A	T	1: 52,193,037 (GRCm39)	K642N	possibly damaging	Het
Tmprss3	A	G	17: 31,410,041 (GRCm39)	F191S	probably damaging	Het
Ube2o	T	C	11: 116,430,210 (GRCm39)	D1176G	possibly damaging	Het
Usp17ld	G	T	7: 102,900,145 (GRCm39)	N262K	probably benign	Het
Xpnpep1	T	C	19: 52,993,233 (GRCm39)	K365E	probably damaging	Het

Other mutations in Nipal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Nipal1	APN	5	72,816,067 (GRCm39)	missense	probably benign
IGL01894:Nipal1	APN	5	72,820,882 (GRCm39)	missense	probably benign	0.02
IGL01962:Nipal1	APN	5	72,825,401 (GRCm39)	missense	possibly damaging	0.50
IGL02145:Nipal1	APN	5	72,824,274 (GRCm39)	missense	probably damaging	1.00
IGL02902:Nipal1	APN	5	72,825,405 (GRCm39)	missense	possibly damaging	0.49
IGL02934:Nipal1	APN	5	72,805,250 (GRCm39)	missense	probably damaging	1.00
IGL03024:Nipal1	APN	5	72,820,968 (GRCm39)	critical splice donor site	probably null
IGL03237:Nipal1	APN	5	72,824,150 (GRCm39)	missense	probably damaging	0.99
R0848:Nipal1	UTSW	5	72,825,183 (GRCm39)	missense	probably damaging	0.99
R1024:Nipal1	UTSW	5	72,825,334 (GRCm39)	frame shift	probably null
R2106:Nipal1	UTSW	5	72,820,902 (GRCm39)	missense	probably damaging	0.99
R2883:Nipal1	UTSW	5	72,825,073 (GRCm39)	missense	probably damaging	1.00
R2932:Nipal1	UTSW	5	72,824,978 (GRCm39)	missense	possibly damaging	0.46
R5364:Nipal1	UTSW	5	72,825,243 (GRCm39)	missense	probably damaging	1.00
R6175:Nipal1	UTSW	5	72,820,898 (GRCm39)	missense	probably damaging	1.00
R6523:Nipal1	UTSW	5	72,824,951 (GRCm39)	missense	probably damaging	0.97
R7185:Nipal1	UTSW	5	72,824,198 (GRCm39)	missense	probably damaging	0.98
R7436:Nipal1	UTSW	5	72,824,984 (GRCm39)	missense	probably benign	0.00
RF011:Nipal1	UTSW	5	72,824,156 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCATCGGTACCCTGAGCG -3'
(R):5'- CTTCTGTTGAGCTCAGGGAC -3'

Sequencing Primer
(F):5'- CTGAGCGGGTTCTTCACC -3'
(R):5'- ACTGTTTCGGTGGTTTTGAAAAC -3'

Posted On

2022-04-18