Mutagenetix > Incidental Mutation

Incidental Mutation 'R7185:Nipal1'

559228

Institutional Source

Beutler Lab

Gene Symbol

Nipal1

Ensembl Gene

ENSMUSG00000067219

Gene Name

NIPA-like domain containing 1

Synonyms

3830408G10Rik, Npal1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72647795-72671078 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72666855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 181 (S181T)

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: S181T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: S181T

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 damaging
Transcript: ENSMUST00000197837
AA Change: S92T

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

SMART Domains

Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219
AA Change: S92T

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600002K03Rik	G	A	10: 80,173,129	G55E	probably damaging	Het
2610044O15Rik8	A	T	8: 129,220,021	C108S	probably benign	Het
4930430F08Rik	T	C	10: 100,589,211		probably benign	Het
Afmid	T	A	11: 117,834,773	D95E	possibly damaging	Het
Ak7	A	G	12: 105,742,276	E330G	probably damaging	Het
B3gat2	A	C	1: 23,763,191	D186A	probably damaging	Het
Baz1a	G	A	12: 54,975,308	T63M	probably damaging	Het
Bhmt2	A	T	13: 93,663,271	M219K	probably benign	Het
Cd200r1	A	G	16: 44,789,612	T65A	probably benign	Het
Cdc14a	T	C	3: 116,294,027	E494G	probably benign	Het
Cenpf	A	G	1: 189,653,489	L2198P	probably damaging	Het
Col4a2	T	A	8: 11,399,739	D117E	probably damaging	Het
Ddr2	C	A	1: 169,987,054	V607L	probably damaging	Het
Dennd4c	A	G	4: 86,811,450	Y763C	probably damaging	Het
Ecscr	T	A	18: 35,716,804	T93S	probably benign	Het
Eogt	C	T	6: 97,120,178	R321H	probably damaging	Het
Fras1	T	C	5: 96,636,776	S873P	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 142,156,529		probably benign	Het
Gm8247	A	G	14: 44,586,402	I182V		Het
Gpatch2	T	C	1: 187,226,197	S250P	probably damaging	Het
Gramd1b	T	C	9: 40,333,563	D183G	probably benign	Het
Hspa5	T	C	2: 34,775,126	V433A	probably damaging	Het
Igkv8-30	C	A	6: 70,117,606	Q4H	probably benign	Het
Igkv8-30	T	G	6: 70,117,607	Q4P	probably damaging	Het
Kcnj5	T	G	9: 32,322,176	N281T	probably damaging	Het
L1td1	A	G	4: 98,736,618	E350G	possibly damaging	Het
Layn	T	C	9: 51,073,873	T128A	possibly damaging	Het
Liph	T	C	16: 21,995,339	M11V	probably benign	Het
Lrp1b	C	T	2: 40,801,512		probably null	Het
Mcrip1	A	C	11: 120,544,679		probably null	Het
Myh1	G	A	11: 67,207,459	E486K	probably damaging	Het
Nav1	T	C	1: 135,471,008	K612R	possibly damaging	Het
Nek10	A	G	14: 14,846,621	K245E	probably benign	Het
Nme8	A	C	13: 19,677,883	L192R	probably damaging	Het
Nol7	G	A	13: 43,406,831		probably null	Het
Oas1b	G	A	5: 120,817,772	R205H	not run	Het
Olfr1138	A	G	2: 87,738,145	Y60H	probably damaging	Het
Olfr1305	T	G	2: 111,873,822	E11A	possibly damaging	Het
Olfr71	A	G	4: 43,706,082	I162T	possibly damaging	Het
Pcdhgb6	T	C	18: 37,743,648	S470P	probably benign	Het
Pdzk1ip1	A	T	4: 115,089,108	H55L	possibly damaging	Het
Pibf1	T	A	14: 99,107,316	M124K	possibly damaging	Het
Prr36	C	T	8: 4,216,458	G31R	probably damaging	Het
Ptchd4	C	A	17: 42,503,188	A660D	probably damaging	Het
Qsox2	A	G	2: 26,220,706	V166A	possibly damaging	Het
Rb1cc1	A	T	1: 6,238,383	Y164F	probably damaging	Het
Rest	C	A	5: 77,282,484	H917N	probably benign	Het
Rnf213	T	C	11: 119,424,198	C955R		Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec11c	T	A	18: 65,814,892	D134E	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spo11	T	A	2: 172,982,192		probably null	Het
Srd5a3	T	C	5: 76,153,572	I216T	probably benign	Het
Tcaf3	T	C	6: 42,593,930	N296S	probably benign	Het
Tepsin	T	C	11: 120,093,817	D259G	probably damaging	Het
Themis	G	A	10: 28,781,877	S300N	probably benign	Het
Trhr2	T	A	8: 122,360,657	T15S	probably benign	Het
Uts2r	T	C	11: 121,160,880	V190A	probably benign	Het
Vmn2r77	A	C	7: 86,801,827	D307A	probably benign	Het
Xpa	G	T	4: 46,183,078	T237K	probably benign	Het
Zfp335	A	G	2: 164,893,244		probably null	Het
Zfp451	A	T	1: 33,769,893	D962E	probably damaging	Het
Zfp60	A	G	7: 27,738,405	T46A	probably damaging	Het
Zfy1	G	A	Y: 725,464	S767L	possibly damaging	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
R7436:Nipal1	UTSW	5	72667641	missense	probably benign	0.00
R9388:Nipal1	UTSW	5	72668214	makesense	probably null
RF011:Nipal1	UTSW	5	72666813	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGGGGTACAGAGTGACATAC -3'
(R):5'- CCTCAGTGTCACCACAGATTTC -3'

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

Posted On

2019-06-26