Mutagenetix > Incidental Mutation

Incidental Mutation 'R8393:Nckap5l'

647496

Institutional Source

Beutler Lab

Gene Symbol

Nckap5l

Ensembl Gene

ENSMUSG00000023009

Gene Name

NCK-associated protein 5-like

Synonyms

C230021P08Rik

MMRRC Submission

067811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R8393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99319916-99355629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99325050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 484 (C484W)

Ref Sequence

ENSEMBL: ENSMUSP00000023747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023747] [ENSMUST00000161948]

AlphaFold

Q6GQX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023747
AA Change: C484W

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

SMART Domains

Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: C484W

Domain	Start	End	E-Value	Type
coiled coil region	22	104	N/A	INTRINSIC
low complexity region	111	122	N/A	INTRINSIC
low complexity region	158	178	N/A	INTRINSIC
low complexity region	223	235	N/A	INTRINSIC
low complexity region	240	251	N/A	INTRINSIC
low complexity region	271	298	N/A	INTRINSIC
low complexity region	351	364	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
low complexity region	566	574	N/A	INTRINSIC
low complexity region	633	645	N/A	INTRINSIC
low complexity region	799	817	N/A	INTRINSIC
Pfam:NCKAP5	871	1173	6.8e-89	PFAM
low complexity region	1205	1217	N/A	INTRINSIC
low complexity region	1302	1318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161004

SMART Domains

Protein: ENSMUSP00000125080
Gene: ENSMUSG00000023009

Domain	Start	End	E-Value	Type
Pfam:NCKAP5	5	112	1.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161948

SMART Domains

Protein: ENSMUSP00000123858
Gene: ENSMUSG00000023009

Domain	Start	End	E-Value	Type
coiled coil region	22	104	N/A	INTRINSIC
low complexity region	111	122	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,617,390 (GRCm39)	T239A	probably benign	Het
Adgrg7	A	G	16: 56,582,477 (GRCm39)	S258P	probably damaging	Het
Capn10	T	A	1: 92,871,130 (GRCm39)	D313E	probably benign	Het
Caprin2	A	G	6: 148,770,650 (GRCm39)	V448A	probably benign	Het
Casr	A	G	16: 36,330,566 (GRCm39)	V256A	probably benign	Het
Cped1	A	G	6: 22,222,465 (GRCm39)	T742A	possibly damaging	Het
Cyp2c39	G	T	19: 39,525,255 (GRCm39)	R186L	possibly damaging	Het
Dazl	A	T	17: 50,588,294 (GRCm39)	S294T	probably benign	Het
Dnah17	C	A	11: 117,947,855 (GRCm39)	V2982F	probably damaging	Het
Enpp3	C	A	10: 24,702,139 (GRCm39)	C71F	probably damaging	Het
Fam234a	A	G	17: 26,437,149 (GRCm39)	C177R	probably damaging	Het
Fbxl5	A	C	5: 43,925,433 (GRCm39)	Y186D	possibly damaging	Het
Fbxo43	T	C	15: 36,162,494 (GRCm39)	T238A	probably benign	Het
Fcgbp	A	G	7: 27,806,815 (GRCm39)	H2261R	probably benign	Het
Gm20939	C	T	17: 95,183,207 (GRCm39)	H148Y	probably damaging	Het
Gpat4	GTGTT	GT	8: 23,669,498 (GRCm39)		probably benign	Het
Gpr45	C	A	1: 43,071,395 (GRCm39)	H13N	probably benign	Het
Irf4	A	G	13: 30,947,610 (GRCm39)	D438G	probably damaging	Het
Kcnk1	T	C	8: 126,751,964 (GRCm39)	V190A	probably benign	Het
Klre1	A	T	6: 129,557,025 (GRCm39)	K42N	probably damaging	Het
Lmbrd2	C	T	15: 9,178,437 (GRCm39)	T499M	probably damaging	Het
Lrrc14	G	T	15: 76,598,398 (GRCm39)	G345C	probably damaging	Het
Matn2	A	G	15: 34,355,748 (GRCm39)	H251R	possibly damaging	Het
Mpnd	A	G	17: 56,323,568 (GRCm39)	E477G	probably damaging	Het
Muc17	C	T	5: 137,171,179 (GRCm39)	V151I		Het
Npas1	C	T	7: 16,195,266 (GRCm39)	S354N	probably damaging	Het
Or1e25	T	C	11: 73,494,261 (GRCm39)	L285P	probably damaging	Het
Or4k2	C	A	14: 50,424,342 (GRCm39)	E112*	probably null	Het
Or52ab2	A	T	7: 102,969,668 (GRCm39)	I17F		Het
Or52e3	T	C	7: 102,869,399 (GRCm39)	V158A	probably benign	Het
Or5w11	T	C	2: 87,459,197 (GRCm39)	L14P	probably damaging	Het
Or6c65	G	T	10: 129,604,304 (GRCm39)	*313L	probably null	Het
Or8d4	T	A	9: 40,038,360 (GRCm39)	H299L	probably benign	Het
Pabpc6	G	A	17: 9,887,435 (GRCm39)	P372L	probably damaging	Het
Pkd1	A	G	17: 24,791,621 (GRCm39)	N1103D	probably damaging	Het
Prelid2	C	T	18: 42,014,313 (GRCm39)	C171Y	probably benign	Het
R3hcc1	T	C	14: 69,942,890 (GRCm39)	Q229R	probably benign	Het
Rapgef6	T	C	11: 54,578,487 (GRCm39)	V1003A	probably benign	Het
Rbp3	T	A	14: 33,678,156 (GRCm39)	H701Q	possibly damaging	Het
Resf1	A	T	6: 149,229,998 (GRCm39)	T1015S	possibly damaging	Het
Rmdn2	T	C	17: 79,975,459 (GRCm39)		probably null	Het
Robo2	A	T	16: 73,775,382 (GRCm39)	W451R	probably damaging	Het
Sacs	T	A	14: 61,410,655 (GRCm39)	M1K	probably null	Het
Senp2	G	A	16: 21,850,864 (GRCm39)	G294R	probably damaging	Het
Setdb2	T	A	14: 59,650,180 (GRCm39)	H478L	probably benign	Het
Slc12a4	G	T	8: 106,678,451 (GRCm39)	A295E	probably damaging	Het
Slc12a9	C	T	5: 137,319,698 (GRCm39)	V606M	probably damaging	Het
Slc25a30	T	C	14: 76,012,451 (GRCm39)	K66E	probably benign	Het
Slc39a6	T	C	18: 24,732,331 (GRCm39)	E319G	possibly damaging	Het
Sorbs3	T	A	14: 70,422,360 (GRCm39)	T617S	probably benign	Het
Speer4a3	A	T	5: 26,158,076 (GRCm39)	V92E	probably damaging	Het
Spef2	T	G	15: 9,676,615 (GRCm39)	D652A	probably benign	Het
Stag3	T	C	5: 138,295,017 (GRCm39)	M347T	probably damaging	Het
Tecpr2	A	T	12: 110,911,191 (GRCm39)	D1076V	probably damaging	Het
Tor2a	G	A	2: 32,651,648 (GRCm39)	V288I	probably benign	Het
Usp30	C	T	5: 114,259,826 (GRCm39)	R511*	probably null	Het
Vezt	T	C	10: 93,832,704 (GRCm39)	T236A	probably damaging	Het
Zmynd12	A	T	4: 119,305,352 (GRCm39)	D264V	probably damaging	Het

Other mutations in Nckap5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02407:Nckap5l	APN	15	99,321,008 (GRCm39)	unclassified	probably benign
IGL02568:Nckap5l	APN	15	99,323,564 (GRCm39)	missense	probably damaging	1.00
IGL02615:Nckap5l	APN	15	99,327,263 (GRCm39)	missense	possibly damaging	0.89
IGL02896:Nckap5l	APN	15	99,325,091 (GRCm39)	missense	possibly damaging	0.89
R0653:Nckap5l	UTSW	15	99,321,127 (GRCm39)	missense	probably damaging	1.00
R1931:Nckap5l	UTSW	15	99,325,142 (GRCm39)	missense	probably damaging	1.00
R1969:Nckap5l	UTSW	15	99,320,699 (GRCm39)	missense	probably damaging	1.00
R4434:Nckap5l	UTSW	15	99,320,744 (GRCm39)	missense	probably benign
R4490:Nckap5l	UTSW	15	99,324,011 (GRCm39)	missense	probably benign	0.00
R4606:Nckap5l	UTSW	15	99,327,204 (GRCm39)	unclassified	probably benign
R4817:Nckap5l	UTSW	15	99,321,067 (GRCm39)	missense	probably damaging	1.00
R5008:Nckap5l	UTSW	15	99,323,731 (GRCm39)	missense	possibly damaging	0.68
R5011:Nckap5l	UTSW	15	99,324,457 (GRCm39)	missense	probably benign	0.20
R5013:Nckap5l	UTSW	15	99,324,457 (GRCm39)	missense	probably benign	0.20
R5503:Nckap5l	UTSW	15	99,323,503 (GRCm39)	missense	probably damaging	1.00
R5627:Nckap5l	UTSW	15	99,325,587 (GRCm39)	missense	possibly damaging	0.69
R5715:Nckap5l	UTSW	15	99,321,457 (GRCm39)	missense	probably benign	0.01
R6000:Nckap5l	UTSW	15	99,324,766 (GRCm39)	missense	probably damaging	1.00
R6072:Nckap5l	UTSW	15	99,324,535 (GRCm39)	missense	probably damaging	1.00
R6104:Nckap5l	UTSW	15	99,321,869 (GRCm39)	missense	probably benign
R6198:Nckap5l	UTSW	15	99,323,869 (GRCm39)	missense	probably damaging	1.00
R6225:Nckap5l	UTSW	15	99,325,905 (GRCm39)	missense	possibly damaging	0.94
R6529:Nckap5l	UTSW	15	99,324,475 (GRCm39)	missense	probably benign	0.27
R6751:Nckap5l	UTSW	15	99,321,042 (GRCm39)	missense	probably damaging	1.00
R6866:Nckap5l	UTSW	15	99,324,349 (GRCm39)	missense	probably benign
R6869:Nckap5l	UTSW	15	99,324,334 (GRCm39)	missense	probably damaging	1.00
R7163:Nckap5l	UTSW	15	99,331,354 (GRCm39)	missense	probably damaging	0.98
R7174:Nckap5l	UTSW	15	99,321,884 (GRCm39)	missense	probably benign	0.09
R7239:Nckap5l	UTSW	15	99,324,090 (GRCm39)	missense	probably damaging	1.00
R7447:Nckap5l	UTSW	15	99,325,357 (GRCm39)	missense	probably damaging	1.00
R7479:Nckap5l	UTSW	15	99,321,127 (GRCm39)	missense	probably damaging	1.00
R7519:Nckap5l	UTSW	15	99,324,128 (GRCm39)	missense	probably benign	0.01
R7554:Nckap5l	UTSW	15	99,327,261 (GRCm39)	missense	probably benign	0.01
R7562:Nckap5l	UTSW	15	99,321,166 (GRCm39)	splice site	probably null
R8307:Nckap5l	UTSW	15	99,321,058 (GRCm39)	missense	probably damaging	1.00
R8446:Nckap5l	UTSW	15	99,323,930 (GRCm39)	missense	probably benign	0.12
R8754:Nckap5l	UTSW	15	99,327,290 (GRCm39)	missense	probably benign
R8914:Nckap5l	UTSW	15	99,323,761 (GRCm39)	missense	probably damaging	1.00
R9000:Nckap5l	UTSW	15	99,321,310 (GRCm39)	missense	probably damaging	1.00
X0062:Nckap5l	UTSW	15	99,327,291 (GRCm39)	missense	probably benign	0.00
Z1177:Nckap5l	UTSW	15	99,322,082 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATGTTTTCAAAGCAGGGAGAC -3'
(R):5'- CTCATCTCAGGTGAAAAGCAAGC -3'

Sequencing Primer
(F):5'- TGTTTTCAAAGCAGGGAGACACTAC -3'
(R):5'- AGCAAGCTCCAGATTGGGC -3'

Posted On

2020-09-02