Mutagenetix > Incidental Mutation

Incidental Mutation 'R8914:Nckap5l'

678852

Institutional Source

Beutler Lab

Gene Symbol

Nckap5l

Ensembl Gene

ENSMUSG00000023009

Gene Name

NCK-associated protein 5-like

Synonyms

C230021P08Rik

MMRRC Submission

068766-MU

Accession Numbers

Essential gene?

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

Stock #

R8914 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99319916-99355629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99323761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 914 (G914D)

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: G914D

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

SMART Domains

Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: G914D

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	C	T	7: 107,223,922 (GRCm39)	E51K	unknown	Het
Akr1c20	T	C	13: 4,561,215 (GRCm39)	D146G	probably benign	Het
Anapc4	T	A	5: 53,000,843 (GRCm39)	C205*	probably null	Het
Ap3s2	A	G	7: 79,564,911 (GRCm39)	I86T	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp9a	C	T	2: 168,479,420 (GRCm39)		probably null	Het
Bcl11b	C	A	12: 107,883,163 (GRCm39)	R384L	probably damaging	Het
Bltp3a	T	G	17: 28,105,887 (GRCm39)	D804E	possibly damaging	Het
Brca2	T	A	5: 150,465,208 (GRCm39)	D1657E	probably damaging	Het
Cabyr	C	A	18: 12,884,077 (GRCm39)	T188N	probably damaging	Het
Capn5	C	A	7: 97,784,997 (GRCm39)	W159L	probably damaging	Het
Ccdc121rt3	A	T	5: 112,503,087 (GRCm39)	Y206N	probably damaging	Het
Ccnl1	A	T	3: 65,854,080 (GRCm39)	S514T	unknown	Het
Cdk14	G	T	5: 5,086,515 (GRCm39)	H286Q	possibly damaging	Het
Cpsf3	T	A	12: 21,345,112 (GRCm39)	H141Q	probably damaging	Het
Ddx24	A	G	12: 103,390,665 (GRCm39)	S109P	possibly damaging	Het
Dnmt3a	A	T	12: 3,916,192 (GRCm39)	R126*	probably null	Het
Dpys	C	A	15: 39,720,619 (GRCm39)	R47L	probably benign	Het
Dync1li2	A	G	8: 105,152,090 (GRCm39)	V361A	probably benign	Het
Epha7	T	G	4: 28,963,892 (GRCm39)	D962E	probably damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fyb2	T	C	4: 104,857,700 (GRCm39)	S626P	probably benign	Het
Gtpbp1	T	A	15: 79,600,393 (GRCm39)	V442D	probably damaging	Het
Hecw1	T	A	13: 14,422,188 (GRCm39)	I973F	probably damaging	Het
Igkv1-99	A	C	6: 68,519,340 (GRCm39)	K99T		Het
Igkv6-14	C	T	6: 70,412,180 (GRCm39)	V35I	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klk1b9	C	T	7: 43,628,925 (GRCm39)	T143I	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Mettl15	A	C	2: 108,967,625 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,299,595 (GRCm39)	V1813A		Het
Mrps30	A	G	13: 118,523,755 (GRCm39)	Y6H	possibly damaging	Het
Mthfd1	T	A	12: 76,329,710 (GRCm39)	I176K	probably benign	Het
Nemf	C	A	12: 69,363,089 (GRCm39)	E930*	probably null	Het
Nuggc	G	A	14: 65,879,354 (GRCm39)	V705I	probably benign	Het
Omd	A	T	13: 49,745,718 (GRCm39)	K376M	probably damaging	Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4k42	C	A	2: 111,320,004 (GRCm39)	L166F	probably damaging	Het
Or51l14	T	A	7: 103,101,090 (GRCm39)	L182Q	probably damaging	Het
Or5g27	A	G	2: 85,410,056 (GRCm39)	T158A	possibly damaging	Het
Or5p68	A	G	7: 107,945,759 (GRCm39)	V143A	probably benign	Het
Or6c200-ps1	C	A	10: 128,871,372 (GRCm39)	M2I	probably benign	Het
Pi15	A	G	1: 17,691,962 (GRCm39)	Y217C	probably damaging	Het
Pou5f1	T	C	17: 35,821,371 (GRCm39)	S328P	probably benign	Het
Pparg	T	A	6: 115,440,133 (GRCm39)	S236T	probably benign	Het
Prss23	T	C	7: 89,159,854 (GRCm39)	T72A	probably benign	Het
Ptprb	C	A	10: 116,158,567 (GRCm39)	S546*	probably null	Het
Ranbp9	A	G	13: 43,578,560 (GRCm39)	I171T	probably benign	Het
Rap1gap2	A	T	11: 74,326,587 (GRCm39)	L160*	probably null	Het
Rfxap	T	C	3: 54,715,042 (GRCm39)	T19A	probably benign	Het
Sctr	T	A	1: 119,959,386 (GRCm39)	F95I	probably benign	Het
Sf3b3	T	A	8: 111,540,439 (GRCm39)	Q994L	probably benign	Het
Slfn9	A	T	11: 82,872,132 (GRCm39)	I868N	probably damaging	Het
Top3a	A	T	11: 60,631,405 (GRCm39)	C986S	probably damaging	Het
Trak1	T	A	9: 121,272,847 (GRCm39)	L245Q	unknown	Het
Trim27	A	G	13: 21,364,993 (GRCm39)	D110G	possibly damaging	Het
Ubxn2a	T	C	12: 4,930,754 (GRCm39)	D202G	probably benign	Het
Urb1	T	C	16: 90,607,122 (GRCm39)	K36R	probably damaging	Het
Usp34	A	G	11: 23,293,604 (GRCm39)	T252A		Het
Vmn1r73	C	A	7: 11,490,328 (GRCm39)	H49N	probably damaging	Het
Vmn2r117	C	T	17: 23,679,143 (GRCm39)	V694I	probably benign	Het
Vmn2r26	T	C	6: 124,038,983 (GRCm39)	F853L	probably benign	Het
Vmn2r55	A	T	7: 12,405,024 (GRCm39)	H126Q	probably benign	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
R8393:Nckap5l	UTSW	15	99,325,050 (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
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'- TGATACATGCCGGCTAGCTG -3'
(R):5'- GATTGTGGCAGCACAGTTGG -3'

Sequencing Primer
(F):5'- TTCCTCTAGGGCTCGGC -3'
(R):5'- AGTTGGCCAGCCTACATCC -3'

Posted On

2021-08-02