Mutagenetix > Incidental Mutation

Incidental Mutation 'R7899:Nfxl1'

609881

Institutional Source

Beutler Lab

Gene Symbol

Nfxl1

Ensembl Gene

ENSMUSG00000072889

Gene Name

nuclear transcription factor, X-box binding-like 1

Synonyms

D430033A06Rik, LOC381696, 1700012H24Rik, TCF9

MMRRC Submission

045951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7899 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72670644-72717027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72681558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 658 (P658S)

Ref Sequence

ENSEMBL: ENSMUSP00000084467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087216] [ENSMUST00000135318]

AlphaFold

E9Q8I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000087216
AA Change: P658S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084467
Gene: ENSMUSG00000072889
AA Change: P658S

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	25	64	N/A	INTRINSIC
low complexity region	106	125	N/A	INTRINSIC
low complexity region	134	142	N/A	INTRINSIC
RING	167	226	4.99e-1	SMART
ZnF_NFX	272	290	2.83e-3	SMART
ZnF_NFX	325	344	1.42e-3	SMART
ZnF_NFX	378	397	2.88e-4	SMART
ZnF_NFX	431	450	5.01e-4	SMART
ZnF_NFX	458	479	1.67e2	SMART
ZnF_NFX	483	502	9.71e-2	SMART
ZnF_NFX	510	529	3.49e-3	SMART
ZnF_NFX	567	587	4.56e1	SMART
Pfam:zf-NF-X1	596	608	6.8e-3	PFAM
ZnF_NFX	677	710	4.23e1	SMART
ZnF_NFX	720	738	5.49e-1	SMART
ZnF_NFX	782	801	1.63e-3	SMART
coiled coil region	829	880	N/A	INTRINSIC
transmembrane domain	897	914	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135318

SMART Domains

Protein: ENSMUSP00000114355
Gene: ENSMUSG00000072889

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	25	64	N/A	INTRINSIC
low complexity region	106	125	N/A	INTRINSIC
low complexity region	134	142	N/A	INTRINSIC
RING	167	226	4.99e-1	SMART
ZnF_NFX	272	290	2.83e-3	SMART
ZnF_NFX	325	344	1.42e-3	SMART
ZnF_NFX	378	397	2.88e-4	SMART
ZnF_NFX	431	450	5.01e-4	SMART
ZnF_NFX	458	479	1.67e2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	T	C	5: 114,947,381 (GRCm39)	T49A	possibly damaging	Het
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Aagab	T	C	9: 63,524,132 (GRCm39)	F80L	probably benign	Het
Aox1	A	G	1: 58,320,396 (GRCm39)		probably null	Het
Arhgef2	T	C	3: 88,528,569 (GRCm39)	S2P	probably damaging	Het
Bcar3	T	G	3: 122,301,902 (GRCm39)	V199G	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1a	G	A	8: 85,320,802 (GRCm39)	V1587M	possibly damaging	Het
Caps2	C	A	10: 112,001,666 (GRCm39)	S19Y	possibly damaging	Het
Ccdc196	A	G	12: 78,244,196 (GRCm39)	N50D		Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cobll1	A	G	2: 64,956,275 (GRCm39)	C328R	probably damaging	Het
Colec11	A	C	12: 28,645,281 (GRCm39)	V130G	probably damaging	Het
Dennd5b	A	T	6: 148,943,159 (GRCm39)	D572E	probably damaging	Het
Dido1	A	T	2: 180,313,390 (GRCm39)	S961T	possibly damaging	Het
Dnah7c	A	T	1: 46,553,861 (GRCm39)	M380L	probably benign	Het
Dnai2	T	C	11: 114,629,456 (GRCm39)	I161T	probably benign	Het
Dnttip2	T	A	3: 122,076,018 (GRCm39)	M650K	probably damaging	Het
Dpp6	C	T	5: 27,926,077 (GRCm39)	P717L	probably benign	Het
Epha10	A	G	4: 124,808,628 (GRCm39)	E759G		Het
Frmd4a	T	C	2: 4,608,900 (GRCm39)	W923R	probably damaging	Het
Ftsj3	C	A	11: 106,143,115 (GRCm39)	E400*	probably null	Het
Gabra4	C	A	5: 71,815,338 (GRCm39)		probably benign	Het
Gfm1	T	A	3: 67,380,860 (GRCm39)	N658K	probably benign	Het
Gm21560	A	T	14: 6,218,220 (GRCm38)	I86N	probably damaging	Het
Gpr68	C	A	12: 100,844,707 (GRCm39)	C279F	probably damaging	Het
Hspg2	G	A	4: 137,275,427 (GRCm39)	A2752T	possibly damaging	Het
Hydin	A	T	8: 111,314,380 (GRCm39)	D4288V	probably benign	Het
Ift74	A	G	4: 94,510,214 (GRCm39)	T82A	possibly damaging	Het
Ints7	T	A	1: 191,353,427 (GRCm39)	W918R	probably damaging	Het
Kcnc1	T	A	7: 46,077,245 (GRCm39)	I349N	probably damaging	Het
Loxl1	C	T	9: 58,198,117 (GRCm39)	D580N	probably damaging	Het
Mlph	A	T	1: 90,869,485 (GRCm39)	R496*	probably null	Het
Mtdh	A	G	15: 34,123,865 (GRCm39)	D364G	possibly damaging	Het
Mtmr11	C	A	3: 96,077,744 (GRCm39)	L580I	probably damaging	Het
Muc16	T	C	9: 18,551,993 (GRCm39)	I4767V	probably benign	Het
Muc21	TCAGGGTGGGGGTAGAGCCTGAGCCACTGCTAGATGCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAG	TCAGGGTGGGGGTAGAGCCTGAG	17: 35,931,493 (GRCm39)		probably benign	Het
Myot	A	G	18: 44,487,251 (GRCm39)	T363A	probably benign	Het
Nhlrc3	A	C	3: 53,369,080 (GRCm39)	S120A	probably benign	Het
Nmur2	C	A	11: 55,931,161 (GRCm39)	Q183H	probably benign	Het
Nucb2	T	A	7: 116,121,205 (GRCm39)	I45K	probably benign	Het
Nup155	A	T	15: 8,148,663 (GRCm39)	D277V	probably damaging	Het
Or5ak25	T	C	2: 85,268,741 (GRCm39)	T254A	probably benign	Het
Orc1	T	G	4: 108,460,568 (GRCm39)		probably null	Het
Panx2	A	G	15: 88,952,936 (GRCm39)	T468A	possibly damaging	Het
Pcdh7	A	G	5: 57,877,152 (GRCm39)	S236G	probably benign	Het
Pcdhga2	G	C	18: 37,803,910 (GRCm39)	G585R	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pgr	T	G	9: 8,903,743 (GRCm39)	M588R	probably benign	Het
Ptpn18	A	T	1: 34,508,986 (GRCm39)		probably null	Het
Rbm8a2	T	A	1: 175,806,207 (GRCm39)	H90L	probably benign	Het
Ryr3	A	T	2: 112,477,295 (GRCm39)	L4507Q	possibly damaging	Het
Serpina12	A	G	12: 104,004,524 (GRCm39)	V36A	probably benign	Het
Sis	T	A	3: 72,844,584 (GRCm39)	S717C	probably damaging	Het
Slit2	A	G	5: 48,404,527 (GRCm39)	E846G	possibly damaging	Het
Smr3a	C	T	5: 88,156,086 (GRCm39)	H85Y	unknown	Het
Sned1	G	C	1: 93,201,804 (GRCm39)	R590P	probably benign	Het
Spata31h1	A	G	10: 82,118,731 (GRCm39)	S4760P	unknown	Het
Sting1	A	G	18: 35,867,626 (GRCm39)	S357P	probably damaging	Het
Sult2a7	A	G	7: 14,199,134 (GRCm39)	Y298H	probably damaging	Het
Syn3	A	G	10: 85,900,793 (GRCm39)	V365A	possibly damaging	Het
Syne1	A	T	10: 5,177,956 (GRCm39)	Y4839*	probably null	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tbl3	G	T	17: 24,921,458 (GRCm39)	H478N	probably damaging	Het
Tcirg1	A	T	19: 3,949,104 (GRCm39)	I395N	probably damaging	Het
Ticrr	T	C	7: 79,319,233 (GRCm39)	I406T	probably benign	Het
Tmem120a	C	A	5: 135,766,052 (GRCm39)	K123N	probably benign	Het
Tmem184c	A	G	8: 78,324,440 (GRCm39)	V350A	probably damaging	Het
Tmem70	G	T	1: 16,747,268 (GRCm39)	M128I	probably benign	Het
Tmx3	A	T	18: 90,545,998 (GRCm39)		probably null	Het
Topors	G	C	4: 40,260,356 (GRCm39)	S976W	unknown	Het
Trp53	T	C	11: 69,481,519 (GRCm39)	L341P	probably damaging	Het
Usp14	T	C	18: 10,000,563 (GRCm39)	K366E	possibly damaging	Het
Zbtb49	G	T	5: 38,371,274 (GRCm39)	C202*	probably null	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het

Other mutations in Nfxl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01094:Nfxl1	APN	5	72,707,771 (GRCm39)	splice site	probably benign
IGL01716:Nfxl1	APN	5	72,698,277 (GRCm39)	missense	probably damaging	1.00
IGL02592:Nfxl1	APN	5	72,671,572 (GRCm39)	missense	probably benign	0.25
IGL03083:Nfxl1	APN	5	72,698,005 (GRCm39)	splice site	probably benign
FR4548:Nfxl1	UTSW	5	72,716,458 (GRCm39)	small insertion	probably benign
FR4737:Nfxl1	UTSW	5	72,716,464 (GRCm39)	small insertion	probably benign
R0478:Nfxl1	UTSW	5	72,681,988 (GRCm39)	critical splice donor site	probably null
R0725:Nfxl1	UTSW	5	72,716,473 (GRCm39)	missense	probably benign
R1374:Nfxl1	UTSW	5	72,681,488 (GRCm39)	missense	probably benign	0.04
R1616:Nfxl1	UTSW	5	72,686,380 (GRCm39)	missense	probably benign	0.01
R1752:Nfxl1	UTSW	5	72,698,218 (GRCm39)	missense	probably damaging	1.00
R2108:Nfxl1	UTSW	5	72,671,675 (GRCm39)	critical splice acceptor site	probably null
R3081:Nfxl1	UTSW	5	72,686,378 (GRCm39)	missense	possibly damaging	0.92
R3693:Nfxl1	UTSW	5	72,697,954 (GRCm39)	missense	probably damaging	0.99
R3725:Nfxl1	UTSW	5	72,674,405 (GRCm39)	missense	probably damaging	1.00
R4660:Nfxl1	UTSW	5	72,710,011 (GRCm39)	missense	probably damaging	1.00
R5058:Nfxl1	UTSW	5	72,713,582 (GRCm39)	missense	probably benign	0.03
R5406:Nfxl1	UTSW	5	72,713,541 (GRCm39)	missense	possibly damaging	0.92
R5447:Nfxl1	UTSW	5	72,686,512 (GRCm39)	missense	probably benign	0.01
R5634:Nfxl1	UTSW	5	72,686,833 (GRCm39)	missense	probably damaging	1.00
R5831:Nfxl1	UTSW	5	72,679,540 (GRCm39)	missense	probably benign
R5910:Nfxl1	UTSW	5	72,697,708 (GRCm39)	missense	probably benign	0.05
R6086:Nfxl1	UTSW	5	72,698,362 (GRCm39)	missense	probably benign	0.39
R6091:Nfxl1	UTSW	5	72,671,533 (GRCm39)	missense	probably benign	0.00
R6212:Nfxl1	UTSW	5	72,673,553 (GRCm39)	critical splice donor site	probably null
R6501:Nfxl1	UTSW	5	72,685,852 (GRCm39)	splice site	probably null
R6521:Nfxl1	UTSW	5	72,697,651 (GRCm39)	splice site	probably null
R7283:Nfxl1	UTSW	5	72,686,393 (GRCm39)	missense	probably benign
R7426:Nfxl1	UTSW	5	72,681,517 (GRCm39)	nonsense	probably null
R7480:Nfxl1	UTSW	5	72,716,595 (GRCm39)	nonsense	probably null
R7648:Nfxl1	UTSW	5	72,680,879 (GRCm39)	missense	probably benign	0.12
R7817:Nfxl1	UTSW	5	72,671,632 (GRCm39)	missense	possibly damaging	0.89
R8186:Nfxl1	UTSW	5	72,716,355 (GRCm39)	critical splice donor site	probably null
R8468:Nfxl1	UTSW	5	72,675,548 (GRCm39)	missense	possibly damaging	0.95
R8765:Nfxl1	UTSW	5	72,686,443 (GRCm39)	missense	probably benign
R8969:Nfxl1	UTSW	5	72,716,473 (GRCm39)	missense	unknown
R9330:Nfxl1	UTSW	5	72,681,451 (GRCm39)	missense	probably benign	0.00
R9385:Nfxl1	UTSW	5	72,694,750 (GRCm39)	missense	probably benign	0.13
R9419:Nfxl1	UTSW	5	72,716,641 (GRCm39)	intron	probably benign
R9496:Nfxl1	UTSW	5	72,685,502 (GRCm39)	missense	possibly damaging	0.81
Z1176:Nfxl1	UTSW	5	72,695,493 (GRCm39)	missense	probably null	0.89

Predicted Primers

PCR Primer
(F):5'- TTTCAAGGATACAGTCAGCATGC -3'
(R):5'- CACTATAGAATCGTGTCAGGTTTC -3'

Sequencing Primer
(F):5'- GATACAGTCAGCATGCTCCGTC -3'
(R):5'- AGAATCGTGTCAGGTTTCTATTTCAG -3'

Posted On

2019-12-20