Mutagenetix > Incidental Mutation

Incidental Mutation 'R9508:Gnl1'

717969

Institutional Source

Beutler Lab

Gene Symbol

Gnl1

Ensembl Gene

ENSMUSG00000024429

Gene Name

guanine nucleotide binding protein-like 1

Synonyms

Gnal1, Gna-rs1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R9508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36290847-36300354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36299625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 599 (Y599H)

Ref Sequence

ENSEMBL: ENSMUSP00000084450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087200]

AlphaFold

P36916

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087200
AA Change: Y599H

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084450
Gene: ENSMUSG00000024429
AA Change: Y599H

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
low complexity region	31	46	N/A	INTRINSIC
low complexity region	90	102	N/A	INTRINSIC
SCOP:d1egaa1	179	232	6e-3	SMART
Pfam:MMR_HSR1	362	465	1.4e-13	PFAM
low complexity region	550	583	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,617,484 (GRCm39)	V536I		Het
Adam18	A	G	8: 25,143,778 (GRCm39)	I187T	possibly damaging	Het
Adam24	A	G	8: 41,132,941 (GRCm39)	I136M	probably benign	Het
B3galt2	A	T	1: 143,522,280 (GRCm39)	I139F	possibly damaging	Het
Cacna1i	C	T	15: 80,279,372 (GRCm39)	P2038S	probably benign	Het
Cbll1	A	T	12: 31,544,685 (GRCm39)	I26N	probably damaging	Het
Cldn1	A	T	16: 26,179,619 (GRCm39)	Y149*	probably null	Het
Cnot11	T	C	1: 39,581,575 (GRCm39)	V372A	probably damaging	Het
Cnot2	A	G	10: 116,329,616 (GRCm39)	L458P	probably damaging	Het
Cnot4	T	C	6: 35,045,554 (GRCm39)	E219G		Het
Col8a1	T	G	16: 57,448,947 (GRCm39)	I188L	unknown	Het
Daam2	T	C	17: 49,765,618 (GRCm39)	K1095R	probably damaging	Het
Dnah9	T	C	11: 65,725,089 (GRCm39)	T4355A	probably damaging	Het
Dsg4	A	G	18: 20,604,070 (GRCm39)	I846V	probably damaging	Het
Ehd4	C	T	2: 119,921,966 (GRCm39)	G430E	probably damaging	Het
Fanci	T	C	7: 79,083,033 (GRCm39)	Y670H	possibly damaging	Het
Galnt10	T	A	11: 57,673,040 (GRCm39)	N465K	possibly damaging	Het
Glipr1l1	A	G	10: 111,912,015 (GRCm39)	N183S	probably damaging	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Grk2	A	T	19: 4,341,636 (GRCm39)	N179K	probably damaging	Het
Igf2bp2	T	A	16: 21,898,845 (GRCm39)	M255L	probably benign	Het
Ighv2-6	T	C	12: 113,680,430 (GRCm39)	I70M	probably benign	Het
Igkv4-74	T	A	6: 69,161,942 (GRCm39)	N76Y	probably damaging	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank2	A	T	9: 21,687,076 (GRCm39)	L582Q	probably damaging	Het
Kmt2b	T	C	7: 30,269,259 (GRCm39)	T2554A	probably damaging	Het
Mecom	T	A	3: 30,010,621 (GRCm39)	Y619F	probably benign	Het
Mknk1	A	G	4: 115,732,579 (GRCm39)	N269S	probably benign	Het
Mpp2	T	A	11: 101,951,692 (GRCm39)	E435D	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or2f2	A	G	6: 42,767,928 (GRCm39)	*318W	probably null	Het
Or5g9	A	G	2: 85,552,165 (GRCm39)	R139G	possibly damaging	Het
Or7a41	A	T	10: 78,870,933 (GRCm39)	Q101L	probably damaging	Het
P3h3	A	G	6: 124,830,012 (GRCm39)		probably null	Het
Paqr5	C	T	9: 61,880,079 (GRCm39)	V72M	probably benign	Het
Pilrb2	G	A	5: 137,869,261 (GRCm39)	T113I	probably damaging	Het
Pitpnm3	T	C	11: 72,003,121 (GRCm39)	E63G	probably damaging	Het
Ppp4r4	G	A	12: 103,542,561 (GRCm39)	V108M	possibly damaging	Het
Ptprf	G	T	4: 118,126,776 (GRCm39)	S46*	probably null	Het
Rab2a	T	C	4: 8,582,447 (GRCm39)	L143P		Het
Rassf7	C	T	7: 140,796,924 (GRCm39)	R46*	probably null	Het
Sec23a	T	C	12: 59,036,185 (GRCm39)	D393G	probably benign	Het
Semp2l2b	A	G	10: 21,942,816 (GRCm39)	V388A	probably damaging	Het
Serpinb9f	T	A	13: 33,518,515 (GRCm39)	F338L	probably benign	Het
Spg7	T	C	8: 123,800,623 (GRCm39)	V66A	probably damaging	Het
Sult2a4	C	T	7: 13,723,437 (GRCm39)	R27H	probably benign	Het
Sumo2	A	C	11: 115,414,538 (GRCm39)	Y95D	possibly damaging	Het
Tbx18	G	A	9: 87,587,926 (GRCm39)	S397F	probably damaging	Het
Ticam2	G	C	18: 46,693,748 (GRCm39)	P113R	probably damaging	Het
Timeless	A	G	10: 128,076,096 (GRCm39)	S63G	probably benign	Het
Tinag	C	T	9: 76,912,981 (GRCm39)	C276Y	probably damaging	Het
Tmem143	A	T	7: 45,565,630 (GRCm39)	K364*	probably null	Het
Tmem160	A	G	7: 16,186,840 (GRCm39)		probably benign	Het
Tmod4	G	C	3: 95,034,713 (GRCm39)	E154Q	probably benign	Het
Trpv1	G	T	11: 73,145,090 (GRCm39)	K725N		Het
Ttn	G	T	2: 76,715,978 (GRCm39)	A7767D	unknown	Het
Tubd1	T	A	11: 86,448,640 (GRCm39)	Y318N	probably damaging	Het
Ufd1	T	A	16: 18,643,802 (GRCm39)	M187K	possibly damaging	Het
Unc5c	A	G	3: 141,494,736 (GRCm39)	N424D	possibly damaging	Het
Usp19	C	T	9: 108,371,608 (GRCm39)	S329L	probably damaging	Het
Vps16	T	A	2: 130,284,361 (GRCm39)	I704N	possibly damaging	Het
Vwf	A	T	6: 125,532,471 (GRCm39)	I72F		Het
Ypel4	T	C	2: 84,567,304 (GRCm39)	S46P	probably damaging	Het
Zcchc8	A	C	5: 123,842,584 (GRCm39)		probably null	Het

Other mutations in Gnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02956:Gnl1	APN	17	36,298,504 (GRCm39)	missense	probably benign
IGL03325:Gnl1	APN	17	36,299,548 (GRCm39)	missense	probably damaging	1.00
lepidoptera	UTSW	17	36,298,441 (GRCm39)	missense	probably damaging	1.00
mariposa	UTSW	17	36,298,425 (GRCm39)	nonsense	probably null
Morning_cloak	UTSW	17	36,294,305 (GRCm39)	missense	probably benign	0.01
papillon	UTSW	17	36,298,487 (GRCm39)	nonsense	probably null
R0648:Gnl1	UTSW	17	36,293,490 (GRCm39)	missense	probably damaging	1.00
R1611:Gnl1	UTSW	17	36,298,441 (GRCm39)	missense	probably damaging	1.00
R1781:Gnl1	UTSW	17	36,298,638 (GRCm39)	missense	probably damaging	1.00
R1897:Gnl1	UTSW	17	36,299,584 (GRCm39)	missense	possibly damaging	0.73
R2027:Gnl1	UTSW	17	36,293,850 (GRCm39)	missense	probably benign
R2240:Gnl1	UTSW	17	36,293,571 (GRCm39)	missense	probably benign	0.04
R3944:Gnl1	UTSW	17	36,299,413 (GRCm39)	missense	probably benign	0.09
R4569:Gnl1	UTSW	17	36,299,142 (GRCm39)	missense	probably benign	0.00
R4849:Gnl1	UTSW	17	36,298,603 (GRCm39)	splice site	probably null
R4969:Gnl1	UTSW	17	36,291,581 (GRCm39)	missense	possibly damaging	0.62
R5661:Gnl1	UTSW	17	36,293,447 (GRCm39)	missense	probably benign	0.13
R5705:Gnl1	UTSW	17	36,292,492 (GRCm39)	missense	probably benign	0.01
R6372:Gnl1	UTSW	17	36,293,427 (GRCm39)	missense	probably damaging	1.00
R6520:Gnl1	UTSW	17	36,293,845 (GRCm39)	missense	probably benign	0.17
R6919:Gnl1	UTSW	17	36,298,425 (GRCm39)	nonsense	probably null
R7022:Gnl1	UTSW	17	36,299,620 (GRCm39)	missense	probably damaging	1.00
R7323:Gnl1	UTSW	17	36,294,305 (GRCm39)	missense	probably benign	0.01
R7537:Gnl1	UTSW	17	36,299,428 (GRCm39)	missense	probably damaging	1.00
R7693:Gnl1	UTSW	17	36,299,112 (GRCm39)	missense	probably damaging	0.97
R8232:Gnl1	UTSW	17	36,298,487 (GRCm39)	nonsense	probably null
R8320:Gnl1	UTSW	17	36,293,490 (GRCm39)	missense	probably damaging	1.00
R8840:Gnl1	UTSW	17	36,293,486 (GRCm39)	missense	probably damaging	0.98
R8883:Gnl1	UTSW	17	36,293,490 (GRCm39)	missense	probably damaging	1.00
R8899:Gnl1	UTSW	17	36,299,608 (GRCm39)	missense	probably damaging	1.00
R8946:Gnl1	UTSW	17	36,294,479 (GRCm39)	missense	probably benign	0.12
X0027:Gnl1	UTSW	17	36,298,693 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTGTGTTCCTCAGGCACCTG -3'
(R):5'- AGCTCTGCTTCCCAAAGAG -3'

Sequencing Primer
(F):5'- ACCCAGAGACTGCAGAGCTG -3'
(R):5'- GCTCTGCTTCCCAAAGAGAATGAAG -3'

Posted On

2022-07-18