Mutagenetix > Incidental Mutation

Incidental Mutation 'R7297:Rell1'

566726

Institutional Source

Beutler Lab

Gene Symbol

Rell1

Ensembl Gene

ENSMUSG00000047881

Gene Name

RELT-like 1

Synonyms

MMRRC Submission

045401-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R7297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63908897-63968897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63936075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 112 (N112K)

Ref Sequence

ENSEMBL: ENSMUSP00000118125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087327] [ENSMUST00000154169]

AlphaFold

Q8K2J7

Predicted Effect

probably benign
Transcript: ENSMUST00000087327

SMART Domains

Protein: ENSMUSP00000084585
Gene: ENSMUSG00000047881

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154169
AA Change: N112K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: N112K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:RELT	59	103	1.2e-26	PFAM
low complexity region	149	168	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,442,076 (GRCm38)	D1400G	probably benign	Het
Abca6	C	T	11: 110,183,026 (GRCm38)		probably null	Het
Adh4	A	G	3: 138,429,140 (GRCm38)	I358M	possibly damaging	Het
Akap6	T	G	12: 52,887,364 (GRCm38)	D546E	probably benign	Het
Arap3	G	A	18: 37,973,563 (GRCm38)	A1409V	possibly damaging	Het
Arhgap22	C	T	14: 33,271,933 (GRCm38)	R68*	probably null	Het
Arhgef4	A	T	1: 34,807,192 (GRCm38)	D207V	probably damaging	Het
Asb15	A	G	6: 24,566,463 (GRCm38)	T472A	probably damaging	Het
Ascl1	A	T	10: 87,492,464 (GRCm38)	S209T	probably damaging	Het
Asxl1	T	C	2: 153,397,435 (GRCm38)	V382A	probably benign	Het
Atp11a	T	C	8: 12,806,774 (GRCm38)		probably null	Het
Calu	C	T	6: 29,356,555 (GRCm38)	R27*	probably null	Het
Cdh20	A	G	1: 104,970,873 (GRCm38)	T442A	probably benign	Het
Chrm3	T	A	13: 9,877,833 (GRCm38)	Q389L	probably benign	Het
Cntnap1	A	G	11: 101,188,634 (GRCm38)	T1233A	probably benign	Het
Cwc15	G	A	9: 14,510,229 (GRCm38)	C197Y	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524 (GRCm38)	T223S	unknown	Het
Dennd3	C	T	15: 73,557,610 (GRCm38)	T914I	probably damaging	Het
Dlx3	C	A	11: 95,120,450 (GRCm38)	Y43*	probably null	Het
Dnah17	A	G	11: 118,103,356 (GRCm38)	F1081S	probably damaging	Het
Dnah17	A	T	11: 118,055,730 (GRCm38)		probably null	Het
Dpp10	G	A	1: 123,353,428 (GRCm38)	Q631*	probably null	Het
Dsel	T	A	1: 111,861,776 (GRCm38)	D343V	probably damaging	Het
Efcab12	T	C	6: 115,811,036 (GRCm38)	D655G	possibly damaging	Het
Epha8	T	A	4: 136,945,913 (GRCm38)	I187L	probably damaging	Het
Exosc10	A	G	4: 148,580,377 (GRCm38)	K781E	probably damaging	Het
Exosc5	T	C	7: 25,666,326 (GRCm38)	L200P	probably benign	Het
Faiml	T	C	9: 99,229,613 (GRCm38)	E131G	probably damaging	Het
Gm13723	A	T	2: 86,873,636 (GRCm38)	V29E	probably damaging	Het
Gm5145	G	A	17: 20,570,731 (GRCm38)	V124I	probably benign	Het
Grm7	T	C	6: 110,646,013 (GRCm38)	V49A	probably benign	Het
Gtf2e1	T	C	16: 37,536,065 (GRCm38)	D35G	probably damaging	Het
Heatr1	C	T	13: 12,421,060 (GRCm38)	Q1160*	probably null	Het
Herc2	T	A	7: 56,136,658 (GRCm38)	C1584S	probably benign	Het
Hsd17b3	T	C	13: 64,076,351 (GRCm38)	I88V	probably damaging	Het
Hspa14	A	C	2: 3,498,142 (GRCm38)	L205R	possibly damaging	Het
Ifna11	A	C	4: 88,820,425 (GRCm38)	E156A	possibly damaging	Het
Krt83	T	C	15: 101,489,647 (GRCm38)	D170G	probably benign	Het
Mas1	T	C	17: 12,841,858 (GRCm38)	Y226C	probably damaging	Het
Micall1	T	C	15: 79,120,897 (GRCm38)	F190L	unknown	Het
Msi2	A	T	11: 88,480,038 (GRCm38)	L141Q	probably damaging	Het
Nfkbib	T	C	7: 28,766,343 (GRCm38)	D27G	probably benign	Het
Nlrp9b	A	G	7: 20,049,513 (GRCm38)	D927G	possibly damaging	Het
Nrg3	T	C	14: 38,370,939 (GRCm38)	D579G	probably benign	Het
Nutm1	G	A	2: 112,250,056 (GRCm38)	R505C	probably damaging	Het
Olfr26	G	A	9: 38,855,949 (GRCm38)	D296N	probably damaging	Het
Parp4	C	T	14: 56,647,681 (GRCm38)	P1406S	not run	Het
Pkib	A	T	10: 57,736,326 (GRCm38)	Q101L	possibly damaging	Het
Plat	C	T	8: 22,775,697 (GRCm38)	T252I	probably benign	Het
Ppm1d	A	T	11: 85,345,995 (GRCm38)	E533D	probably damaging	Het
Psd3	T	C	8: 68,121,034 (GRCm38)	K165R	probably damaging	Het
Psg29	T	A	7: 17,210,691 (GRCm38)	Y375*	probably null	Het
Pus7	A	T	5: 23,741,910 (GRCm38)	I644N	probably damaging	Het
Rbbp9	A	T	2: 144,543,802 (GRCm38)	M181K	probably benign	Het
Simc1	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	13: 54,525,235 (GRCm38)		probably benign	Het
Skint5	G	A	4: 113,542,934 (GRCm38)	T1184M	unknown	Het
Slc27a2	T	A	2: 126,578,946 (GRCm38)	D452E	probably damaging	Het
Slc44a4	T	A	17: 34,927,912 (GRCm38)	I489N	probably damaging	Het
Slfn14	T	A	11: 83,278,995 (GRCm38)	K608*	probably null	Het
Snx15	T	A	19: 6,120,507 (GRCm38)	I301F	probably damaging	Het
Sost	C	T	11: 101,964,103 (GRCm38)	G127R	probably damaging	Het
Stt3b	A	G	9: 115,276,957 (GRCm38)	I150T	probably damaging	Het
Susd2	T	C	10: 75,642,568 (GRCm38)	D58G	probably benign	Het
Tex46	T	G	4: 136,612,901 (GRCm38)	V99G	probably damaging	Het
Tgfbi	T	A	13: 56,632,113 (GRCm38)	F492I	possibly damaging	Het
Tmem132c	G	A	5: 127,360,217 (GRCm38)	A257T	probably benign	Het
Trim2	A	T	3: 84,210,233 (GRCm38)	I51K	probably damaging	Het
Tsn	A	T	1: 118,300,861 (GRCm38)	Y210*	probably null	Het
Umodl1	G	A	17: 31,008,665 (GRCm38)	R1324H	probably benign	Het
Utp3	G	C	5: 88,554,517 (GRCm38)		probably benign	Het
Vmn1r5	A	T	6: 56,986,219 (GRCm38)	N293I	possibly damaging	Het
Vmn2r124	A	T	17: 18,073,573 (GRCm38)	I641F	probably damaging	Het
Vmn2r84	T	C	10: 130,391,250 (GRCm38)	N240D	probably benign	Het
Wbp1l	A	G	19: 46,654,400 (GRCm38)	D264G	possibly damaging	Het

Other mutations in Rell1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Rell1	APN	5	63,937,814 (GRCm38)	missense	probably damaging	1.00
IGL02374:Rell1	APN	5	63,937,808 (GRCm38)	missense	possibly damaging	0.94
IGL02697:Rell1	APN	5	63,927,011 (GRCm38)	missense	probably damaging	0.96
R0648:Rell1	UTSW	5	63,924,745 (GRCm38)	missense	probably benign	0.05
R1471:Rell1	UTSW	5	63,936,085 (GRCm38)	missense	probably damaging	1.00
R3177:Rell1	UTSW	5	63,926,987 (GRCm38)	critical splice donor site	probably null
R3277:Rell1	UTSW	5	63,926,987 (GRCm38)	critical splice donor site	probably null
R4095:Rell1	UTSW	5	63,968,670 (GRCm38)	missense	probably benign
R4921:Rell1	UTSW	5	63,936,033 (GRCm38)	missense	probably damaging	1.00
R4952:Rell1	UTSW	5	63,939,667 (GRCm38)	intron	probably benign
R6294:Rell1	UTSW	5	63,939,705 (GRCm38)	intron	probably benign
R6692:Rell1	UTSW	5	63,937,867 (GRCm38)	missense	probably damaging	1.00
R8078:Rell1	UTSW	5	63,939,721 (GRCm38)	intron	probably benign
R8385:Rell1	UTSW	5	63,930,518 (GRCm38)	nonsense	probably null
R9227:Rell1	UTSW	5	63,939,762 (GRCm38)	intron	probably benign
R9230:Rell1	UTSW	5	63,939,762 (GRCm38)	intron	probably benign
X0028:Rell1	UTSW	5	63,936,095 (GRCm38)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTTGTGACAGTGCTAAAAGCTG -3'
(R):5'- CGTGTTCAGCCCAGGAATTC -3'

Sequencing Primer
(F):5'- CTAAAAGCTGAGGAGTTACAGAGTTC -3'
(R):5'- TTCAAAAACGTGTGGCATCG -3'

Posted On

2019-06-26