Mutagenetix > Incidental Mutation

Incidental Mutation 'R8043:Slain1'

618646

Institutional Source

Beutler Lab

Gene Symbol

Slain1

Ensembl Gene

ENSMUSG00000055717

Gene Name

SLAIN motif family, member 1

Synonyms

9630044O09Rik

MMRRC Submission

067480-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R8043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103887664-103942343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103925782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 377 (Q377K)

Ref Sequence

ENSEMBL: ENSMUSP00000070592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069443] [ENSMUST00000160805] [ENSMUST00000162818]

AlphaFold

Q68FF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069443
AA Change: Q377K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070592
Gene: ENSMUSG00000055717
AA Change: Q377K

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	13	72	2e-3	SMART
low complexity region	91	102	N/A	INTRINSIC
low complexity region	105	120	N/A	INTRINSIC
low complexity region	129	173	N/A	INTRINSIC
Pfam:SLAIN	185	237	6.7e-19	PFAM
Pfam:SLAIN	230	579	1.7e-138	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125685
Gene: ENSMUSG00000055717
AA Change: Q217K

Domain	Start	End	E-Value	Type
Pfam:SLAIN	15	420	4e-141	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160805
AA Change: Q330K

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125128
Gene: ENSMUSG00000055717
AA Change: Q330K

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	32	76	N/A	INTRINSIC
Pfam:SLAIN	88	532	2.6e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162818
AA Change: Q211K

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000123742
Gene: ENSMUSG00000055717
AA Change: Q211K

Domain	Start	End	E-Value	Type
Pfam:SLAIN	19	212	2e-86	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (50/51)

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,211,665 (GRCm39)	Y628C	probably damaging	Het
Alpk2	C	T	18: 65,482,901 (GRCm39)	C369Y	probably damaging	Het
Atl1	T	C	12: 70,005,989 (GRCm39)	Y432H	probably damaging	Het
Cacnb4	C	T	2: 52,355,663 (GRCm39)	V215M	probably damaging	Het
Cep170	C	T	1: 176,596,808 (GRCm39)	M516I	probably damaging	Het
Cep83	A	C	10: 94,573,804 (GRCm39)	N231T	probably damaging	Het
Cfap44	G	A	16: 44,234,054 (GRCm39)	G338D	probably benign	Het
Col6a6	A	T	9: 105,576,219 (GRCm39)	V2047E	probably damaging	Het
Coro1c	C	T	5: 114,003,820 (GRCm39)		silent	Het
Cplx4	A	T	18: 66,090,190 (GRCm39)		probably null	Het
Csf1r	G	C	18: 61,257,947 (GRCm39)	G639R	probably damaging	Het
Epha5	A	G	5: 84,381,513 (GRCm39)	V446A	probably benign	Het
Esam	T	C	9: 37,448,317 (GRCm39)	V252A	probably damaging	Het
F13b	T	G	1: 139,450,186 (GRCm39)	M616R	probably benign	Het
Fbxw21	T	C	9: 108,975,694 (GRCm39)	Y234C	probably benign	Het
Fshr	C	T	17: 89,293,818 (GRCm39)	E287K	probably benign	Het
Fstl4	T	C	11: 52,891,050 (GRCm39)	S63P	probably benign	Het
Glra1	G	A	11: 55,424,688 (GRCm39)	P174L	probably damaging	Het
Golga7	A	T	8: 23,746,731 (GRCm39)	C24S	possibly damaging	Het
Gpr3	G	A	4: 132,938,271 (GRCm39)	R134C	probably damaging	Het
Greb1	T	C	12: 16,761,790 (GRCm39)	E530G	probably damaging	Het
Hmgcs2	C	T	3: 98,198,444 (GRCm39)	R116C	probably damaging	Het
Kcnj9	C	A	1: 172,153,623 (GRCm39)	R167L	probably damaging	Het
Kcnq5	T	A	1: 21,549,644 (GRCm39)	Q361L	probably damaging	Het
Lrrc40	T	C	3: 157,769,397 (GRCm39)	S532P	possibly damaging	Het
Mob3a	A	T	10: 80,525,846 (GRCm39)	I155N	probably damaging	Het
Mpi	A	T	9: 57,457,881 (GRCm39)	L107Q	probably damaging	Het
Npffr2	G	A	5: 89,730,513 (GRCm39)	V148I	probably benign	Het
Nrp1	G	T	8: 129,158,504 (GRCm39)	V264L	probably benign	Het
Oas1a	T	C	5: 121,035,080 (GRCm39)	E360G	probably benign	Het
Or4k15c	A	T	14: 50,321,367 (GRCm39)	I257N	possibly damaging	Het
Or52e8	A	T	7: 104,625,080 (GRCm39)	Y41*	probably null	Het
Or5b96	A	C	19: 12,867,095 (GRCm39)	V282G	probably damaging	Het
Pcdha2	A	G	18: 37,072,579 (GRCm39)	D70G	probably benign	Het
Pcsk2	A	T	2: 143,655,450 (GRCm39)	K545*	probably null	Het
Phf11b	T	C	14: 59,568,722 (GRCm39)	S64G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Pygo2	T	C	3: 89,340,235 (GRCm39)	L211P	possibly damaging	Het
Rbbp6	C	T	7: 122,584,468 (GRCm39)	T161I	probably damaging	Het
Rcsd1	A	T	1: 165,482,911 (GRCm39)	I390N	probably benign	Het
Rpl21	T	C	5: 146,772,702 (GRCm39)	V141A	probably benign	Het
Rufy3	C	A	5: 88,790,851 (GRCm39)	D517E	probably benign	Het
Ryr3	A	T	2: 112,606,009 (GRCm39)	L2417Q	probably damaging	Het
Ryr3	C	T	2: 112,705,422 (GRCm39)	E831K	probably damaging	Het
Sipa1l1	A	C	12: 82,496,700 (GRCm39)	Q1744P	probably damaging	Het
Sirt6	A	G	10: 81,458,240 (GRCm39)		probably null	Het
Slc30a6	T	G	17: 74,730,018 (GRCm39)	S303A	probably damaging	Het
Sorcs3	T	A	19: 48,752,734 (GRCm39)	L843Q	possibly damaging	Het
Usp45	G	A	4: 21,824,543 (GRCm39)	A432T	probably benign	Het
Vmn1r91	T	A	7: 19,835,218 (GRCm39)	S46T	possibly damaging	Het
Ybx3	T	C	6: 131,361,469 (GRCm39)	N100S	probably benign	Het
Zfp747	A	G	7: 126,973,225 (GRCm39)	L315P	probably benign	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	Het

Other mutations in Slain1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02248:Slain1	APN	14	103,923,213 (GRCm39)	missense	probably damaging	1.00
P0016:Slain1	UTSW	14	103,923,110 (GRCm39)	missense	probably benign	0.37
R0113:Slain1	UTSW	14	103,923,261 (GRCm39)	splice site	probably benign
R0547:Slain1	UTSW	14	103,932,711 (GRCm39)	missense	probably damaging	1.00
R2113:Slain1	UTSW	14	103,888,282 (GRCm39)	missense	possibly damaging	0.81
R4986:Slain1	UTSW	14	103,925,541 (GRCm39)	missense	probably damaging	1.00
R6368:Slain1	UTSW	14	103,894,391 (GRCm39)	missense	probably benign	0.03
R6899:Slain1	UTSW	14	103,888,215 (GRCm39)	missense	possibly damaging	0.93
R7355:Slain1	UTSW	14	103,940,012 (GRCm39)	frame shift	probably null
R7442:Slain1	UTSW	14	103,923,150 (GRCm39)	missense	probably damaging	1.00
R7498:Slain1	UTSW	14	103,893,429 (GRCm39)	splice site	probably null
R7910:Slain1	UTSW	14	103,923,200 (GRCm39)	missense	probably damaging	1.00
R8845:Slain1	UTSW	14	103,925,747 (GRCm39)	missense	possibly damaging	0.87
R8872:Slain1	UTSW	14	103,925,841 (GRCm39)	critical splice donor site	probably null
R8929:Slain1	UTSW	14	103,923,164 (GRCm39)	missense	probably damaging	0.99
R9008:Slain1	UTSW	14	103,923,191 (GRCm39)	missense	probably damaging	1.00
R9489:Slain1	UTSW	14	103,902,112 (GRCm39)	missense
R9514:Slain1	UTSW	14	103,932,748 (GRCm39)	missense	probably damaging	0.99
R9605:Slain1	UTSW	14	103,902,112 (GRCm39)	missense
R9683:Slain1	UTSW	14	103,925,621 (GRCm39)	missense	probably damaging	1.00
Z1177:Slain1	UTSW	14	103,921,670 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGATCGCTACAGCCTGGAG -3'
(R):5'- ACAGGATCATCATGGCAGTTTTC -3'

Sequencing Primer
(F):5'- CTACAGCCTGGAGGACGAG -3'
(R):5'- GCAGTTTTCCTGAAGTCGGAAATC -3'

Posted On

2020-01-23