Mutagenetix > Incidental Mutation

Incidental Mutation 'R7731:Smpdl3a'

595846

Institutional Source

Beutler Lab

Gene Symbol

Smpdl3a

Ensembl Gene

ENSMUSG00000019872

Gene Name

sphingomyelin phosphodiesterase, acid-like 3A

Synonyms

ASM3A, 0610010C24Rik, ASML3A

MMRRC Submission

045787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57670640-57687926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57678650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 151 (Y151C)

Ref Sequence

ENSEMBL: ENSMUSP00000020022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020022] [ENSMUST00000151623]

AlphaFold

P70158

Predicted Effect

probably damaging
Transcript: ENSMUST00000020022
AA Change: Y151C

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

SMART Domains

Protein: ENSMUSP00000020022
Gene: ENSMUSG00000019872
AA Change: Y151C

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Metallophos	35	294	1.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151623

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,470 (GRCm39)	E210G	possibly damaging	Het
Accsl	T	C	2: 93,691,363 (GRCm39)	T372A	probably benign	Het
Adgrf5	T	A	17: 43,761,451 (GRCm39)	S1049T	probably damaging	Het
Agmo	G	A	12: 37,464,939 (GRCm39)	R405K	probably benign	Het
Akap3	A	G	6: 126,842,031 (GRCm39)	T217A	probably benign	Het
Ankfy1	T	A	11: 72,603,107 (GRCm39)	N45K	probably benign	Het
Ankrd11	G	A	8: 123,622,172 (GRCm39)	T560I	probably benign	Het
Aqp1	T	C	6: 55,322,804 (GRCm39)	Y186H	possibly damaging	Het
Arhgef18	G	A	8: 3,434,936 (GRCm39)	V194M	probably damaging	Het
Arnt	T	C	3: 95,391,086 (GRCm39)	V320A	probably benign	Het
B230217C12Rik	T	C	11: 97,732,226 (GRCm39)	L2P	unknown	Het
Bco1	C	A	8: 117,857,807 (GRCm39)	S477R	possibly damaging	Het
Brd4	A	G	17: 32,430,198 (GRCm39)	S703P	possibly damaging	Het
Ceacam3	T	A	7: 16,892,275 (GRCm39)	N339K		Het
Cebpb	A	G	2: 167,531,126 (GRCm39)	D62G	probably damaging	Het
Clca4a	T	C	3: 144,658,546 (GRCm39)	I890V	probably benign	Het
Cyp2d9	A	G	15: 82,339,633 (GRCm39)		probably null	Het
Cyth1	T	C	11: 118,059,879 (GRCm39)	T374A	possibly damaging	Het
Dennd3	A	T	15: 73,434,216 (GRCm39)	H962L	probably damaging	Het
Dhtkd1	T	G	2: 5,928,923 (GRCm39)	L249F	probably benign	Het
Dnah7b	T	A	1: 46,178,905 (GRCm39)	H859Q	probably benign	Het
E2f4	A	G	8: 106,025,265 (GRCm39)	D115G	probably damaging	Het
Eif4a3l1	A	G	6: 136,305,871 (GRCm39)	I111V	probably benign	Het
Exoc3l4	G	C	12: 111,397,182 (GRCm39)	D688H	possibly damaging	Het
Fan1	C	T	7: 64,022,444 (GRCm39)	V270I	probably benign	Het
Fat2	A	T	11: 55,201,532 (GRCm39)	I514N	probably damaging	Het
Fndc1	G	A	17: 7,992,271 (GRCm39)	T475I	unknown	Het
Fstl5	T	A	3: 76,569,069 (GRCm39)	I574N	probably damaging	Het
Fzd4	T	C	7: 89,057,258 (GRCm39)	V435A	possibly damaging	Het
Fzd6	T	C	15: 38,897,327 (GRCm39)	F492S	probably damaging	Het
Gm4924	T	A	10: 82,213,361 (GRCm39)	N386K	unknown	Het
Hbp1	A	T	12: 31,983,367 (GRCm39)	D362E	possibly damaging	Het
Hectd4	A	C	5: 121,445,077 (GRCm39)	M105L	probably benign	Het
Hivep2	C	T	10: 14,025,458 (GRCm39)	P2424L	probably benign	Het
Hspa4	A	T	11: 53,157,791 (GRCm39)		probably null	Het
Igf2bp3	A	G	6: 49,111,665 (GRCm39)	V122A	probably damaging	Het
Ikzf2	A	T	1: 69,578,302 (GRCm39)	N402K	possibly damaging	Het
Ip6k1	T	C	9: 107,921,927 (GRCm39)	F207S	probably damaging	Het
Kbtbd8	C	A	6: 95,095,559 (GRCm39)	N24K	probably benign	Het
Krtap10-4	T	G	10: 77,662,654 (GRCm39)	T75P	unknown	Het
Macf1	C	A	4: 123,338,672 (GRCm39)	S4355I	probably benign	Het
Muc5b	A	T	7: 141,411,042 (GRCm39)		probably null	Het
Myo3a	G	A	2: 22,287,400 (GRCm39)	V179M	probably damaging	Het
Nup210	G	T	6: 91,048,870 (GRCm39)	T462K	possibly damaging	Het
Or11g27	T	A	14: 50,771,141 (GRCm39)	S91T	probably damaging	Het
Or1l4	A	G	2: 37,091,561 (GRCm39)	M103V	probably benign	Het
Or51f5	A	G	7: 102,424,141 (GRCm39)	I137V	probably benign	Het
Or5j1	T	C	2: 86,879,578 (GRCm39)	M1V	probably null	Het
Or8b53	A	G	9: 38,667,542 (GRCm39)	Q186R	possibly damaging	Het
Ostn	G	A	16: 27,165,668 (GRCm39)	R119Q	probably damaging	Het
Pcdhga11	A	T	18: 37,889,564 (GRCm39)	N191Y	probably benign	Het
Pcsk6	A	T	7: 65,683,641 (GRCm39)	Q752L	probably benign	Het
Pfas	T	C	11: 68,890,871 (GRCm39)	T347A	probably damaging	Het
Pkd1	A	T	17: 24,792,872 (GRCm39)	R1520W	probably damaging	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Prpf8	T	C	11: 75,399,732 (GRCm39)	S2264P	probably damaging	Het
Ptcd1	C	A	5: 145,088,174 (GRCm39)	R612S	probably benign	Het
Ptch2	T	A	4: 116,965,492 (GRCm39)	F359Y	probably benign	Het
Ptprr	A	C	10: 116,073,200 (GRCm39)	D474A	probably damaging	Het
Pum1	C	A	4: 130,490,274 (GRCm39)	Q846K	probably benign	Het
Slc22a14	C	T	9: 118,999,677 (GRCm39)	A505T	possibly damaging	Het
Snrnp200	A	G	2: 127,071,022 (GRCm39)	N1101S	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Sptlc1	A	G	13: 53,487,993 (GRCm39)	V450A	probably benign	Het
Sqle	A	G	15: 59,187,821 (GRCm39)	Y43C	probably benign	Het
Srgap3	T	C	6: 112,743,858 (GRCm39)	H460R	probably benign	Het
Syt15	A	T	14: 33,945,024 (GRCm39)	E190D	possibly damaging	Het
Tbc1d10b	T	C	7: 126,797,993 (GRCm39)	K716R	probably benign	Het
Tbx20	T	C	9: 24,681,993 (GRCm39)	I120M	probably damaging	Het
Tgm1	T	G	14: 55,947,978 (GRCm39)	I274L	probably benign	Het
Tmem156	C	T	5: 65,232,905 (GRCm39)		probably null	Het
Tnk2	A	G	16: 32,488,952 (GRCm39)	D264G	possibly damaging	Het
Tsc22d4	A	G	5: 137,756,956 (GRCm39)	S306G	possibly damaging	Het
Tut1	T	A	19: 8,936,626 (GRCm39)	V150D	probably benign	Het
Uchl5	T	C	1: 143,670,275 (GRCm39)	F143L		Het
Vmn1r23	T	C	6: 57,903,319 (GRCm39)	K153R	probably benign	Het
Zfp236	A	T	18: 82,698,798 (GRCm39)	D94E	probably benign	Het
Zfp759	T	C	13: 67,287,690 (GRCm39)	Y414H	possibly damaging	Het

Other mutations in Smpdl3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Smpdl3a	APN	10	57,684,042 (GRCm39)	missense	probably benign	0.01
IGL01530:Smpdl3a	APN	10	57,683,989 (GRCm39)	missense	probably damaging	1.00
IGL01936:Smpdl3a	APN	10	57,678,530 (GRCm39)	missense	probably damaging	1.00
IGL02342:Smpdl3a	APN	10	57,685,276 (GRCm39)	splice site	probably benign
IGL02372:Smpdl3a	APN	10	57,683,611 (GRCm39)	missense	probably benign	0.05
IGL02827:Smpdl3a	APN	10	57,678,592 (GRCm39)	missense	probably damaging	1.00
R0462:Smpdl3a	UTSW	10	57,670,827 (GRCm39)	missense	probably benign	0.07
R0658:Smpdl3a	UTSW	10	57,687,336 (GRCm39)	missense	probably damaging	0.99
R1216:Smpdl3a	UTSW	10	57,678,575 (GRCm39)	missense	probably null	0.98
R1502:Smpdl3a	UTSW	10	57,685,187 (GRCm39)	missense	probably damaging	1.00
R1559:Smpdl3a	UTSW	10	57,683,588 (GRCm39)	missense	probably damaging	0.99
R1807:Smpdl3a	UTSW	10	57,677,118 (GRCm39)	missense	probably damaging	0.99
R2872:Smpdl3a	UTSW	10	57,678,626 (GRCm39)	missense	possibly damaging	0.51
R2872:Smpdl3a	UTSW	10	57,678,626 (GRCm39)	missense	possibly damaging	0.51
R2877:Smpdl3a	UTSW	10	57,685,181 (GRCm39)	missense	probably damaging	1.00
R4799:Smpdl3a	UTSW	10	57,684,111 (GRCm39)	missense	probably damaging	1.00
R4814:Smpdl3a	UTSW	10	57,687,337 (GRCm39)	missense	probably damaging	1.00
R4916:Smpdl3a	UTSW	10	57,677,127 (GRCm39)	missense	probably damaging	1.00
R5137:Smpdl3a	UTSW	10	57,677,163 (GRCm39)	missense	possibly damaging	0.93
R5778:Smpdl3a	UTSW	10	57,677,097 (GRCm39)	missense	probably damaging	0.98
R5781:Smpdl3a	UTSW	10	57,684,034 (GRCm39)	missense	possibly damaging	0.78
R5917:Smpdl3a	UTSW	10	57,681,654 (GRCm39)	splice site	probably null
R6044:Smpdl3a	UTSW	10	57,687,358 (GRCm39)	missense	possibly damaging	0.82
R6773:Smpdl3a	UTSW	10	57,678,533 (GRCm39)	missense	probably damaging	0.99
R6863:Smpdl3a	UTSW	10	57,684,107 (GRCm39)	nonsense	probably null
R7480:Smpdl3a	UTSW	10	57,678,574 (GRCm39)	missense	possibly damaging	0.87
R7923:Smpdl3a	UTSW	10	57,677,141 (GRCm39)	missense	probably damaging	1.00
R8120:Smpdl3a	UTSW	10	57,683,547 (GRCm39)	missense	probably damaging	1.00
R8344:Smpdl3a	UTSW	10	57,677,073 (GRCm39)	missense	possibly damaging	0.81
R8377:Smpdl3a	UTSW	10	57,677,032 (GRCm39)	missense	possibly damaging	0.88
R8712:Smpdl3a	UTSW	10	57,687,526 (GRCm39)	missense	probably benign	0.44
R8876:Smpdl3a	UTSW	10	57,685,166 (GRCm39)	missense	probably damaging	1.00
R9003:Smpdl3a	UTSW	10	57,683,977 (GRCm39)	missense	probably damaging	1.00
R9145:Smpdl3a	UTSW	10	57,677,028 (GRCm39)	missense	possibly damaging	0.76
R9266:Smpdl3a	UTSW	10	57,678,596 (GRCm39)	missense	possibly damaging	0.51
Z1176:Smpdl3a	UTSW	10	57,681,714 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAATAGCTACAGCAAGTTATGC -3'
(R):5'- TGCCTTGCTAAGCCTATCATG -3'

Sequencing Primer
(F):5'- TGCATACATCTAGGGATTTTTGTTC -3'
(R):5'- TGCTAAGCCTATCATGGATCTG -3'

Posted On

2019-11-12