Mutagenetix > Incidental Mutation

Incidental Mutation 'R5724:Siglech'

452381

Institutional Source

Beutler Lab

Gene Symbol

Siglech

Ensembl Gene

ENSMUSG00000051504

Gene Name

sialic acid binding Ig-like lectin H

Synonyms

Siglec-H, 6430529G09Rik

MMRRC Submission

043342-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55417926-55428673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55418293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 87 (N87S)

Ref Sequence

ENSEMBL: ENSMUSP00000130632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060416] [ENSMUST00000094360] [ENSMUST00000121492] [ENSMUST00000154933] [ENSMUST00000165045] [ENSMUST00000171077] [ENSMUST00000172988] [ENSMUST00000173835]

AlphaFold

B7ZMQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060416
AA Change: N87S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058875
Gene: ENSMUSG00000051504
AA Change: N87S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	38	141	1.28e-1	SMART
IG_like	154	238	5.13e0	SMART
transmembrane domain	264	286	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094360
AA Change: N87S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091920
Gene: ENSMUSG00000051504
AA Change: N87S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	38	141	1.28e-1	SMART
IG_like	154	238	5.13e0	SMART
transmembrane domain	248	270	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121492
AA Change: N87S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113665
Gene: ENSMUSG00000051504
AA Change: N87S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	38	141	1.28e-1	SMART
transmembrane domain	171	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154933

Predicted Effect

probably damaging
Transcript: ENSMUST00000165045
AA Change: N87S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130632
Gene: ENSMUSG00000051504
AA Change: N87S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	38	141	1.28e-1	SMART
IG_like	154	238	5.13e0	SMART
transmembrane domain	263	285	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171077
AA Change: N87S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130943
Gene: ENSMUSG00000051504
AA Change: N87S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	38	141	1.28e-1	SMART
IG_like	154	238	5.13e0	SMART
transmembrane domain	264	286	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000172988
AA Change: T54A

SMART Domains

Protein: ENSMUSP00000134017
Gene: ENSMUSG00000051504
AA Change: T54A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173835
AA Change: N87S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134721
Gene: ENSMUSG00000051504
AA Change: N87S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	38	141	1.28e-1	SMART
transmembrane domain	171	193	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased T cell proliferation, increased BUN, vacuolated renal tubules, testicular atrophy and poor maturation of seminiferous tubules. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830408C21Rik	A	T	13: 107,168,905 (GRCm39)		noncoding transcript	Het
Adam5	T	A	8: 25,294,511 (GRCm39)	K363*	probably null	Het
Adamts12	T	C	15: 11,286,836 (GRCm39)	Y814H	probably benign	Het
Adar	G	T	3: 89,642,476 (GRCm39)	G119V	probably benign	Het
Adprs	G	T	4: 126,211,869 (GRCm39)	Q148K	probably damaging	Het
Atr	G	T	9: 95,748,641 (GRCm39)	L395F	probably damaging	Het
Bahcc1	A	G	11: 120,176,192 (GRCm39)	I1946V	possibly damaging	Het
Bend4	T	A	5: 67,575,284 (GRCm39)	D199V	probably damaging	Het
Bpifb1	C	A	2: 154,046,712 (GRCm39)	H77Q	probably benign	Het
Clca3a1	T	C	3: 144,714,833 (GRCm39)	T595A	probably benign	Het
Crebbp	A	T	16: 3,905,499 (GRCm39)		probably benign	Het
Cxcl16	T	C	11: 70,349,990 (GRCm39)	D12G	probably damaging	Het
Dnah10	T	C	5: 124,819,090 (GRCm39)	W459R	probably benign	Het
Dock8	T	C	19: 25,099,785 (GRCm39)	L636P	probably damaging	Het
Eif2ak3	A	G	6: 70,853,824 (GRCm39)	T197A	probably benign	Het
Fbxo40	T	A	16: 36,790,692 (GRCm39)	R139S	probably benign	Het
Fer	C	A	17: 64,231,152 (GRCm39)	T301K	probably damaging	Het
Fgf21	A	T	7: 45,264,729 (GRCm39)	M1K	probably null	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm38706	A	T	6: 130,459,963 (GRCm39)		noncoding transcript	Het
H2-Q6	A	C	17: 35,644,628 (GRCm39)	Y139S	probably damaging	Het
Ift70a2	T	C	2: 75,808,074 (GRCm39)	D146G	probably benign	Het
Igkv4-53	A	T	6: 69,625,991 (GRCm39)	Y59N	probably damaging	Het
Jrkl	T	C	9: 13,244,891 (GRCm39)	M257V	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Klhl26	T	A	8: 70,904,404 (GRCm39)	Y468F	probably damaging	Het
Lamb2	T	A	9: 108,357,950 (GRCm39)		probably null	Het
Lcp1	A	G	14: 75,464,422 (GRCm39)	T548A	probably benign	Het
Lct	T	A	1: 128,228,073 (GRCm39)	Q1140L	probably benign	Het
Lrp2	T	G	2: 69,281,726 (GRCm39)	N3882H	probably damaging	Het
Magi1	A	G	6: 93,657,852 (GRCm39)	I1126T	probably benign	Het
Magi1	A	G	6: 93,722,682 (GRCm39)	S399P	probably damaging	Het
Med16	A	G	10: 79,731,243 (GRCm39)	C825R	probably damaging	Het
Mtx3	C	T	13: 92,984,095 (GRCm39)	P124L	probably damaging	Het
Nabp2	C	T	10: 128,245,555 (GRCm39)		probably benign	Het
Or5b113	T	A	19: 13,342,515 (GRCm39)	H174Q	possibly damaging	Het
Pak4	A	T	7: 28,264,005 (GRCm39)	S244T	possibly damaging	Het
Pccb	C	T	9: 100,869,900 (GRCm39)	V307I	probably benign	Het
Plekhh2	A	G	17: 84,874,233 (GRCm39)	D506G	probably benign	Het
Plk4	T	C	3: 40,755,481 (GRCm39)	V26A	probably damaging	Het
Ppp2r3c	A	T	12: 55,344,617 (GRCm39)	M117K	probably benign	Het
Pramel21	A	G	4: 143,344,026 (GRCm39)	D442G	probably benign	Het
Pspc1	C	T	14: 57,015,529 (GRCm39)	E30K	probably benign	Het
Reps1	A	G	10: 17,990,231 (GRCm39)	S448G	possibly damaging	Het
Rnf34	C	T	5: 123,004,952 (GRCm39)	Q241*	probably null	Het
Sgta	A	T	10: 80,883,522 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sptbn1	A	G	11: 30,094,113 (GRCm39)	I392T	possibly damaging	Het
St18	T	A	1: 6,841,174 (GRCm39)	M21K	probably benign	Het
Sugp1	C	T	8: 70,522,799 (GRCm39)	R500C	probably damaging	Het
Tasp1	T	C	2: 139,899,339 (GRCm39)	K5E	probably damaging	Het
Tbx3	G	A	5: 119,813,668 (GRCm39)	V235I	possibly damaging	Het
Toporsl	A	T	4: 52,611,346 (GRCm39)	N413I	probably damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Zfp60	A	G	7: 27,447,758 (GRCm39)	Y142C	probably benign	Het

Other mutations in Siglech

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Siglech	APN	7	55,422,339 (GRCm39)	splice site	probably benign
IGL00509:Siglech	APN	7	55,418,635 (GRCm39)	missense	possibly damaging	0.47
R0619:Siglech	UTSW	7	55,418,910 (GRCm39)	missense	probably benign	0.44
R1746:Siglech	UTSW	7	55,418,252 (GRCm39)	missense	probably benign	0.03
R1818:Siglech	UTSW	7	55,418,332 (GRCm39)	missense	probably damaging	1.00
R2125:Siglech	UTSW	7	55,421,434 (GRCm39)	missense	probably benign	0.04
R4611:Siglech	UTSW	7	55,421,441 (GRCm39)	missense	probably damaging	1.00
R4835:Siglech	UTSW	7	55,418,177 (GRCm39)	nonsense	probably null
R5531:Siglech	UTSW	7	55,418,413 (GRCm39)	nonsense	probably null
R5694:Siglech	UTSW	7	55,418,404 (GRCm39)	missense	probably damaging	1.00
R6597:Siglech	UTSW	7	55,418,211 (GRCm39)	missense	probably benign	0.01
R7881:Siglech	UTSW	7	55,422,289 (GRCm39)	missense	probably benign	0.29
R8688:Siglech	UTSW	7	55,418,362 (GRCm39)	missense	probably benign	0.06
R9056:Siglech	UTSW	7	55,422,294 (GRCm39)	missense	probably benign	0.01
R9386:Siglech	UTSW	7	55,422,312 (GRCm39)	missense	probably benign
Z1088:Siglech	UTSW	7	55,418,742 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AAGTGGGCATCTGGAAACTGC -3'
(R):5'- TACCTGTCACATGCACAGAG -3'

Sequencing Primer
(F):5'- TCTCCCTAGAGAGGTCATAGGTAC -3'
(R):5'- GTCACATGCACAGAGATCCTTTC -3'

Posted On

2017-01-03