Mutagenetix > Incidental Mutation

Incidental Mutation 'R5694:Siglech'

443819

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

043325-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55417926-55428673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55418404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 124 (F124Y)

Ref Sequence

ENSEMBL: ENSMUSP00000130943 (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: F124Y

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

SMART Domains

Protein: ENSMUSP00000058875
Gene: ENSMUSG00000051504
AA Change: F124Y

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: F124Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091920
Gene: ENSMUSG00000051504
AA Change: F124Y

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: F124Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113665
Gene: ENSMUSG00000051504
AA Change: F124Y

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: F124Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130632
Gene: ENSMUSG00000051504
AA Change: F124Y

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: F124Y

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

SMART Domains

Protein: ENSMUSP00000130943
Gene: ENSMUSG00000051504
AA Change: F124Y

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 benign
Transcript: ENSMUST00000172988

SMART Domains

Protein: ENSMUSP00000134017
Gene: ENSMUSG00000051504

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173835
AA Change: F124Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134721
Gene: ENSMUSG00000051504
AA Change: F124Y

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,546,673 (GRCm39)	I1353N	probably damaging	Het
Actr1a	C	A	19: 46,384,157 (GRCm39)		probably benign	Het
Adamts14	A	T	10: 61,065,431 (GRCm39)	M356K	probably benign	Het
Adamtsl2	A	G	2: 26,971,736 (GRCm39)	H7R	probably benign	Het
Angptl2	T	C	2: 33,118,628 (GRCm39)	V134A	probably damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Astn2	T	C	4: 65,868,375 (GRCm39)	D488G	probably damaging	Het
Cat	A	T	2: 103,303,339 (GRCm39)	V146E	probably damaging	Het
Dmxl1	T	C	18: 50,027,324 (GRCm39)	V2144A	probably damaging	Het
Efcab5	T	G	11: 77,079,701 (GRCm39)	D15A	probably benign	Het
Epha10	C	T	4: 124,796,446 (GRCm39)	A385V	unknown	Het
Erg	C	A	16: 95,161,890 (GRCm39)	E388D	probably benign	Het
Fbxo10	T	A	4: 45,035,970 (GRCm39)	I931F	probably damaging	Het
Frem1	A	G	4: 82,912,353 (GRCm39)	L673P	probably damaging	Het
Gm4922	A	C	10: 18,660,035 (GRCm39)	I229S	possibly damaging	Het
Gnptab	T	A	10: 88,250,348 (GRCm39)	D153E	probably benign	Het
Htr7	T	C	19: 36,034,521 (GRCm39)	M45V	probably benign	Het
Hycc1	C	A	5: 24,196,794 (GRCm39)	L31F	probably damaging	Het
Igkv4-51	C	T	6: 69,658,911 (GRCm39)	V5M	probably damaging	Het
Ints7	G	A	1: 191,318,730 (GRCm39)	E156K	probably damaging	Het
Map3k21	A	G	8: 126,671,507 (GRCm39)	T932A	probably benign	Het
Mapk1	T	G	16: 16,836,333 (GRCm39)	D160E	probably benign	Het
Mast4	A	T	13: 102,910,701 (GRCm39)	Y479*	probably null	Het
Meig1	T	A	2: 3,412,999 (GRCm39)	K7N	probably damaging	Het
Mthfd1l	T	A	10: 3,985,239 (GRCm39)	D548E	possibly damaging	Het
Myo16	A	G	8: 10,619,606 (GRCm39)	R1386G	probably benign	Het
Nphs2	T	C	1: 156,153,607 (GRCm39)	S353P	probably benign	Het
Or12j4	T	C	7: 140,046,644 (GRCm39)	F177L	probably benign	Het
Or8b1	T	A	9: 38,399,532 (GRCm39)	I69K	probably damaging	Het
Pcdha9	G	T	18: 37,131,425 (GRCm39)	V165L	probably benign	Het
Pde3a	T	A	6: 141,196,228 (GRCm39)	S305T	possibly damaging	Het
Phf14	C	A	6: 11,990,124 (GRCm39)	L718I	possibly damaging	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Rab44	T	A	17: 29,364,940 (GRCm39)	M645K	unknown	Het
Rab44	T	C	17: 29,359,474 (GRCm39)	L554P	probably damaging	Het
Rnf222	A	G	11: 68,783,723 (GRCm39)	T97A	probably benign	Het
Rnpepl1	T	C	1: 92,846,663 (GRCm39)	S522P	probably benign	Het
Serinc5	A	G	13: 92,825,302 (GRCm39)	I244V	probably benign	Het
Serpinb10	A	T	1: 107,463,187 (GRCm39)		probably null	Het
Smarcc2	A	T	10: 128,319,996 (GRCm39)	I790L	probably benign	Het
Sos2	C	A	12: 69,637,689 (GRCm39)	R1007S	probably damaging	Het
Stk4	C	T	2: 163,942,484 (GRCm39)	T372M	possibly damaging	Het
Tbc1d10c	A	T	19: 4,234,963 (GRCm39)	L366H	probably damaging	Het
Tor4a	T	C	2: 25,084,932 (GRCm39)	T324A	probably benign	Het
Trim12a	C	A	7: 103,956,450 (GRCm39)	C30F	probably damaging	Het
Ttll3	G	A	6: 113,376,669 (GRCm39)	V350M	probably damaging	Het
Uggt1	A	T	1: 36,218,737 (GRCm39)	D63E	probably damaging	Het
Unc5b	G	A	10: 60,609,526 (GRCm39)	T590I	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	A	C	3: 159,545,624 (GRCm39)	I16L	probably benign	Het
Zfp101	T	C	17: 33,599,919 (GRCm39)	I612M	probably benign	Het
Zfp677	C	A	17: 21,618,021 (GRCm39)	D359E	probably damaging	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
R5724:Siglech	UTSW	7	55,418,293 (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'- ATTGAGTACCCCATGAACAGG -3'
(R):5'- ACAGCTACTGAGAAGCCCAG -3'

Sequencing Primer
(F):5'- TACCCCATGAACAGGTGGTCAG -3'
(R):5'- GAGAAGCCCAGGTTTTGATTCAACTC -3'

Posted On

2016-11-09